Q06124
EV
Gene name |
PTPN11 (PTP2C, SHPTP2) |
Protein name |
Tyrosine-protein phosphatase non-receptor type 11 |
Names |
Protein-tyrosine phosphatase 1D, PTP-1D, Protein-tyrosine phosphatase 2C, PTP-2C, SH-PTP2, SHP-2, Shp2, SH-PTP3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5781 |
EC number |
3.1.3.48: Phosphoric monoester hydrolases |
Protein Class |
TYROSINE-PROTEIN PHOSPHATASE NON-RECEPTOR TYPE 11 (PTHR46559) |
Descriptions
SHPTP2 is a widely-expressed Src homology 2 (SH2) domain-containing protein tyrosine phosphatase (PTP) that is important for normal cell development. It plays a critical role in a variety of signal transduction pathways, including growth factor-mediated cell proliferation. Regulation of SHPTP2 activity is, in part, achieved by an intramolecular interaction between the PTP domain containing the catalytic site and the SH2 1 domain, which leads to closed protein conformation and autoinhibition. Accordingly, opening of the SH2 1 and PTP domains is required for the protein to become active. The binding of phosphopeptides to the SH2 1 domain is known to induce the opening event.
Autoinhibitory domains (AIDs)
Target domain |
246-523 (PTP domain) |
Relief mechanism |
Ligand binding |
Assay |
Structural analysis, Mutagenesis experiment, Peptide inhibitor test |
Accessory elements
No accessory elements
References
- Tartaglia M et al. (2010) "Noonan syndrome: clinical aspects and molecular pathogenesis", Molecular syndromology, 1, 2-26
- Darian E et al. (2011) "Structural mechanism associated with domain opening in gain-of-function mutations in SHP2 phosphatase", Proteins, 79, 1573-88
- Garcia Fortanet J et al. (2016) "Allosteric Inhibition of SHP2: Identification of a Potent, Selective, and Orally Efficacious Phosphatase Inhibitor", Journal of medicinal chemistry, 59, 7773-82
- LaRochelle JR et al. (2018) "Structural reorganization of SHP2 by oncogenic mutations and implications for oncoprotein resistance to allosteric inhibition", Nature communications, 9, 4508
- Hou Y et al. (2023) "How a single mutation alters the protein structure: a simulation investigation on protein tyrosine phosphatase SHP2", RSC advances, 13, 4263-4274
- Wu X et al. (2019) "Small Molecule Inhibitor that Stabilizes the Autoinhibited Conformation of the Oncogenic Tyrosine Phosphatase SHP2", Journal of medicinal chemistry, 62, 1125-1137
- Shen D et al. (2020) "Therapeutic potential of targeting SHP2 in human developmental disorders and cancers", European journal of medicinal chemistry, 190, 112117
- LaRochelle JR et al. (2016) "Structural and Functional Consequences of Three Cancer-Associated Mutations of the Oncogenic Phosphatase SHP2", Biochemistry, 55, 2269-77
Autoinhibited structure
Activated structure
82 structures for Q06124
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2SHP | X-ray | 200 A | A/B | 1-525 | PDB |
| 3B7O | X-ray | 160 A | A | 237-529 | PDB |
| 3MOW | X-ray | 230 A | A | 262-528 | PDB |
| 3O5X | X-ray | 200 A | A | 262-528 | PDB |
| 3TKZ | X-ray | 180 A | A | 1-106 | PDB |
| 3TL0 | X-ray | 205 A | A | 1-106 | PDB |
| 3ZM0 | X-ray | 150 A | A | 248-527 | PDB |
| 3ZM1 | X-ray | 140 A | A | 248-527 | PDB |
| 3ZM2 | X-ray | 150 A | A | 248-527 | PDB |
| 3ZM3 | X-ray | 150 A | A | 248-527 | PDB |
| 4DGP | X-ray | 230 A | A | 1-528 | PDB |
| 4DGX | X-ray | 230 A | A | 1-528 | PDB |
| 4GWF | X-ray | 210 A | A/B | 1-539 | PDB |
| 4H1O | X-ray | 220 A | A | 1-539 | PDB |
| 4H34 | X-ray | 270 A | A | 1-539 | PDB |
| 4JE4 | X-ray | 231 A | A | 1-103 | PDB |
| 4JEG | X-ray | 230 A | A | 97-217 | PDB |
| 4JMG | X-ray | 140 A | B | 575-587 | PDB |
| 4NWF | X-ray | 210 A | A/B | 1-539 | PDB |
| 4NWG | X-ray | 245 A | A/B | 1-539 | PDB |
| 4OHD | X-ray | 270 A | A | 1-528 | PDB |
| 4OHE | X-ray | 251 A | A | 1-528 | PDB |
| 4OHH | X-ray | 270 A | A | 1-528 | PDB |
| 4OHI | X-ray | 220 A | A | 1-528 | PDB |
| 4OHL | X-ray | 240 A | A/B | 1-528 | PDB |
| 4PVG | X-ray | 240 A | A | 240-528 | PDB |
| 4QSY | X-ray | 210 A | A | 1-106 | PDB |
| 4RDD | X-ray | 160 A | A | 262-528 | PDB |
| 5BK8 | X-ray | 225 A | A | 1-528 | PDB |
| 5DF6 | X-ray | 178 A | A | 1-222 | PDB |
| 5EHP | X-ray | 185 A | A/B | 1-525 | PDB |
| 5EHR | X-ray | 170 A | A/B | 1-525 | PDB |
| 5I6V | X-ray | 187 A | A/B | 1-525 | PDB |
| 5IBM | X-ray | 218 A | A/B | 1-525 | PDB |
| 5IBS | X-ray | 232 A | A/B | 1-525 | PDB |
| 5X7B | X-ray | 245 A | A | 1-220 | PDB |
| 5X94 | X-ray | 260 A | A/B | 1-220 | PDB |
| 5XZR | X-ray | 280 A | A | 1-534 | PDB |
| 6ATD | X-ray | 250 A | A/B | 1-526 | PDB |
| 6BMR | X-ray | 221 A | A/B | 1-525 | PDB |
| 6BMU | X-ray | 212 A | A/B | 1-525 | PDB |
| 6BMV | X-ray | 205 A | A/B | 1-525 | PDB |
| 6BMW | X-ray | 210 A | A/B | 1-525 | PDB |
| 6BMX | X-ray | 242 A | A/B | 1-525 | PDB |
| 6BMY | X-ray | 209 A | A/B | 1-525 | PDB |
| 6BN5 | X-ray | 222 A | A/B | 1-525 | PDB |
| 6CMP | X-ray | 180 A | A/B | 1-529 | PDB |
| 6CMQ | X-ray | 290 A | A/B/C/D | 106-529 | PDB |
| 6CMR | X-ray | 221 A | A | 1-529 | PDB |
| 6CMS | X-ray | 268 A | A | 1-529 | PDB |
| 6CRF | X-ray | 262 A | A/B | 1-525 | PDB |
| 6CRG | X-ray | 275 A | A/B | 1-525 | PDB |
| 6MD7 | X-ray | 196 A | A/B | 1-525 | PDB |
| 6MD9 | X-ray | 212 A | A/B | 1-525 | PDB |
| 6MDA | X-ray | 221 A | A/B | 1-525 | PDB |
| 6MDB | X-ray | 234 A | A/B | 1-525 | PDB |
| 6MDC | X-ray | 214 A | A/B | 1-525 | PDB |
| 6MDD | X-ray | 205 A | A/B | 1-525 | PDB |
| 6R5G | NMR | - | A | 105-220 | PDB |
| 6WU8 | X-ray | 240 A | A/B | 1-530 | PDB |
| 7EMN | X-ray | 300 A | A/B | 1-534 | PDB |
| 7JVM | X-ray | 217 A | A/B | 1-525 | PDB |
| 7JVN | X-ray | 192 A | A/B | 1-525 | PDB |
| 7R75 | X-ray | 283 A | A | 1-530 | PDB |
| 7R7D | X-ray | 260 A | A/B | 1-530 | PDB |
| 7R7I | X-ray | 285 A | A/B | 1-530 | PDB |
| 7R7L | X-ray | 300 A | A/B | 1-530 | PDB |
| 7RCT | X-ray | 180 A | A/B | 1-525 | PDB |
| 7TVJ | X-ray | 239 A | A/D | 224-525 | PDB |
| 7VXG | X-ray | 210 A | A/B/C/D | 1-525 | PDB |
| 7XHQ | X-ray | 220 A | A/B | 1-525 | PDB |
| 8B5Y | X-ray | 183 A | A/B | 1-525 | PDB |
| 8CBH | X-ray | 224 A | A/B | 1-525 | PDB |
| 8GWW | X-ray | 300 A | A/B | 1-525 | PDB |
| 8T6D | X-ray | 240 A | A/B | 1-525 | PDB |
| 8T6G | X-ray | 184 A | A/B | 1-525 | PDB |
| 8T7Q | X-ray | 210 A | A/B | 1-525 | PDB |
| 8T8Q | X-ray | 227 A | A/B | 1-525 | PDB |
| 8U7W | X-ray | 205 A | A/B | 1-525 | PDB |
| 8U7X | X-ray | 206 A | A/B | 1-525 | PDB |
| 8WFY | X-ray | 260 A | A/B | 1-525 | PDB |
| AF-Q06124-F1 | Predicted | AlphaFoldDB |
433 variants for Q06124
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000694389 CA256764 VAR_027183 rs267606990 RCV000014277 RCV000033445 RCV000211847 |
2 | T>I | Noonan syndrome 1 (ns1) RASopathy Noonan syndrome Noonan syndrome 1 NS1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA161776 RCV001813381 RCV000261129 RCV000521827 rs587778635 RCV000318336 RCV000766661 RCV000121911 RCV000353569 |
18 | N>S | LEOPARD syndrome 1 Noonan syndrome and Noonan-related syndrome RASopathy Metachondromatosis Noonan syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2037994433 RCV001253203 |
31 | A>G | LEOPARD syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10603228 RCV000265572 rs886041585 RCV001528118 |
39 | G>R | LEOPARD syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397507501 RCV000227194 RCV000157002 RCV000157675 VAR_015601 CA235307 |
42 | T>A | RASopathy Noonan syndrome NS1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000121912 rs587778636 CA161779 RCV001854672 |
50 | A>T | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000033452 rs397507503 RCV000037621 CA261555 |
52 | T>I | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA243707917 rs1052382672 RCV000531774 |
56 | I>T | RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000557839 RCV000154561 CA180973 RCV000518841 rs397507504 |
56 | I>V | RASopathy Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1358883 CA261558 RCV000234028 RCV000033455 rs397507505 RCV000037627 RCV000768061 |
58 | N>D | RASopathy Noonan syndrome large_intestine Noonan syndrome 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000037626 rs397507505 RCV000157676 RCV000456871 CA235310 |
58 | N>H | Noonan syndrome RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_027184 COSM1358884 RCV000211846 CA261561 RCV000515267 rs397507506 RCV000037630 RCV000588173 RCV000033457 |
58 | N>K | RASopathy Noonan syndrome large_intestine Noonan syndrome 1 Noonan syndrome 3 (ns3) NS1 [ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000587067 COSM1358884 RCV000157677 rs397507506 RCV000556984 RCV000037629 CA235313 |
58 | N>K | Noonan syndrome RASopathy large_intestine Noonan syndrome 3 Noonan syndrome 3 (ns3) [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA6798530 rs751437780 RCV000413828 RCV000691488 |
58 | N>S | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA297070 RCV001174933 rs397507505 RCV000159042 COSM13032 |
58 | N>Y | RASopathy haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000390743 CA10605950 VAR_066060 rs886043790 |
59 | T>A | NS1 [UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
COSM13028 VAR_015990 rs397507509 CA284662 RCV000414941 RCV000049228 |
60 | G>V | Noonan syndrome 1 (ns1) Noonan syndrome 1 myelodysplastic syndrome haematopoietic_and_lymphoid_tissue [Ensembl, ClinVar, UniProt, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs80338836 RCV000014274 |
60 | G>missing | Noonan syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000033461 RCV000459297 RCV000416546 rs397507509 VAR_015602 COSM13037 CA261562 RCV000037631 |
60 | G>A | Noonan syndrome 1 (ns1) RASopathy Noonan syndrome Noonan syndrome 1 haematopoietic_and_lymphoid_tissue NS1 [Ensembl, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV001815530 RCV001268963 rs397507509 |
60 | G>D | Noonan syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000413720 COSM13010 CA16042862 rs397507507 RCV001201204 |
60 | G>R | RASopathy haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000151684 rs397507507 CA235370 RCV000157700 |
60 | G>S | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000033460 rs397507508 |
60 | G>V | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA273600 RCV000156008 rs121918461 RCV000780656 |
61 | D>A | Noonan syndrome 1 (ns1) RASopathy Noonan syndrome Juvenile myelomonocytic leukemia (jmml) [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121918461 CA177665 COSM14269 VAR_015603 |
61 | D>G | Noonan syndrome 1 (ns1) large_intestine Juvenile myelomonocytic leukemia (jmml) haematopoietic_and_lymphoid_tissue NS1 [Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
COSM20900 RCV000033462 RCV000589874 rs397507510 CA282070 |
61 | D>H | Noonan syndrome 3 Juvenile myelomonocytic leukemia (jmml) haematopoietic_and_lymphoid_tissue Noonan syndrome 3 (ns3) [ClinVar, Ensembl, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000586404 RCV000599619 VAR_015604 COSM13012 RCV000576434 CA235316 RCV000033463 rs397507510 RCV000157678 |
61 | D>N | Noonan syndrome RASopathy Noonan syndrome 3 Noonan syndrome 1 Juvenile myelomonocytic leukemia (jmml) haematopoietic_and_lymphoid_tissue Noonan syndrome 3 (ns3) NS1 [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
VAR_015991 CA282073 COSM13022 rs121918461 RCV000687319 |
61 | D>V | JMML; also in myelodysplastic syndrome Noonan syndrome 1 (ns1) RASopathy Juvenile myelomonocytic leukemia (jmml) haematopoietic_and_lymphoid_tissue [UniProt, Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV001090939 CA10576907 VAR_015992 COSM13011 rs397507510 RCV000215649 |
61 | D>Y | JMML autonomic_ganglia large_intestine Juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia (jmml) haematopoietic_and_lymphoid_tissue Noonan syndrome 3 (ns3) [UniProt, Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
VAR_015605 rs121918460 CA234749 |
62 | Y>D | Noonan syndrome 1 (ns1) NS1; also in Noonan patients manifesting juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia (jmml) [Ensembl, UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV002052009 rs121918460 RCV002001115 CA282076 |
62 | Y>N | Noonan syndrome 1 (ns1) RASopathy Noonan syndrome 1 Juvenile myelomonocytic leukemia (jmml) [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs121918459 COSM13038 VAR_015606 CA220146 |
63 | Y>C | Noonan syndrome 1 (ns1) large_intestine haematopoietic_and_lymphoid_tissue Noonan syndrome 3 (ns3) NS1 [Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM13013 CA354979 rs397507511 RCV001250211 RCV000210038 VAR_015993 |
69 | E>K | JMML; also in myelodysplastic syndrome large_intestine central_nervous_system soft_tissue Noonan syndrome 1 haematopoietic_and_lymphoid_tissue [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP |
|
RCV000212889 CA261565 RCV000037633 rs397507511 VAR_027185 RCV000033469 |
69 | E>Q | Noonan syndrome RASopathy NS1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP |
|
RCV000151687 CA177668 RCV000589756 rs727503380 |
69 | E>V | Noonan syndrome Noonan syndrome 3 Noonan syndrome 3 (ns3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516801 CA261568 RCV000206837 RCV000037634 RCV000405696 |
70 | K>R | RASopathy Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA273215 COSM13029 RCV000686123 COSM13039 RCV000586528 RCV000033470 VAR_015995 RCV000151689 rs397507512 COSM13024 |
71 | F>L | NS1; also found in myelodysplastic syndrome Noonan syndrome RASopathy large_intestine Noonan syndrome 3 haematopoietic_and_lymphoid_tissue small_intestine Noonan syndrome 3 (ns3) [UniProt, ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM13029 COSM13039 RCV000534502 CA386777847 rs1555267558 COSM13024 RCV000593077 |
71 | F>L | RASopathy large_intestine haematopoietic_and_lymphoid_tissue small_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM13035 RCV000440942 RCV000420417 CA16602941 RCV000441142 rs121918454 RCV000430256 |
72 | A>D | Noonan syndrome 1 (ns1) Neoplasm of brain autonomic_ganglia B-cell chronic lymphocytic leukemia Neuroblastoma haematopoietic_and_lymphoid_tissue Noonan syndrome 3 (ns3) Acute myeloid leukemia [Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000587329 RCV000157006 RCV000515213 VAR_015607 rs121918454 RCV000014253 CA235319 RCV000157679 RCV000707460 |
72 | A>G | Noonan syndrome 1 (ns1) Noonan syndrome RASopathy Noonan syndrome 3 Noonan syndrome 1 Noonan syndrome 3 (ns3) NS1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001852674 RCV000033472 rs121918453 CA261571 RCV000588856 RCV000037635 |
72 | A>P | Noonan syndrome 1 (ns1) RASopathy Noonan syndrome Noonan syndrome 3 Juvenile myelomonocytic leukemia (jmml) Noonan syndrome 3 (ns3) [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000014252 RCV000212890 rs121918453 RCV000033471 VAR_015608 CA256749 RCV000576667 RCV000762883 RCV000157001 |
72 | A>S | Noonan syndrome 1 (ns1) Noonan syndrome RASopathy Noonan syndrome 1 Juvenile myelomonocytic leukemia (jmml) Noonan syndrome 3 (ns3) NS1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000425277 RCV000435950 RCV001813395 RCV000417864 RCV000995620 COSM13014 RCV000443279 RCV000680626 RCV000824740 VAR_015996 CA180706 rs121918453 RCV000154367 |
72 | A>T | JMML Noonan syndrome and Noonan-related syndrome B-cell chronic lymphocytic leukemia Noonan syndrome 1 Neuroblastoma small_intestine Noonan syndrome 3 (ns3) Noonan syndrome 1 (ns1) Neoplasm of brain RASopathy autonomic_ganglia Juvenile myelomonocytic leukemia soft_tissue Juvenile myelomonocytic leukemia (jmml) haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [UniProt, ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA215451 VAR_015997 COSM13015 rs121918454 |
72 | A>V | JMML Noonan syndrome 1 (ns1) haematopoietic_and_lymphoid_tissue Noonan syndrome 3 (ns3) [UniProt, Ensembl, Cosmic] | Yes |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
RCV000212891 rs121918462 CA256752 RCV000515312 RCV000033475 RCV000014262 RCV000156985 VAR_015609 COSM13019 |
73 | T>I | Noonan syndrome 1 (ns1) NS1; also in Noonan patients manifesting juvenile myelomonocytic leukemia Noonan syndrome RASopathy Noonan syndrome 1 haematopoietic_and_lymphoid_tissue [Ensembl, UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1555267561 RCV000528111 CA386777884 |
75 | A>P | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000014267 RCV000432192 RCV000444034 rs121918465 COSM13026 RCV000033477 CA123047 RCV000424995 VAR_015998 RCV000424761 RCV000443046 |
76 | E>A | JMML; also in myelodysplastic syndrome Squamous cell lung carcinoma autonomic_ganglia Multiple myeloma central_nervous_system Juvenile myelomonocytic leukemia Neoplasm of the large intestine Juvenile myelomonocytic leukemia (jmml) Neuroblastoma haematopoietic_and_lymphoid_tissue Astrocytoma [UniProt, ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000037639 RCV000762884 RCV000033478 CA261580 RCV000254683 rs397507514 |
76 | E>D | Noonan syndrome RASopathy Noonan syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_015610 RCV000472904 CA261577 RCV000033479 RCV000037638 rs397507514 |
76 | E>D | RASopathy Noonan syndrome NS1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM13017 RCV000427060 RCV000437713 CA123044 VAR_015999 rs121918465 RCV000437931 RCV000014266 RCV000419574 RCV000159046 RCV000420699 |
76 | E>G | JMML Squamous cell lung carcinoma large_intestine Multiple myeloma Juvenile myelomonocytic leukemia Neoplasm of the large intestine Juvenile myelomonocytic leukemia (jmml) Neuroblastoma haematopoietic_and_lymphoid_tissue Astrocytoma [UniProt, ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000156974 RCV000014264 CA123038 RCV000422851 RCV000212892 RCV000439757 RCV000432364 VAR_016000 rs121918464 RCV000033476 RCV000422541 RCV000433549 COSM13000 |
76 | E>K | Multiple myeloma Neuroblastoma JMML; increases protein tyrosine phosphatase activity against CDC73 lung Noonan syndrome Squamous cell lung carcinoma RASopathy large_intestine Juvenile myelomonocytic leukemia Neoplasm of the large intestine Juvenile myelomonocytic leukemia (jmml) haematopoietic_and_lymphoid_tissue Astrocytoma [ClinVar, UniProt, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs121918464 RCV001813410 CA297076 RCV000159045 COSM13016 |
76 | E>Q | Noonan syndrome and Noonan-related syndrome soft_tissue Juvenile myelomonocytic leukemia (jmml) haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001813201 VAR_016001 RCV000014265 RCV000781775 COSM13025 rs121918465 RCV000788241 CA123041 |
76 | E>V | JMML Noonan syndrome and Noonan-related syndrome RASopathy Juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia (jmml) haematopoietic_and_lymphoid_tissue [UniProt, ClinVar, Ensembl, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA261581 rs397516803 RCV000037640 |
79 | Q>K | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000157680 rs121918466 CA235322 RCV000037641 VAR_015611 RCV000515381 RCV000033480 RCV000014268 RCV000590740 |
79 | Q>R | Noonan syndrome 1 (ns1) Noonan syndrome RASopathy Noonan syndrome 3 Noonan syndrome 1 NS1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397507515 RCV000724722 RCV000522529 CA243279 COSM1511133 |
82 | M>V | lung RASopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000024261 CA129805 rs387907158 |
99 | K>* | Metachondromatosis Metachondromatosis (metcds) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA261584 rs397507517 VAR_015612 |
106 | D>A | NS1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000037645 CA261587 rs397507518 RCV000033484 RCV000589214 |
110 | E>K | Noonan syndrome Noonan syndrome 3 Noonan syndrome 3 (ns3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000024257 rs398122859 |
118 | S>missing | Metachondromatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000654924 RCV001813328 CA134665 rs397516805 RCV000037646 RCV000680297 RCV000678902 RCV000621552 |
131 | K>R | Noonan syndrome and Noonan-related syndrome RASopathy Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000024255 rs398122857 |
137 | V>missing | Metachondromatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001235274 rs2038103354 |
137 | V>missing | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267606989 CA123050 RCV000014276 |
138 | R>* | Metachondromatosis Metachondromatosis (metcds) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA261590 COSM13018 rs397507520 VAR_015613 RCV000212894 RCV000033490 |
139 | E>D | Noonan syndrome 1 (ns1) RASopathy Juvenile myelomonocytic leukemia (jmml) haematopoietic_and_lymphoid_tissue NS1 [Ensembl, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1060502527 CA16613668 RCV000472224 |
140 | S>C | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA386781365 RCV001861894 rs1179862540 RCV000681211 |
147 | F>C | RASopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001261105 RCV000121913 RCV000680299 RCV000988913 COSM22468 rs397507521 RCV001852675 CA161782 |
152 | R>H | RASopathy Noonan syndrome Metachondromatosis haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs398122858 RCV000024256 |
153 | T>missing | Metachondromatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000578050 RCV000578106 RCV000577992 rs1555267825 CA386781600 |
158 | G>A | LEOPARD syndrome 1 Metachondromatosis Noonan syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000159047 rs730880992 CA297079 |
163 | G>S | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000037651 RCV001569121 RCV001852783 rs143433437 CA134673 RCV001813330 RCV000157018 |
186 | R>W | Noonan syndrome and Noonan-related syndrome Noonan syndrome RASopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001241165 rs2038125958 |
190 | L>* | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA273218 rs727503381 RCV000151696 RCV000654965 RCV000380092 |
200 | N>Y | Noonan syndrome RASopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2038127324 RCV001211975 |
212 | L>missing | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000597366 RCV001267343 CA6798618 rs768555552 |
218 | T>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001860131 CA386783890 RCV000589400 rs768555552 |
218 | T>S | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000037654 rs397516807 |
220 | R>* | Metachondromatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000157681 CA235325 rs397507523 VAR_027187 RCV000585640 RCV000033497 RCV000506790 |
256 | Q>R | RASopathy Noonan syndrome 1 NS1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000033498 rs397507524 |
257 | Q>missing | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000991102 rs397507524 |
257 | Q>missing | Noonan syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA261591 RCV001002142 RCV000159049 rs397516809 RCV000037656 |
258 | E>D | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001262011 rs1279770165 |
258 | E>K | Noonan syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397507525 RCV000522926 VAR_078101 RCV000157701 RCV000037657 CA235373 |
261 | L>F | RASopathy Noonan syndrome NS1; increases MAPK signaling; increases protein tyrosine phosphatase activity; changed substrate selectivity for GAB1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA6798648 VAR_078102 RCV000697357 rs765642157 |
261 | L>H | NS1; increases MAPK signaling; increased protein tyrosine phosphatase activity RASopathy [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs397507526 RCV000106324 VAR_078104 RCV000526885 CA267615 |
262 | L>R | NS1; increases MAPK signaling; increased protein tyrosine phosphatase activity RASopathy Noonan syndrome 1 [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs376607329 VAR_078105 CA234739 |
265 | R>Q | NS1; increases MAPK signaling; increased protein tyrosine phosphatase activity [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs397507527 RCV000703823 CA261597 RCV000033502 RCV000037660 |
268 | G>C | Noonan syndrome 1 (ns1) Noonan syndrome RASopathy [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397507527 RCV000037659 RCV000587886 RCV000159050 CA261594 |
268 | G>S | Noonan syndrome 1 (ns1) RASopathy Noonan syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000413183 RCV000781774 RCV001261109 CA6798654 rs777603059 |
276 | K>R | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_015614 rs121918456 COSM1731441 CA220149 |
279 | Y>C | Noonan syndrome 1 (ns1) liver NS1 and LPRD1; does not affect subcellular location; decreases protein tyrosine phosphatase activity against CDC73 [Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
RCV000055889 CA344998 VAR_027188 rs121918456 |
279 | Y>S | LEOPARD syndrome 1 Noonan syndrome 1 (ns1) LPRD1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM35820 RCV000033506 rs397507530 RCV000037661 CA261600 |
282 | I>M | Noonan syndrome 1 (ns1) Noonan syndrome central_nervous_system [Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
VAR_015615 rs397507529 CA220152 |
282 | I>V | Noonan syndrome 1 (ns1) NS1 [Ensembl, UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
RCV000033513 CA261603 RCV000212895 rs121918463 RCV000037664 |
285 | F>C | Noonan syndrome 1 (ns1) RASopathy Noonan syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA261606 RCV000687570 RCV000037665 RCV000587757 rs397516810 RCV000159052 |
285 | F>L | Noonan syndrome RASopathy Noonan syndrome 3 Noonan syndrome 3 (ns3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_015617 rs397507531 CA220155 |
285 | F>L | Noonan syndrome 3 (ns3) NS1 [Ensembl, UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
VAR_015616 rs121918463 CA204408 |
285 | F>S | Noonan syndrome 1 (ns1) NS1 [Ensembl, UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA282098 rs397507531 RCV001027842 |
285 | F>V | Noonan syndrome 1 Noonan syndrome 3 (ns3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA297085 rs121918463 RCV001526955 RCV001261017 RCV000159051 |
285 | F>Y | Noonan syndrome 1 (ns1) Noonan syndrome RASopathy [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001850234 RCV001844054 CA297088 RCV000159053 rs572274623 RCV000208167 |
298 | N>S | RASopathy Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA220158 VAR_015619 COSM24612 rs28933386 |
308 | N>D | Noonan syndrome 1 (ns1) NS1; common mutation large_intestine haematopoietic_and_lymphoid_tissue [Ensembl, UniProt, Cosmic] | Yes |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_015618 CA235328 COSM303867 rs121918455 |
308 | N>S | Noonan syndrome 1 (ns1) haematopoietic_and_lymphoid_tissue Noonan syndrome 3 (ns3) NS1; some patients also manifest giant cell lesions of bone and soft tissue [Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
rs121918455 CA261607 COSM1628389 RCV000037668 RCV000033517 |
308 | N>T | Noonan syndrome 1 (ns1) liver Noonan syndrome Noonan syndrome 3 (ns3) [Ensembl, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000988916 RCV001111780 RCV000252493 RCV000151704 rs201787206 RCV000470114 RCV001111781 VAR_015620 CA177674 RCV000589645 RCV001813252 RCV000761037 |
309 | I>V | LEOPARD syndrome 1 Noonan syndrome 1 (ns1) Noonan syndrome and Noonan-related syndrome Noonan syndrome RASopathy NS1; unknown pathological significance Metachondromatosis Noonan syndrome 1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000412738 RCV000719260 CA6798676 RCV000701867 rs774939392 |
311 | M>V | RASopathy History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs968167995 RCV000761000 CA243712000 |
314 | F>L | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000625873 rs1398859175 CA386791125 |
320 | N>S | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA297091 rs730880993 RCV000159054 RCV001850235 |
333 | C>S | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs535800148 RCV000519427 RCV000159507 CA297648 |
343 | R>Q | RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2038533815 RCV001257613 |
347 | Q>R | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
CA282111 rs146571700 RCV000763793 RCV000033523 |
350 | S>A | Noonan syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000521244 rs397507534 RCV001582506 CA282114 RCV000373942 |
351 | R>Q | RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA6798704 rs752392909 RCV000695828 |
353 | I>L | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001868984 CA386775721 RCV000733128 rs1214510641 |
382 | V>I | RASopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2038606313 RCV001238086 |
383 | M>missing | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774356443 RCV000209886 CA357176 RCV001853345 |
392 | A>T | RASopathy Noonan syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000321441 CA6798734 RCV000461011 rs767503386 |
397 | T>M | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000626827 RCV000037608 CA261531 rs201247699 |
409 | G>A | Neurofibroma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001293768 VAR_027189 RCV000014269 RCV001030087 rs121918467 CA256755 RCV001091427 |
411 | T>M | Noonan syndrome 1 (ns1) Acute megakaryoblastic leukemia in down syndrome RASopathy Noonan syndrome 1 NS1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA386777180 rs1592852902 RCV000995622 |
424 | P>L | Noonan syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727505389 CA273717 RCV000157022 |
426 | H>P | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001257612 RCV001879977 rs397507536 |
428 | V>L | Intellectual disability RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001852677 COSM546362 RCV000033528 CA282120 rs397507536 RCV001813255 RCV001818207 RCV001725940 |
428 | V>M | Noonan syndrome and Noonan-related syndrome pancreas RASopathy Noonan syndrome 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs398122860 RCV000024259 |
439 | L>missing | Metachondromatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6798765 RCV000306612 RCV000654964 rs779236638 |
443 | H>Y | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001029946 rs1592852978 |
447 | E>missing | Metachondromatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000722780 RCV001113589 RCV001113590 CA386777696 COSM3935745 RCV001113591 rs1566185599 |
454 | P>L | LEOPARD syndrome 1 oesophagus Metachondromatosis Noonan syndrome 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs397516796 RCV000037610 CA134638 RCV000461820 |
456 | V>M | RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs121918468 CA261537 RCV000033529 RCV000037612 |
461 | A>S | Noonan syndrome with multiple lentigines [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000037611 RCV000033530 RCV000055882 CA261534 rs121918468 COSM1287456 VAR_027190 RCV000529342 |
461 | A>T | LEOPARD syndrome 1 Noonan syndrome with multiple lentigines RASopathy autonomic_ganglia LPRD1 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA220131 VAR_027191 rs121918469 |
464 | G>A | LPRD1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
COSM170715 CA220134 rs121918457 VAR_015621 |
468 | T>M | Noonan syndrome 1 (ns1) large_intestine LPRD1; does not affect subcellular location; decreases protein tyrosine phosphatase activity against CDC73 haematopoietic_and_lymphoid_tissue [Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
rs2038706856 RCV001261995 |
470 | I>T | Noonan syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397507540 RCV000033537 CA261546 RCV000037617 |
491 | P>H | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397507540 RCV000033538 RCV000254685 COSM13034 RCV000156989 CA273407 |
491 | P>L | Noonan syndrome RASopathy skin haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs397507539 COSM13033 RCV000033536 CA261543 RCV000157010 VAR_071706 RCV000254684 |
491 | P>S | Noonan syndrome RASopathy haematopoietic_and_lymphoid_tissue NS1; increased phosphatase activity [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs397507539 RCV000208219 RCV000660240 RCV000694590 RCV000033535 CA261540 |
491 | P>T | RASopathy Noonan syndrome Noonan syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000494687 CA273434 rs397507542 RCV000055886 RCV000033540 VAR_027192 RCV000212896 RCV000626828 |
498 | R>L | LEOPARD syndrome 1 RASopathy Noonan syndrome 1 LPRD1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000033539 CA273451 RCV000722171 RCV000055885 rs397507541 RCV000623675 RCV000254686 VAR_027193 |
498 | R>W | LEOPARD syndrome 1 Noonan syndrome 1 (ns1) RASopathy Noonan syndrome 1 LPRD1; reduced phosphatase activity Inborn genetic diseases [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs397507543 CA261549 VAR_015622 |
501 | R>K | NS1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV001731329 CA273454 RCV000212898 RCV000033542 COSM20901 rs121918458 |
502 | S>A | Noonan syndrome 1 (ns1) RASopathy Juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia (jmml) haematopoietic_and_lymphoid_tissue [Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA180739 RCV000212897 VAR_015623 COSM14258 rs121918458 RCV000033543 RCV001851849 RCV000014260 RCV000156995 |
502 | S>T | Noonan syndrome 1 (ns1) RASopathy Noonan syndrome Juvenile myelomonocytic leukemia Noonan syndrome 1 Juvenile myelomonocytic leukemia (jmml) haematopoietic_and_lymphoid_tissue NS1 [Ensembl, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA250293 COSM13027 RCV000149849 VAR_016002 rs397507546 |
503 | G>A | JMML Noonan syndrome 1 (ns1) RASopathy haematopoietic_and_lymphoid_tissue [UniProt, Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000210040 COSM14259 VAR_016003 RCV000156971 RCV000515165 rs397507545 RCV000033545 CA273459 |
503 | G>R | Noonan syndrome 1 (ns1) Noonan syndrome RASopathy NS1 and JMML; JMML patient also shows growth retardation and pulmonic stenosis Noonan syndrome 1 Juvenile myelomonocytic leukemia (jmml) haematopoietic_and_lymphoid_tissue [Ensembl, ClinVar, UniProt, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000692146 rs1566186833 CA891844000 |
503 | G>R | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000429259 COSM14271 RCV000419381 CA282129 RCV000505671 RCV000439943 RCV000430281 RCV000440091 rs397507546 |
503 | G>V | lung Embryonal rhabdomyosarcoma Noonan syndrome 1 (ns1) Squamous cell lung carcinoma large_intestine Multiple myeloma Gastric adenocarcinoma Neoplasm of the large intestine Lung adenocarcinoma haematopoietic_and_lymphoid_tissue small_intestine [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs397507547 VAR_015624 CA220140 |
504 | M>V | Noonan syndrome 1 (ns1) NS1 [Ensembl, UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV000024258 rs387907157 CA129800 |
506 | Q>* | Metachondromatosis Metachondromatosis (metcds) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1658770 CA284668 RCV000049230 rs397509345 VAR_027194 |
506 | Q>P | RASopathy skin LPRD1; does not affect subcellular location; decreases protein tyrosine phosphatase activity against CDC73 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM1658770 rs397507548 RCV000157683 CA235331 RCV000055887 RCV000154371 RCV000033550 |
506 | Q>P | LEOPARD syndrome 1 Noonan syndrome with multiple lentigines RASopathy skin haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs886039463 RCV001813438 RCV001330779 COSM13036 RCV001376031 RCV000255951 CA10588540 |
507 | T>K | Non-immune hydrops fetalis Noonan syndrome and Noonan-related syndrome autonomic_ganglia central_nervous_system Noonan syndrome 1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000055888 VAR_076499 RCV000033553 RCV000619738 RCV000679882 RCV000589512 RCV000210041 rs397507549 CA273420 |
510 | Q>E | LEOPARD syndrome 1 Noonan syndrome 1 (ns1) RASopathy NS1 and LPRD1; does not affect subcellular location; decreases protein tyrosine phosphatase activity against CDC73 Noonan syndrome 3 Noonan syndrome 1 Noonan syndrome 3 (ns3) [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA256758 rs121918470 VAR_027196 |
510 | Q>P | Noonan syndrome 1 (ns1) Noonan syndrome 3 (ns3) LPRD1 [Ensembl, UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000578115 CA6798810 COSM935284 RCV000577961 RCV000578039 rs191525506 |
527 | R>C | LEOPARD syndrome 1 endometrium Metachondromatosis Noonan syndrome 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001854671 RCV000121910 RCV001813380 rs587778634 CA161773 |
532 | E>K | Noonan syndrome and Noonan-related syndrome RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16042779 rs1057517907 RCV001850985 RCV000413414 RCV001718807 |
548 | S>P | RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001174868 CA6798831 rs767712281 RCV000271291 RCV001855053 |
550 | A>V | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000700110 rs1253971623 CA386783491 |
559 | P>R | RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1060502526 CA16613492 RCV000467826 |
559 | P>S | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA134647 VAR_027197 RCV000037623 RCV000159057 rs397516797 RCV000515375 RCV000157702 |
560 | L>F | RASopathy NS1; unknown pathological significance Noonan syndrome 1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs397516797 RCV001335068 |
560 | L>V | LEOPARD syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA386783662 rs1420924484 RCV000852688 |
569 | C>R | Arrhythmogenic right ventricular cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001198644 rs2038914051 |
580 | Y>C | LEOPARD syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000353023 CA10603227 rs886041517 |
4 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs587781133 CA243702316 |
5 | R>G | No |
ClinGen Ensembl |
|
|
CA243707497 rs79203122 |
6 | W>C | No |
ClinGen Ensembl |
|
|
CA6798503 rs566068139 |
9 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6798504 rs536503257 |
9 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386776143 rs536503257 |
9 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386776141 rs566068139 |
9 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6798505 rs368633510 |
10 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200613531 CA6798506 |
10 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386776154 rs1181579972 |
11 | I>T | No |
ClinGen gnomAD |
|
|
rs1472357430 CA386776151 |
11 | I>V | No |
ClinGen gnomAD |
|
|
CA386776158 rs1386827892 |
12 | T>A | No |
ClinGen gnomAD |
|
|
rs776089364 CA6798508 |
18 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs397507500 CA282061 |
19 | L>R | No |
ClinGen Ensembl |
|
|
CA6798510 rs753951666 |
20 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6798511 rs757537175 |
22 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6798512 rs750261927 |
26 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1247363600 CA386776246 |
26 | D>V | No |
ClinGen gnomAD |
|
|
rs750261927 CA386776243 |
26 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA243707498 rs906966059 |
34 | S>N | No |
ClinGen Ensembl |
|
|
CA243707499 rs934388335 |
35 | K>E | No |
ClinGen gnomAD |
|
|
CA386776304 RCV000681118 rs934388335 |
35 | K>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1337565783 CA386776325 |
37 | N>K | No |
ClinGen gnomAD |
|
|
CA134635 RCV000037607 rs397516795 |
40 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1566164987 CA386776360 RCV000680807 |
43 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs765495843 CA6798527 |
48 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1261667540 CA386777492 |
55 | K>R | No |
ClinGen TOPMed |
|
|
rs397507507 CA215448 |
60 | G>C | No |
ClinGen Ensembl |
|
|
RCV000412983 CA16042833 rs1057517935 |
61 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA243707919 rs1013419211 |
62 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
RCV000413931 COSM13038 rs1057517917 CA16042834 |
63 | Y>C | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs755709231 CA6798531 |
71 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs397507512 RCV000159044 CA297073 |
71 | F>V | Noonan syndrome 3 (ns3) [Ensembl] | No |
ClinGen ClinVar Ensembl dbSNP |
|
CA261574 rs397516802 |
73 | T>L | No |
ClinGen Ensembl |
|
|
CA282079 RCV000033474 rs397507513 |
73 | T>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1456360392 CA386777886 |
75 | A>G | No |
ClinGen gnomAD |
|
|
rs748952554 CA6798533 |
79 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs753788277 CA243707920 |
82 | M>I | No |
ClinGen Ensembl |
|
|
rs1403012975 CA386777961 |
82 | M>K | No |
ClinGen gnomAD |
|
|
CA386777974 rs1319495648 |
83 | E>K | No |
ClinGen gnomAD |
|
|
CA243707921 rs925129380 |
86 | G>R | No |
ClinGen TOPMed |
|
|
CA243707922 rs925129380 |
86 | G>W | No |
ClinGen TOPMed |
|
|
RCV000210044 rs869312744 CA354982 |
91 | K>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA386778165 rs1225001423 |
93 | G>R | No |
ClinGen TOPMed |
|
|
rs397507516 CA282082 RCV000033482 |
97 | E>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs747470140 CA6798534 |
101 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs747300372 CA243707924 |
104 | C>R | No |
ClinGen Ensembl |
|
|
rs397507519 CA282085 RCV000033485 |
110 | E>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA386778519 RCV000681127 rs1566167244 |
110 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000680951 rs1053009990 CA386780489 |
116 | H>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA386780511 rs1482410266 |
116 | H>Q | No |
ClinGen gnomAD |
|
|
RCV000594318 CA386780510 rs1482410266 |
116 | H>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1053009990 CA243708210 |
116 | H>Y | No |
ClinGen gnomAD |
|
|
COSM201196 CA6798547 rs755619262 RCV000288839 |
123 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs1401305712 CA386780861 |
129 | K>E | No |
ClinGen TOPMed |
|
|
CA386781162 rs1385944040 |
138 | R>Q | No |
ClinGen gnomAD |
|
|
COSM13018 CA177671 rs397507520 |
139 | E>D | Noonan syndrome 1 (ns1) Juvenile myelomonocytic leukemia (jmml) haematopoietic_and_lymphoid_tissue [Ensembl, Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1296689385 CA386781273 |
143 | H>R | No |
ClinGen gnomAD |
|
|
CA243708215 rs202026962 |
151 | V>A | No |
ClinGen 1000Genomes |
|
|
rs768927453 CA6798551 |
151 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA386781454 rs1395524782 |
152 | R>C | No |
ClinGen TOPMed |
|
|
rs1380290210 CA386781474 |
153 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs376027245 CA6798552 RCV000521157 |
154 | G>A | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA243708216 rs200712424 |
156 | D>G | No |
ClinGen 1000Genomes |
|
|
CA386781536 rs200712424 |
156 | D>V | No |
ClinGen 1000Genomes |
|
|
CA386781562 rs1315568280 |
157 | K>R | No |
ClinGen gnomAD |
|
|
rs769848611 CA6798553 |
159 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1044076600 CA243708217 |
160 | S>N | No |
ClinGen Ensembl |
|
|
rs730880992 CA386781748 |
163 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386781830 rs1460204712 |
167 | V>A | No |
ClinGen gnomAD |
|
|
rs1566168783 RCV000681427 |
169 | H>missing | No |
ClinVar dbSNP |
|
|
rs545138829 CA6798555 |
173 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs369155025 CA243708219 |
173 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6798556 rs369155025 |
173 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369155025 RCV000521204 CA386781928 |
173 | R>P | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
CA386781932 rs1324123217 |
174 | C>Y | No |
ClinGen gnomAD |
|
|
rs1168475393 CA386781938 |
175 | Q>E | No |
ClinGen gnomAD |
|
|
rs1290487642 CA386782131 |
176 | E>G | No |
ClinGen gnomAD |
|
|
CA6798575 rs760660964 |
177 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1238453850 CA386782279 |
184 | G>R | No |
ClinGen TOPMed |
|
|
rs1566169411 CA386782297 |
185 | E>Q | No |
ClinGen Ensembl |
|
|
CA6798578 rs764663951 |
186 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1436513335 CA386782360 |
188 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
RCV000522506 rs1555267939 CA386782349 |
188 | D>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000781777 rs1555267939 CA386782347 |
188 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6798579 rs79068130 COSM147613 |
189 | S>A | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA243708323 rs370763866 |
191 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs370763866 CA6798580 |
191 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1488672907 CA386782388 |
192 | D>Y | No |
ClinGen gnomAD |
|
|
rs753107691 CA6798581 |
195 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1181200121 CA386782408 |
195 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
COSM147614 CA6798582 rs76982592 |
197 | Y>* | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1266830703 CA386782427 |
197 | Y>C | No |
ClinGen gnomAD |
|
|
rs745331641 CA243708324 |
211 | Q>L | No |
ClinGen Ensembl |
|
|
CA6798617 rs747243342 |
217 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1201590326 CA386783891 |
218 | T>K | No |
ClinGen gnomAD |
|
|
CA6798619 rs780911423 |
220 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA134676 RCV000037653 rs397516806 |
221 | I>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA297082 RCV000159048 rs397516806 |
221 | I>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs748085966 RCV000658340 CA6798620 |
228 | S>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA386784184 rs1239878972 |
230 | V>I | No |
ClinGen gnomAD |
|
|
CA386784201 rs1223522089 |
231 | R>Q | No |
ClinGen TOPMed |
|
|
rs730881220 CA297645 RCV000159506 |
234 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6798643 rs773918720 |
253 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6798645 rs771672596 |
255 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1391791847 CA386788423 |
256 | Q>E | No |
ClinGen gnomAD |
|
|
CA386788421 rs1391791847 RCV000680808 |
256 | Q>K | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA386788469 rs1279770165 |
258 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1378752914 CA386788544 |
259 | C>* | No |
ClinGen gnomAD |
|
|
rs773417679 CA6798647 |
260 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765642157 RCV000354323 CA10603294 |
261 | L>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA6798649 rs397507526 |
262 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA6798650 RCV000681136 rs763617831 |
263 | Y>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1193712005 CA386788643 |
264 | S>T | No |
ClinGen gnomAD |
|
|
rs376607329 RCV000681121 CA386788665 |
265 | R>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs917536914 CA243710343 |
266 | K>R | No |
ClinGen Ensembl |
|
|
CA6798652 rs755104848 |
267 | E>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000179850 rs794727858 CA247155 |
269 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6798653 rs752966396 |
272 | E>K | No |
ClinGen ExAC |
|
|
rs1167080618 CA386788849 |
275 | N>H | No |
ClinGen gnomAD |
|
|
CA282095 rs397507528 |
275 | N>T | Noonan syndrome 1 (ns1) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
RCV000349409 CA10603177 rs886041495 |
282 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6798657 rs778374689 |
283 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA386789047 rs397507531 RCV000788225 |
285 | F>I | Noonan syndrome 3 (ns3) [Ensembl] | No |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000037666 rs397516811 CA134683 |
286 | D>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA386790488 rs1566181003 |
289 | R>S | No |
ClinGen Ensembl |
|
|
CA386790498 rs1340811351 |
290 | V>A | No |
ClinGen gnomAD |
|
|
rs1555269782 CA386790490 RCV000590078 |
290 | V>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000320986 rs117730996 CA6798673 |
293 | H>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA386790541 rs1283049536 |
293 | H>Y | No |
ClinGen gnomAD |
|
|
CA6798674 rs746607246 |
294 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs376007642 CA243711916 |
294 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs376007642 CA243711919 |
294 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1485809548 CA386790612 |
297 | P>A | No |
ClinGen gnomAD |
|
|
CA243711925 rs1044269059 |
298 | N>D | No |
ClinGen Ensembl |
|
|
rs888674339 CA386790676 |
300 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs888674339 CA243711930 |
300 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA243711935 rs1002196930 |
304 | Y>D | No |
ClinGen Ensembl |
|
|
rs730880995 RCV000159058 CA297100 |
305 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs201226824 CA6798677 RCV000979042 |
311 | M>T | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1340471856 CA386790978 |
312 | P>A | No |
ClinGen TOPMed |
|
|
CA386790985 rs1294377445 |
312 | P>L | No |
ClinGen TOPMed |
|
|
CA6798690 rs547041954 |
316 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6798692 rs747815170 |
318 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs771407775 CA386791112 |
319 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386791109 rs1333826013 |
319 | N>S | No |
ClinGen TOPMed |
|
|
CA6798694 rs779400765 |
323 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779400765 CA386791176 |
323 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001193712 CA6798696 rs772684421 |
324 | K>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1028787542 CA243712018 |
327 | Y>C | No |
ClinGen TOPMed |
|
|
CA6798697 rs369430257 |
328 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6798698 rs760769867 |
329 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386791368 rs1592847614 |
334 | L>Q | No |
ClinGen Ensembl |
|
|
RCV000377606 rs886041622 CA10603230 |
335 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA243712024 rs964758446 |
337 | T>M | No |
ClinGen Ensembl |
|
|
RCV000619897 rs1373621596 CA386791486 |
343 | R>W | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1317602687 CA386791508 |
345 | V>M | No |
ClinGen TOPMed |
|
|
CA386791556 rs1287780991 |
348 | E>V | No |
ClinGen gnomAD |
|
|
CA243712035 rs1032908020 |
349 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
RCV000413347 rs923052172 CA16042873 |
351 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA386791608 rs397507534 |
351 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767192602 CA6798703 |
352 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs755871216 CA6798705 |
357 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386791722 rs1337767914 |
361 | E>Q | No |
ClinGen TOPMed |
|
|
rs988676659 CA243712056 |
364 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386775448 RCV000781776 rs1566183223 |
365 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs758737605 CA6798725 |
368 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1555270113 CA386775560 RCV000599235 |
371 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA386775583 rs1338792040 |
373 | D>N | No |
ClinGen gnomAD |
|
|
CA6798726 rs780328721 |
374 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs397507535 CA282117 |
374 | E>Q | No |
ClinGen Ensembl |
|
|
rs41299183 RCV000037606 CA134632 |
375 | Y>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1566183260 CA386775638 |
376 | A>G | No |
ClinGen Ensembl |
|
|
rs1444455893 CA386775694 |
380 | Y>C | No |
ClinGen TOPMed |
|
|
CA386775729 rs1592850296 |
382 | V>A | No |
ClinGen Ensembl |
|
|
rs1260386432 CA386775740 |
383 | M>T | No |
ClinGen gnomAD |
|
|
COSM935281 rs748162361 CA6798729 |
384 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
rs769798916 CA6798730 |
385 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6798731 RCV000412775 rs749523268 |
388 | V>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA386775887 rs1214118543 |
393 | A>T | No |
ClinGen gnomAD |
|
|
CA386775906 rs1415532476 RCV000520163 |
394 | H>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA386776006 rs767503386 |
397 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243711117 rs888186656 |
404 | S>P | No |
ClinGen Ensembl |
|
|
rs760221298 CA6798736 |
406 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592850347 CA386776083 |
406 | V>I | No |
ClinGen Ensembl |
|
|
CA6798753 rs121918467 |
411 | T>K | Noonan syndrome 1 (ns1) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6798754 rs761510407 |
413 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1055526692 CA243713007 |
413 | R>S | No |
ClinGen Ensembl |
|
|
CA386776970 rs1193000800 |
414 | T>M | No |
ClinGen gnomAD |
|
|
CA386777057 rs1306943402 |
419 | H>Y | No |
ClinGen gnomAD |
|
|
RCV000587432 rs1420362815 CA386777113 |
421 | R>Q | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1355732645 RCV000523921 CA386777108 |
421 | R>W | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA386777266 rs1458141683 |
428 | V>A | No |
ClinGen gnomAD |
|
|
CA6798760 rs756647576 |
429 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1178602062 CA386777284 |
430 | S>R | No |
ClinGen gnomAD |
|
|
CA243713056 rs1054802954 |
435 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6798766 rs746112827 |
449 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1165173231 CA386777653 |
452 | A>S | No |
ClinGen gnomAD |
|
|
CA386777669 rs1464947249 |
453 | G>R | No |
ClinGen gnomAD |
|
|
CA6798768 rs397516796 |
456 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1592853023 CA386777757 |
457 | V>G | No |
ClinGen Ensembl |
|
|
CA180970 RCV000154559 rs727504393 |
458 | H>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000614347 COSM935282 CA284665 rs397509344 |
461 | A>G | endometrium [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000254759 rs886039711 CA10588539 |
468 | T>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA282123 rs397507537 |
468 | T>P | No |
ClinGen Ensembl |
|
|
rs779978269 CA6798783 |
470 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386778463 rs1276701553 |
476 | I>T | No |
ClinGen gnomAD |
|
|
rs1320374464 CA386778534 |
478 | I>V | No |
ClinGen gnomAD |
|
|
RCV000518952 CA386778570 rs1555270590 |
479 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6798785 rs754837922 |
480 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs397507538 CA282126 |
485 | D>Y | No |
ClinGen Ensembl |
|
|
rs730880994 CA297094 |
487 | D>G | No |
ClinGen Ensembl |
|
|
rs781083623 CA6798803 |
490 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs397507539 CA297097 |
491 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6798804 rs756104635 |
495 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA243714432 rs1019884653 |
496 | M>V | No |
ClinGen Ensembl |
|
|
CA386779815 rs1264992160 |
499 | S>C | No |
ClinGen gnomAD |
|
|
RCV000781772 rs1566186813 CA386779812 |
499 | S>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1173984843 CA386779826 RCV001264424 |
500 | Q>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA261552 rs397507544 COSM13023 |
502 | S>L | lung haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs397507546 COSM13021 CA282132 |
503 | G>E | Noonan syndrome 1 (ns1) large_intestine haematopoietic_and_lymphoid_tissue [Ensembl, Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA220137 COSM14259 rs397507545 |
503 | G>R | Noonan syndrome 1 (ns1) Juvenile myelomonocytic leukemia (jmml) haematopoietic_and_lymphoid_tissue [Ensembl, Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA386779861 rs1379175668 |
504 | M>I | No |
ClinGen gnomAD |
|
|
COSM1318058 CA386779921 rs397507550 |
510 | Q>H | central_nervous_system haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM1318058 rs397507550 CA220143 |
510 | Q>H | central_nervous_system haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM13031 CA282135 rs397507549 |
510 | Q>K | Noonan syndrome 1 (ns1) haematopoietic_and_lymphoid_tissue Noonan syndrome 3 (ns3) [Ensembl, Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs121918470 CA256761 |
510 | Q>R | Noonan syndrome 1 (ns1) Noonan syndrome 3 (ns3) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs994514579 CA243714583 |
516 | M>T | No |
ClinGen gnomAD |
|
|
rs773825880 CA6798807 |
516 | M>V | No |
ClinGen ExAC |
|
|
CA386780000 rs1488010874 |
518 | V>F | No |
ClinGen TOPMed |
|
|
rs1592854657 CA386780002 |
518 | V>G | No |
ClinGen Ensembl |
|
|
CA386780043 rs1365861378 |
522 | I>V | No |
ClinGen gnomAD |
|
|
RCV000681078 CA386780067 rs1566186902 |
523 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1389060443 CA386780061 |
523 | E>G | No |
ClinGen gnomAD |
|
|
CA6798809 rs777116808 |
526 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs770363146 CA6798811 |
527 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs397507551 CA282138 |
532 | E>G | No |
ClinGen Ensembl |
|
|
rs954561196 CA243723292 |
535 | S>R | No |
ClinGen Ensembl |
|
|
rs1415569303 CA386783061 |
537 | R>K | No |
ClinGen gnomAD |
|
|
rs994138881 CA243723300 |
539 | G>W | No |
ClinGen TOPMed |
|
|
COSM1358902 rs186919241 CA6798829 |
541 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC |
|
RCV000424480 rs1057520397 CA16606472 |
543 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6798830 rs759551230 |
548 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1048909771 CA243723338 |
550 | A>T | No |
ClinGen Ensembl |
|
|
CA386783390 rs148176616 |
553 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM327247 rs148176616 CA134644 |
553 | T>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1555271397 CA386783407 RCV000658375 |
554 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6798833 rs753741561 |
557 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1024227490 CA243723357 RCV001174786 |
557 | Q>K | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs763926088 CA6798832 |
557 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA180941 rs141140214 |
561 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1238697234 CA386783543 |
563 | C>Y | No |
ClinGen gnomAD |
|
|
rs779810329 CA6798835 |
564 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315318035 CA386783580 |
565 | P>Q | No |
ClinGen TOPMed |
|
|
CA6798837 rs746712068 |
566 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150730493 CA282141 |
566 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746712068 CA6798836 |
566 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386783713 rs1592862763 |
571 | E>G | No |
ClinGen Ensembl |
|
|
rs1415602777 CA386784141 |
572 | M>T | No |
ClinGen TOPMed |
|
|
CA134653 RCV000037625 rs397516799 |
575 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs781006724 CA6798854 |
576 | S>N | No |
ClinGen ExAC |
|
|
CA243725192 rs754106920 |
576 | S>R | No |
ClinGen Ensembl |
|
|
rs567223058 CA6798855 |
577 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757593532 CA6798856 |
578 | R>I | No |
ClinGen ExAC |
|
|
CA6798858 rs746410911 |
579 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs963465148 CA243725246 |
583 | V>M | No |
ClinGen TOPMed |
|
|
rs1283260430 CA386784728 |
588 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6798861 rs768805690 |
589 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1205297900 CA386784878 |
593 | R>G | No |
ClinGen gnomAD |
4 associated diseases with Q06124
[MIM: 151100]: LEOPARD syndrome 1 (LPRD1)
A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. {ECO:0000269|PubMed:12058348, ECO:0000269|PubMed:14961557, ECO:0000269|PubMed:15121796, ECO:0000269|PubMed:15389709, ECO:0000269|PubMed:15520399, ECO:0000269|PubMed:15690106, ECO:0000269|PubMed:16679933, ECO:0000269|PubMed:16733669, ECO:0000269|PubMed:24891296, ECO:0000269|PubMed:26742426}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 163950]: Noonan syndrome 1 (NS1)
A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS1 develop multiple giant cell lesions of the jaw or other bony or soft tissues, which are classified as pigmented villonodular synovitis (PVNS) when occurring in the jaw or joints. {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12161469, ECO:0000269|PubMed:12325025, ECO:0000269|PubMed:12529711, ECO:0000269|PubMed:12634870, ECO:0000269|PubMed:12717436, ECO:0000269|PubMed:12739139, ECO:0000269|PubMed:12960218, ECO:0000269|PubMed:15384080, ECO:0000269|PubMed:15889278, ECO:0000269|PubMed:15948193, ECO:0000269|PubMed:19020799, ECO:0000269|PubMed:24891296, ECO:0000269|PubMed:28074573}. Note=The disease is caused by variants affecting the gene represented in this entry. Mutations in PTPN11 account for more than 50% of the cases.
[MIM: 607785]: Leukemia, juvenile myelomonocytic (JMML)
An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. {ECO:0000269|PubMed:12717436, ECO:0000269|PubMed:26742426}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 156250]: Metachondromatosis (MC)
A skeletal disorder with radiologic features of both multiple exostoses and Ollier disease, characterized by the presence of exostoses, commonly of the bones of the hands and feet, and enchondromas of the metaphyses of long bones and iliac crest. {ECO:0000269|PubMed:20577567}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. {ECO:0000269|PubMed:12058348, ECO:0000269|PubMed:14961557, ECO:0000269|PubMed:15121796, ECO:0000269|PubMed:15389709, ECO:0000269|PubMed:15520399, ECO:0000269|PubMed:15690106, ECO:0000269|PubMed:16679933, ECO:0000269|PubMed:16733669, ECO:0000269|PubMed:24891296, ECO:0000269|PubMed:26742426}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS1 develop multiple giant cell lesions of the jaw or other bony or soft tissues, which are classified as pigmented villonodular synovitis (PVNS) when occurring in the jaw or joints. {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12161469, ECO:0000269|PubMed:12325025, ECO:0000269|PubMed:12529711, ECO:0000269|PubMed:12634870, ECO:0000269|PubMed:12717436, ECO:0000269|PubMed:12739139, ECO:0000269|PubMed:12960218, ECO:0000269|PubMed:15384080, ECO:0000269|PubMed:15889278, ECO:0000269|PubMed:15948193, ECO:0000269|PubMed:19020799, ECO:0000269|PubMed:24891296, ECO:0000269|PubMed:28074573}. Note=The disease is caused by variants affecting the gene represented in this entry. Mutations in PTPN11 account for more than 50% of the cases.
- An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. {ECO:0000269|PubMed:12717436, ECO:0000269|PubMed:26742426}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A skeletal disorder with radiologic features of both multiple exostoses and Ollier disease, characterized by the presence of exostoses, commonly of the bones of the hands and feet, and enchondromas of the metaphyses of long bones and iliac crest. {ECO:0000269|PubMed:20577567}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for Q06124
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Tyrosine-specific protein phosphatase, PTPase domain | 246 - 523 | IPR000242 |
| domain | Tyrosine-specific protein phosphatases domain | 436 - 512 | IPR000387 |
| domain | SH2 domain | 4 - 102 | IPR000980-1 |
| domain | SH2 domain | 110 - 216 | IPR000980-2 |
| domain | Protein-tyrosine phosphatase, catalytic | 414 - 520 | IPR003595 |
| active_site | Protein-tyrosine phosphatase, active site | 457 - 467 | IPR016130 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.48 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR46559 | TYROSINE-PROTEIN PHOSPHATASE NON-RECEPTOR TYPE 11 |
| PANTHER Subfamily | PTHR46559:SF1 | TYROSINE-PROTEIN PHOSPHATASE NON-RECEPTOR TYPE 11 |
| PANTHER Protein Class |
protein phosphatase
protein modifying enzyme |
|
| PANTHER Pathway Category |
CCKR signaling map SHP-2 FGF signaling pathway SHP2 Angiogenesis SHP2 Interferon-gamma signaling pathway PTP |
|
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
12 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| cell adhesion molecule binding | Binding to a cell adhesion molecule. |
| insulin receptor binding | Binding to an insulin receptor. |
| non-membrane spanning protein tyrosine phosphatase activity | Catalysis of the reaction: non-membrane spanning protein tyrosine phosphate + H2O = non-membrane spanning protein tyrosine + phosphate. |
| peptide hormone receptor binding | Binding to a receptor for a peptide hormone. |
| phosphoprotein phosphatase activity | Catalysis of the reaction: a phosphoprotein + H2O = a protein + phosphate. Together with protein kinases, these enzymes control the state of phosphorylation of cellular proteins and thereby provide an important mechanism for regulating cellular activity. |
| phosphotyrosine residue binding | Binding to a phosphorylated tyrosine residue within a protein. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein tyrosine kinase binding | Binding to protein tyrosine kinase. |
| protein tyrosine phosphatase activity | Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate. |
| receptor tyrosine kinase binding | Binding to a receptor that possesses protein tyrosine kinase activity. |
| signaling receptor complex adaptor activity | The binding activity of a molecule that provides a physical support for the assembly of a multiprotein receptor signaling complex. |
53 GO annotations of biological process
| Name | Definition |
|---|---|
| abortive mitotic cell cycle | A cell cycle in which mitosis is begun and progresses normally through the end of anaphase, but not completed, resulting in a cell with increased ploidy. |
| atrioventricular canal development | The progression of the atrioventricular canal over time, from its formation to the mature structure. The atrioventricular canal is the part of the heart connecting the atrium to the cardiac ventricle. |
| axonogenesis | De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells. |
| Bergmann glial cell differentiation | The process in which neuroepithelial cells of the neural tube give rise to Brgmann glial cells, specialized bipotential progenitors cells of the cerebellum. Differentiation includes the processes involved in commitment of a cell to a specific fate. |
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| cellular response to epidermal growth factor stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epidermal growth factor stimulus. |
| cerebellar cortex formation | The process that gives rise to the cerebellar cortex. This process pertains to the initial formation of a structure from unspecified parts. The cerebellar cortex is a thin mantle of gray matter that covers the surface of each cerebral hemisphere. It has a characteristic morphology with convolutions (gyri) and crevices (sulci) that have specific functions. Six layers of nerve cells and the nerve pathways that connect them comprise the cerebellar cortex. Together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function. |
| cytokine-mediated signaling pathway | The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| DNA damage checkpoint signaling | A signal transduction process that contributes to a DNA damage checkpoint. |
| ephrin receptor signaling pathway | The series of molecular signals initiated by ephrin binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| epidermal growth factor receptor signaling pathway | The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| ERBB signaling pathway | The series of molecular signals initiated by binding of a ligand to a member of the ERBB family of receptor tyrosine kinases on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| face morphogenesis | The process in which the anatomical structures of the face are generated and organized. The face is the ventral division of the head. |
| fibroblast growth factor receptor signaling pathway | The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands. |
| genitalia development | The process whose specific outcome is the progression of the genitalia over time, from its formation to the mature structure. |
| glucose homeostasis | Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| homeostasis of number of cells within a tissue | Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in a tissue. |
| hormone metabolic process | The chemical reactions and pathways involving any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. |
| hormone-mediated signaling pathway | The series of molecular signals mediated by the detection of a hormone. |
| inner ear development | The process whose specific outcome is the progression of the inner ear over time, from its formation to the mature structure. |
| integrin-mediated signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| intestinal epithelial cell migration | The orderly movement of an intestinal epithelial cell from one site to another, often during the development of a multicellular organism. |
| megakaryocyte development | The process whose specific outcome is the progression of a megakaryocyte cell over time, from its formation to the mature structure. Megakaryocyte development does not include the steps involved in committing a cell to a megakaryocyte fate. A megakaryocyte is a giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow. |
| microvillus organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a microvillus, a thin cylindrical membrane-covered projection on the surface of a cell. |
| multicellular organism growth | The increase in size or mass of an entire multicellular organism, as opposed to cell growth. |
| multicellular organismal reproductive process | The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs. |
| negative regulation of cell adhesion mediated by integrin | Any process that stops, prevents, or reduces the frequency, rate, or extent of cell adhesion mediated by integrin. |
| negative regulation of chondrocyte differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of chondrocyte differentiation. |
| negative regulation of cortisol secretion | Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of cortisol from a cell. |
| negative regulation of growth hormone secretion | Any process that decreases or stops the frequency, rate or extent of the regulated release of growth hormone from a cell. |
| negative regulation of insulin secretion | Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of insulin. |
| neurotrophin TRK receptor signaling pathway | The series of molecular signals initiated by neurotrophin binding to its receptor on the surface of a target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| organ growth | The increase in size or mass of an organ. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that function together as to perform a specific function. |
| peptidyl-tyrosine dephosphorylation | The removal of phosphoric residues from peptidyl-O-phospho-tyrosine to form peptidyl-tyrosine. |
| platelet formation | The process in which platelets bud from long processes extended by megakaryocytes. |
| platelet-derived growth factor receptor signaling pathway | The series of molecular signals initiated by a ligand binding to a platelet-derived growth factor receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| positive regulation of glucose import | Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. |
| positive regulation of hormone secretion | Any process that activates or increases the frequency, rate or extent of the regulated release of a hormone from a cell. |
| positive regulation of insulin receptor signaling pathway | Any process that increases the frequency, rate or extent of insulin receptor signaling. |
| positive regulation of interferon-beta production | Any process that activates or increases the frequency, rate, or extent of interferon-beta production. |
| positive regulation of interleukin-6 production | Any process that activates or increases the frequency, rate, or extent of interleukin-6 production. |
| positive regulation of mitotic cell cycle | Any process that activates or increases the rate or extent of progression through the mitotic cell cycle. |
| positive regulation of ossification | Any process that activates or increases the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| positive regulation of peptidyl-tyrosine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine. |
| positive regulation of tumor necrosis factor production | Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production. |
| regulation of cell adhesion mediated by integrin | Any process that modulates the frequency, rate, or extent of cell adhesion mediated by integrin. |
| regulation of protein export from nucleus | Any process that modulates the frequency, rate or extent of the directed movement of proteins from the nucleus to the cytoplasm. |
| regulation of protein-containing complex assembly | Any process that modulates the frequency, rate or extent of protein complex assembly. |
| regulation of type I interferon-mediated signaling pathway | Any process that modulates the rate, frequency or extent of a type I interferon-mediated signaling pathway. |
| T cell costimulation | The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation. |
| triglyceride metabolic process | The chemical reactions and pathways involving triglyceride, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triglycerides are important components of plant oils, animal fats and animal plasma lipoproteins. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q90687 | PTPN11 | Tyrosine-protein phosphatase non-receptor type 11 | Gallus gallus (Chicken) | SS |
| P29350 | PTPN6 | Tyrosine-protein phosphatase non-receptor type 6 | Homo sapiens (Human) | EV |
| P29351 | Ptpn6 | Tyrosine-protein phosphatase non-receptor type 6 | Mus musculus (Mouse) | SS |
| P35235 | Ptpn11 | Tyrosine-protein phosphatase non-receptor type 11 | Mus musculus (Mouse) | SS |
| P81718 | Ptpn6 | Tyrosine-protein phosphatase non-receptor type 6 | Rattus norvegicus (Rat) | SS |
| P41499 | Ptpn11 | Tyrosine-protein phosphatase non-receptor type 11 | Rattus norvegicus (Rat) | SS |
| G5EC24 | ptp-2 | Tyrosine-protein phosphatase non-receptor type ptp-2 | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTSRRWFHPN | ITGVEAENLL | LTRGVDGSFL | ARPSKSNPGD | FTLSVRRNGA | VTHIKIQNTG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DYYDLYGGEK | FATLAELVQY | YMEHHGQLKE | KNGDVIELKY | PLNCADPTSE | RWFHGHLSGK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EAEKLLTEKG | KHGSFLVRES | QSHPGDFVLS | VRTGDDKGES | NDGKSKVTHV | MIRCQELKYD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VGGGERFDSL | TDLVEHYKKN | PMVETLGTVL | QLKQPLNTTR | INAAEIESRV | RELSKLAETT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DKVKQGFWEE | FETLQQQECK | LLYSRKEGQR | QENKNKNRYK | NILPFDHTRV | VLHDGDPNEP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VSDYINANII | MPEFETKCNN | SKPKKSYIAT | QGCLQNTVND | FWRMVFQENS | RVIVMTTKEV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ERGKSKCVKY | WPDEYALKEY | GVMRVRNVKE | SAAHDYTLRE | LKLSKVGQGN | TERTVWQYHF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RTWPDHGVPS | DPGGVLDFLE | EVHHKQESIM | DAGPVVVHCS | AGIGRTGTFI | VIDILIDIIR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EKGVDCDIDV | PKTIQMVRSQ | RSGMVQTEAQ | YRFIYMAVQH | YIETLQRRIE | EEQKSKRKGH |
| 550 | 560 | 570 | 580 | 590 | |
| EYTNIKYSLA | DQTSGDQSPL | PPCTPTPPCA | EMREDSARVY | ENVGLMQQQK | SFR |