Q9Y5K6
SS
Gene name |
CD2AP |
Protein name |
CD2-associated protein |
Names |
Adapter protein CMS , Cas ligand with multiple SH3 domains |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23607 |
EC number |
|
Protein Class |
|
Descriptions
The human CIN85 (Cbl-interacting protein of 85 kDa) is a multifunction adapter or scaffolding protein consisting of three SH3 domains in the N-terminal half of the protein connected by unstructured linkers followed by a proline rich region, a serine rich region, and a coiled coil domain at the C-terminus and plays important roles in both receptor tyrosine kinase downregulation and phosphatidylinositol 3 kinase inhibition. Prevention of the intramolecular interaction of SH3 domain C with the proline-rich motif P1 results in the complex formation of CIN85 with specific targets such as Cbl or p85 proteins via the SH3 domain C. <br>There are several examples in the literature of SH3 domains adjacent to proline rich motifs, e.g., in tec and in the p85 subunit of PI3-kinase where an interaction is observed between the SH3 domain and the proline rich motifs, either in an intramolecular fashion as in tec kinase or in an intermolecular fashion as in the case of the p85 subunit of PI-3 kinase.
Autoinhibitory domains (AIDs)
Target domain |
273-328 (SH3 domain-containing kinase-binding protein 1, third SH3 domain) |
Relief mechanism |
|
Assay |
|
Accessory elements
No accessory elements
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Philippe D et al. (2011) "Making ends meet: the importance of the N- and C-termini for the structure, stability, and function of the third SH3 domain of CIN85", Biochemistry, 50, 3649-59
Autoinhibited structure
Activated structure
13 structures for Q9Y5K6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2FEI | NMR | - | A | 111-166 | PDB |
| 2J6F | X-ray | 170 A | A | 1-62 | PDB |
| 2J6K | X-ray | 278 A | A/B/C/D/E/F/G/H/I/J/K/L | 1-62 | PDB |
| 2J6O | X-ray | 222 A | A | 1-62 | PDB |
| 2J7I | X-ray | 290 A | A/B | 1-62 | PDB |
| 3AA6 | X-ray | 190 A | C | 485-507 | PDB |
| 3LK4 | X-ray | 199 A | 0/3/6/9/C/F/I/L/O/R/U/X | 475-503 | PDB |
| 3U23 | X-ray | 111 A | A | 109-168 | PDB |
| 4WCI | X-ray | 165 A | A/C/E | 1-60 | PDB |
| 4X1V | X-ray | 158 A | A | 109-168 | PDB |
| 7DS6 | X-ray | 169 A | C | 496-507 | PDB |
| 7DS8 | X-ray | 195 A | C | 485-495 | PDB |
| AF-Q9Y5K6-F1 | Predicted | AlphaFoldDB |
517 variants for Q9Y5K6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002486119 RCV001295753 rs367952819 CA3843878 |
9 | D>G | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001328639 rs1766948408 |
60 | E>missing | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142628238 RCV002558585 RCV001238098 RCV001164056 CA3843917 |
61 | T>M | Focal segmental glomerulosclerosis 3, susceptibility to Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3843926 RCV001164057 rs758523796 |
74 | R>M | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000345067 CA10622291 rs886061518 |
109 | K>R | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000314591 rs886061519 CA10624211 |
134 | I>N | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA3843975 RCV000398351 rs747832531 |
134 | I>V | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001164058 rs570511925 CA3844002 |
151 | N>S | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs762020246 CA3844010 RCV002486245 RCV001316803 |
174 | H>P | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000366891 CA10622292 rs886061520 |
177 | Q>R | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3844031 rs142643033 RCV000998617 RCV000299295 |
185 | A>S | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs864622037 RCV000204091 CA348348 RCV001853280 |
187 | P>L | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001029994 CA363942203 rs1582577489 |
224 | S>P | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001312520 RCV000735688 rs150851309 CA3844055 |
228 | R>W | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs757507978 RCV002479314 CA3844084 RCV001050799 |
244 | P>S | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1034978918 CA137941730 RCV001160500 |
253 | K>E | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs776297606 RCV001197381 RCV001383450 |
256 | S>missing | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001861657 CA3844128 RCV000455918 RCV001328640 rs141778404 VAR_087609 |
301 | K>M | Focal segmental glomerulosclerosis 3, susceptibility to found in patients with steroid-resistant nephrotic syndrome; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000378792 RCV001295491 CA3844164 rs140188898 |
331 | L>H | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000268001 RCV000962155 RCV002294165 VAR_087610 CA3844238 RCV000254368 rs138727736 |
374 | T>A | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA363946912 rs149300022 RCV001160504 |
383 | A>E | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3844247 rs141881558 RCV000320812 RCV002058616 |
394 | P>Q | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002553979 CA3844296 rs764233188 RCV001065762 |
430 | V>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1562050952 RCV000779510 |
460 | D>missing | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001318254 CA3844342 rs143297472 CA3844343 RCV002493665 |
496 | M>I | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA363940787 RCV000786942 rs1582617802 |
506 | N>D | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000786900 RCV000289260 rs545551160 RCV001348903 |
525 | E>missing | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001164152 rs1332219962 |
532 | P>S | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3844426 rs200024855 RCV000311582 |
551 | T>A | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000350207 rs146444716 RCV001522041 CA3844431 |
558 | A>V | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3844435 rs372234258 RCV000914255 RCV002502756 |
566 | P>S | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs34069459 VAR_033672 RCV000969513 RCV000247037 CA3844443 RCV002294167 |
581 | N>K | Kidney disorder [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002504752 RCV001366653 RCV000006058 rs267606710 CA117701 |
612 | R>* | Focal segmental glomerulosclerosis 3 Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002294168 RCV000398184 RCV000973383 CA3844505 RCV000250382 rs116754410 |
633 | K>R | Focal segmental glomerulosclerosis 3, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs767423641 CA3843876 |
4 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs891177463 CA137928798 |
5 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 6 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413605047 COSM1197127 CA363940130 |
8 | Y>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3843877 rs752519964 |
9 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3843880 rs777711947 |
10 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1406338206 CA363940140 |
10 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 17 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363940210 rs1467340171 |
19 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1374303674 CA363940212 |
20 | I>V | No |
ClinGen TOPMed |
|
|
rs559978848 CA363940220 |
21 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3843882 RCV001261433 rs559978848 COSM279716 RCV001417655 |
21 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1215288604 CA363940230 |
23 | G>R | No |
ClinGen gnomAD |
|
|
CA363940261 RCV001343913 rs1283834941 |
27 | R>S | No |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
|
rs746124377 CA3843884 |
29 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3843885 rs772360705 |
36 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363940340 rs1562005979 |
39 | E>K | No |
ClinGen Ensembl |
|
|
rs1482597215 CA363940348 |
40 | G>R | No |
ClinGen gnomAD |
|
|
rs780521436 CA3843886 |
42 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780521436 CA363940378 |
42 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769243431 CA3843888 |
43 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3843890 rs762501100 |
47 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs772572598 CA3843889 COSM4153440 |
47 | G>R | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs770594307 CA3843891 |
48 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA3843893 rs759554468 |
48 | M>SKI* | No |
ClinGen ExAC gnomAD |
|
|
rs370673360 CA3843892 |
48 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770594307 CA363940458 |
48 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3843896 rs759274707 |
50 | P>T | No |
ClinGen ExAC |
|
|
rs767203625 CA3843897 |
51 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001102537 CA137928903 |
52 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764144193 CA3843900 |
54 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1032565761 CA137928933 |
55 | K>E | No |
ClinGen Ensembl |
|
|
CA3843901 rs151118470 |
55 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1263740097 CA363938478 |
56 | E>V | No |
ClinGen TOPMed |
|
|
rs935899240 CA137913925 |
57 | I>S | No |
ClinGen TOPMed |
|
|
rs1228469179 CA363938496 |
59 | R>G | No |
ClinGen TOPMed |
|
|
rs142628238 CA363938514 |
61 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 62 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363938528 rs1582525109 |
63 | F>S | No |
ClinGen Ensembl |
|
|
CA363938536 rs1338100926 |
64 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3843918 rs771797788 |
65 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3843919 rs146865776 |
66 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760472244 CA137913952 |
68 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs760472244 CA3843920 |
68 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA137913980 rs200440845 |
69 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA363938571 rs200440845 |
69 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3843921 rs763829568 |
70 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA3843922 rs776488418 |
71 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776488418 CA363938581 |
71 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141213621 CA3843924 |
72 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761757240 CA3843923 |
72 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA363938607 rs1385951157 |
75 | H>R | No |
ClinGen gnomAD |
|
|
rs1301913077 CA363938610 |
76 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 77 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332707136 CA363938618 |
77 | N>Y | No |
ClinGen gnomAD |
|
|
rs1287206715 CA363938624 |
78 | V>L | No |
ClinGen gnomAD |
|
|
CA137914009 rs867256100 |
79 | A>T | No |
ClinGen TOPMed |
|
|
rs751759223 CA3843928 |
81 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs755302778 CA3843929 |
82 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487716938 CA363938657 |
83 | Q>R | No |
ClinGen gnomAD |
|
|
rs368795308 CA3843930 |
84 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3843932 rs371293071 |
84 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3843931 rs371293071 COSM279717 |
84 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1180618067 CA363938667 |
85 | I>T | No |
ClinGen gnomAD |
|
|
CA3843933 rs565667264 |
85 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3843934 rs745421771 |
86 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1472958227 CA363938678 |
87 | T>A | No |
ClinGen gnomAD |
|
|
rs1348301607 CA363938686 |
88 | Y>C | No |
ClinGen gnomAD |
|
|
rs1293857106 CA363938690 |
89 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 89 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs900180348 CA137914062 |
90 | L>I | No |
ClinGen Ensembl |
|
|
CA363938702 rs1360673535 |
91 | P>A | No |
ClinGen TOPMed |
|
|
CA137914067 rs140968071 COSM110165 |
91 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs775171218 CA363938709 |
92 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA3843936 rs775171218 |
92 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1273508514 CA363938708 |
92 | A>S | No |
ClinGen gnomAD |
|
|
rs1379855438 CA363938714 |
93 | G>A | No |
ClinGen TOPMed |
|
|
CA137914102 rs960974702 |
93 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1562020088 CA363938724 |
95 | I>V | No |
ClinGen Ensembl |
|
|
rs776473074 CA3843939 |
98 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA363938746 rs776473074 |
98 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3843938 rs768444308 |
98 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1330323668 CA363938753 |
99 | P>R | No |
ClinGen TOPMed |
|
|
rs374695299 CA3843941 |
102 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA363938772 rs1245024342 |
102 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773153532 CA3843942 |
103 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA3843943 rs763045932 |
104 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149246024 CA3843944 |
104 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763045932 CA363938784 |
104 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751746319 CA3843945 |
105 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755212218 CA3843946 |
106 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1767317688 RCV001337771 |
108 | T>I | No |
ClinVar dbSNP |
|
|
CA3843965 rs767908402 |
109 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs752979654 CA3843966 |
111 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs192679464 CA3843967 |
111 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1165446922 CA363939138 |
116 | L>F | No |
ClinGen TOPMed |
|
|
rs764581347 CA363939166 |
120 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3843968 rs764581347 |
120 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3843969 rs754319192 |
121 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1338314912 CA363939206 |
125 | D>V | No |
ClinGen gnomAD |
|
|
rs757748915 CA3843970 |
126 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs779581496 CA3843971 |
127 | L>P | No |
ClinGen ExAC TOPMed |
|
|
CA137920182 rs886061519 |
134 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1399206193 CA363939266 |
135 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA363939285 rs1204329937 |
137 | I>S | No |
ClinGen gnomAD |
|
|
rs1311692590 CA363939281 |
137 | I>V | No |
ClinGen gnomAD |
|
|
CA363939290 rs1265265485 |
138 | N>S | No |
ClinGen gnomAD |
|
|
rs1463742229 CA363939304 |
140 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780705647 CA3843996 |
141 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs527243987 CA3843998 |
143 | E>D | No |
ClinGen 1000Genomes ExAC |
|
|
CA3843997 rs560006896 |
143 | E>G | No |
ClinGen 1000Genomes ExAC |
|
|
rs777620356 CA3843999 |
147 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA363939563 rs1471976944 |
147 | S>N | No |
ClinGen gnomAD |
|
|
rs1263194527 CA363939594 |
150 | L>P | No |
ClinGen TOPMed |
|
|
rs745830059 CA3844003 |
152 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750946190 CA137926274 |
156 | L>R | No |
ClinGen Ensembl |
|
|
rs772227398 CA3844005 |
157 | F>L | No |
ClinGen ExAC |
|
|
rs775759148 CA3844006 |
158 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA363939759 rs1326120994 |
166 | E>Q | No |
ClinGen gnomAD |
|
|
CA363939766 rs1280386296 |
166 | E>V | No |
ClinGen gnomAD |
|
|
CA3844008 rs769062684 COSM1742959 |
168 | T>A | biliary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs776930343 CA3844009 |
169 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1288940714 CA363939828 |
172 | E>G | No |
ClinGen gnomAD |
|
|
CA363939839 rs1311372350 |
173 | T>I | No |
ClinGen TOPMed |
|
|
CA3844011 rs765668592 |
174 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363939866 rs1249448032 |
176 | A>T | No |
ClinGen gnomAD |
|
|
rs760969524 CA3844012 |
180 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 181 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1287326218 CA363941733 |
182 | T>I | No |
ClinGen TOPMed |
|
|
rs1454752506 CA363941739 |
183 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs138163915 CA3844030 |
184 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363941766 rs142643033 |
185 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363941789 rs1450559718 |
186 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs373030099 CA3844032 |
188 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3844033 rs774852008 |
190 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs867687839 CA137940117 |
191 | I>V | No |
ClinGen Ensembl |
|
|
CA3844034 rs760110147 |
193 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763690363 CA3844035 |
194 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA363941912 rs1322855891 |
195 | G>E | No |
ClinGen TOPMed |
|
|
rs751286070 CA3844037 |
195 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs999078911 CA137940128 |
197 | V>L | No |
ClinGen TOPMed |
|
|
CA3844039 rs750307379 |
199 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 202 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363942025 rs1374235828 |
202 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA363942031 rs1582577350 |
203 | G>E | No |
ClinGen Ensembl |
|
|
rs1375230299 CA363942081 |
208 | P>S | No |
ClinGen gnomAD |
|
|
CA363942105 rs1477098584 |
210 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 210 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3844044 rs754966889 |
212 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3844043 rs754966889 |
212 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3844046 rs770123305 |
213 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA363942137 rs1318775027 |
214 | I>T | No |
ClinGen gnomAD |
|
|
rs749595817 CA3844048 |
215 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3844049 rs771289707 |
216 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs139926926 CA3844051 |
220 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA137940218 COSM451597 rs1045885305 |
224 | S>C | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA3844053 rs776242797 |
225 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs761363856 CA3844054 |
226 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3844056 rs756790635 |
228 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3844057 rs762800934 |
229 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs762800934 CA363942228 |
229 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA363942233 rs1582577571 |
230 | R>G | No |
ClinGen Ensembl |
|
|
CA363942260 rs1365666306 |
233 | S>N | No |
ClinGen TOPMed |
|
|
CA3844060 rs149993734 COSM3703019 |
234 | S>R | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs996699348 CA137940312 |
236 | T>A | No |
ClinGen Ensembl |
|
|
CA3844062 rs752880361 |
236 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1388283601 CA363942329 |
239 | K>E | No |
ClinGen TOPMed gnomAD |
|
| rs150959557 | 240 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363942358 rs1303688571 |
241 | P>L | No |
ClinGen gnomAD |
|
|
rs756161725 CA363942353 |
241 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA3844063 rs756161725 |
241 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA363942363 rs1346858710 |
242 | E>* | No |
ClinGen gnomAD |
|
|
rs777904060 CA3844064 |
243 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs746297717 CA363942733 |
248 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3844088 rs780574436 |
252 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 255 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1254275176 CA363942782 |
256 | S>I | No |
ClinGen gnomAD |
|
|
rs1279052773 CA363942788 |
257 | V>A | No |
ClinGen TOPMed |
|
|
rs747496653 COSM3777723 CA3844090 |
258 | E>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA137941750 rs935665835 |
259 | I>V | No |
ClinGen TOPMed |
|
|
CA363942808 rs1386833385 |
260 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 261 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769409950 CA3844092 |
263 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1373510658 CA363942834 |
264 | T>N | No |
ClinGen TOPMed |
|
|
CA3844094 rs199622885 |
265 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770767773 CA3844095 |
266 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392879851 CA363942845 |
266 | G>S | No |
ClinGen TOPMed |
|
|
CA3844096 rs773889150 |
267 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 267 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3844097 rs759309620 |
268 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025608540 CA137941768 |
269 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs767246659 CA3844099 |
270 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs764073537 CA3844119 |
271 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1242453878 CA363942892 |
271 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 272 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755821785 CA137942084 |
274 | C>F | No |
ClinGen gnomAD |
|
| TCGA novel | 274 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776558624 CA3844120 |
276 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1373038045 CA566933793 |
278 | F>* | No |
ClinGen gnomAD |
|
|
rs765702919 CA3844123 |
280 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252909349 CA363942966 |
282 | G>C | No |
ClinGen TOPMed |
|
|
CA3844124 rs763126675 |
282 | G>D | No |
ClinGen ExAC |
|
|
CA363942964 rs1252909349 |
282 | G>S | No |
ClinGen TOPMed |
|
|
rs1562040331 CA363942975 |
284 | N>H | No |
ClinGen Ensembl |
|
|
CA137942122 rs147947745 |
287 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA3844125 rs377092939 |
288 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752029188 CA3844126 |
288 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs369753088 CA137942138 |
294 | E>D | No |
ClinGen ESP |
|
|
CA363943046 rs1319464087 |
294 | E>K | No |
ClinGen TOPMed |
|
|
CA3844127 rs755408892 |
297 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1318122792 CA363943081 |
299 | I>L | No |
ClinGen gnomAD |
|
|
CA363943585 rs1375273345 |
305 | E>K | No |
ClinGen gnomAD |
|
|
CA363943634 rs1224603280 |
308 | W>* | No |
ClinGen gnomAD |
|
|
rs1224603280 CA363943636 |
308 | W>C | No |
ClinGen gnomAD |
|
|
rs1290991548 CA363943625 |
308 | W>R | No |
ClinGen gnomAD |
|
|
rs1360128185 CA363943631 |
308 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3844157 rs778481750 |
309 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA363943657 rs1436651704 |
310 | R>G | No |
ClinGen gnomAD |
|
|
CA363943685 rs147188917 |
312 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs543532433 CA137943638 |
312 | E>D | No |
ClinGen Ensembl |
|
|
COSM389567 rs147188917 CA3844159 |
312 | E>K | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs779504309 CA3844160 |
315 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA363943735 rs1562041405 |
316 | K>E | No |
ClinGen Ensembl |
|
|
rs1182173062 CA363943741 |
316 | K>R | No |
ClinGen gnomAD |
|
|
CA363943757 rs1312748972 |
317 | E>G | No |
ClinGen TOPMed |
|
|
CA363943751 rs1235258739 |
317 | E>K | No |
ClinGen TOPMed |
|
|
CA363943764 rs1384978905 |
318 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1221833190 CA363943774 |
318 | G>V | No |
ClinGen TOPMed |
|
|
rs1582584361 CA363943785 |
319 | V>G | No |
ClinGen Ensembl |
|
|
rs374532164 CA3844161 |
322 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1425910028 CA363943819 |
322 | D>Y | No |
ClinGen gnomAD |
|
|
CA137943674 rs377756180 |
323 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA137943671 rs931626305 |
323 | N>Y | No |
ClinGen TOPMed |
|
|
RCV001325476 rs1768411066 |
326 | V>I | No |
ClinVar dbSNP |
|
|
CA363943892 rs1329817675 |
327 | Q>H | No |
ClinGen gnomAD |
|
|
rs1356457317 CA363943922 |
330 | E>K | No |
ClinGen gnomAD |
|
|
CA363943940 rs1314176360 |
331 | L>F | No |
ClinGen gnomAD |
|
|
CA3844165 rs769681987 |
333 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3844166 rs773216411 |
333 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1479134846 CA363943991 |
335 | F>L | No |
ClinGen TOPMed |
|
|
CA137943683 rs1041594438 |
336 | P>A | No |
ClinGen TOPMed |
|
|
rs915684224 CA137944598 |
337 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 339 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260051380 CA363944710 |
339 | K>R | No |
ClinGen gnomAD |
|
|
CA3844188 rs749272191 |
341 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA137944629 rs373177642 |
342 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs770895414 CA3844189 |
342 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774612078 CA3844190 |
344 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363944772 rs774612078 |
344 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137944633 rs868582537 |
344 | P>T | No |
ClinGen Ensembl |
|
|
rs1336976111 CA363944783 |
345 | A>G | No |
ClinGen TOPMed |
|
|
CA363944774 rs1479462596 |
345 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1562042119 CA363944799 |
346 | K>N | No |
ClinGen Ensembl |
|
|
CA3844193 rs772479408 |
347 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137945454 rs948956063 |
350 | P>S | No |
ClinGen gnomAD |
|
|
rs1335565298 CA363944946 |
351 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1445209588 CA363944967 |
353 | E>K | No |
ClinGen TOPMed |
|
|
CA3844212 rs780094912 |
353 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA363945014 rs1367941072 |
356 | A>G | No |
ClinGen TOPMed |
|
|
CA363945021 rs747275271 |
357 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3844213 rs747275271 |
357 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs768878089 CA3844214 |
357 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA137945494 rs550863556 |
358 | E>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs777122961 CA3844215 |
360 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3844217 rs144903299 |
367 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363945198 rs928920231 CA137945525 |
369 | K>N | No |
ClinGen TOPMed |
|
|
CA3844236 COSM4155242 rs560966029 |
370 | D>G | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3844235 rs560966029 |
370 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1169191391 CA363946830 |
371 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs771541056 CA3844237 |
372 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs546896725 CA137958223 |
374 | T>I | No |
ClinGen 1000Genomes |
|
|
CA363946854 rs1198633372 |
375 | L>V | No |
ClinGen TOPMed |
|
|
CA363946880 rs1489823627 |
378 | K>R | No |
ClinGen TOPMed |
|
|
rs1334206997 CA363946894 |
380 | S>F | No |
ClinGen gnomAD |
|
|
rs1404379648 CA363946908 |
382 | P>L | No |
ClinGen gnomAD |
|
|
CA3844239 rs149300022 |
383 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs923236047 CA137958241 |
384 | A>T | No |
ClinGen Ensembl |
|
|
CA363946933 rs1316385249 |
387 | V>I | No |
ClinGen TOPMed |
|
|
CA3844242 rs761656861 |
388 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144542576 CA3844243 |
389 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363946946 rs1295019907 |
389 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 390 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758447553 CA3844245 |
390 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs779987473 CA3844246 |
392 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA363946969 rs867333326 |
393 | T>A | No |
ClinGen gnomAD |
|
|
rs867333326 CA137958333 |
393 | T>P | No |
ClinGen gnomAD |
|
|
CA137958340 rs148125704 |
394 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA137958358 rs906119921 |
395 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1379497991 CA363946991 |
397 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3844251 rs756448414 |
399 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs756448414 CA363947006 |
399 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA363947026 rs2039503 |
402 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200798500 CA3844253 |
403 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1288732903 CA363947050 |
406 | G>E | No |
ClinGen gnomAD |
|
|
CA3844254 CA363947049 rs144590370 |
406 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1276054257 CA363947054 |
407 | T>A | No |
ClinGen gnomAD |
|
|
rs1485376538 CA363947058 |
407 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1485376538 CA363947057 |
407 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3844261 rs774732241 |
409 | Y>H | No |
ClinGen ExAC |
|
|
CA3844263 rs768081296 |
410 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs994227233 CA137958418 |
410 | P>L | No |
ClinGen gnomAD |
|
|
rs1323153426 CA363947077 |
411 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 411 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220020518 CA363947085 |
412 | R>* | No |
ClinGen gnomAD |
|
|
CA137958431 rs1025417758 |
412 | R>Q | No |
ClinGen TOPMed |
|
|
CA363947104 rs1208879540 |
415 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1280548494 CA363947106 |
415 | K>I | No |
ClinGen gnomAD |
|
|
CA137958436 rs554577509 |
416 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1214996949 CA363947126 |
418 | P>L | No |
ClinGen gnomAD |
|
|
CA3844264 rs182833071 |
419 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 419 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1582605095 CA363947133 |
420 | P>A | No |
ClinGen Ensembl |
|
|
rs761603787 CA3844265 |
420 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1192567784 CA363947152 |
423 | I>T | No |
ClinGen gnomAD |
|
|
rs377006635 CA3844267 |
423 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1173259038 | 425 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363939334 rs1353017712 |
427 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1441721261 CA363939337 |
427 | N>S | No |
ClinGen gnomAD |
|
|
CA363939336 rs1441721261 |
427 | N>T | No |
ClinGen gnomAD |
|
|
CA363939335 rs1353017712 |
427 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3844294 rs756196985 |
428 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA363939342 rs756196985 |
428 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA3844297 rs147537850 |
431 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757591994 CA3844298 |
432 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3844299 rs199547303 |
433 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1270240579 CA363939386 |
435 | S>* | No |
ClinGen gnomAD |
|
|
CA3844300 rs750907570 |
436 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1387523872 CA363939400 |
437 | F>S | No |
ClinGen Ensembl |
|
|
rs758892279 CA3844301 |
440 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs747597366 CA3844303 |
441 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3844304 rs769463474 |
442 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1562050895 CA363939448 |
444 | K>N | No |
ClinGen Ensembl |
|
|
rs748941769 CA3844306 |
445 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363939450 rs1562050903 |
445 | L>V | No |
ClinGen Ensembl |
|
|
CA363939469 rs1165122387 |
448 | D>G | No |
ClinGen gnomAD |
|
|
CA363939467 rs61747098 |
448 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA137922055 rs61747098 |
448 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs770728754 CA3844307 |
449 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1769049212 RCV001325324 |
451 | Q>H | No |
ClinVar dbSNP |
|
|
rs1409675432 CA363939522 |
452 | L>P | No |
ClinGen gnomAD |
|
|
CA137922062 rs139390657 |
453 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs1298959959 CA363939597 |
457 | K>E | No |
ClinGen gnomAD |
|
|
CA363939636 CA3844308 rs774081495 |
459 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3844309 rs759506071 |
461 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3844310 rs771937457 |
465 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA137922073 rs978352961 |
465 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3844312 rs150046838 |
466 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764180278 CA3844313 |
467 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1582609505 CA363939811 |
469 | S>C | No |
ClinGen Ensembl |
|
|
rs940356500 CA137922087 |
470 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA363940553 rs1315767017 |
473 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA363940565 rs1363164299 |
474 | V>F | No |
ClinGen gnomAD |
|
|
CA363940578 rs1403959518 |
475 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1332067335 CA363940590 |
476 | N>S | No |
ClinGen gnomAD |
|
|
rs1235841268 CA363940607 |
478 | D>E | No |
ClinGen gnomAD |
|
|
CA137926155 rs751844168 |
478 | D>H | No |
ClinGen Ensembl |
|
|
CA3844337 rs762078976 |
479 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3844338 rs765312040 |
480 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217911406 CA363940621 |
480 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 483 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288340486 CA363940646 |
484 | E>D | No |
ClinGen gnomAD |
|
|
CA363940673 rs1269468899 |
488 | H>Y | No |
ClinGen TOPMed |
|
|
CA363940681 rs1437681570 |
489 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750692695 CA3844339 |
490 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3844340 rs763364546 |
491 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs766903995 CA3844341 |
492 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327964248 CA363940698 |
492 | N>S | No |
ClinGen TOPMed |
|
|
CA137926228 rs868349472 |
494 | P>T | No |
ClinGen Ensembl |
|
|
CA363940734 rs1388247056 |
497 | P>L | No |
ClinGen TOPMed |
|
|
CA363940731 rs1379394219 |
497 | P>S | No |
ClinGen gnomAD |
|
|
rs1293791192 CA363940765 |
502 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA363940762 rs1292909222 |
502 | P>T | No |
ClinGen TOPMed |
|
|
COSM74071 CA3844349 rs758166745 |
504 | R>C | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3844350 rs779860972 |
504 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3844351 rs746941830 |
506 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363940796 rs1312073805 |
507 | G>D | No |
ClinGen gnomAD |
|
|
CA363940802 rs1345794208 |
508 | G>E | No |
ClinGen gnomAD |
|
|
CA363940809 rs1244200788 |
509 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1244200788 CA363940808 |
509 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1409978970 CA363940807 |
509 | H>Y | No |
ClinGen TOPMed |
|
|
rs1313191652 CA363941383 |
512 | T>A | No |
ClinGen TOPMed |
|
|
rs1169575788 CA363941414 |
514 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA363941425 rs1423939517 |
514 | S>N | No |
ClinGen gnomAD |
|
|
rs1373494017 CA363941443 |
515 | P>L | No |
ClinGen TOPMed |
|
|
rs1466820776 CA363941437 |
515 | P>S | No |
ClinGen gnomAD |
|
|
CA363941432 rs1466820776 |
515 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 516 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3844378 rs749511546 |
516 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs777493828 CA137927471 |
518 | I>N | No |
ClinGen Ensembl |
|
|
CA137927476 rs905688755 |
519 | L>F | No |
ClinGen Ensembl |
|
|
CA3844379 rs771223661 |
520 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137927481 rs552974591 |
521 | L>* | No |
ClinGen 1000Genomes |
|
|
rs1562054766 CA363941572 |
523 | K>E | No |
ClinGen Ensembl |
|
|
CA363941600 rs1381491970 |
523 | K>N | No |
ClinGen gnomAD |
|
|
CA137927518 rs201251439 |
525 | E>D | No |
ClinGen Ensembl |
|
|
rs1398191858 CA363941632 |
525 | E>G | No |
ClinGen gnomAD |
|
|
CA3844382 rs142570426 |
527 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767943739 CA3844383 |
530 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA363941791 rs1332219962 |
532 | P>A | No |
ClinGen gnomAD |
|
|
CA137927554 rs984392214 |
533 | S>Y | No |
ClinGen TOPMed |
|
|
CA137927561 rs896511050 |
534 | E>K | No |
ClinGen gnomAD |
|
|
CA3844387 rs764649544 |
535 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762462951 CA3844390 |
538 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs779712608 | 538 | D>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762462951 CA3844389 |
538 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205835288 CA363941976 |
539 | T>A | No |
ClinGen TOPMed |
|
|
rs751236543 CA3844391 |
540 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA363942053 rs754708249 |
541 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754708249 CA3844392 |
541 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363942068 rs1432944433 |
542 | S>F | No |
ClinGen gnomAD |
|
|
CA363942094 rs1177475053 |
544 | K>E | No |
ClinGen gnomAD |
|
|
rs1226148502 CA363942264 |
545 | P>T | No |
ClinGen gnomAD |
|
|
rs772396255 CA3844423 |
546 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3844424 rs757930895 |
547 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA137928347 rs890648805 |
549 | L>V | No |
ClinGen Ensembl |
|
|
CA363942360 rs1178615996 |
551 | T>I | No |
ClinGen gnomAD |
|
|
CA3844428 rs762348849 |
552 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777102694 CA3844427 |
552 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773908718 CA3844430 |
554 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 556 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363942408 rs1164600460 |
556 | S>A | No |
ClinGen TOPMed |
|
|
CA363942423 rs146444716 |
558 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1045739970 CA137928358 |
559 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA363942428 rs1159652349 |
559 | N>S | No |
ClinGen TOPMed |
|
|
CA3844433 rs775040657 |
560 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176396963 CA363942435 |
560 | T>I | No |
ClinGen TOPMed |
|
|
CA3844434 rs760472374 |
561 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA363942445 rs1331742354 |
562 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 562 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363942459 rs1165396954 |
564 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 568 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs753793812 CA3844436 |
568 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs757326814 CA3844437 |
569 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA363942497 rs1255731868 |
570 | K>Q | No |
ClinGen gnomAD |
|
|
rs140800708 CA137928416 |
571 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3844438 rs140800708 |
571 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363942512 rs1010631453 |
572 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA137928427 rs1010631453 |
572 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3844439 rs750459384 |
576 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3844440 rs750459384 |
576 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780282108 CA3844441 |
577 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1582621279 CA917741970 |
582 | S>F | No |
ClinGen Ensembl |
|
|
rs879462082 CA137928447 |
582 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs755307455 CA3844444 |
583 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3844445 rs368150114 |
586 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3844446 rs748640676 |
586 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs372358979 CA3844447 |
588 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1434849041 CA363942629 |
590 | I>F | No |
ClinGen TOPMed |
|
|
rs773600809 CA3844448 |
591 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs745345734 CA3844449 |
592 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3844451 rs775183449 |
596 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3844453 rs763973953 |
599 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs763973953 CA363942689 |
599 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1259188067 CA363942698 |
600 | L>R | No |
ClinGen gnomAD |
|
|
CA363943142 rs1455175499 |
603 | D>Y | No |
ClinGen TOPMed |
|
| rs140391156 | 604 | H>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3844459 CA3844460 rs377096139 |
605 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3844479 rs759621262 |
606 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1379209949 CA363944197 |
610 | K>N | No |
ClinGen gnomAD |
|
|
rs1364144634 CA363944192 |
610 | K>R | No |
ClinGen TOPMed |
|
|
CA3844481 rs756452107 COSM1247691 |
612 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3844482 rs778036028 |
617 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA137930527 rs943214396 |
620 | T>A | No |
ClinGen TOPMed |
|
|
rs1332036523 CA363944355 |
620 | T>K | No |
ClinGen gnomAD |
|
|
CA3844484 rs757758775 |
621 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1412825471 CA363944380 |
622 | R>G | No |
ClinGen TOPMed |
|
|
CA137930571 rs756770392 |
623 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1168665049 CA363944397 |
623 | S>R | No |
ClinGen TOPMed |
|
|
rs746452547 CA363944418 |
624 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363944431 rs1209467481 |
624 | N>S | No |
ClinGen gnomAD |
|
|
CA3844486 rs746452547 |
624 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 626 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3844503 rs200226751 |
627 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1458160714 CA363947193 |
628 | E>D | No |
ClinGen gnomAD |
|
|
CA363947199 rs1582637539 |
629 | I>T | No |
ClinGen Ensembl |
|
|
rs1178873971 CA363947202 |
630 | E>K | No |
ClinGen gnomAD |
|
|
CA363947204 rs1178873971 |
630 | E>Q | No |
ClinGen gnomAD |
|
|
rs138027381 CA3844504 |
631 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 635 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3844507 rs201892753 |
637 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747790781 CA3844509 |
639 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 639 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q9Y5K6
[MIM: 607832]: Focal segmental glomerulosclerosis 3 (FSGS3)
A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
4 regional properties for Q9Y5K6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 14 - 272 | IPR000719 |
| active_site | Serine/threonine-protein kinase, active site | 132 - 144 | IPR008271 |
| domain | Calcium/calmodulin-dependent protein kinase II, association-domain | 346 - 473 | IPR013543 |
| binding_site | Protein kinase, ATP binding site | 20 - 43 | IPR017441 |
Functions
19 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| cell leading edge | The area of a motile cell closest to the direction of movement. |
| centriolar satellite | A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| fibrillar center | A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures. |
| filamentous actin | A two-stranded helical polymer of the protein actin. |
| growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
| late endosome | A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center. |
| neuromuscular junction | The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
| nuclear envelope lumen | The region between the two lipid bilayers of the nuclear envelope; 20-40 nm wide. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| podosome | An actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell, contain an F-actin-rich core surrounded by a ring structure containing proteins such as vinculin and talin, and have a diameter of 0.5 mm. |
| ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
| slit diaphragm | A specialized cell-cell junction found between the interdigitating foot processes of the glomerular epithelium (the podocytes) in the vertebrate kidney, which is adapted for facilitating glomerular filtration. |
| trans-Golgi network membrane | The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| clathrin binding | Binding to a clathrin heavy or light chain, the main components of the coat of coated vesicles and coated pits, and which also occurs in synaptic vesicles. |
| identical protein binding | Binding to an identical protein or proteins. |
| phosphatidylinositol 3-kinase regulatory subunit binding | Binding to a regulatory subunit of phosphatidylinositol 3-kinase. The regulatory subunit associates with the catalytic subunit to regulate both its activity and subcellular location. |
| SH3 domain binding | Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins. |
| structural constituent of cytoskeleton | The action of a molecule that contributes to the structural integrity of a cytoskeletal structure. |
53 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking. |
| actin filament polymerization | Assembly of actin filaments by the addition of actin monomers to a filament. |
| adipose tissue development | The process whose specific outcome is the progression of adipose tissue over time, from its formation to the mature structure. Adipose tissue is specialized tissue that is used to store fat. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. |
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| cell-cell adhesion mediated by cadherin | The attachment of one cell to another cell via a cadherin, transmembrane proteins having repeating extracellular calcium ion binding domains. |
| cell-cell junction organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cell-cell junction. A cell-cell junction is a specialized region of connection between two cells. |
| collateral sprouting | The process in which outgrowths develop from the shafts of existing axons. |
| endothelium development | The process whose specific outcome is the progression of an endothelium over time, from its formation to the mature structure. Endothelium refers to the layer of cells lining blood vessels, lymphatics, the heart, and serous cavities, and is derived from bone marrow or mesoderm. Corneal endothelium is a special case, derived from neural crest cells. |
| ERK1 and ERK2 cascade | An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier |
| filopodium assembly | The assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone. |
| glucose import | The directed movement of the hexose monosaccharide glucose into a cell or organelle. |
| immunological synapse formation | The formation of an area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and target cell, which facilitates activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| liver development | The process whose specific outcome is the progression of the liver over time, from its formation to the mature structure. The liver is an exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes. |
| localization of cell | Any process in which a cell is transported to, and/or maintained in, a specific location. |
| lymph node development | The process whose specific outcome is the progression of lymph nodes over time, from their formation to the mature structure. A lymph node is a round, oval, or bean shaped structure localized in clusters along the lymphatic vessels, with a distinct internal structure including specialized vasculature and B- and T-zones for the activation of lymphocytes. |
| maintenance of blood-brain barrier | Maintaining the structure and function of the blood-brain barrier, thus ensuring specific regulated transport of substances (e.g. macromolecules, small molecules, ions) into the brain, and out of the brain into the blood circulation. |
| male gonad development | The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure. |
| membrane organization | A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. |
| negative regulation of neuron apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons. |
| negative regulation of small GTPase mediated signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of small GTPase mediated signal transduction. |
| negative regulation of transforming growth factor beta1 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of production of transforming growth factor-beta1. |
| nerve growth factor signaling pathway | The series of molecular signals initiated by nerve growth factor (NGF) binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| 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. |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. |
| podocyte differentiation | The process in which a relatively unspecialized cell acquires specialized features of a glomerular visceral epithelial cell. A glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells. |
| positive regulation of protein localization to nucleus | Any process that activates or increases the frequency, rate or extent of protein localization to nucleus. |
| positive regulation of protein secretion | Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell. |
| protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
| protein heterooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of component monomers that are not all identical. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| protein secretion | The controlled release of proteins from a cell. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| Rab protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Rab family of proteins switching to a GTP-bound active state. |
| regulation of actin cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| regulation of synaptic plasticity | A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers. |
| renal albumin absorption | A renal system process in which albumin is taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. |
| response to glial cell derived neurotrophic factor | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glial cell derived neurotrophic factor stimulus. |
| response to insulin | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| response to oxidative stress | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| response to transforming growth factor beta | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transforming growth factor beta stimulus. |
| response to virus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. |
| response to wounding | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| stress-activated MAPK cascade | The series of molecular signals in which a stress-activated MAP kinase cascade relays a signal; MAP kinase cascades involve at least three protein kinase activities and culminate in the phosphorylation and activation of a MAP kinase. |
| substrate-dependent cell migration, cell extension | The formation of a cell surface protrusion, such as a lamellipodium or filopodium, at the leading edge of a migrating cell. |
| synapse organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell). |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
| transforming growth factor beta1 production | The appearance of transforming growth factor-beta1 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5HYK7 | SH3D19 | SH3 domain-containing protein 19 | Homo sapiens (Human) | PR |
| Q9Y371 | SH3GLB1 | Endophilin-B1 | Homo sapiens (Human) | PR |
| Q99962 | SH3GL2 | Endophilin-A1 | Homo sapiens (Human) | PR |
| Q99961 | SH3GL1 | Endophilin-A2 | Homo sapiens (Human) | PR |
| Q99963 | SH3GL3 | Endophilin-A3 | Homo sapiens (Human) | PR |
| Q96B97 | SH3KBP1 | SH3 domain-containing kinase-binding protein 1 | Homo sapiens (Human) | EV |
| Q8R550 | Sh3kbp1 | SH3 domain-containing kinase-binding protein 1 | Mus musculus (Mouse) | SS |
| Q9JLQ0 | Cd2ap | CD2-associated protein | Mus musculus (Mouse) | SS |
| F1LRS8 | Cd2ap | CD2-associated protein | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVDYIVEYDY | DAVHDDELTI | RVGEIIRNVK | KLQEEGWLEG | ELNGRRGMFP | DNFVKEIKRE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TEFKDDSLPI | KRERHGNVAS | LVQRISTYGL | PAGGIQPHPQ | TKNIKKKTKK | RQCKVLFEYI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PQNEDELELK | VGDIIDINEE | VEEGWWSGTL | NNKLGLFPSN | FVKELEVTDD | GETHEAQDDS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ETVLAGPTSP | IPSLGNVSET | ASGSVTQPKK | IRGIGFGDIF | KEGSVKLRTR | TSSSETEEKK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PEKPLILQSL | GPKTQSVEIT | KTDTEGKIKA | KEYCRTLFAY | EGTNEDELTF | KEGEIIHLIS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KETGEAGWWR | GELNGKEGVF | PDNFAVQINE | LDKDFPKPKK | PPPPAKAPAP | KPELIAAEKK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YFSLKPEEKD | EKSTLEQKPS | KPAAPQVPPK | KPTPPTKASN | LLRSSGTVYP | KRPEKPVPPP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PPIAKINGEV | SSISSKFETE | PVSKLKLDSE | QLPLRPKSVD | FDSLTVRTSK | ETDVVNFDDI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ASSENLLHLT | ANRPKMPGRR | LPGRFNGGHS | PTHSPEKILK | LPKEEDSANL | KPSELKKDTC |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YSPKPSVYLS | TPSSASKANT | TAFLTPLEIK | AKVETDDVKK | NSLDELRAQI | IELLCIVEAL |
| 610 | 620 | 630 | |||
| KKDHGKELEK | LRKDLEEEKT | MRSNLEMEIE | KLKKAVLSS |