Q92835
PR
Gene name |
INPP5D (SHIP) |
Protein name |
Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 |
Names |
Inositol polyphosphate-5-phosphatase D, Inositol polyphosphate-5-phosphatase of 145 kDa, SIP-145, Phosphatidylinositol 4,5-bisphosphate 5-phosphatase, SH2 domain-containing inositol 5'-phosphatase 1, SH2 domain-containing inositol phosphatase 1, SHIP-1, p150Ship, hp51CN |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3635 |
EC number |
3.1.3.36: Phosphoric monoester hydrolases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
99 structures for Q92835
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2YSX | NMR | - | A | 1-112 | PDB |
| 5RW2 | X-ray | 122 A | A | 397-857 | PDB |
| 5RW3 | X-ray | 137 A | A | 397-857 | PDB |
| 5RW4 | X-ray | 131 A | A | 397-857 | PDB |
| 5RW5 | X-ray | 138 A | A | 397-857 | PDB |
| 5RW6 | X-ray | 132 A | A | 397-857 | PDB |
| 5RW7 | X-ray | 123 A | A | 397-857 | PDB |
| 5RW8 | X-ray | 127 A | A | 397-857 | PDB |
| 5RW9 | X-ray | 145 A | A | 397-857 | PDB |
| 5RWA | X-ray | 129 A | A | 397-857 | PDB |
| 5RWB | X-ray | 125 A | A | 397-857 | PDB |
| 5RWC | X-ray | 140 A | A | 397-857 | PDB |
| 5RWD | X-ray | 129 A | A | 397-857 | PDB |
| 5RWE | X-ray | 134 A | A | 397-857 | PDB |
| 5RWF | X-ray | 135 A | A | 397-857 | PDB |
| 5RWG | X-ray | 146 A | A | 397-857 | PDB |
| 5RWH | X-ray | 156 A | A | 397-857 | PDB |
| 5RWI | X-ray | 129 A | A | 397-857 | PDB |
| 5RWJ | X-ray | 126 A | A | 397-857 | PDB |
| 5RWK | X-ray | 132 A | A | 397-857 | PDB |
| 5RWL | X-ray | 137 A | A | 397-857 | PDB |
| 5RWM | X-ray | 136 A | A | 397-857 | PDB |
| 5RWN | X-ray | 138 A | A | 397-857 | PDB |
| 5RWO | X-ray | 129 A | A | 397-857 | PDB |
| 5RWP | X-ray | 148 A | A | 397-857 | PDB |
| 5RWQ | X-ray | 132 A | A | 397-857 | PDB |
| 5RWR | X-ray | 143 A | A | 397-857 | PDB |
| 5RWS | X-ray | 128 A | A | 397-857 | PDB |
| 5RWT | X-ray | 143 A | A | 397-857 | PDB |
| 5RWU | X-ray | 137 A | A | 397-857 | PDB |
| 5RWV | X-ray | 125 A | A | 397-857 | PDB |
| 5RWW | X-ray | 116 A | A | 397-857 | PDB |
| 5RWX | X-ray | 134 A | A | 397-857 | PDB |
| 5RWY | X-ray | 135 A | A | 397-857 | PDB |
| 5RWZ | X-ray | 142 A | A | 397-857 | PDB |
| 5RX0 | X-ray | 143 A | A | 397-857 | PDB |
| 5RX1 | X-ray | 131 A | A | 397-857 | PDB |
| 5RX2 | X-ray | 127 A | A | 397-857 | PDB |
| 5RX3 | X-ray | 145 A | A | 397-857 | PDB |
| 5RX4 | X-ray | 135 A | A | 397-857 | PDB |
| 5RX5 | X-ray | 128 A | A | 397-857 | PDB |
| 5RX6 | X-ray | 145 A | A | 397-857 | PDB |
| 5RX7 | X-ray | 136 A | A | 397-857 | PDB |
| 5RX8 | X-ray | 134 A | A | 397-857 | PDB |
| 5RX9 | X-ray | 129 A | A | 397-857 | PDB |
| 5RXA | X-ray | 124 A | A | 397-857 | PDB |
| 5RXB | X-ray | 158 A | A | 397-857 | PDB |
| 5RXC | X-ray | 159 A | A | 397-857 | PDB |
| 5RXD | X-ray | 133 A | A | 397-857 | PDB |
| 5RXE | X-ray | 125 A | A | 397-857 | PDB |
| 5RXF | X-ray | 126 A | A | 397-857 | PDB |
| 5RXG | X-ray | 152 A | A | 397-857 | PDB |
| 5RXH | X-ray | 142 A | A | 397-857 | PDB |
| 5RXI | X-ray | 174 A | A | 397-857 | PDB |
| 5RXJ | X-ray | 152 A | A | 397-857 | PDB |
| 5RXK | X-ray | 146 A | A | 397-857 | PDB |
| 5RXL | X-ray | 149 A | A | 397-857 | PDB |
| 5RXM | X-ray | 146 A | A | 397-857 | PDB |
| 5RXO | X-ray | 171 A | A | 397-857 | PDB |
| 5RXP | X-ray | 153 A | A | 397-857 | PDB |
| 5RXQ | X-ray | 165 A | A | 397-857 | PDB |
| 5RXR | X-ray | 140 A | A | 397-857 | PDB |
| 5RXS | X-ray | 137 A | A | 397-857 | PDB |
| 5RXT | X-ray | 163 A | A | 397-857 | PDB |
| 5RXU | X-ray | 164 A | A | 397-857 | PDB |
| 5RXV | X-ray | 150 A | A | 397-857 | PDB |
| 5RXW | X-ray | 134 A | A | 397-857 | PDB |
| 5RXX | X-ray | 143 A | A | 397-857 | PDB |
| 5RXY | X-ray | 140 A | A | 397-857 | PDB |
| 5RXZ | X-ray | 156 A | A | 397-857 | PDB |
| 5RY0 | X-ray | 198 A | A | 397-857 | PDB |
| 5RY1 | X-ray | 152 A | A | 397-857 | PDB |
| 5RY2 | X-ray | 154 A | A | 397-857 | PDB |
| 5RY3 | X-ray | 150 A | A | 397-857 | PDB |
| 5RY4 | X-ray | 147 A | A | 397-857 | PDB |
| 5RY5 | X-ray | 154 A | A | 397-857 | PDB |
| 5RY6 | X-ray | 174 A | A | 397-857 | PDB |
| 5RY7 | X-ray | 160 A | A | 397-857 | PDB |
| 5RY8 | X-ray | 143 A | A | 397-857 | PDB |
| 5RY9 | X-ray | 152 A | A | 397-857 | PDB |
| 5RYA | X-ray | 132 A | A | 397-857 | PDB |
| 5RYB | X-ray | 155 A | A | 397-857 | PDB |
| 5RYC | X-ray | 156 A | A | 397-857 | PDB |
| 5RYD | X-ray | 160 A | A | 397-857 | PDB |
| 5RYE | X-ray | 170 A | A | 397-857 | PDB |
| 5RYF | X-ray | 149 A | A | 397-857 | PDB |
| 5RYG | X-ray | 147 A | A | 397-857 | PDB |
| 5RYH | X-ray | 172 A | A | 397-857 | PDB |
| 5RYI | X-ray | 145 A | A | 397-857 | PDB |
| 5RYJ | X-ray | 142 A | A | 397-857 | PDB |
| 5RYK | X-ray | 155 A | A | 397-857 | PDB |
| 5RYL | X-ray | 155 A | A | 397-857 | PDB |
| 6IBD | X-ray | 148 A | A | 397-857 | PDB |
| 6XY7 | X-ray | 109 A | AAA | 397-857 | PDB |
| 8PDG | X-ray | 140 A | AAA | 397-857 | PDB |
| 8PDH | X-ray | 145 A | AAA | 397-857 | PDB |
| 8PDI | X-ray | 130 A | A | 397-857 | PDB |
| 8PDJ | X-ray | 140 A | AAA | 397-857 | PDB |
| AF-Q92835-F1 | Predicted | AlphaFoldDB |
756 variants for Q92835
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA351032471 rs1191747022 |
2 | V>F | No |
ClinGen TOPMed |
|
|
CA351032468 rs1191747022 |
2 | V>I | No |
ClinGen TOPMed |
|
|
rs762326413 CA2172352 |
3 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351032501 rs1376507621 |
5 | W>R | No |
ClinGen gnomAD |
|
|
rs1296675762 CA351032535 |
8 | G>D | No |
ClinGen gnomAD |
|
|
rs1375731175 CA351032567 |
11 | T>I | No |
gnomAD ClinGen |
|
|
CA67021468 rs968053831 |
12 | R>H | No |
TOPMed gnomAD ClinGen |
|
|
COSM1017948 rs985114923 CA67021472 |
15 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs758264338 CA67021495 |
17 | E>K | No |
ClinGen Ensembl |
|
|
CA351032747 rs1202108044 |
30 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1252723766 CA351032759 |
31 | R>H | No |
TOPMed gnomAD ClinGen |
|
|
rs62194575 CA67021520 |
33 | S>N | No |
ClinGen Ensembl |
|
|
CA351032786 rs1208839778 |
34 | E>K | No |
ClinGen gnomAD |
|
|
rs528814058 CA2172360 |
36 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1333627361 CA351032811 |
36 | I>M | No |
ClinGen TOPMed |
|
|
CA2172359 rs528814058 |
36 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1455184422 COSM3962542 CA351032824 |
38 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA2172361 rs758308733 |
40 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351032879 rs1462728006 |
44 | V>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1462728006 CA351032876 |
44 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs749540582 CA2172366 |
45 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1276858904 CA351032981 |
47 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA67034010 rs1009089546 |
47 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
|
COSM1210720 rs748315737 CA2172388 |
50 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1187653614 CA351033059 |
59 | E>Q | No |
gnomAD ClinGen |
|
| TCGA novel | 60 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559278220 CA351033078 |
61 | D>G | No |
ClinGen Ensembl |
|
|
CA67034022 rs893930697 |
65 | V>I | No |
TOPMed ClinGen |
|
|
rs1177545776 CA351033594 |
68 | S>A | No |
TOPMed ClinGen |
|
|
CA2172420 rs369614981 COSM120093 |
69 | E>K | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs369614981 CA351033598 |
69 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202026792 CA2172422 |
71 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1212024419 CA351033669 |
79 | L>M | No |
ClinGen gnomAD |
|
|
CA351033681 rs1436258261 |
80 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 81 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2172425 rs572084540 |
83 | I>M | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA351033698 rs1443581641 |
83 | I>V | No |
gnomAD ClinGen |
|
|
rs1435956129 CA351033759 |
91 | M>L | No |
TOPMed ClinGen |
|
|
CA351033796 rs1191748379 |
96 | H>Q | No |
ClinGen gnomAD |
|
|
CA351033794 rs1461090181 |
96 | H>R | No |
TOPMed ClinGen |
|
|
CA2172428 rs757426722 |
102 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs777600232 CA67026768 |
102 | P>S | No |
ClinGen Ensembl |
|
|
CA351033889 rs780515179 CA351033890 |
110 | D>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2172431 rs370226119 |
110 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373149593 CA351033891 |
111 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2172433 rs373149593 |
111 | D>N | Variant assessed as Somatic; 4.654e-05 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs773858463 CA2172435 |
113 | E>* | No |
ExAC gnomAD ClinGen |
|
|
rs564205618 CA67026852 |
113 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs564205618 CA2172436 |
113 | E>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA2172438 rs772662401 |
115 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2172439 rs760657897 |
116 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1295280588 CA351033968 |
118 | E>K | No |
ClinGen gnomAD |
|
|
CA2172472 rs367778042 |
119 | S>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1227288206 CA351033978 |
119 | S>T | No |
ClinGen TOPMed |
|
|
CA351033988 rs1291148249 |
120 | V>A | No |
gnomAD ClinGen |
|
|
CA2172474 rs755468463 |
121 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777393014 CA2172478 |
125 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA2172480 rs770352133 |
131 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs146631523 CA2172481 |
132 | P>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs769747258 CA2172483 |
133 | L>P | No |
ExAC gnomAD ClinGen |
|
|
rs769747258 CA67030341 |
133 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1298686610 CA351034107 |
134 | T>I | No |
ClinGen TOPMed |
|
|
CA2172484 rs775464802 |
134 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1375227828 CA351034126 |
135 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 136 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351034128 rs1433243842 |
136 | S>R | No |
gnomAD ClinGen |
|
|
rs1234111073 CA351034143 |
136 | S>R | No |
ClinGen gnomAD |
|
|
CA67030361 rs968593154 |
138 | C>R | No |
TOPMed ClinGen |
|
|
CA351034224 rs1326849007 |
141 | K>R | No |
gnomAD ClinGen |
|
|
CA351034259 rs1390931252 |
143 | V>L | No |
ClinGen gnomAD |
|
|
CA351034288 rs1371186618 |
145 | F>L | No |
TOPMed ClinGen |
|
|
rs760881867 CA2172488 |
145 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2172490 rs766394970 |
147 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552232273 CA2172491 |
148 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA67030407 rs909335175 |
149 | N>K | No |
Ensembl ClinGen |
|
| TCGA novel | 150 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2172492 rs765772956 |
150 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2172493 rs368153152 |
151 | R>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA351034380 rs758777451 |
151 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA2172494 rs758777451 |
151 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
rs370172183 CA2172495 |
152 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2172498 rs548356548 |
154 | E>K | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA351034399 rs1179890203 |
155 | T>P | No |
ClinGen gnomAD |
|
|
rs1258204818 CA351034406 |
156 | S>G | No |
ClinGen TOPMed |
|
|
rs1453017014 CA351034412 |
156 | S>R | No |
ClinGen gnomAD |
|
|
rs200834931 CA2172501 |
157 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2172500 rs769686085 |
157 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351034420 rs749177559 |
158 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs749177559 CA351034419 |
158 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs749177559 CA2172502 |
158 | P>R | No |
ExAC gnomAD ClinGen |
|
|
CA351034426 rs1231546361 |
159 | S>N | No |
ClinGen TOPMed |
|
|
CA2172506 rs771155830 |
162 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs181242219 CA2172507 |
163 | T>P | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA2172509 rs765244250 |
164 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 165 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753207715 CA351034476 |
167 | R>* | Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763411419 CA2172511 |
167 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA67030581 rs752579631 |
168 | L>P | No |
ClinGen Ensembl |
|
|
CA2172512 rs764464155 |
169 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
CA351034503 rs1252697171 CA351034504 |
171 | M>I | No |
gnomAD ClinGen |
|
|
rs993668313 CA67030625 |
171 | M>L | No |
ClinGen TOPMed |
|
|
rs1457869767 CA351034517 |
173 | T>N | No |
ClinGen gnomAD |
|
| rs542437164 | 175 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2172539 rs778985157 |
177 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs758217442 CA2172541 |
178 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559309132 CA351034711 |
181 | L>P | No |
Ensembl ClinGen |
|
|
rs1245114841 CA351034719 |
182 | K>E | No |
ClinGen TOPMed |
|
|
rs186014148 CA2172542 |
183 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2172543 rs186014148 |
183 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351034751 rs1179364313 |
184 | I>M | No |
gnomAD ClinGen |
|
|
CA2172544 rs769980842 |
186 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA351034817 rs1344832047 |
188 | L>* | No |
TOPMed ClinGen |
|
|
rs866081540 CA67034009 |
192 | L>F | No |
ClinGen TOPMed |
|
|
rs1316878579 CA351034876 |
193 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 193 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1045791912 CA67034012 |
201 | T>A | No |
ClinGen gnomAD |
|
|
CA2172546 rs749366486 |
202 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404076867 CA351034939 |
202 | G>R | No |
ClinGen TOPMed |
|
|
CA351034942 rs749366486 |
202 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 204 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 206 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2172548 rs774932127 |
207 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1174606978 CA351034981 |
208 | H>R | No |
ClinGen gnomAD |
|
|
rs1574752019 CA351034979 |
208 | H>Y | No |
ClinGen Ensembl |
|
|
rs767953845 CA2172550 |
211 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA2172551 rs773396689 |
213 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA67034037 rs896624712 |
215 | L>M | No |
TOPMed ClinGen |
|
|
CA2172553 rs766128298 |
217 | C>S | No |
ExAC gnomAD ClinGen |
|
|
rs753461176 CA2172554 |
218 | K>N | No |
ExAC gnomAD ClinGen |
|
|
rs1360933693 CA351035053 |
220 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1435430705 CA351035063 |
221 | Y>C | No |
gnomAD ClinGen |
|
| TCGA novel | 222 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310752261 CA351035072 |
222 | G>V | No |
ClinGen gnomAD |
|
|
CA766224591 rs1257940220 |
223 | E>K | No |
ClinGen TOPMed |
|
|
rs925865600 CA67042587 |
226 | R>Q | No |
ClinGen Ensembl |
|
|
CA67042583 rs1043037043 |
226 | R>W | No |
ClinGen TOPMed |
|
|
CA1335601698 rs1574759418 |
227 | T>P | No |
ClinGen Ensembl |
|
|
CA67042591 rs934533859 |
232 | E>A | No |
ClinGen Ensembl |
|
|
CA766224596 rs1484812536 |
236 | R>S | No |
ClinGen TOPMed |
|
|
CA766224597 rs1265508263 |
239 | D>G | No |
ClinGen TOPMed |
|
|
CA766224598 rs1216609724 |
240 | Q>H | No |
TOPMed ClinGen |
|
|
rs1316349872 CA766224605 |
244 | P>L | No |
TOPMed ClinGen |
|
|
CA67042613 rs1014032498 |
247 | R>C | No |
ClinGen Ensembl |
|
|
rs1044529540 CA67042616 |
247 | R>H | No |
TOPMed ClinGen |
|
|
rs1335962867 CA766224614 |
249 | R>C | No |
ClinGen TOPMed |
|
|
CA766224615 rs1293054326 |
249 | R>H | No |
ClinGen TOPMed |
|
|
CA351035785 rs1164190557 |
252 | V>I | No |
gnomAD ClinGen |
|
|
rs1348021326 CA351035789 |
253 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA351035799 rs1459347498 |
254 | G>V | No |
ClinGen gnomAD |
|
|
CA351035815 rs1293919467 |
257 | N>H | No |
ClinGen gnomAD |
|
|
CA351035828 rs1342348960 |
258 | P>L | No |
ClinGen TOPMed |
|
|
rs367582064 CA67044735 |
260 | N>S | No |
ESP TOPMed ClinGen |
|
|
rs764264748 CA67044739 |
261 | M>V | No |
ClinGen gnomAD |
|
|
CA67044753 rs375715983 |
262 | V>M | No |
gnomAD ClinGen |
|
|
CA67044759 rs927563997 |
264 | K>N | No |
TOPMed ClinGen |
|
|
CA351035866 rs1340656573 |
264 | K>R | No |
gnomAD ClinGen |
|
|
CA2172609 rs758415674 |
265 | L>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA67044766 rs1049230309 |
266 | S>G | No |
TOPMed gnomAD ClinGen |
|
|
rs777960388 CA2172610 |
266 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1224361143 CA351035888 |
268 | L>M | No |
gnomAD ClinGen |
|
|
rs1266417596 CA351035906 |
270 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1214805729 CA351035927 |
272 | L>F | No |
gnomAD ClinGen |
|
|
CA351035938 rs1490933396 |
273 | S>L | No |
ClinGen Ensembl |
|
|
rs1478213206 CA351035949 |
274 | S>C | No |
ClinGen gnomAD |
|
|
rs1478213206 CA351035947 |
274 | S>Y | No |
gnomAD ClinGen |
|
|
rs1411658302 CA351035957 |
275 | I>T | No |
ClinGen gnomAD |
|
|
CA67044800 rs531163922 |
275 | I>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA351035978 rs1425504364 |
277 | D>H | No |
gnomAD ClinGen |
|
|
CA351036069 rs1445149811 |
279 | V>A | No |
gnomAD ClinGen |
|
|
CA351036059 rs1376853494 |
279 | V>I | No |
gnomAD ClinGen |
|
|
CA351036089 rs1311934579 |
281 | A>S | No |
TOPMed gnomAD ClinGen |
|
|
CA351036092 rs1354787935 |
281 | A>V | No |
ClinGen gnomAD |
|
|
rs1218933007 CA351036121 |
284 | H>Y | No |
ClinGen gnomAD |
|
|
CA67044922 rs780143535 |
285 | E>K | No |
ClinGen gnomAD |
|
|
CA67044925 rs930906898 |
286 | G>D | No |
ClinGen TOPMed |
|
|
CA351036151 rs1210865107 |
286 | G>R | No |
ClinGen gnomAD |
|
|
rs1237597314 CA351036178 |
288 | E>G | No |
gnomAD ClinGen |
|
|
CA351036187 rs1180364686 |
289 | S>P | No |
ClinGen gnomAD |
|
|
rs757810007 CA2172631 |
290 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1170504464 CA351036210 |
291 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA351036229 rs573550640 |
292 | R>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA67044927 rs573550640 |
292 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA351036224 rs1426795737 |
292 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA351036231 rs1165994571 |
293 | P>S | No |
ClinGen TOPMed |
|
|
rs1246999313 CA351036258 |
295 | L>V | No |
ClinGen TOPMed |
|
|
CA2172634 rs748910944 |
298 | P>A | No |
ExAC gnomAD ClinGen |
|
|
rs1259297927 CA351036301 |
299 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1467269937 CA351036319 |
300 | T>S | No |
TOPMed ClinGen |
|
| TCGA novel | 306 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 309 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397801798 CA351036452 |
310 | I>S | No |
ClinGen gnomAD |
|
|
CA351036456 rs1179449113 |
311 | P>S | No |
gnomAD ClinGen |
|
|
rs1234560439 CA351036471 |
313 | K>T | No |
ClinGen TOPMed |
|
|
CA351036482 rs1437457033 |
314 | M>I | No |
gnomAD ClinGen |
|
|
rs1351918777 CA351036476 |
314 | M>L | No |
gnomAD ClinGen |
|
|
CA67045707 rs867343251 |
315 | Q>* | No |
Ensembl ClinGen |
|
|
CA351036495 rs1277801142 |
316 | L>H | No |
ClinGen gnomAD |
|
|
rs752600484 CA2172647 |
319 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA67045719 rs997884700 |
320 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
| TCGA novel | 322 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs909022175 CA67045722 |
326 | I>T | No |
Ensembl ClinGen |
|
|
CA351036598 rs1387059367 |
331 | K>R | No |
ClinGen TOPMed |
|
|
CA67045729 rs1029724408 |
333 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs953715947 CA67045736 |
338 | F>I | No |
ClinGen TOPMed |
|
|
CA351036687 TCGA novel rs1451966430 |
338 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD NCI-TCGA ClinGen |
|
CA2172649 rs767637918 |
339 | Y>S | No |
ExAC gnomAD ClinGen |
|
|
rs756590479 CA2172651 |
343 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs750924420 CA2172650 |
343 | K>R | No |
ExAC gnomAD ClinGen |
|
|
rs1239700305 CA351038440 |
346 | Q>* | No |
ClinGen gnomAD |
|
|
rs1378795190 CA351038531 |
350 | S>A | No |
ClinGen gnomAD |
|
|
rs1559324813 CA351038596 |
355 | N>S | No |
ClinGen Ensembl |
|
|
CA67049597 rs753229959 |
356 | K>T | No |
Ensembl ClinGen |
|
|
CA351038632 rs1159363469 |
360 | L>F | No |
TOPMed gnomAD ClinGen |
|
|
rs1401665282 CA351038637 |
361 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA351038651 rs1394347518 |
363 | T>R | No |
gnomAD ClinGen |
|
| TCGA novel | 365 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281095265 CA351038699 |
370 | R>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA351038698 rs1445889093 |
370 | R>W | No |
gnomAD ClinGen |
|
|
CA351038762 rs1355499092 |
377 | D>H | No |
gnomAD ClinGen |
|
| TCGA novel | 377 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2172662 rs567316178 |
378 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 379 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 382 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 386 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431669898 CA351039279 |
387 | L>P | No |
ClinGen gnomAD |
|
|
rs867948305 CA67050313 |
398 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2172675 rs777189163 |
399 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770834125 CA2172677 |
401 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA351039388 rs1389033759 |
402 | D>N | No |
ClinGen gnomAD |
|
|
CA67050318 rs976870344 |
408 | I>L | No |
gnomAD ClinGen |
|
|
CA67050320 rs976870344 |
408 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 409 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216224018 CA351039491 |
409 | G>S | No |
gnomAD ClinGen |
|
|
rs1279499269 CA351039517 |
411 | W>R | No |
ClinGen gnomAD |
|
|
CA351040402 rs1432282235 |
415 | N>I | No |
ClinGen TOPMed |
|
|
rs569340799 CA2172705 |
415 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373650820 CA2172707 |
416 | A>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs373650820 CA2172708 |
416 | A>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA2172710 rs775892531 |
418 | P>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs775892531 CA2172709 |
418 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351040471 rs775892531 |
418 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2172712 rs751255234 |
419 | P>A | No |
ExAC gnomAD ClinGen |
|
| rs759837481 | 419 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553587231 CA351040665 |
423 | T>A | No |
ClinGen Ensembl |
|
|
CA2172713 rs756810751 |
423 | T>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2172718 rs749177675 |
431 | Q>R | No |
ExAC gnomAD ClinGen |
|
|
rs1166727745 CA351040990 |
434 | T>A | No |
ClinGen TOPMed |
|
|
CA351041008 rs1455642398 |
434 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2172721 rs747305850 |
435 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776762956 CA2172723 |
437 | D>N | No |
ExAC gnomAD ClinGen |
|
|
CA351041129 rs1237408660 |
439 | A>S | No |
ClinGen gnomAD |
|
|
rs775982903 CA2172726 |
441 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs769084210 CA2172728 |
442 | I>L | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 446 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2172732 rs750010950 |
450 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs375850143 CA2172734 |
453 | E>G | No |
ESP ExAC ClinGen |
|
|
CA2172736 rs753837991 |
455 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA2172735 rs753837991 |
455 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 456 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2172737 rs778809116 |
457 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs752430259 CA2172739 |
461 | W>* | No |
ExAC gnomAD ClinGen |
|
|
CA2172740 rs775901777 |
462 | L>G | No |
ExAC ClinGen |
|
|
CA351041756 rs1299294584 |
462 | L>V | No |
gnomAD ClinGen |
|
|
CA351041782 rs1325760592 |
463 | E>G | No |
ClinGen gnomAD |
|
|
CA2172741 rs567362809 |
464 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1329061257 CA351041811 |
465 | L>F | No |
ClinGen TOPMed |
|
|
CA351041832 rs1257316943 |
466 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA351041913 rs1306749054 |
470 | Q>K | No |
TOPMed ClinGen |
|
|
rs746025849 CA2172743 |
471 | E>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351041998 rs1477498637 |
474 | S>R | No |
gnomAD ClinGen |
|
|
CA2172746 rs780057271 |
477 | F>L | No |
ExAC gnomAD ClinGen |
|
|
CA351042080 rs1430876958 |
477 | F>S | No |
ClinGen gnomAD |
|
|
rs1355431987 CA351042854 |
480 | V>F | No |
gnomAD ClinGen |
|
|
CA351042849 rs1355431987 |
480 | V>I | No |
ClinGen gnomAD |
|
|
rs992734549 CA67050950 |
481 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA351042891 rs1361801669 |
482 | I>F | No |
gnomAD ClinGen |
|
|
rs376107758 CA2172760 |
484 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1260502006 CA351042964 |
485 | L>R | No |
gnomAD ClinGen |
|
|
rs948616312 CA67050954 |
489 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
CA351043055 rs1243164570 |
489 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA351043042 rs948616312 |
489 | R>S | No |
TOPMed gnomAD ClinGen |
|
|
CA2172761 rs756303125 |
490 | I>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1308351541 CA351043082 |
491 | V>M | No |
gnomAD ClinGen |
|
|
rs1189771200 CA351043145 |
494 | A>V | No |
TOPMed ClinGen |
|
|
CA351043292 rs1425537981 |
501 | R>Q | No |
gnomAD ClinGen |
|
|
rs1402492402 CA351043366 |
506 | C>G | No |
gnomAD ClinGen |
|
|
rs1205046029 CA351043403 |
508 | D>N | No |
ClinGen TOPMed |
|
|
rs1482381669 CA351043424 |
509 | N>H | No |
ClinGen TOPMed |
|
| TCGA novel | 519 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198438745 CA351044971 |
519 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA351045056 rs1484852791 |
523 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs922926356 CA67052102 |
524 | V>M | No |
TOPMed ClinGen |
|
|
rs1421115049 CA351045085 |
525 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 526 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2172777 rs758986671 |
526 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1477017586 CA351045120 |
527 | S>L | No |
TOPMed ClinGen |
|
|
CA67052106 rs1045724606 |
528 | F>L | No |
ClinGen Ensembl |
|
|
rs1429939594 CA351045147 |
529 | M>L | No |
gnomAD ClinGen |
|
|
CA2172779 rs775323433 |
531 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867627904 CA67052108 |
532 | G>R | No |
ClinGen Ensembl |
|
|
CA351045227 rs762825882 |
533 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA351045222 rs1574782362 |
533 | T>P | No |
Ensembl ClinGen |
|
|
CA2172780 rs762825882 |
533 | T>S | No |
ExAC gnomAD ClinGen |
|
|
rs1398276891 CA351045259 |
534 | S>F | No |
gnomAD ClinGen |
|
|
rs1391681152 CA351045280 |
536 | G>E | No |
gnomAD ClinGen |
|
|
rs369737391 CA2172782 |
538 | V>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1283314599 CA351045319 |
539 | N>T | No |
gnomAD ClinGen |
|
|
CA351045342 rs766497313 |
540 | S>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2172786 rs755015921 |
543 | T>I | No |
ExAC gnomAD ClinGen |
|
|
rs1376134560 CA351045434 |
547 | E>A | No |
TOPMed ClinGen |
|
|
rs1574782440 CA351045471 |
550 | L>V | No |
ClinGen Ensembl |
|
|
CA2172812 rs757597472 |
556 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA2172814 rs745553219 |
557 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs890219321 CA67052273 |
558 | N>S | No |
TOPMed ClinGen |
|
|
CA351045617 rs1357588185 |
560 | L>F | No |
ClinGen gnomAD |
|
|
rs769454012 CA2172815 |
560 | L>R | No |
ExAC gnomAD ClinGen |
|
|
CA2172817 rs748779670 |
561 | R>W | No |
ExAC gnomAD ClinGen |
|
|
rs764697637 CA2172820 |
567 | D>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 568 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262510300 CA351045754 |
571 | S>N | No |
ClinGen gnomAD |
|
|
CA351045800 rs1486155748 |
575 | I>L | No |
gnomAD ClinGen |
|
| TCGA novel | 577 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs546876794 CA2172821 |
578 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs375591511 CA2172822 |
580 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765484253 CA2172824 |
583 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA351045990 rs1261201170 |
591 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
CA351046016 rs1336638244 |
593 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2172827 rs538582824 |
593 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 596 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752137322 CA2172828 |
596 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 604 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780356340 CA2172852 |
605 | K>N | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 606 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753509020 CA67012222 |
611 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173656770 CA351033228 |
611 | Y>H | No |
ClinGen gnomAD |
|
|
rs1039861093 CA67012211 |
611 | Y>S | No |
ClinGen TOPMed |
|
|
CA2172856 rs754601445 |
612 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754601445 CA2172855 |
612 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs947043094 CA67012235 |
613 | D>V | No |
ClinGen TOPMed |
|
|
rs1472002831 CA351033251 |
615 | L>V | No |
ClinGen TOPMed |
|
|
rs373488970 CA351033267 |
617 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351033308 rs770876246 |
623 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs776547883 CA2172862 |
624 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2172865 rs774349245 |
626 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2172866 rs371795790 |
629 | V>I | No |
ESP ExAC gnomAD ClinGen |
|
|
CA2172868 rs773799648 |
632 | H>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs375044485 | 633 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763745554 CA351033379 |
634 | E>* | No |
ClinGen Ensembl |
|
|
CA67012298 rs763745554 |
634 | E>K | No |
Ensembl ClinGen |
|
|
CA67012677 rs868529725 |
635 | E>K | No |
ClinGen Ensembl |
|
|
CA2172893 rs763702774 |
639 | T>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2172895 rs757318469 |
643 | T>A | No |
ExAC gnomAD ClinGen |
|
|
CA351033467 rs1231529587 |
645 | R>C | No |
ClinGen gnomAD |
|
|
rs781285468 CA2172896 |
645 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 646 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351033482 rs1187972744 |
647 | E>G | No |
ClinGen TOPMed |
|
|
CA351033503 rs1423086498 |
650 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 650 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351033505 rs1383084629 |
651 | R>W | No |
ClinGen gnomAD |
|
|
rs1237792422 CA351033516 |
652 | D>E | No |
ClinGen gnomAD |
|
|
rs1574784009 CA351033536 |
655 | A>G | No |
ClinGen Ensembl |
|
|
rs756001826 CA2172898 |
655 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA67012734 rs992535297 |
657 | T>I | No |
ClinGen gnomAD |
|
|
rs916126154 CA67012747 |
661 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA351034127 rs1559336613 |
669 | P>L | No |
ClinGen Ensembl |
|
|
CA2172920 rs777863091 |
673 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA351034181 rs1257599036 |
674 | R>L | No |
ClinGen TOPMed |
|
|
rs868473975 CA67018215 |
676 | L>F | No |
ClinGen Ensembl |
|
|
CA67018220 rs992961848 |
677 | W>R | No |
ClinGen TOPMed |
|
|
CA2172922 rs771022107 |
683 | V>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2172921 rs747194817 |
683 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1403701825 CA351034300 |
685 | V>A | No |
ClinGen gnomAD |
|
| VAR_034979 | 685 | V>E | one patient with acute myeloid leukemya; somatic mutation [UniProt] | No | UniProt |
|
CA2172924 rs746416740 |
685 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1328880123 CA351034303 |
686 | V>L | No |
TOPMed ClinGen |
|
|
rs770202559 CA2172925 |
688 | Q>L | No |
ExAC TOPMed ClinGen |
|
|
CA2172949 rs772915023 |
692 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA351034564 rs1325880365 |
694 | S>G | No |
TOPMed ClinGen |
|
|
CA67022513 rs771204168 |
695 | D>N | No |
ClinGen gnomAD |
|
|
CA2172951 rs374965360 |
696 | I>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA67022517 rs77002990 |
697 | M>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA2172952 rs77002990 |
697 | M>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 698 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351034627 rs1239152317 |
702 | S>N | No |
gnomAD ClinGen |
|
|
rs76180226 CA67022571 |
705 | F>L | No |
ClinGen Ensembl |
|
|
CA67022561 rs77956970 |
705 | F>S | No |
ClinGen Ensembl |
|
|
CA351034720 rs1383027179 |
709 | E>A | No |
gnomAD ClinGen |
|
|
rs865775788 CA67022579 |
711 | G>E | No |
Ensembl ClinGen |
|
|
rs1446020839 CA351034748 |
712 | V>I | No |
gnomAD ClinGen |
|
|
CA67022585 rs1008325366 |
714 | S>F | No |
TOPMed ClinGen |
|
| TCGA novel | 714 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351034798 rs1164868125 |
716 | F>Y | No |
gnomAD ClinGen |
|
|
CA351034815 rs1223293626 |
718 | S>P | No |
Ensembl ClinGen |
|
|
CA351034857 rs757537275 |
721 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2172956 rs757537275 |
721 | G>S | No |
ExAC gnomAD ClinGen |
|
|
CA351035095 rs1479427758 |
723 | G>R | No |
ClinGen gnomAD |
|
|
rs1183737422 CA351035100 |
724 | T>A | No |
ClinGen gnomAD |
|
|
CA351035101 rs1183737422 |
724 | T>S | No |
gnomAD ClinGen |
|
|
rs760927030 CA2172977 |
725 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs578162299 CA2172976 |
725 | V>I | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA351035119 rs1199313953 |
727 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 729 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559340074 CA351035143 |
730 | Q>R | No |
Ensembl ClinGen |
|
| TCGA novel | 733 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351035176 rs1416490536 |
735 | R>G | No |
gnomAD ClinGen |
|
|
rs115685855 CA2172979 |
737 | Y>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 738 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA67024711 rs953953428 |
746 | T>I | No |
Ensembl ClinGen |
|
|
CA2172983 rs758855683 |
754 | S>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2173004 rs543473902 |
763 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351035416 rs1463796512 |
766 | G>E | No |
ClinGen gnomAD |
|
|
CA351035413 rs1241943013 |
766 | G>R | No |
gnomAD ClinGen |
|
| TCGA novel | 766 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs889199834 CA67025874 |
767 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA351035436 rs1190861454 |
769 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2173005 rs747076628 |
772 | S>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1454375485 CA351035470 |
773 | E>D | No |
ClinGen TOPMed |
|
|
rs769312390 CA2173006 |
774 | G>A | No |
ExAC gnomAD ClinGen |
|
|
rs1157289379 CA351035487 |
776 | L>P | No |
ClinGen TOPMed |
|
|
CA351035498 rs1471475172 |
778 | V>A | No |
ClinGen TOPMed |
|
|
rs749260871 CA351035495 |
778 | V>L | No |
ExAC gnomAD ClinGen |
|
|
CA2173008 rs749260871 |
778 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2173010 rs768632204 |
782 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1317530451 CA351035536 |
784 | L>V | No |
ClinGen gnomAD |
|
|
CA351035577 rs1225607773 |
788 | K>M | No |
ClinGen TOPMed |
|
|
rs1459728405 CA351035586 |
790 | I>L | No |
gnomAD ClinGen |
|
| TCGA novel | 801 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2173030 rs367577329 |
806 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs888342869 CA67523843 |
812 | D>N | No |
Ensembl ClinGen |
|
| TCGA novel | 813 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2173033 rs770129947 |
816 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA2173061 rs766689015 |
819 | C>S | No |
ExAC gnomAD ClinGen |
|
|
rs1416819121 CA351036663 |
819 | C>Y | No |
TOPMed ClinGen |
|
|
rs1356388060 CA351036679 |
820 | I>N | No |
TOPMed ClinGen |
|
|
CA2173062 rs753510963 |
822 | L>F | No |
ExAC gnomAD ClinGen |
|
|
CA2173064 rs368419027 |
823 | R>W | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1227994610 CA351036744 |
825 | E>D | No |
ClinGen gnomAD |
|
|
CA67524285 rs1038862530 |
825 | E>K | No |
ClinGen Ensembl |
|
|
rs752136060 CA2173065 |
826 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs757869721 CA2173066 |
826 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA351036759 rs1229245638 |
827 | T>A | No |
gnomAD ClinGen |
|
|
rs777860142 CA2173067 |
827 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs372568250 CA2173068 |
829 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs781117032 CA2173070 |
833 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351036822 rs1446186601 |
835 | T>M | No |
TOPMed gnomAD ClinGen |
|
|
rs768753369 CA2173072 |
837 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 838 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574801483 CA351036837 |
838 | T>P | No |
Ensembl ClinGen |
|
|
rs748187441 CA2173074 |
839 | H>Y | No |
ExAC ClinGen |
|
|
CA2173077 rs773738735 |
841 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1025838071 CA67524286 |
850 | E>K | No |
TOPMed ClinGen |
|
|
CA2173081 rs759293173 |
855 | T>A | No |
ExAC gnomAD ClinGen |
|
|
CA351036968 rs1440986418 |
857 | Q>R | No |
TOPMed ClinGen |
|
|
CA2173083 rs556107769 |
860 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA351037011 rs1257157856 |
863 | K>R | No |
gnomAD ClinGen |
|
|
CA351037022 rs1474328896 |
865 | Y>H | No |
ClinGen gnomAD |
|
|
rs755894738 CA2173109 |
869 | K>R | No |
ExAC gnomAD ClinGen |
|
|
rs766150038 CA2173110 |
870 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762536201 CA351037296 |
872 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA351037300 rs1298834008 |
872 | R>H | No |
ClinGen gnomAD |
|
|
rs762536201 CA2173112 |
872 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313655565 CA351037326 CA351037325 |
874 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 875 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574802658 CA351037340 |
876 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 878 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2173115 rs757259108 |
880 | T>P | No |
ClinGen ExAC |
|
|
rs781578655 CA2173116 |
883 | S>T | No |
ExAC ClinGen |
|
|
CA2173117 rs746334449 |
884 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2173118 rs770102359 |
884 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs201252871 CA351037392 |
885 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs201252871 CA2173120 |
885 | T>N | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA2173119 rs775889095 |
885 | T>P | No |
ExAC gnomAD ClinGen |
|
|
rs201252871 CA351037393 |
885 | T>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA351037394 rs1254624316 |
886 | S>R | No |
ClinGen gnomAD |
|
|
CA351037400 rs1238706458 |
886 | S>R | No |
ClinGen gnomAD |
|
|
CA67524464 rs954462979 |
888 | D>E | No |
ClinGen gnomAD |
|
|
rs546256970 CA2173122 |
888 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351037417 rs1313486596 |
889 | P>A | No |
TOPMed ClinGen |
|
|
CA2173124 rs376428985 |
890 | M>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs773046707 CA2173125 |
890 | M>T | No |
ExAC gnomAD ClinGen |
|
|
CA2173123 rs376428985 |
890 | M>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 892 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2173126 rs760639975 |
892 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA67524466 rs978894694 |
892 | Q>R | No |
Ensembl ClinGen |
|
|
CA67524467 rs945520835 |
898 | R>K | No |
ClinGen TOPMed |
|
|
rs780714404 CA351037499 |
899 | A>D | No |
ExAC gnomAD ClinGen |
|
|
rs780714404 CA2173155 |
899 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 900 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2173157 rs201211611 |
901 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs201211611 CA2173158 |
901 | P>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs375779728 CA2173160 |
905 | S>F | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA351037541 rs1158241194 |
906 | S>N | No |
ClinGen gnomAD |
|
|
CA2173161 rs777232196 |
907 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA67525048 rs947539984 |
908 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs368498176 CA2173162 |
911 | I>S | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1264129369 CA351037584 |
912 | N>K | No |
ClinGen TOPMed |
|
|
CA351037590 rs1488506591 |
913 | P>R | No |
TOPMed ClinGen |
|
|
rs529167177 CA2173164 |
914 | N>D | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA2173165 rs759445514 |
914 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 916 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214448535 CA351037607 |
916 | M>V | No |
TOPMed ClinGen |
|
|
rs1267947140 CA351037625 |
918 | V>G | No |
gnomAD ClinGen |
|
|
CA351037621 rs1234424357 |
918 | V>M | No |
gnomAD ClinGen |
|
|
rs372813242 CA2173166 |
919 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2173167 rs775258412 |
922 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 922 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351037655 rs1442003323 |
923 | P>L | No |
gnomAD ClinGen |
|
|
CA67525061 rs902940256 |
924 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351037665 rs1338094188 |
925 | M>T | No |
gnomAD ClinGen |
|
|
CA2173168 rs774161204 |
925 | M>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs542944643 CA2173169 |
926 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 927 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1057220841 CA67525063 |
927 | L>V | No |
ClinGen TOPMed |
|
|
rs760843259 CA2173171 |
929 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2173172 rs766520865 |
934 | S>C | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 934 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754447242 CA2173173 |
935 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1162664504 CA351037780 |
936 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 937 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765764355 CA2173176 |
940 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2173177 rs753092943 |
941 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA2173178 rs559263077 |
944 | Y>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs746591123 CA2173180 |
945 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2173181 rs756807247 |
946 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs558522784 CA2173182 |
947 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351037937 rs558522784 |
947 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529175498 CA351037963 |
949 | K>N | No |
ClinGen gnomAD |
|
|
rs202145539 CA2173184 |
949 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1574804832 CA351037973 |
950 | D>A | No |
ClinGen Ensembl |
|
|
CA351037991 rs1268007989 |
951 | S>F | No |
ClinGen TOPMed |
|
|
rs375229594 CA2173185 |
952 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375229594 CA351038001 |
952 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351038006 rs1249543946 |
953 | L>V | No |
ClinGen gnomAD |
|
|
rs768299556 CA2173187 |
955 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2173188 rs773507578 |
956 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1376838960 CA351038043 |
956 | C>Y | No |
ClinGen gnomAD |
|
|
CA351038055 rs1476864837 |
957 | R>G | No |
ClinGen gnomAD |
|
|
rs550559185 CA67525107 |
958 | G>E | No |
ClinGen 1000Genomes |
|
|
CA2173190 rs369600390 |
958 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2173192 rs776846482 |
960 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs776846482 CA2173191 |
960 | S>G | No |
ExAC gnomAD ClinGen |
|
|
CA351038120 rs1305580607 |
961 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2173193 rs144936636 |
962 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758811180 CA2173195 |
964 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1559347618 CA351038159 |
965 | P>T | No |
Ensembl ClinGen |
|
|
CA351038177 rs1305939873 |
966 | G>D | No |
gnomAD ClinGen |
|
|
rs751261681 CA2173197 |
966 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2173198 rs756895496 |
968 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348813612 CA351038202 |
968 | P>S | No |
gnomAD ClinGen |
|
|
CA2173200 rs567073552 |
969 | P>S | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1421764229 CA351038227 |
970 | I>V | No |
TOPMed ClinGen |
|
|
rs1481310584 CA351038287 |
974 | K>R | No |
ClinGen TOPMed |
|
|
CA2173201 rs755558489 |
975 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs772125160 CA351038326 |
977 | P>S | No |
ClinGen TOPMed |
|
|
rs772125160 CA67525129 |
977 | P>T | No |
ClinGen TOPMed |
|
|
CA2173202 rs780076125 |
978 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs749134502 CA2173203 |
979 | T>R | No |
ExAC gnomAD ClinGen |
|
|
rs559202516 CA2173205 |
982 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2173204 rs373499353 |
982 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351038394 rs1168971461 |
983 | G>A | No |
gnomAD ClinGen |
|
|
rs1402943853 CA351038386 |
983 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA351038390 rs1402943853 |
983 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1390600527 CA351038411 |
984 | L>P | No |
gnomAD ClinGen |
|
|
CA351038434 rs1198738538 |
985 | P>H | No |
ClinGen TOPMed |
|
|
CA351038453 rs1385477640 |
987 | R>G | No |
gnomAD ClinGen |
|
|
rs954695732 CA67525140 |
990 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA351038513 rs1328261354 |
990 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1469739224 CA351040350 |
993 | P>T | No |
TOPMed gnomAD ClinGen |
|
|
rs1369037359 CA351040459 |
996 | L>M | No |
TOPMed ClinGen |
|
|
rs958947511 CA67530318 |
997 | G>E | No |
ClinGen Ensembl |
|
|
CA2173222 rs778827225 |
1000 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351040600 rs1338700569 |
1000 | A>V | No |
gnomAD ClinGen |
|
|
CA2173223 rs142742228 |
1003 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2173224 rs771951642 |
1004 | L>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2173227 rs769955915 |
1008 | D>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351040884 rs769955915 |
1008 | D>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1485959913 CA351040868 |
1008 | D>Y | No |
gnomAD ClinGen |
|
|
CA2173228 rs61752228 |
1010 | P>L | Variant assessed as Somatic; 9.634e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA67530362 rs866726780 |
1010 | P>S | No |
ClinGen Ensembl |
|
|
CA67530369 rs866726780 |
1010 | P>T | No |
Ensembl ClinGen |
|
|
rs557858996 CA2173230 |
1012 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs557858996 CA2173231 |
1012 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs557858996 CA351040972 |
1012 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2173233 rs767825366 |
1013 | K>M | No |
ExAC ClinGen |
|
|
rs972244017 CA67530405 |
1014 | P>R | No |
ClinGen Ensembl |
|
|
rs750127174 CA2173234 |
1014 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA2173236 rs765981948 |
1015 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1254330784 CA351041076 |
1016 | M>L | No |
TOPMed ClinGen |
|
|
CA351041125 rs1302394550 |
1017 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1400132486 CA351041158 |
1018 | E>D | No |
gnomAD ClinGen |
|
| TCGA novel | 1021 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351041303 rs1349747165 |
1024 | S>C | No |
ClinGen gnomAD |
|
|
CA351041358 rs1317200543 |
1026 | S>T | No |
ClinGen gnomAD |
|
|
CA351041509 rs1253777075 |
1031 | P>S | No |
gnomAD ClinGen |
|
|
CA351041528 rs1486382912 |
1032 | A>P | No |
ClinGen gnomAD |
|
|
rs1225102276 CA351041594 |
1035 | K>T | No |
TOPMed ClinGen |
|
| TCGA novel | 1036 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2173241 rs758316571 |
1037 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283342716 CA351041723 |
1040 | P>S | No |
TOPMed ClinGen |
|
|
CA351041744 rs1222429862 |
1041 | K>Q | No |
ClinGen TOPMed |
|
|
CA351041757 rs1343247494 |
1041 | K>R | No |
TOPMed ClinGen |
|
|
CA351041838 rs1410603910 |
1043 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs201032928 CA2173245 |
1044 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2173244 rs769891270 |
1044 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1574809818 CA351041890 |
1045 | K>R | No |
Ensembl ClinGen |
|
|
rs537009392 CA2173248 |
1048 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351041979 rs1369883554 |
1048 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
CA351041991 rs1369883554 |
1048 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2173250 rs772468634 |
1051 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193906621 CA351042150 |
1053 | P>H | No |
TOPMed ClinGen |
|
|
rs192196528 CA2173254 |
1054 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs192196528 CA2173253 |
1054 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs942602574 CA67530473 |
1055 | I>V | No |
TOPMed ClinGen |
|
|
rs1341354917 CA351042174 |
1056 | L>W | No |
ClinGen gnomAD |
|
|
rs758989076 CA2173255 |
1057 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs764781215 CA2173256 |
1058 | P>R | No |
ExAC gnomAD ClinGen |
|
|
rs752719921 CA2173257 |
1060 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1481183285 CA351042239 |
1061 | V>L | No |
gnomAD ClinGen |
|
|
CA351042235 rs1481183285 |
1061 | V>M | No |
gnomAD ClinGen |
|
|
rs202066432 CA2173259 |
1062 | L>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs775635451 CA2173260 |
1068 | A>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351042321 rs1426261787 |
1068 | A>S | No |
ClinGen Ensembl |
|
|
CA2173262 rs780168077 |
1070 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351042361 rs201835044 |
1071 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2173264 rs201835044 |
1071 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768899994 CA67530518 |
1072 | E>K | No |
ClinGen Ensembl |
|
|
rs1484616419 CA351042396 |
1073 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1484616419 CA351042394 |
1073 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1354985808 CA351042389 |
1073 | G>R | No |
gnomAD ClinGen |
|
|
CA2173270 rs747339223 |
1074 | P>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs747339223 CA351042411 |
1074 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA2173269 rs773653216 |
1074 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs759195359 CA2173273 |
1075 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2173272 rs199955154 |
1075 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351042436 rs1215775990 |
1076 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs894147596 CA67530579 |
1079 | P>L | No |
Ensembl ClinGen |
|
|
CA2173276 rs762492547 |
1080 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs764127502 CA2173277 |
1080 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2173280 rs767325812 |
1081 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1459946814 CA351042515 |
1082 | R>Q | No |
TOPMed ClinGen |
|
|
rs1474478891 CA351042513 |
1082 | R>W | No |
gnomAD ClinGen |
|
|
rs754050020 CA2173281 |
1084 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs963696326 CA67530598 |
1084 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1404690394 CA351042551 |
1085 | S>C | No |
gnomAD ClinGen |
|
|
CA351042545 rs1205269469 |
1085 | S>T | No |
TOPMed ClinGen |
|
|
rs1162597743 CA351042556 |
1086 | F>L | No |
ClinGen gnomAD |
|
|
CA2173282 rs755227267 |
1087 | T>M | No |
ExAC ClinGen |
|
|
CA351042586 rs1319511118 |
1088 | C>F | No |
gnomAD ClinGen |
|
|
CA2173285 rs748242034 |
1088 | C>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs748242034 CA2173284 |
1088 | C>S | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 1088 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362522283 CA351042596 |
1089 | S>T | No |
ClinGen gnomAD |
|
|
rs1270207920 CA351042615 |
1090 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2173288 rs747528067 |
1091 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA2173287 rs747528067 |
1091 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1092 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291861636 CA351042641 |
1093 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA2173289 rs201530779 |
1094 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA67530634 rs201530779 |
1094 | G>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA351042670 rs1214651628 |
1095 | R>K | No |
ClinGen gnomAD |
|
|
rs745563573 CA2173290 |
1096 | A>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351042687 rs1445427398 |
1097 | A>P | No |
gnomAD ClinGen |
|
|
CA351042686 rs1445427398 |
1097 | A>T | No |
gnomAD ClinGen |
|
|
rs1218118240 CA351042696 |
1097 | A>V | No |
gnomAD ClinGen |
|
|
CA2173291 rs530909273 |
1098 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs954901187 CA67530658 |
1099 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA351042734 rs1158075026 |
1100 | D>E | No |
ClinGen gnomAD |
|
|
CA351042728 rs1385586423 |
1100 | D>G | No |
TOPMed ClinGen |
|
|
rs762580325 CA2173293 |
1100 | D>H | No |
ExAC gnomAD ClinGen |
|
|
CA2173294 rs550948282 |
1102 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1318480157 CA351042769 |
1103 | Q>* | No |
gnomAD ClinGen |
|
|
rs774207841 CA2173295 |
1104 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA67530701 rs11548568 |
1106 | P>L | No |
ClinGen gnomAD |
|
|
CA67530726 rs767285687 |
1109 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767285687 CA2173297 |
1109 | P>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs767285687 CA351042843 |
1109 | P>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs183268527 CA2173299 |
1114 | A>S | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs183268527 CA67530751 |
1114 | A>T | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA2173301 rs752878693 |
1115 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752878693 CA351042969 |
1115 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA67530774 rs989537746 |
1117 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351042995 rs989537746 |
1117 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA351043151 rs1181272170 |
1125 | S>C | No |
ClinGen gnomAD |
|
|
rs534965684 CA67530792 |
1127 | S>* | No |
Ensembl ClinGen |
|
|
rs534965684 CA351043197 |
1127 | S>L | No |
Ensembl ClinGen |
|
|
rs866048333 CA67530803 |
1128 | E>G | No |
Ensembl ClinGen |
|
|
CA351043223 rs1432339394 |
1129 | I>V | No |
gnomAD ClinGen |
|
|
rs567192065 CA2173306 |
1130 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351043262 rs1227355817 |
1130 | N>S | No |
TOPMed ClinGen |
|
|
CA351043280 rs1324709039 |
1131 | Q>R | No |
TOPMed ClinGen |
|
|
CA351043325 rs1405741712 |
1133 | T>N | No |
ClinGen TOPMed |
|
|
rs920055663 CA67530821 |
1133 | T>P | No |
ClinGen Ensembl |
|
|
rs532718867 CA2173308 |
1134 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351043368 rs1403324654 |
1135 | P>S | No |
TOPMed ClinGen |
|
|
rs931384838 CA67530837 |
1136 | T>P | No |
ClinGen gnomAD |
|
|
rs779871937 CA2173309 |
1138 | T>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs768325159 CA2173311 |
1139 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439361779 CA351043445 |
1140 | R>W | No |
gnomAD ClinGen |
|
|
rs761717768 CA2173314 |
1141 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs761717768 CA351043471 |
1141 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs867986643 CA67530885 |
1145 | V>A | No |
Ensembl ClinGen |
|
|
CA2173316 rs772956535 |
1147 | S>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs760496313 CA2173317 |
1148 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs760496313 CA67530901 |
1148 | P>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs760496313 CA351043631 |
1148 | P>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs375825105 CA2173318 |
1149 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA67530909 rs865914169 |
1151 | L>M | No |
ClinGen Ensembl |
|
|
rs1574810366 CA351043705 |
1152 | H>P | No |
Ensembl ClinGen |
|
|
rs1167877304 CA351043693 |
1152 | H>Y | No |
ClinGen gnomAD |
|
|
CA2173319 rs752956265 |
1153 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763156019 CA2173320 |
1154 | Q>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs764138587 CA2173321 |
1156 | S>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA67530925 rs1016249693 |
1157 | K>N | No |
TOPMed ClinGen |
|
|
rs757213775 CA2173324 |
1158 | G>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1305786546 CA351043814 |
1158 | G>S | No |
gnomAD ClinGen |
|
|
CA2173326 rs750844484 |
1159 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2173327 rs750844484 |
1159 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs781736082 CA2173325 |
1159 | R>S | No |
ExAC gnomAD ClinGen |
|
|
CA351043859 rs1341302504 |
1160 | D>H | No |
ClinGen gnomAD |
|
|
CA351043884 rs1177962286 |
1161 | Y>N | No |
TOPMed ClinGen |
|
|
CA67530961 rs897814366 |
1162 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs897814366 CA351043901 |
1162 | R>G | No |
TOPMed gnomAD ClinGen |
|
|
CA351043939 rs1253196474 |
1163 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs749017768 CA2173331 |
1164 | N>S | No |
ExAC gnomAD ClinGen |
|
|
rs1463976913 CA351043971 |
1165 | T>I | No |
gnomAD ClinGen |
|
|
CA351043989 rs1484451736 |
1166 | E>D | No |
gnomAD ClinGen |
|
|
CA351043973 rs1168915803 |
1166 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
CA2173333 rs778375246 |
1168 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351044006 rs778375246 |
1168 | P>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2173334 rs778375246 |
1168 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351044019 rs9247 |
1169 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2173336 rs9247 VAR_059358 |
1169 | H>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
|
rs1381723847 CA351044031 |
1170 | H>D | No |
gnomAD ClinGen |
|
|
rs1328186454 CA351044038 |
1170 | H>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA2173337 rs746927831 |
1170 | H>R | No |
ExAC gnomAD ClinGen |
|
|
rs868383258 CA67531023 |
1171 | G>D | No |
ClinGen gnomAD |
|
|
rs1228034383 CA351044043 |
1171 | G>R | No |
ClinGen gnomAD |
|
|
rs1228034383 CA351044042 |
1171 | G>S | No |
ClinGen gnomAD |
|
|
rs1332455238 CA351044063 |
1172 | K>N | No |
TOPMed gnomAD ClinGen |
|
|
CA351044067 rs1434104382 |
1173 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs776395559 CA2173339 |
1174 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273440342 CA351044084 |
1174 | R>W | No |
gnomAD ClinGen |
|
|
rs567178967 CA67531048 |
1175 | P>L | No |
ClinGen 1000Genomes TOPMed |
|
|
CA351044091 rs1263206452 |
1175 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1176 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1417731574 CA351044117 |
1177 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
rs1297367786 CA351044133 |
1178 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1297367786 CA351044137 |
1178 | G>W | No |
TOPMed gnomAD ClinGen |
|
|
CA351044146 rs1474436295 |
1179 | P>A | No |
ClinGen gnomAD |
|
|
CA351044147 rs1474436295 |
1179 | P>S | No |
ClinGen gnomAD |
|
|
rs1026410134 CA67531063 |
1181 | G>A | No |
TOPMed gnomAD ClinGen |
|
|
CA351044187 rs1438160109 |
1182 | P>L | No |
ClinGen TOPMed |
|
|
CA2173343 rs761970630 |
1186 | T>N | No |
ExAC gnomAD ClinGen |
|
|
rs1387192178 CA351044289 |
1188 | M>I | No |
gnomAD ClinGen |
|
|
rs954860869 CA67531078 |
1189 | Q>K | No |
ClinGen gnomAD |
|
|
CA2173365 rs776484281 |
1190 | Q>R | No |
ExAC gnomAD ClinGen |
No associated diseases with Q92835
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.36 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity | Catalysis of the reaction: 1D-myo-inositol 1,3,4,5-tetrakisphosphate + H2O = 1D-myo-inositol 1,3,4-trisphosphate + phosphate. |
| inositol-1,4,5-trisphosphate 5-phosphatase activity | Catalysis of the reaction: 1D-myo-inositol 1,4,5-trisphosphate + H2O = 1D-myo-inositol 1,4-bisphosphate + phosphate. |
| inositol-polyphosphate 5-phosphatase activity | Catalysis of the reactions: D-myo-inositol 1,4,5-trisphosphate + H2O = myo-inositol 1,4-bisphosphate + phosphate, and 1D-myo-inositol 1,3,4,5-tetrakisphosphate + H2O = 1D-myo-inositol 1,3,4-trisphosphate + phosphate. |
| phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity | Catalysis of the reaction: phosphatidylinositol-3,4,5-trisphosphate + H2O = phosphatidylinositol-4,5-bisphosphate + phosphate. |
| phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity | Catalysis of the reaction: phosphatidylinositol-3,4,5-trisphosphate + H2O = phosphatidylinositol-3,4-bisphosphate + phosphate. |
| phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate. |
| 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. |
22 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| determination of adult lifespan | The pathways that regulate the duration of the adult phase of the life-cycle of an animal. |
| immunoglobulin mediated immune response | An immune response mediated by immunoglobulins, whether cell-bound or in solution. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| negative regulation of B cell proliferation | Any process that stops, prevents or reduces the rate or extent of B cell proliferation. |
| negative regulation of bone resorption | Any process that stops, prevents, or reduces the frequency, rate or extent of bone resorption. |
| negative regulation of immune response | Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. |
| negative regulation of interleukin-6 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-6 production. |
| negative regulation of monocyte differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of monocyte differentiation. |
| negative regulation of neutrophil differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of neutrophil differentiation. |
| negative regulation of osteoclast differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation. |
| negative regulation of signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction. |
| phosphate-containing compound metabolic process | The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. |
| phosphatidylinositol biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. |
| phosphatidylinositol dephosphorylation | The process of removing one or more phosphate groups from a phosphatidylinositol. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of B cell differentiation | Any process that activates or increases the frequency, rate or extent of B cell differentiation. |
| positive regulation of erythrocyte differentiation | Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation. |
| regulation of immune response | Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. |
| regulation of signal transduction | Any process that modulates the frequency, rate or extent of signal transduction. |
| 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. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32019 | INPP5B | Type II inositol 1,4,5-trisphosphate 5-phosphatase | Homo sapiens (Human) | PR |
| Q9NRR6 | INPP5E | Phosphatidylinositol polyphosphate 5-phosphatase type IV | Homo sapiens (Human) | PR |
| Q6NVF0 | Ocrl | Inositol polyphosphate 5-phosphatase OCRL | Mus musculus (Mouse) | PR |
| Q8K337 | Inpp5b | Type II inositol 1,4,5-trisphosphate 5-phosphatase | Mus musculus (Mouse) | PR |
| Q9ES52 | Inpp5d | Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 | Mus musculus (Mouse) | PR |
| P97573 | Inpp5d | Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVPCWNHGNI | TRSKAEELLS | RTGKDGSFLV | RASESISRAY | ALCVLYRNCV | YTYRILPNED |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DKFTVQASEG | VSMRFFTKLD | QLIEFYKKEN | MGLVTHLQYP | VPLEEEDTGD | DPEEDTVESV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VSPPELPPRN | IPLTASSCEA | KEVPFSNENP | RATETSRPSL | SETLFQRLQS | MDTSGLPEEH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LKAIQDYLST | QLAQDSEFVK | TGSSSLPHLK | KLTTLLCKEL | YGEVIRTLPS | LESLQRLFDQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QLSPGLRPRP | QVPGEANPIN | MVSKLSQLTS | LLSSIEDKVK | ALLHEGPESP | HRPSLIPPVT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FEVKAESLGI | PQKMQLKVDV | ESGKLIIKKS | KDGSEDKFYS | HKKILQLIKS | QKFLNKLVIL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VETEKEKILR | KEYVFADSKK | REGFCQLLQQ | MKNKHSEQPE | PDMITIFIGT | WNMGNAPPPK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KITSWFLSKG | QGKTRDDSAD | YIPHDIYVIG | TQEDPLSEKE | WLEILKHSLQ | EITSVTFKTV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AIHTLWNIRI | VVLAKPEHEN | RISHICTDNV | KTGIANTLGN | KGAVGVSFMF | NGTSLGFVNS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| HLTSGSEKKL | RRNQNYMNIL | RFLALGDKKL | SPFNITHRFT | HLFWFGDLNY | RVDLPTWEAE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TIIQKIKQQQ | YADLLSHDQL | LTERREQKVF | LHFEEEEITF | APTYRFERLT | RDKYAYTKQK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ATGMKYNLPS | WCDRVLWKSY | PLVHVVCQSY | GSTSDIMTSD | HSPVFATFEA | GVTSQFVSKN |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GPGTVDSQGQ | IEFLRCYATL | KTKSQTKFYL | EFHSSCLESF | VKSQEGENEE | GSEGELVVKF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GETLPKLKPI | ISDPEYLLDQ | HILISIKSSD | SDESYGEGCI | ALRLEATETQ | LPIYTPLTHH |
| 850 | 860 | 870 | 880 | 890 | 900 |
| GELTGHFQGE | IKLQTSQGKT | REKLYDFVKT | ERDESSGPKT | LKSLTSHDPM | KQWEVTSRAP |
| 910 | 920 | 930 | 940 | 950 | 960 |
| PCSGSSITEI | INPNYMGVGP | FGPPMPLHVK | QTLSPDQQPT | AWSYDQPPKD | SPLGPCRGES |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| PPTPPGQPPI | SPKKFLPSTA | NRGLPPRTQE | SRPSDLGKNA | GDTLPQEDLP | LTKPEMFENP |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LYGSLSSFPK | PAPRKDQESP | KMPRKEPPPC | PEPGILSPSI | VLTKAQEADR | GEGPGKQVPA |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| PRLRSFTCSS | SAEGRAAGGD | KSQGKPKTPV | SSQAPVPAKR | PIKPSRSEIN | QQTPPTPTPR |
| 1150 | 1160 | 1170 | 1180 | ||
| PPLPVKSPAV | LHLQHSKGRD | YRDNTELPHH | GKHRPEEGPP | GPLGRTAMQ |