Q9H0M0
EV
Gene name |
WWP1 |
Protein name |
NEDD4-like E3 ubiquitin-protein ligase WWP1 |
Names |
EC 2.3.2.26 , Atrophin-1-interacting protein 5 , AIP5 , HECT-type E3 ubiquitin transferase WWP1 , TGIF-interacting ubiquitin ligase 1 , Tiul1 , WW domain-containing protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11059 |
EC number |
2.3.2.26: Aminoacyltransferases |
Protein Class |
HECT DOMAIN UBIQUITIN-PROTEIN LIGASE (PTHR11254) |
Descriptions
NEDD4-like E3 ubiquitin-protein ligase WWP1 (WWP1) is an E3 ubiquitin ligase that has been reported to target the tumor suppressor lipid phosphatase PTEN. The germline variants K740N and N745S of WWP1 release it from its native autoinhibited state, promoting enhanced PTEN ubiquitination, and driving cancer progression. The R436Q missense mutation in WWP1 destabilizes 2,3-linker/HECT domain binding, thus relieving autoinhibition of its E3 ubiquitin ligase activity, leading to self-degradation and loss of function.
Autoinhibitory domains (AIDs)
Target domain |
588-922 (HECT domain) |
Relief mechanism |
PTM |
Assay |
Structural analysis, Mutagenesis experiment |
Accessory elements
No accessory elements
References
- Jiang H et al. (2021) "Ubiquitin Ligase Activities of WWP1 Germline Variants K740N and N745S", Biochemistry, 60, 357-364
- Imamura M et al. (2024) "The R436Q missense mutation in WWP1 disrupts autoinhibition of its E3 ubiquitin ligase activity, leading to self-degradation and loss of function", In vitro cellular & developmental biology. Animal, ,
Autoinhibited structure
Activated structure
8 structures for Q9H0M0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1ND7 | X-ray | 210 A | A | 546-917 | PDB |
| 2OP7 | NMR | - | A | 494-532 | PDB |
| 5HPS | X-ray | 205 A | A | 537-917 | PDB |
| 5HPT | X-ray | 284 A | A/D/G | 537-917 | PDB |
| 6J1X | X-ray | 230 A | B | 379-922 | PDB |
| 6J1Y | X-ray | 255 A | A/B | 410-922 | PDB |
| 8EI4 | X-ray | 243 A | A | 546-917 | PDB |
| AF-Q9H0M0-F1 | Predicted | AlphaFoldDB |
775 variants for Q9H0M0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000656199 rs773370868 CA371438957 |
627 | M>L | Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM248363 rs1824485474 |
2 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| TCGA novel | 3 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs868120797 | 4 | A>T | No | Ensembl | |
| rs201951609 | 7 | R>S | No |
1000Genomes ExAC gnomAD |
|
| rs1338034057 | 9 | D>G | No | gnomAD | |
| COSM1458462 | 9 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1397544815 | 10 | T>I | No | TOPMed | |
| rs774859127 | 13 | N>I | No |
ExAC gnomAD |
|
| rs1359375086 | 13 | N>K | No |
TOPMed gnomAD |
|
| rs1824487155 | 14 | H>Y | No | TOPMed | |
| rs1824487311 | 15 | S>G | No | gnomAD | |
| TCGA novel | 15 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750444457 | 17 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1459247079 | 18 | L>F | No | gnomAD | |
| rs1047114989 | 19 | Q>* | No | TOPMed | |
| rs1824488535 | 20 | L>S | No | Ensembl | |
| COSM6181871 | 21 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs763525604 | 21 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs1173363980 | 25 | S>Y | No | gnomAD | |
| rs776053128 | 26 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs1824937342 | 27 | A>T | No | TOPMed | |
| rs1466293983 | 27 | A>V | No | gnomAD | |
| rs1248538067 | 30 | K>N | No | gnomAD | |
| TCGA novel | 31 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 32 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1824938229 | 32 | K>R | No | gnomAD | |
| COSM1232881 | 33 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1399899949 | 33 | K>R | No | gnomAD | |
| rs1668128085 | 34 | N>S | No | Ensembl | |
| rs1824938513 | 35 | W>R | No |
TOPMed gnomAD |
|
| rs553219752 | 37 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1403334873 | 38 | T>I | No | TOPMed | |
| rs1300680876 | 39 | A>T | No | gnomAD | |
| TCGA novel | 40 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs900507117 | 40 | I>V | No | Ensembl | |
| rs1824939974 | 41 | Y>H | No |
TOPMed gnomAD |
|
| rs1171634621 | 42 | T>A | No |
TOPMed gnomAD |
|
| rs1312987618 | 44 | V>I | No | gnomAD | |
| rs1824940439 | 47 | D>G | No | TOPMed | |
| rs1824940725 | 49 | E>D | No | gnomAD | |
| rs1824940583 | 49 | E>K | No | Ensembl | |
|
rs767773883 COSM3901851 |
51 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs767773883 | 51 | T>R | No |
ExAC TOPMed gnomAD |
|
| COSM6181870 | 52 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2130362314 | 54 | A>E | No | Ensembl | |
| rs764215672 | 54 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| COSM1102156 | 55 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754013780 | 55 | K>R | No |
ExAC gnomAD |
|
| rs899766326 | 57 | S>R | No | TOPMed | |
| rs1824942105 | 58 | S>G | No | gnomAD | |
| rs779336984 | 60 | S>A | No |
ExAC TOPMed gnomAD |
|
| COSM4431782 | 60 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs779336984 | 60 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs2130362477 | 63 | K>E | No | Ensembl | |
| TCGA novel | 63 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1177841854 | 64 | W>C | No | gnomAD | |
| rs1824942885 | 66 | E>G | No | TOPMed | |
| rs746102182 | 70 | V>I | No |
ExAC gnomAD |
|
| rs746102182 | 70 | V>L | No |
ExAC gnomAD |
|
| rs781047134 | 71 | N>S | No |
ExAC gnomAD |
|
| COSM1458463 | 72 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
TCGA novel rs1824987539 |
73 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1824988062 | 76 | T>A | No | Ensembl | |
| rs1402129148 | 76 | T>N | No |
TOPMed gnomAD |
|
| COSM1102157 | 77 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777291038 | 77 | T>I | No |
ExAC gnomAD |
|
| rs1426146327 | 79 | E>D | No | gnomAD | |
| rs148496362 | 81 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs1359002936 | 81 | Q>K | No |
TOPMed gnomAD |
|
| rs1353870966 | 82 | V>I | No |
TOPMed gnomAD |
|
| rs79194980 | 85 | H>N | No | Ensembl | |
| rs79194980 | 85 | H>Y | No | Ensembl | |
| rs376034455 | 86 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM316582 rs371650373 |
86 | R>H | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1333567634 | 87 | T>A | No | gnomAD | |
| COSM1458464 | 88 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1458465 | 88 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM278149 | 90 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777212287 | 90 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1824990835 | 91 | D>E | No | Ensembl | |
| rs1824990669 | 91 | D>G | No | TOPMed | |
| rs1445467627 | 92 | A>G | No | gnomAD | |
| rs1824991311 | 95 | G>* | No | Ensembl | |
| COSM5329784 | 95 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 96 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1476647899 | 96 | K>R | No |
TOPMed gnomAD |
|
| rs748748958 | 98 | T>A | No |
ExAC TOPMed gnomAD |
|
|
COSM1458466 rs750571078 |
98 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 99 | I>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 99 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 100 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1824992589 | 106 | L>V | No | TOPMed | |
| rs1824992906 | 107 | I>L | No | Ensembl | |
| rs1321169672 | 108 | H>L | No |
TOPMed gnomAD |
|
| rs1321169672 | 108 | H>P | No |
TOPMed gnomAD |
|
| rs199846033 | 109 | N>D | No | Ensembl | |
| rs1440345932 | 109 | N>S | No | gnomAD | |
| rs371652309 | 112 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| COSM1102158 | 117 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs745539340 | 118 | Q>K | No |
ExAC gnomAD |
|
| rs1807792350 | 119 | L>* | No | Ensembl | |
| rs1807792503 | 120 | K>T | No | Ensembl | |
| rs769103515 | 122 | S>A | No |
ExAC gnomAD |
|
| rs769103515 | 122 | S>P | No |
ExAC gnomAD |
|
| rs762378414 | 123 | L>V | No |
ExAC gnomAD |
|
| rs1195408384 | 124 | E>Q | No | gnomAD | |
| rs1477807458 | 128 | G>S | No | gnomAD | |
| rs770487977 | 129 | I>L | No |
ExAC gnomAD |
|
| rs1427561560 | 129 | I>R | No | gnomAD | |
| rs770487977 | 129 | I>V | No |
ExAC gnomAD |
|
| TCGA novel | 130 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1436294131 | 130 | A>T | No | gnomAD | |
| rs753820908 | 130 | A>V | No |
TOPMed gnomAD |
|
| rs1435476930 | 134 | E>Q | No | Ensembl | |
| rs762880587 | 136 | T>A | No |
ExAC gnomAD |
|
| rs200667503 | 136 | T>I | No |
ExAC gnomAD |
|
| rs767281746 | 138 | V>L | No |
ExAC gnomAD |
|
| rs1807796965 | 141 | G>E | No | gnomAD | |
| rs764079468 | 145 | E>G | No |
ExAC gnomAD |
|
| rs549127870 | 147 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs778516761 | 149 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs756657544 | 149 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs1397111262 | 149 | I>V | No |
TOPMed gnomAD |
|
| rs1451065719 | 150 | T>I | No |
TOPMed gnomAD |
|
| rs1451065719 | 150 | T>K | No |
TOPMed gnomAD |
|
| rs143496169 | 151 | N>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1021928400 | 152 | C>W | No |
TOPMed gnomAD |
|
| rs1586354714 | 153 | S>R | No | Ensembl | |
| rs902195440 | 157 | T>I | No |
TOPMed gnomAD |
|
| rs1807804370 | 158 | I>M | No | Ensembl | |
| rs767796901 | 159 | E>K | No |
ExAC gnomAD |
|
| rs1320414127 | 160 | I>R | No | gnomAD | |
| TCGA novel | 161 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775254736 | 162 | E>A | No |
ExAC gnomAD |
|
| rs555995450 | 165 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs1807805660 | 166 | A>G | No | TOPMed | |
| rs753678548 | 168 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1463702934 | 169 | E>D | No | gnomAD | |
| rs764621036 | 171 | G>E | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 172 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1209580464 | 172 | E>K | No |
TOPMed gnomAD |
|
| rs1393435626 | 173 | P>A | No | gnomAD | |
| rs1393435626 | 173 | P>S | No | gnomAD | |
| rs1756329657 | 174 | S>* | No | TOPMed | |
| rs758108001 | 177 | T>A | No |
ExAC gnomAD |
|
| rs758108001 | 177 | T>S | No |
ExAC gnomAD |
|
| rs1262180616 | 179 | A>S | No | TOPMed | |
| rs779794031 | 180 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs779794031 | 180 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1278987451 | 181 | L>F | No | gnomAD | |
| rs1339113255 | 181 | L>V | No | gnomAD | |
| rs1808010689 | 182 | A>V | No | gnomAD | |
| rs1231399845 | 183 | V>I | No | gnomAD | |
| rs750397448 | 184 | E>G | No |
ExAC gnomAD |
|
| rs538067073 | 185 | G>A | No | TOPMed | |
| rs538067073 | 185 | G>D | No | TOPMed | |
| rs762484613 | 186 | T>A | No |
ExAC gnomAD |
|
| rs766015937 | 186 | T>M | No |
ExAC gnomAD |
|
| rs766015937 | 186 | T>R | No |
ExAC gnomAD |
|
| rs751203429 | 189 | I>M | No |
ExAC gnomAD |
|
| rs1337176530 | 190 | D>N | No | Ensembl | |
| TCGA novel | 191 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1808012595 | 192 | H>Y | No | Ensembl | |
| COSM1102159 | 193 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1376739359 | 194 | P>S | No | gnomAD | |
| rs1376739359 | 194 | P>T | No | gnomAD | |
| rs777972060 | 195 | T>A | No |
ExAC gnomAD |
|
| rs754299143 | 196 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs947926153 | 198 | L>V | No |
TOPMed gnomAD |
|
| rs757693639 | 200 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1808015567 | 202 | S>A | No | Ensembl | |
| rs1470977573 | 203 | C>R | No |
TOPMed gnomAD |
|
| COSM1102160 | 204 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1700310 rs772101198 |
205 | S>L | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs776276535 | 206 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs189923427 | 206 | Y>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs776276535 | 206 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs189923427 | 206 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| COSM6181868 | 206 | Y>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1808017546 | 207 | V>A | No | Ensembl | |
| rs1808019051 | 208 | V>A | No | Ensembl | |
| rs761608913 | 208 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1753354118 | 209 | N>T | No | TOPMed | |
| rs757064879 | 209 | N>Y | No | Ensembl | |
| rs773240325 | 210 | G>A | No |
ExAC gnomAD |
|
| rs769479231 | 210 | G>R | No |
ExAC gnomAD |
|
| rs372903662 | 211 | D>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2130508432 | 211 | D>H | No | Ensembl | |
| rs912870542 | 213 | T>R | No | TOPMed | |
| rs1266150221 | 214 | P>A | No |
TOPMed gnomAD |
|
| rs2130508535 | 214 | P>L | No | Ensembl | |
| rs1266150221 | 214 | P>S | No |
TOPMed gnomAD |
|
| rs1808020885 | 215 | S>L | No | gnomAD | |
| rs2130508586 | 216 | S>F | No | Ensembl | |
| rs765961795 | 217 | P>A | No |
ExAC gnomAD |
|
| rs144084001 | 217 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs765961795 | 217 | P>S | No |
ExAC gnomAD |
|
| rs2130508696 | 219 | Q>R | No | Ensembl | |
| rs1258648312 | 220 | V>D | No |
TOPMed gnomAD |
|
| rs1808022274 | 221 | A>P | No | gnomAD | |
| rs1808022274 | 221 | A>T | No | gnomAD | |
| rs2130508763 | 221 | A>V | No | Ensembl | |
| rs2130508800 | 222 | A>T | No | Ensembl | |
| rs2130508826 | 222 | A>V | No | Ensembl | |
| rs752309357 | 224 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs149685038 | 225 | K>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs149685038 | 225 | K>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1808023410 | 226 | N>S | No | TOPMed | |
| rs199985016 | 227 | T>I | No |
1000Genomes gnomAD |
|
| rs1808024537 | 228 | P>R | No | Ensembl | |
| rs2130508935 | 228 | P>S | No | Ensembl | |
| rs1336160389 | 229 | A>P | No | TOPMed | |
|
COSM3663910 rs1336160389 |
229 | A>T | liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs1305321704 | 230 | P>L | No | gnomAD | |
| rs758955066 | 231 | K>N | No | ExAC | |
| rs2130509085 | 232 | P>L | No | Ensembl | |
| rs995818064 | 232 | P>S | No |
TOPMed gnomAD |
|
| rs1808026363 | 233 | L>R | No | gnomAD | |
| rs768629119 | 234 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs768629119 | 234 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1241979658 | 234 | A>V | No |
TOPMed gnomAD |
|
| rs1007731200 | 235 | S>F | No | gnomAD | |
| rs748348760 | 236 | E>D | No |
ExAC gnomAD |
|
| rs2130509271 | 237 | P>S | No | Ensembl | |
| rs2130509316 | 238 | A>T | No | Ensembl | |
| rs868000808 | 238 | A>V | No | Ensembl | |
| rs1386201213 | 239 | D>A | No | TOPMed | |
| rs2130509373 | 239 | D>N | No | Ensembl | |
| rs1808028258 | 240 | D>H | No | TOPMed | |
| rs1808028258 | 240 | D>N | No | TOPMed | |
| rs375802955 | 241 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2130509505 | 242 | V>I | No | Ensembl | |
| rs1258854125 | 243 | N>H | No |
TOPMed gnomAD |
|
| rs756328974 | 244 | G>R | No |
ExAC gnomAD |
|
| rs1808584895 | 245 | E>V | No | Ensembl | |
| rs777702857 | 247 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs749155862 | 248 | S>L | No |
ExAC gnomAD |
|
| rs1808585198 | 248 | S>P | No | TOPMed | |
| rs1482225682 | 249 | F>Y | No | gnomAD | |
| rs770865889 | 250 | A>V | No |
ExAC gnomAD |
|
| rs1808586058 | 251 | P>S | No | Ensembl | |
| rs774368754 | 252 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs745827094 | 252 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs745827094 | 252 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs771562484 | 253 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs774912106 | 254 | N>D | No |
ExAC gnomAD |
|
| rs760345631 | 254 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs570567420 | 255 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1010777389 | 258 | T>M | No |
TOPMed gnomAD |
|
| rs1808588239 | 259 | G>C | No | Ensembl | |
| rs752054790 | 259 | G>V | No |
ExAC gnomAD |
|
|
rs1204361361 COSM1635886 |
261 | P>L | liver [Cosmic] | No |
cosmic curated Ensembl |
| rs1191584242 | 262 | V>A | No | gnomAD | |
| rs767599555 | 262 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs1808589760 | 266 | E>K | No | Ensembl | |
| rs1808589905 | 268 | A>T | No | Ensembl | |
| COSM751573 | 268 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1808591000 | 271 | P>T | No |
TOPMed gnomAD |
|
| COSM3784173 | 272 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1808591255 | 272 | N>S | No | TOPMed | |
| rs1808591682 | 273 | C>G | No | TOPMed | |
| rs1172787333 | 274 | T>A | No | gnomAD | |
| rs749529794 | 275 | S>G | No |
ExAC gnomAD |
|
| rs1808592347 | 275 | S>R | No | gnomAD | |
| TCGA novel | 276 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs778595986 | 277 | T>A | No |
ExAC TOPMed gnomAD |
|
| COSM291442 | 277 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs771946094 | 280 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs745796720 | 280 | D>V | No |
ExAC gnomAD |
|
| rs376990767 | 281 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1234019429 | 282 | P>S | No |
TOPMed gnomAD |
|
|
COSM3951998 rs1234019429 |
282 | P>T | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1168726455 | 286 | I>T | No | gnomAD | |
| rs1808594417 | 286 | I>V | No | gnomAD | |
| COSM1102161 | 287 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 288 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs539502419 | 289 | S>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs755456055 | 290 | S>L | No |
ExAC gnomAD |
|
| rs776225114 | 291 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1052021837 | 292 | N>I | No | gnomAD | |
| rs1052021837 | 292 | N>S | No | gnomAD | |
| rs1808595480 | 293 | N>D | No |
TOPMed gnomAD |
|
| TCGA novel | 293 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs996685758 | 293 | N>S | No |
TOPMed gnomAD |
|
| rs761476274 | 296 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs771259130 | 299 | T>I | No |
ExAC TOPMed gnomAD |
|
| COSM751572 | 299 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs759549299 | 301 | A>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 302 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs201096113 | 303 | L>F | No | 1000Genomes | |
| rs753264630 | 304 | E>D | No |
ExAC TOPMed |
|
| rs1388325598 | 304 | E>K | No |
TOPMed gnomAD |
|
| rs1388325598 | 304 | E>Q | No |
TOPMed gnomAD |
|
| rs760773219 | 306 | E>Q | No |
ExAC gnomAD |
|
| COSM4908513 | 307 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1384180607 | 307 | A>T | No | gnomAD | |
| rs142420457 | 307 | A>V | No |
1000Genomes ExAC gnomAD |
|
| COSM1102163 | 309 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754068799 | 309 | S>N | No |
ExAC gnomAD |
|
| rs757603124 | 310 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs1439774671 | 311 | L>F | No |
TOPMed gnomAD |
|
| rs1373594423 | 312 | E>D | No | gnomAD | |
| rs778739340 | 312 | E>Q | No |
ExAC gnomAD |
|
| rs750255116 | 313 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs1808599033 | 314 | D>H | No | Ensembl | |
| rs758344151 | 316 | S>P | No |
ExAC gnomAD |
|
| rs779787218 | 316 | S>Y | No |
ExAC gnomAD |
|
| rs746978277 | 319 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs187647241 | 319 | R>T | No |
1000Genomes ExAC gnomAD |
|
| rs1808600282 | 320 | S>G | No | TOPMed | |
| rs141080069 | 320 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1808600282 | 320 | S>R | No | TOPMed | |
| rs369213021 | 322 | S>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs1808601538 | 323 | A>S | No | Ensembl | |
| rs1469603637 | 324 | F>S | No |
TOPMed gnomAD |
|
| rs1179402085 | 325 | E>G | No |
TOPMed gnomAD |
|
| rs772492166 | 326 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs972398529 | 326 | A>V | No |
TOPMed gnomAD |
|
| COSM3901853 | 327 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs927648224 | 329 | S>L | No |
TOPMed gnomAD |
|
| rs373766321 | 331 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs1243399358 | 332 | P>L | No | TOPMed | |
| rs1243399358 | 332 | P>Q | No | TOPMed | |
| rs1460492722 | 332 | P>S | No | gnomAD | |
| COSM1102164 | 332 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761290731 | 333 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs761290731 | 333 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs1396234200 | 334 | G>R | No | gnomAD | |
| rs754011648 | 335 | C>Y | No |
ExAC gnomAD |
|
| rs200063533 | 336 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs200063533 | 336 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs765437497 | 337 | D>G | No |
ExAC gnomAD |
|
| rs377083766 | 338 | P>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs377083766 | 338 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs199881497 | 339 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs751475642 | 340 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
COSM1458467 rs779921371 |
340 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1275209709 | 342 | Q>E | No |
TOPMed gnomAD |
|
| rs754944012 | 342 | Q>H | No |
ExAC gnomAD |
|
| rs1808605507 | 343 | S>Y | No | TOPMed | |
| rs1808605652 | 345 | N>D | No | TOPMed | |
|
COSM3699193 rs1193846539 |
346 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs2130566653 | 347 | N>K | No | Ensembl | |
| rs780671317 | 347 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs780671317 | 347 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs2130566678 | 348 | T>P | No | Ensembl | |
|
rs755660986 COSM3651501 |
350 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs755660986 | 350 | T>N | No |
ExAC gnomAD |
|
| rs1255343260 | 351 | L>F | No | gnomAD | |
| COSM3901854 | 353 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1474559815 | 354 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs777369390 | 355 | W>G | No |
ExAC gnomAD |
|
| rs756975354 | 357 | Q>E | No |
ExAC TOPMed |
|
| COSM1102165 | 358 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1809551798 | 358 | R>K | No | TOPMed | |
| rs547882511 | 360 | D>E | No |
1000Genomes ExAC gnomAD |
|
| rs1809552023 | 360 | D>Y | No |
TOPMed gnomAD |
|
| rs1809552275 | 361 | P>R | No | Ensembl | |
| rs1435944422 | 362 | H>D | No | gnomAD | |
| rs1809552562 | 362 | H>R | No | Ensembl | |
| rs747437698 | 363 | G>D | No |
ExAC gnomAD |
|
| rs1264775874 | 364 | R>T | No |
TOPMed gnomAD |
|
| rs570827089 | 365 | T>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1359894365 | 366 | Y>H | No | gnomAD | |
| rs1309201981 | 368 | V>M | No |
TOPMed gnomAD |
|
| rs1214092742 | 369 | D>Y | No | gnomAD | |
| rs1809554160 | 371 | N>S | No | TOPMed | |
| rs267602027 | 373 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
rs267602027 COSM170354 |
373 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs748709823 | 374 | T>I | No |
ExAC gnomAD |
|
| rs769739686 | 375 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1809555073 | 376 | T>A | No | TOPMed | |
| rs1809555414 | 377 | W>S | No | gnomAD | |
| rs1809555542 | 379 | R>G | No | Ensembl | |
| rs1809555813 | 380 | P>L | No | TOPMed | |
| TCGA novel | 387 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1809708149 | 389 | R>S | No | Ensembl | |
| COSM1102166 | 391 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1809708321 | 393 | D>V | No | gnomAD | |
|
COSM1232883 rs750107029 |
394 | R>C | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs138527714 | 394 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| COSM3651502 | 395 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM422048 | 396 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1474120058 | 397 | V>F | No | gnomAD | |
| rs1020503609 | 398 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1809709225 | 401 | D>G | No | TOPMed | |
| rs1809709376 | 402 | H>R | No | gnomAD | |
| rs936137600 | 405 | R>G | No |
TOPMed gnomAD |
|
| rs770399298 | 406 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs757963925 | 408 | T>A | No | TOPMed | |
| rs1371065516 | 408 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1390789627 | 409 | W>* | No | gnomAD | |
| rs1307660179 | 410 | Q>L | No | gnomAD | |
| rs1307660179 | 410 | Q>R | No | gnomAD | |
| rs777697555 | 411 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1000345669 | 411 | R>W | No | Ensembl | |
| rs1230940478 | 414 | M>R | No | gnomAD | |
| rs1809711782 | 414 | M>V | No | TOPMed | |
|
rs749327525 COSM1673990 |
415 | E>* | central_nervous_system [Cosmic] | No |
cosmic curated ExAC gnomAD |
| COSM3651503 | 416 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs538602457 | 416 | S>T | No |
1000Genomes ExAC gnomAD |
|
| rs774514461 | 417 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs774514461 | 417 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs771835365 | 418 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs747908301 | 418 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs991546927 | 419 | N>S | No | TOPMed | |
| rs1809713400 | 422 | Q>R | No | TOPMed | |
| rs867242803 | 426 | Q>K | No | Ensembl | |
|
rs753733811 COSM1458469 |
427 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1024729624 COSM1232880 |
427 | R>W | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs1418832203 | 431 | Q>* | No |
TOPMed gnomAD |
|
| rs1418832203 | 431 | Q>K | No |
TOPMed gnomAD |
|
| TCGA novel | 433 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761322468 | 434 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs761322468 | 434 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1461315975 | 437 | F>C | No | gnomAD | |
| rs750076594 | 440 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs1457591395 | 440 | R>Q | No | gnomAD | |
| rs1586434220 | 441 | Y>F | No | Ensembl | |
| COSM248362 | 444 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1586441114 | 445 | A>G | No | Ensembl | |
| rs1360842552 | 446 | S>L | No | gnomAD | |
| rs768342604 | 447 | M>V | No |
ExAC gnomAD |
|
| rs1809890330 | 448 | L>V | No | Ensembl | |
| rs776594160 | 449 | A>T | No |
ExAC TOPMed gnomAD |
|
|
rs1809890615 TCGA novel |
450 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1210747041 | 452 | N>S | No | gnomAD | |
| COSM1458470 | 453 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764808098 | 454 | P>H | No |
ExAC gnomAD |
|
| TCGA novel | 454 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs867483363 | 454 | P>T | No | Ensembl | |
| rs1586441229 | 455 | Y>C | No | Ensembl | |
| rs148344407 | 455 | Y>N | No |
ESP ExAC TOPMed gnomAD |
|
| COSM3779392 | 456 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1245366967 | 461 | G>C | No | gnomAD | |
| COSM1102167 | 461 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs866262124 | 462 | W>G | No | Ensembl | |
|
rs1563527143 COSM5146291 |
465 | R>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs76053304 | 465 | R>I | No |
TOPMed gnomAD |
|
| TCGA novel | 465 | R>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1160854523 | 466 | V>M | No | gnomAD | |
| rs757747889 | 470 | D>H | No |
ExAC gnomAD |
|
|
COSM3952001 rs765679738 |
471 | R>S | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs750936669 | 472 | V>F | No |
ExAC gnomAD |
|
| rs1472777529 | 477 | H>R | No | gnomAD | |
| TCGA novel | 477 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1809972836 | 479 | T>I | No | TOPMed | |
| rs1809972836 | 479 | T>K | No | TOPMed | |
| rs2130678073 | 480 | K>E | No | Ensembl | |
| rs1031123469 | 483 | Q>H | No | gnomAD | |
| rs2130678082 | 483 | Q>R | No | Ensembl | |
| COSM1102168 | 488 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1404328136 | 488 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1405681902 | 489 | T>I | No | gnomAD | |
| rs1809973681 | 491 | G>C | No | gnomAD | |
| rs1474610379 | 492 | L>S | No | gnomAD | |
| rs201863324 | 497 | P>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs765624718 | 497 | P>T | No |
ExAC gnomAD |
|
| rs2130678976 | 501 | G>C | No | Ensembl | |
| rs1554571693 | 502 | W>* | No | Ensembl | |
| TCGA novel | 502 | W>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1311625852 | 506 | Y>* | No |
TOPMed gnomAD |
|
| rs751644854 | 508 | R>C | No |
ExAC TOPMed gnomAD |
|
|
rs61761628 COSM3432590 |
508 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs751644854 | 508 | R>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 509 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1315031220 | 510 | G>V | No |
TOPMed gnomAD |
|
| rs1324975965 | 513 | Y>C | No | gnomAD | |
| TCGA novel | 517 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3835086 | 517 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1809983787 | 519 | T>I | No | Ensembl | |
| TCGA novel | 520 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1269432776 | 520 | R>K | No | gnomAD | |
| rs1809984578 | 521 | T>K | No | TOPMed | |
| rs1488796127 | 522 | T>I | No |
TOPMed gnomAD |
|
| rs992628714 | 523 | T>A | No |
TOPMed gnomAD |
|
| rs1357382364 | 525 | K>T | No |
TOPMed gnomAD |
|
| rs1586445319 | 526 | D>V | No | TOPMed | |
| rs781497511 | 528 | R>C | No |
ExAC TOPMed gnomAD |
|
|
COSM1102169 rs554041348 |
528 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
| rs1278127837 | 530 | G>R | No |
TOPMed gnomAD |
|
| rs777758049 | 533 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs777758049 | 533 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs749208541 | 534 | V>A | No |
ExAC gnomAD |
|
| rs1809987251 | 534 | V>I | No |
TOPMed gnomAD |
|
| rs757090241 | 535 | T>A | No |
ExAC gnomAD |
|
| rs966337506 | 535 | T>I | No |
TOPMed gnomAD |
|
| rs911537998 | 537 | G>S | No | gnomAD | |
| rs778649126 | 538 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs745853949 | 540 | Q>K | No |
ExAC gnomAD |
|
| rs1303348208 | 542 | A>T | No | gnomAD | |
| COSM5191841 | 545 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1102170 | 545 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 546 | G>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779590886 | 546 | G>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 548 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1330846617 | 553 | H>Y | No | gnomAD | |
| rs1182569609 | 555 | R>C | No | TOPMed | |
| rs770148262 | 555 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1810242339 | 559 | Q>R | No | TOPMed | |
| rs1048994279 | 560 | S>T | No | TOPMed | |
| rs1480623820 | 563 | L>I | No | gnomAD | |
| rs1480623820 | 563 | L>V | No | gnomAD | |
| TCGA novel | 564 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2130698601 | 564 | P>L | No | Ensembl | |
| rs1452757676 | 565 | S>G | No | Ensembl | |
| rs202218609 | 567 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1810249614 | 568 | K>E | No | Ensembl | |
| COSM1102171 | 568 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750308649 | 568 | K>T | No |
ExAC gnomAD |
|
| rs141471813 | 570 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1414803397 | 571 | V>M | No | gnomAD | |
| rs1424170269 | 572 | S>F | No |
TOPMed gnomAD |
|
| rs1187498032 | 572 | S>P | No |
TOPMed gnomAD |
|
| rs1187498032 | 572 | S>T | No |
TOPMed gnomAD |
|
| COSM3901856 | 574 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 578 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1185189421 | 580 | S>A | No | TOPMed | |
| rs751524730 | 584 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs1810423203 | 584 | I>T | No | gnomAD | |
| rs754435365 | 585 | M>T | No |
ExAC gnomAD |
|
| rs1586463477 | 585 | M>V | No | Ensembl | |
| rs1810423833 | 586 | A>S | No | TOPMed | |
| rs1346438348 | 587 | L>S | No | Ensembl | |
| TCGA novel | 588 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1810424094 | 588 | K>Q | No | Ensembl | |
| rs780803256 | 589 | P>R | No |
ExAC gnomAD |
|
| rs1586463524 | 590 | Y>H | No | Ensembl | |
| rs1586463524 | 590 | Y>N | No | Ensembl | |
| rs1810424727 | 591 | D>G | No | TOPMed | |
| COSM286551 | 591 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs889745188 | 593 | R>K | No | TOPMed | |
| rs746179892 | 595 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1102172 rs1043774516 |
595 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs868753141 COSM264714 |
597 | Y>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs780667679 | 597 | Y>H | No |
ExAC TOPMed gnomAD |
|
| rs780667679 | 597 | Y>N | No |
ExAC TOPMed gnomAD |
|
| rs1810426280 | 598 | V>I | No | TOPMed | |
| rs1254795575 | 599 | I>T | No | gnomAD | |
| rs779675593 | 601 | R>K | No | gnomAD | |
| rs1247652493 | 602 | G>E | No |
TOPMed gnomAD |
|
| rs776815392 | 602 | G>R | No |
ExAC gnomAD |
|
| TCGA novel | 606 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1452572470 | 609 | G>V | No |
TOPMed gnomAD |
|
|
rs749190769 COSM287598 |
612 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs138176494 | 615 | W>C | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 616 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1217973110 | 619 | L>P | No | TOPMed | |
| rs1810650216 | 623 | V>I | No | gnomAD | |
| rs1162714604 | 624 | L>W | No | Ensembl | |
| COSM3901857 | 625 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1273842780 | 626 | P>S | No | gnomAD | |
| rs1810650855 | 627 | M>T | No | gnomAD | |
| rs773370868 | 627 | M>V | No |
ExAC TOPMed gnomAD |
|
| COSM5644912 | 628 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1372703186 | 628 | Y>H | No | gnomAD | |
| rs1473285043 | 629 | C>Y | No |
TOPMed gnomAD |
|
| rs971957358 | 631 | F>L | No | gnomAD | |
| rs1810651727 | 633 | Y>F | No | gnomAD | |
| rs550340899 | 634 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1810652427 | 635 | G>V | No |
TOPMed gnomAD |
|
| rs759377599 | 636 | K>R | No |
ExAC gnomAD |
|
| rs1810652930 | 640 | C>Y | No | gnomAD | |
| TCGA novel | 642 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1810653068 | 643 | I>L | No |
1000Genomes TOPMed |
|
| rs1810653068 | 643 | I>V | No |
1000Genomes TOPMed |
|
| rs1394012862 | 645 | P>A | No |
TOPMed gnomAD |
|
| TCGA novel | 646 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1810654221 | 650 | N>S | No | gnomAD | |
| rs1170942570 | 652 | D>N | No | gnomAD | |
| TCGA novel | 652 | D>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3835087 | 654 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1396782946 | 656 | Y>H | No | gnomAD | |
| rs142758930 | 658 | C>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1362591447 | 659 | F>S | No | TOPMed | |
| rs1432636663 | 660 | I>V | No | gnomAD | |
| rs1296770897 | 662 | R>C | No | gnomAD | |
|
rs910319561 COSM1288979 |
662 | R>H | Variant assessed as Somatic; MODERATE impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1229951493 | 663 | F>L | No | gnomAD | |
| rs1253783501 | 665 | A>T | No | gnomAD | |
| rs757014900 | 666 | M>I | No |
ExAC gnomAD |
|
|
rs1391523249 COSM3901859 |
666 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1208463945 | 667 | A>E | No |
TOPMed gnomAD |
|
| rs1208463945 | 667 | A>V | No |
TOPMed gnomAD |
|
| COSM454908 | 670 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs915199270 | 672 | K>R | No |
TOPMed gnomAD |
|
| rs1810986572 | 673 | F>I | No |
TOPMed gnomAD |
|
| rs1208514678 | 674 | I>V | No | gnomAD | |
|
rs1433837234 COSM1102173 |
675 | D>N | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| COSM2789680 | 678 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1810987275 | 681 | P>T | No | TOPMed | |
| rs201766606 | 682 | F>L | No | 1000Genomes | |
| rs146280768 | 685 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs767817046 | 685 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1402642563 | 687 | L>F | No | TOPMed | |
| rs756645608 | 688 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1364749490 | 688 | S>R | No |
TOPMed gnomAD |
|
| TCGA novel | 688 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1291647001 | 690 | K>N | No | gnomAD | |
| rs1810988994 | 691 | L>F | No |
TOPMed gnomAD |
|
| rs754325086 | 693 | I>N | No | Ensembl | |
| rs1810989620 | 693 | I>V | No | Ensembl | |
| rs1810990047 | 694 | K>R | No | gnomAD | |
|
COSM4898478 rs1810990476 |
695 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1810990684 | 697 | E>K | No | Ensembl | |
| rs1023293378 | 699 | I>M | No | TOPMed | |
| rs1011927449 | 699 | I>V | No |
TOPMed gnomAD |
|
| rs1810991833 | 703 | F>L | No | TOPMed | |
| rs757334475 | 704 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs757334475 | 704 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs771879285 | 708 | I>T | No |
ExAC gnomAD |
|
| TCGA novel | 709 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs970989700 | 710 | I>L | No | TOPMed | |
| COSM1489458 | 711 | R>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1304903182 | 715 | I>T | No | gnomAD | |
| COSM1458471 | 717 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1810997188 | 717 | E>D | No | Ensembl | |
| rs1408692748 | 720 | L>F | No | gnomAD | |
| rs767919094 | 720 | L>V | No |
ExAC gnomAD |
|
| TCGA novel | 721 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753061595 | 721 | E>K | No |
ExAC gnomAD |
|
| rs1810998149 | 722 | M>I | No | gnomAD | |
| rs764517290 | 722 | M>V | No |
ExAC gnomAD |
|
| rs906171782 | 723 | Y>C | No |
TOPMed gnomAD |
|
| rs1015233477 | 723 | Y>H | No |
TOPMed gnomAD |
|
| rs754375920 | 725 | S>A | No |
ExAC gnomAD |
|
| rs754375920 | 725 | S>P | No |
ExAC gnomAD |
|
| TCGA novel | 726 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs144129917 | 726 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM1458472 | 727 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs779014326 | 728 | M>L | No |
ExAC gnomAD |
|
| rs779014326 | 728 | M>V | No |
ExAC gnomAD |
|
| rs1247567502 | 729 | E>V | No |
TOPMed gnomAD |
|
| rs1366046029 | 730 | I>T | No |
TOPMed gnomAD |
|
| rs1810999664 | 731 | L>S | No | Ensembl | |
| rs1810999805 | 732 | G>E | No | gnomAD | |
| rs750628033 | 734 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs750628033 | 734 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1254229169 | 735 | T>A | No | gnomAD | |
| rs779890636 | 735 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs1179872319 | 736 | S>A | No | gnomAD | |
| rs1431330776 | 737 | H>Y | No | TOPMed | |
| rs1255156746 | 739 | L>V | No | gnomAD | |
| rs144060832 | 740 | K>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs768580133 | 741 | L>F | No |
ExAC gnomAD |
|
| rs1158506249 | 742 | G>A | No | gnomAD | |
| rs781224009 | 742 | G>R | No |
ExAC gnomAD |
|
| rs148651938 | 745 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs148651938 | 745 | N>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1811002237 | 746 | I>T | No | Ensembl | |
| rs112688467 | 747 | L>P | No | Ensembl | |
| COSM1458473 | 748 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772664526 | 751 | E>D | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 752 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 753 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1445309594 | 755 | E>A | No | gnomAD | |
| rs1421280469 | 757 | I>V | No | TOPMed | |
| rs1248781166 | 758 | G>S | No |
TOPMed gnomAD |
|
| rs1353228758 | 760 | M>I | No | gnomAD | |
| TCGA novel | 762 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs545773497 | 764 | R>C | No |
1000Genomes ExAC gnomAD |
|
|
COSM1458474 rs527247142 |
764 | R>H | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| rs1055454943 | 765 | F>S | No | Ensembl | |
|
rs2130757963 COSM1489459 |
767 | R>* | Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs777777787 | 767 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs777777787 | 767 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs748679774 | 769 | V>E | No |
ExAC gnomAD |
|
| rs773827652 | 770 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs1265962051 | 771 | E>K | No |
TOPMed gnomAD |
|
| rs376068337 | 771 | E>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1243784809 | 773 | T>I | No | gnomAD | |
| rs1216341498 | 773 | T>S | No | gnomAD | |
| rs1044127879 | 774 | K>I | No |
TOPMed gnomAD |
|
| rs1044127879 | 774 | K>R | No |
TOPMed gnomAD |
|
| TCGA novel | 774 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1811234119 | 778 | D>G | No | gnomAD | |
|
COSM3432591 rs1285827381 |
779 | G>D | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs896093050 | 781 | N>S | No | Ensembl | |
| rs1476755269 | 782 | E>D | No | gnomAD | |
| rs1811235705 | 785 | P>R | No | Ensembl | |
| rs905606341 | 785 | P>S | No |
TOPMed gnomAD |
|
| rs777047769 | 790 | Q>K | No |
ExAC gnomAD |
|
| rs142118529 | 790 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs750948404 | 793 | D>Y | No | ExAC | |
| rs766362220 | 800 | M>T | No |
ExAC TOPMed |
|
| TCGA novel | 804 | M>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 805 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1811549233 | 806 | E>D | No | TOPMed | |
| rs757595282 | 809 | L>M | No | Ensembl | |
| rs1202484544 | 810 | A>V | No | gnomAD | |
| TCGA novel | 812 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1438083370 | 812 | W>C | No | gnomAD | |
| rs759699894 | 812 | W>G | No |
ExAC gnomAD |
|
| rs759699894 | 812 | W>R | No |
ExAC gnomAD |
|
| rs1183571122 | 814 | R>I | No | gnomAD | |
| rs1214393586 | 815 | N>H | No | TOPMed | |
| TCGA novel | 816 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1811550936 | 819 | R>* | No | gnomAD | |
|
rs544782029 COSM2789694 |
819 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes NCI-TCGA |
| rs752999713 | 820 | H>Y | No |
ExAC gnomAD |
|
| rs1811551537 | 822 | T>I | No | Ensembl | |
| COSM3901861 | 823 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs199521023 | 824 | N>I | No | 1000Genomes | |
| rs199521023 | 824 | N>S | No | 1000Genomes | |
| rs1811551981 | 825 | S>T | No |
TOPMed gnomAD |
|
| rs1563551503 | 828 | I>T | No | Ensembl | |
| rs948942977 | 829 | I>V | No |
TOPMed gnomAD |
|
| rs1225503725 | 834 | F>L | No | gnomAD | |
| COSM294955 | 835 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs771409401 | 836 | K>R | No |
ExAC gnomAD |
|
| COSM1102175 | 837 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs368913513 | 837 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs1276075425 | 840 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs767726159 | 842 | V>E | No |
ExAC gnomAD |
|
| rs1811753223 | 842 | V>I | No | TOPMed | |
| rs954212268 | 844 | M>T | No | Ensembl | |
| rs2130103097 | 844 | M>V | No | Ensembl | |
| rs375348600 | 845 | R>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs1448247426 | 845 | R>Q | No | gnomAD | |
| rs1301428328 | 848 | Q>H | No | gnomAD | |
| COSM3901862 | 849 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs369748307 | 850 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| COSM3901863 | 850 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1228806029 | 852 | G>V | No | Ensembl | |
| rs761529616 | 855 | R>H | No |
ExAC gnomAD |
|
| rs2130103739 | 857 | P>S | No | Ensembl | |
| rs1408062707 | 859 | G>E | No | gnomAD | |
| rs1337193890 | 859 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs765094785 | 863 | E>K | No |
ExAC gnomAD |
|
| rs765094785 | 863 | E>Q | No |
ExAC gnomAD |
|
| rs750395095 | 864 | L>F | No |
ExAC gnomAD |
|
| rs141156321 | 865 | M>L | No |
ESP ExAC gnomAD |
|
| rs141156321 | 865 | M>V | No |
ESP ExAC gnomAD |
|
| rs145012542 | 867 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs1008486740 | 867 | S>I | No | TOPMed | |
| rs1041283027 | 869 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs780854759 | 872 | K>N | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 872 | K>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757674502 | 874 | C>* | No |
ExAC gnomAD |
|
| rs752313783 | 874 | C>S | No |
ExAC gnomAD |
|
| rs779460630 | 875 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs746374616 | 877 | K>R | No |
ExAC TOPMed |
|
| rs1303825191 | 878 | V>A | No | TOPMed | |
| rs1811781781 | 878 | V>F | No | gnomAD | |
| rs774414394 | 879 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs774414394 | 879 | G>V | No |
TOPMed gnomAD |
|
| rs772765444 | 880 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs773330160 | 882 | T>I | No |
TOPMed gnomAD |
|
| rs1811783035 | 885 | P>L | No | Ensembl | |
| rs191560534 | 885 | P>S | No |
1000Genomes ExAC gnomAD |
|
| rs1304580232 | 886 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| TCGA novel | 887 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1812195594 | 891 | F>L | No | TOPMed | |
|
TCGA novel rs1812195859 |
893 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs755897749 | 893 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1812196366 | 895 | D>V | No | Ensembl | |
| rs1248227368 | 897 | P>Q | No | gnomAD | |
| rs752555908 | 899 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1812197197 | 899 | Y>H | No | gnomAD | |
| rs1205421104 | 900 | K>R | No | gnomAD | |
| rs1812198027 | 901 | S>G | No | TOPMed | |
| rs1253304877 | 902 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1253304877 | 902 | Y>F | No |
TOPMed gnomAD |
|
| rs1812198811 | 904 | Q>K | No | TOPMed | |
| rs2130178420 | 906 | K>T | No | Ensembl | |
| rs2130178460 | 907 | E>D | No | Ensembl | |
| rs56037084 | 909 | L>F | No | Ensembl | |
| rs534097464 | 910 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs747496330 | 912 | A>S | No |
ExAC gnomAD |
|
| rs1427414828 | 916 | T>R | No | gnomAD | |
| rs1355974312 | 917 | E>D | No | gnomAD | |
| rs1336532503 | 920 | G>A | No | gnomAD | |
| TCGA novel | 920 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1455003973 | 923 | E>= | No | gnomAD |
No associated diseases with Q9H0M0
6 regional properties for Q9H0M0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 1 - 116 | IPR000008 |
| domain | HECT domain | 568 - 922 | IPR000569 |
| domain | WW domain | 349 - 382 | IPR001202-1 |
| domain | WW domain | 381 - 414 | IPR001202-2 |
| domain | WW domain | 456 - 489 | IPR001202-3 |
| domain | WW domain | 496 - 529 | IPR001202-4 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.26 | Aminoacyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR11254 | HECT DOMAIN UBIQUITIN-PROTEIN LIGASE |
| PANTHER Subfamily | PTHR11254:SF299 | NEDD4-LIKE E3 UBIQUITIN-PROTEIN LIGASE WWP1 |
| PANTHER Protein Class | ubiquitin-protein ligase | |
| PANTHER Pathway Category |
Ubiquitin proteasome pathway E3 |
|
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| ubiquitin ligase complex | A protein complex that includes a ubiquitin-protein ligase and enables ubiquitin protein ligase activity. The complex also contains other proteins that may confer substrate specificity on the complex. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond |
| ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| central nervous system development | The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. |
| monoatomic ion transmembrane transport | A process in which a monoatomic ion is transported across a membrane. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| proteasome-mediated ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| 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. |
| viral entry into host cell | The process that occurs after viral attachment by which a virus, or viral nucleic acid, breaches the plasma membrane or cell envelope and enters the host cell. The process ends when the viral nucleic acid is released into the host cell cytoplasm. |
23 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P39940 | RSP5 | E3 ubiquitin-protein ligase RSP5 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q9V853 | Smurf | E3 ubiquitin-protein ligase Smurf1 | Drosophila melanogaster (Fruit fly) | SS |
| Q9Y0H4 | Su(dx) | E3 ubiquitin-protein ligase Su | Drosophila melanogaster (Fruit fly) | SS |
| O95817 | BAG3 | BAG family molecular chaperone regulator 3 | Homo sapiens (Human) | PR |
| O60861 | GAS7 | Growth arrest-specific protein 7 | Homo sapiens (Human) | PR |
| Q9HCE7 | SMURF1 | E3 ubiquitin-protein ligase SMURF1 | Homo sapiens (Human) | PR |
| Q9HAU4 | SMURF2 | E3 ubiquitin-protein ligase SMURF2 | Homo sapiens (Human) | EV |
| Q96J02 | ITCH | E3 ubiquitin-protein ligase Itchy homolog | Homo sapiens (Human) | EV |
| O00308 | WWP2 | NEDD4-like E3 ubiquitin-protein ligase WWP2 | Homo sapiens (Human) | EV |
| Q96PU5 | NEDD4L | E3 ubiquitin-protein ligase NEDD4-like | Homo sapiens (Human) | PR |
| P46934 | NEDD4 | E3 ubiquitin-protein ligase NEDD4 | Homo sapiens (Human) | EV |
| Q8IYU2 | HACE1 | E3 ubiquitin-protein ligase HACE1 | Homo sapiens (Human) | EV |
| P46935 | Nedd4 | E3 ubiquitin-protein ligase NEDD4 | Mus musculus (Mouse) | PR |
| Q9CUN6 | Smurf1 | E3 ubiquitin-protein ligase SMURF1 | Mus musculus (Mouse) | PR |
| A2A5Z6 | Smurf2 | E3 ubiquitin-protein ligase SMURF2 | Mus musculus (Mouse) | SS |
| Q60780 | Gas7 | Growth arrest-specific protein 7 | Mus musculus (Mouse) | PR |
| Q8C863 | Itch | E3 ubiquitin-protein ligase Itchy | Mus musculus (Mouse) | EV |
| Q9DBH0 | Wwp2 | NEDD4-like E3 ubiquitin-protein ligase WWP2 | Mus musculus (Mouse) | SS |
| Q8CFI0 | Nedd4l | E3 ubiquitin-protein ligase NEDD4-like | Mus musculus (Mouse) | PR |
| Q8BZZ3 | Wwp1 | NEDD4-like E3 ubiquitin-protein ligase WWP1 | Mus musculus (Mouse) | SS |
| Q62940 | Nedd4 | E3 ubiquitin-protein ligase NEDD4 | Rattus norvegicus (Rat) | PR |
| Q9N2Z7 | wwp-1 | E3 ubiquitin-protein ligase wwp-1 | Caenorhabditis elegans | SS |
| A9JRZ0 | smurf2 | E3 ubiquitin-protein ligase SMURF2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATASPRSDT | SNNHSGRLQL | QVTVSSAKLK | RKKNWFGTAI | YTEVVVDGEI | TKTAKSSSSS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NPKWDEQLTV | NVTPQTTLEF | QVWSHRTLKA | DALLGKATID | LKQALLIHNR | KLERVKEQLK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LSLENKNGIA | QTGELTVVLD | GLVIEQENIT | NCSSSPTIEI | QENGDALHEN | GEPSARTTAR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LAVEGTNGID | NHVPTSTLVQ | NSCCSYVVNG | DNTPSSPSQV | AARPKNTPAP | KPLASEPADD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TVNGESSSFA | PTDNASVTGT | PVVSEENALS | PNCTSTTVED | PPVQEILTSS | ENNECIPSTS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AELESEARSI | LEPDTSNSRS | SSAFEAAKSR | QPDGCMDPVR | QQSGNANTET | LPSGWEQRKD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PHGRTYYVDH | NTRTTTWERP | QPLPPGWERR | VDDRRRVYYV | DHNTRTTTWQ | RPTMESVRNF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EQWQSQRNQL | QGAMQQFNQR | YLYSASMLAA | ENDPYGPLPP | GWEKRVDSTD | RVYFVNHNTK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TTQWEDPRTQ | GLQNEEPLPE | GWEIRYTREG | VRYFVDHNTR | TTTFKDPRNG | KSSVTKGGPQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IAYERGFRWK | LAHFRYLCQS | NALPSHVKIN | VSRQTLFEDS | FQQIMALKPY | DLRRRLYVIF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RGEEGLDYGG | LAREWFFLLS | HEVLNPMYCL | FEYAGKNNYC | LQINPASTIN | PDHLSYFCFI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GRFIAMALFH | GKFIDTGFSL | PFYKRMLSKK | LTIKDLESID | TEFYNSLIWI | RDNNIEECGL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EMYFSVDMEI | LGKVTSHDLK | LGGSNILVTE | ENKDEYIGLM | TEWRFSRGVQ | EQTKAFLDGF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NEVVPLQWLQ | YFDEKELEVM | LCGMQEVDLA | DWQRNTVYRH | YTRNSKQIIW | FWQFVKETDN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EVRMRLLQFV | TGTCRLPLGG | FAELMGSNGP | QKFCIEKVGK | DTWLPRSHTC | FNRLDLPPYK |
| 910 | 920 | ||||
| SYEQLKEKLL | FAIEETEGFG | QE |