Q8WUY9
PR
Gene name |
DEPDC1B (XTP8) |
Protein name |
DEP domain-containing protein 1B |
Names |
HBV X-transactivated gene 8 protein, HBV XAg-transactivated protein 8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55789 |
EC number |
|
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
1 structures for Q8WUY9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8WUY9-F1 | Predicted | AlphaFoldDB |
442 variants for Q8WUY9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs866786059 CA118786818 |
2 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA118786821 rs1023775639 |
2 | E>K | No |
ClinGen gnomAD |
|
|
rs1431983853 CA359820947 |
3 | H>Y | No |
ClinGen TOPMed |
|
|
rs562961386 CA3277257 |
4 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3277258 rs562961386 |
4 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1336259504 CA359820938 |
4 | R>L | No |
ClinGen gnomAD |
|
|
rs750003543 CA3277255 |
5 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1043702319 CA118786768 |
5 | I>V | No |
ClinGen TOPMed |
|
|
rs767068710 CA3277254 |
6 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1025739702 CA118786740 |
8 | P>R | No |
ClinGen gnomAD |
|
|
rs1171154650 CA359820916 |
9 | G>R | No |
ClinGen gnomAD |
|
|
CA359820914 rs1171154650 |
9 | G>W | No |
ClinGen gnomAD |
|
|
CA359820907 rs753001386 |
10 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3277252 rs753001386 |
10 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866326890 CA118786732 |
10 | P>T | No |
ClinGen Ensembl |
|
|
rs1401747326 CA359820895 |
12 | R>P | No |
ClinGen TOPMed |
|
|
rs867355448 CA118786726 |
15 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs867355448 CA118786722 |
15 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1437214855 CA359820873 |
16 | L>M | No |
ClinGen gnomAD |
|
|
CA359820867 rs1244428133 |
16 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3277233 rs756852513 |
18 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA359820186 rs1257595150 |
18 | N>K | No |
ClinGen gnomAD |
|
|
rs751242399 CA3277232 |
19 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1314228432 CA359820181 |
19 | E>V | No |
ClinGen gnomAD |
|
|
CA3277231 rs763787134 |
20 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA3277229 rs754296817 |
21 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3277228 rs150157179 |
23 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761263099 CA3277227 |
24 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA359820153 rs988631531 |
24 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA118779013 rs988631531 |
24 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3277226 rs773120290 |
25 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141738735 CA3277225 |
25 | R>H | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1175058614 CA359820140 |
26 | A>V | No |
ClinGen gnomAD |
|
|
rs1023802890 CA118778996 CA359820126 |
28 | M>I | No |
ClinGen TOPMed |
|
|
rs905472717 CA118779004 |
28 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs199800173 CA3277222 |
29 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199800173 CA3277221 |
29 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774689755 CA3277223 |
29 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA359820118 rs1236041696 |
30 | L>S | No |
ClinGen TOPMed |
|
|
rs148021233 CA3277216 |
31 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780638515 CA3277217 |
31 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA118778955 rs763254637 |
33 | H>R | No |
ClinGen Ensembl |
|
|
CA3277215 rs531674599 COSM379353 |
34 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1069207 CA3277213 rs143548430 |
34 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3277214 rs143548430 |
34 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359820094 rs143548430 |
34 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1695811 rs202011984 CA3277212 |
36 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs202011984 CA359820085 |
36 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148191375 CA3277211 |
36 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148191375 CA359820082 |
36 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1017718977 CA118778920 |
38 | K>N | No |
ClinGen Ensembl |
|
|
rs1306416952 CA359820065 |
39 | S>G | No |
ClinGen gnomAD |
|
|
CA3277210 rs756541606 |
40 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs376066159 CA3277209 |
41 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 42 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3277208 rs768184439 |
42 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1436328660 CA359820036 |
43 | C>R | No |
ClinGen TOPMed |
|
|
rs761969318 CA3277207 |
46 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419020496 CA359820005 |
47 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA118778907 rs200537740 |
48 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200537740 CA3277202 |
48 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA118778903 rs866059629 COSM738439 |
50 | V>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA359819986 rs1257076557 |
51 | D>H | No |
ClinGen gnomAD |
|
|
rs1277087813 CA359819982 |
51 | D>V | No |
ClinGen TOPMed |
|
|
rs1314519214 CA359819973 |
52 | W>C | No |
ClinGen TOPMed |
|
|
CA359819967 rs1212034925 |
53 | L>P | No |
ClinGen TOPMed |
|
|
rs1584103875 CA359819964 |
54 | H>D | No |
ClinGen Ensembl |
|
|
CA3277200 rs373131717 |
54 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359819958 rs1265788058 |
55 | E>* | No |
ClinGen gnomAD |
|
|
CA3277199 rs770923794 |
55 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3277197 rs777278688 |
56 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1246298658 CA359819941 |
58 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1584103831 CA359819933 |
59 | C>G | No |
ClinGen Ensembl |
|
|
CA3277196 rs771578507 |
59 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1584103812 CA359819921 |
60 | S>R | No |
ClinGen Ensembl |
|
|
CA359819916 rs1584103803 |
61 | Q>P | No |
ClinGen Ensembl |
|
|
rs747869194 CA118778857 |
63 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3277194 rs778473127 |
64 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1298555903 CA359819879 |
66 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 68 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399220919 CA359819864 |
69 | R>C | No |
ClinGen gnomAD |
|
|
CA3277192 rs750871821 |
69 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781762834 CA3277191 |
72 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA3277189 rs751628734 |
73 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 74 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359819827 rs1164251249 |
75 | L>M | No |
ClinGen gnomAD |
|
|
rs112757349 CA118778830 |
76 | L>P | No |
ClinGen Ensembl |
|
|
CA359819814 rs1426107072 |
77 | K>R | No |
ClinGen gnomAD |
|
|
rs956802181 CA118778825 |
78 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 79 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194774671 CA359819781 |
82 | N>D | No |
ClinGen gnomAD |
|
|
CA359819769 rs1488184125 |
83 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs765425369 CA3277184 |
84 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA359819717 rs1264348702 |
88 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA118778793 rs200213783 |
89 | K>R | No |
ClinGen 1000Genomes |
|
|
CA118778790 rs201186861 |
90 | G>E | No |
ClinGen Ensembl |
|
|
CA3277181 rs766247215 |
90 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs760631424 CA3277180 |
91 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772672633 CA3277179 |
92 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs770720730 CA3277178 |
93 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359819638 rs1561393289 |
93 | G>V | No |
ClinGen Ensembl |
|
|
rs143103554 CA3277176 |
95 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359819566 rs1415878472 |
97 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs545366979 CA3277175 |
98 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA118778723 rs1009494861 |
98 | E>Q | No |
ClinGen Ensembl |
|
|
CA3277174 rs746163885 |
99 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359819537 rs746163885 |
99 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781697609 CA3277173 |
100 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA3277172 rs757789085 |
100 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1171653619 CA359819509 |
101 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs747550036 CA3277171 |
101 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1371690127 CA359819488 |
102 | H>Q | No |
ClinGen gnomAD |
|
|
CA3277170 rs778181079 |
102 | H>R | No |
ClinGen ExAC |
|
|
CA359819448 rs1561393234 |
105 | R>G | No |
ClinGen Ensembl |
|
|
rs766639905 CA3277146 |
108 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs373354188 CA119517722 |
108 | P>L | No |
ClinGen Ensembl |
|
|
CA359938557 rs1281260441 |
109 | S>P | No |
ClinGen gnomAD |
|
|
CA119517719 rs891561423 |
110 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs755892411 CA3277145 |
111 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs201094770 CA3277144 |
112 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA119517715 rs913884511 |
112 | L>R | No |
ClinGen TOPMed |
|
|
rs1396911057 CA359938524 |
115 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 117 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767419747 CA3277143 |
118 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA359938494 rs1172230220 |
119 | P>S | No |
ClinGen gnomAD |
|
|
CA3277142 rs761664638 |
120 | P>L | No |
ClinGen ExAC gnomAD |
|
| rs745872443 | 121 | N>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA119517706 rs992450010 |
122 | Q>K | No |
ClinGen TOPMed |
|
|
rs751028330 CA3277140 |
123 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359938454 rs1238779062 |
125 | V>I | No |
ClinGen gnomAD |
|
|
CA359938443 rs1561374176 |
126 | I>S | No |
ClinGen Ensembl |
|
| TCGA novel | 129 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584062277 CA359938409 |
131 | W>* | No |
ClinGen Ensembl |
|
|
rs762592263 CA3277138 |
131 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA3277139 rs201176651 |
131 | W>R | No |
ClinGen 1000Genomes ExAC |
|
|
CA3277137 rs549736264 |
132 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3277136 rs769627242 |
132 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA119517699 rs549736264 |
132 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761055797 CA3277135 |
134 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs141932803 CA3277133 |
135 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359938378 rs1223256126 |
136 | P>Q | No |
ClinGen gnomAD |
|
|
rs948306797 CA119517689 |
136 | P>S | No |
ClinGen Ensembl |
|
|
CA3277131 rs779518108 |
139 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311415862 CA359938345 |
141 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768703284 CA3277130 |
141 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402263707 CA359938338 |
142 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1355468805 CA359938335 |
143 | I>V | No |
ClinGen TOPMed |
|
|
rs931360934 CA119517682 |
144 | P>S | No |
ClinGen gnomAD |
|
|
CA3277128 rs780254056 |
145 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1415314330 CA359938319 |
146 | R>G | No |
ClinGen gnomAD |
|
|
rs756329731 CA3277127 |
148 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA359938301 rs1300621978 |
149 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA3277126 rs150987461 |
150 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA119517225 rs889994089 |
152 | S>T | No |
ClinGen TOPMed |
|
|
rs752206726 CA3277102 |
152 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs764873483 CA3277101 |
154 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748199885 CA119517220 |
154 | M>T | No |
ClinGen Ensembl |
|
|
CA3277099 rs753413337 |
158 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766115400 CA3277098 |
158 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359938210 rs1180221462 |
160 | S>G | No |
ClinGen gnomAD |
|
|
rs774706594 CA3277096 |
160 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA119517211 rs374925124 |
163 | I>T | No |
ClinGen Ensembl |
|
|
rs376325230 CA3277095 |
163 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359938176 rs1425696972 |
165 | E>A | No |
ClinGen gnomAD |
|
|
rs775506184 CA3277093 |
166 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA3277094 rs763468831 |
166 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763468831 CA359938172 |
166 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs544616070 CA119517205 |
167 | P>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs769830317 CA3277092 |
167 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3277091 rs746007077 |
169 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA119517198 rs940459360 |
170 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3277090 rs575738459 |
170 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1188678958 CA359938146 |
171 | L>V | No |
ClinGen TOPMed |
|
|
rs746713813 CA3277088 |
172 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3277086 rs758371557 |
173 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA359938127 rs1346429820 |
174 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs374381184 CA3277084 |
174 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374381184 CA3277085 |
174 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753458906 CA3277082 |
175 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370040377 CA3277081 |
175 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA119517183 rs879799356 |
180 | A>T | No |
ClinGen Ensembl |
|
|
CA359938085 rs1451478293 |
181 | N>S | No |
ClinGen TOPMed |
|
|
CA3277080 rs755800383 |
181 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3277077 rs763344739 |
182 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764470539 CA3277078 |
182 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs555881564 CA3277076 |
183 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1440433500 CA359938069 |
184 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA359938057 rs1300865531 |
185 | I>M | No |
ClinGen TOPMed |
|
|
CA119517174 rs1046382659 |
185 | I>T | No |
ClinGen TOPMed |
|
|
rs1439874096 CA359938061 |
185 | I>V | No |
ClinGen TOPMed |
|
|
CA3277075 rs765828291 |
186 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA359938009 rs1321688815 |
192 | S>L | No |
ClinGen gnomAD |
|
|
CA3277057 rs753947164 |
193 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA3277055 rs760102134 |
195 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs760102134 CA359937981 |
195 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs753822246 CA3277054 |
198 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs760889560 CA3277052 |
202 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA119516996 rs757931727 |
204 | E>D | No |
ClinGen Ensembl |
|
|
CA359937884 rs1157393914 |
209 | V>A | No |
ClinGen TOPMed |
|
|
rs112568063 CA3277049 COSM328169 |
209 | V>I | pancreas large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1316381180 CA359937872 |
211 | L>V | No |
ClinGen Ensembl |
|
|
rs201451342 CA3277048 COSM1069203 |
214 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA119516987 rs575737262 |
215 | K>R | No |
ClinGen gnomAD |
|
|
CA3277045 rs749274404 |
218 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3277044 rs779893453 |
219 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3277043 rs769269437 |
220 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA119516979 rs894791935 |
220 | N>S | No |
ClinGen TOPMed |
|
|
CA559966664 rs1561372482 |
222 | Y>* | No |
ClinGen Ensembl |
|
|
CA3277041 rs780816165 |
223 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 223 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277755828 CA359937769 |
226 | K>R | No |
ClinGen TOPMed |
|
|
rs368367512 CA119516972 |
228 | G>R | No |
ClinGen Ensembl |
|
|
CA3277038 rs753001310 |
232 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1228800004 CA359937730 |
232 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 232 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359937721 rs1303363915 |
233 | D>E | No |
ClinGen gnomAD |
|
|
rs779367812 CA3277037 |
234 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388529892 CA359937720 |
234 | D>N | No |
ClinGen gnomAD |
|
|
CA119516966 rs946230518 |
235 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 238 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs939126748 CA119516562 |
240 | P>S | No |
ClinGen gnomAD |
|
|
rs1162249224 CA359937643 |
243 | V>M | No |
ClinGen TOPMed |
|
|
CA359937627 rs1307200128 |
245 | S>L | No |
ClinGen gnomAD |
|
|
rs771545767 CA119516554 |
247 | M>I | No |
ClinGen Ensembl |
|
|
rs199716657 CA3277021 |
247 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs908318758 CA119516552 |
250 | L>M | No |
ClinGen TOPMed |
|
|
CA3277020 rs746642849 |
251 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA359937591 rs1394769580 |
251 | A>S | No |
ClinGen gnomAD |
|
|
CA3277005 rs767918174 |
252 | N>* | No |
ClinGen ExAC |
|
|
CA359937582 rs1435852533 |
252 | N>S | No |
ClinGen gnomAD |
|
|
CA119515691 rs776591200 |
253 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA3277004 rs776591200 |
253 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1447581156 CA359937550 |
255 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1447581156 CA359937551 |
255 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA119515687 rs371478415 |
256 | C>R | No |
ClinGen Ensembl |
|
|
rs746560300 CA3277002 |
256 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA359937522 rs1295384693 |
259 | L>F | No |
ClinGen gnomAD |
|
|
rs780591901 CA3276998 |
262 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780591901 CA359937502 |
262 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3276996 rs374813881 |
263 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756653073 CA3276997 |
263 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1180593314 CA812711666 |
264 | Y>* | No |
ClinGen TOPMed |
|
|
CA3276995 rs781775948 |
266 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 266 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 266 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359937441 rs1170052487 |
270 | D>E | No |
ClinGen TOPMed |
|
|
rs1392348811 CA359937439 |
271 | V>I | No |
ClinGen gnomAD |
|
|
rs1005697131 CA119515674 |
274 | T>I | No |
ClinGen TOPMed |
|
|
rs1460648454 CA359937410 |
275 | I>T | No |
ClinGen gnomAD |
|
|
rs751654885 CA3276992 |
275 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359937405 rs1415389665 |
276 | A>P | No |
ClinGen gnomAD |
|
|
CA359937385 rs1195629865 |
278 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs764307976 CA3276991 |
279 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs758560757 CA3276990 |
284 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1584053204 CA359937335 |
286 | L>V | No |
ClinGen Ensembl |
|
|
CA359937307 rs1228632627 |
290 | H>R | No |
ClinGen TOPMed |
|
|
rs1363221550 CA359937298 |
291 | L>P | No |
ClinGen gnomAD |
|
|
CA359937295 rs1270132014 |
292 | F>L | No |
ClinGen gnomAD |
|
|
CA3276986 rs776537987 |
292 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs766371871 CA359937277 |
294 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs766371871 CA3276985 |
294 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3276984 rs146323592 |
295 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1315619816 CA359937242 |
300 | G>C | No |
ClinGen TOPMed |
|
|
CA359935281 rs1174293414 |
300 | G>V | No |
ClinGen gnomAD |
|
|
rs760555078 CA3276963 |
301 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 304 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359935236 rs1356333285 |
306 | K>N | No |
ClinGen TOPMed |
|
|
CA3276962 rs749911709 |
307 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA3276961 rs79974480 |
309 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3276960 rs79974480 |
309 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs774131098 CA3276959 |
317 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs759910752 CA3276957 |
320 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA359935145 rs1298710067 |
321 | P>A | No |
ClinGen TOPMed |
|
|
rs1209450533 CA359935128 |
323 | N>S | No |
ClinGen gnomAD |
|
|
rs777146759 CA3276956 |
324 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 324 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3276955 rs771419300 |
328 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs17856590 CA119507328 VAR_031819 |
332 | R>M | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1584021586 CA359935051 |
334 | M>L | No |
ClinGen Ensembl |
|
|
rs143609224 CA119507322 |
337 | I>N | No |
ClinGen ESP |
|
| TCGA novel | 338 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747500676 CA3276953 |
341 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs374146430 CA3276952 |
342 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1416421724 CA359934994 |
342 | E>Q | No |
ClinGen gnomAD |
|
|
rs1364415570 CA359934988 |
343 | M>L | No |
ClinGen gnomAD |
|
|
CA359934974 rs1318406844 |
344 | P>L | No |
ClinGen gnomAD |
|
|
CA359934977 rs1432847616 |
344 | P>S | No |
ClinGen gnomAD |
|
|
rs1161425274 CA359934970 |
345 | P>H | No |
ClinGen gnomAD |
|
|
rs1161425274 CA359934968 |
345 | P>L | No |
ClinGen gnomAD |
|
|
CA3276949 rs371233799 |
347 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1476394732 CA359934941 |
350 | F>I | No |
ClinGen gnomAD |
|
|
CA3276946 rs779748238 |
353 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359934908 rs1204530414 |
355 | L>P | No |
ClinGen TOPMed |
|
|
CA3276925 rs780927695 |
356 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1169087938 CA359939752 |
357 | V>I | No |
ClinGen TOPMed |
|
|
CA359939745 rs1361347307 |
358 | Q>E | No |
ClinGen gnomAD |
|
|
CA359939734 rs1395516195 |
359 | T>I | No |
ClinGen gnomAD |
|
|
CA3276923 rs751066440 |
359 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs199607798 CA3276920 |
361 | S>F | Variant assessed as Somatic; 9.522e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs140019112 CA3276918 |
362 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140019112 CA3276919 |
362 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760880988 CA3276917 |
362 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760880988 CA359939718 |
362 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359939714 rs773638129 |
363 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA3276916 rs773638129 |
363 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1195010635 CA359939703 |
365 | L>V | No |
ClinGen gnomAD |
|
|
rs1317915545 CA359939669 |
369 | D>V | No |
ClinGen TOPMed |
|
|
rs201218269 CA3276915 |
371 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359939633 rs1274740729 |
374 | D>E | No |
ClinGen TOPMed |
|
|
rs762336417 CA119506717 |
374 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3276914 rs762336417 |
374 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA119506712 rs925435811 |
376 | L>S | No |
ClinGen TOPMed |
|
|
CA359939613 rs1279677231 |
377 | L>F | No |
ClinGen TOPMed |
|
|
rs749423865 CA3276911 |
377 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs775574879 CA3276910 |
378 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA359939601 rs1316552652 |
380 | R>G | No |
ClinGen TOPMed |
|
|
rs966903122 CA119506702 |
381 | L>S | No |
ClinGen TOPMed |
|
|
CA359939577 rs1236623058 |
383 | T>M | No |
ClinGen gnomAD |
|
|
CA359939559 rs1325489787 |
386 | M>T | No |
ClinGen gnomAD |
|
|
CA359939562 rs1189142916 |
386 | M>V | No |
ClinGen TOPMed |
|
|
rs1385364831 CA359939545 |
388 | N>D | No |
ClinGen gnomAD |
|
|
CA359939542 rs1399074493 |
388 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs757222718 CA3276906 |
389 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359939520 rs1174928981 |
391 | E>A | No |
ClinGen gnomAD |
|
|
CA3276904 rs554510821 |
392 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA119506696 VAR_031820 rs17851707 |
395 | V>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA119506693 rs373301969 |
396 | P>R | No |
ClinGen ESP TOPMed |
|
|
rs1420577324 CA359939457 |
401 | T>A | No |
ClinGen gnomAD |
|
|
rs1035026050 CA119506691 |
401 | T>N | No |
ClinGen gnomAD |
|
|
rs1400359849 CA359939451 |
402 | S>A | No |
ClinGen gnomAD |
|
|
COSM592968 CA3276903 rs757977144 |
402 | S>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs752255097 CA3276902 |
403 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs780786865 CA119506690 |
403 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 405 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359939432 rs1348665207 |
405 | E>A | No |
ClinGen gnomAD |
|
|
CA3276901 rs371169530 |
405 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359939434 rs1435736279 |
405 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs377727476 CA3276899 |
406 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377727476 CA3276900 |
406 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754576713 CA3276898 |
406 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359939419 rs1391209685 |
408 | A>T | No |
ClinGen gnomAD |
|
|
rs752044778 CA3276896 |
409 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3276895 rs764656419 |
411 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1470948269 CA359939392 |
412 | R>S | No |
ClinGen gnomAD |
|
|
CA3276892 rs769862356 |
412 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1180733431 CA359939383 |
414 | Q>* | No |
ClinGen gnomAD |
|
|
rs759584282 CA3276871 |
415 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA359939364 rs373312980 |
415 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759584282 CA359939362 |
415 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3276872 rs373312980 |
415 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776980940 CA3276870 |
416 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1356177127 CA359939325 |
421 | D>Y | No |
ClinGen gnomAD |
|
|
rs1282969888 CA359939315 |
422 | M>T | No |
ClinGen gnomAD |
|
|
CA3276868 rs369344524 |
423 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1333348250 CA359939275 |
428 | A>D | No |
ClinGen TOPMed |
|
|
rs773162422 CA3276867 |
428 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs771862418 CA3276866 |
429 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs748084286 CA3276865 |
433 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150780889 CA3276864 |
433 | R>H | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA359939238 rs1244172330 |
434 | Q>P | No |
ClinGen gnomAD |
|
|
CA3276863 rs768195193 |
436 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359939226 rs768195193 |
436 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA119505789 rs932717331 |
437 | P>L | No |
ClinGen Ensembl |
|
|
CA359939219 rs1169556536 |
437 | P>S | No |
ClinGen gnomAD |
|
|
CA3276861 rs138746710 |
438 | E>Q | No |
ClinGen ESP ExAC |
|
|
rs755781117 CA3276860 |
439 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1584015895 CA359939193 |
440 | F>L | No |
ClinGen Ensembl |
|
|
rs1279127646 CA359939179 |
442 | Y>* | No |
ClinGen Ensembl |
|
|
rs145828177 CA119505783 |
442 | Y>C | No |
ClinGen ESP TOPMed |
|
|
rs751874931 CA3276859 |
443 | Q>* | No |
ClinGen ExAC |
|
|
CA119505778 rs141961736 |
444 | R>I | No |
ClinGen ESP |
|
|
rs778143900 CA3276858 |
445 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3276857 rs758731873 |
446 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 447 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 449 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359939129 rs1288222282 |
450 | E>G | No |
ClinGen gnomAD |
|
|
rs1208123259 CA359939124 |
451 | P>T | No |
ClinGen TOPMed |
|
|
CA119505774 rs977529174 |
452 | L>V | No |
ClinGen Ensembl |
|
|
CA3276856 rs753227665 |
454 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs753227665 CA359939104 |
454 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA119505767 rs765722473 |
456 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1296155220 CA359939085 |
457 | E>A | No |
ClinGen gnomAD |
|
|
CA3276854 rs201451876 |
458 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753980406 CA119505764 |
459 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753980406 CA3276853 |
459 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761008622 CA3276851 |
463 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA119505756 rs992879170 |
466 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 466 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330721545 CA359939029 |
466 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 467 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3276850 rs202176107 |
468 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3276848 rs761568348 |
469 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs767319649 CA359939010 |
469 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767319649 CA3276849 |
469 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA359939003 rs1397024245 |
470 | K>E | No |
ClinGen gnomAD |
|
|
rs1194476477 CA359938997 |
470 | K>N | No |
ClinGen gnomAD |
|
|
rs1034788086 CA119505748 |
471 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 471 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584015767 CA359938975 |
473 | K>N | No |
ClinGen Ensembl |
|
|
rs1477863123 CA359938977 |
473 | K>R | No |
ClinGen gnomAD |
|
|
rs756307854 CA3276829 |
477 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA359938929 rs1584014973 |
478 | Q>R | No |
ClinGen Ensembl |
|
|
rs961493430 CA119505481 |
480 | S>P | No |
ClinGen TOPMed |
|
|
CA359938894 rs1423332765 |
483 | E>G | No |
ClinGen gnomAD |
|
|
CA359938868 rs1351788368 |
487 | E>K | No |
ClinGen TOPMed |
|
|
CA3276828 rs750658887 |
488 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375582832 CA3276827 |
488 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375582832 CA3276826 |
488 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3276824 rs372551359 |
492 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774034083 CA359938837 |
492 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774034083 CA3276825 |
492 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3276823 rs762912245 |
493 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3276822 rs563776701 |
494 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3276821 rs369283471 |
495 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359938816 rs1349622608 |
495 | A>V | No |
ClinGen gnomAD |
|
|
CA359938808 rs1416533525 |
497 | L>V | No |
ClinGen gnomAD |
|
|
CA3276819 rs776342890 |
498 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs770495076 CA3276818 |
499 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1357595117 CA359938777 |
502 | K>E | No |
ClinGen gnomAD |
|
|
rs1584014849 CA359938772 |
502 | K>N | No |
ClinGen Ensembl |
|
|
rs748495095 CA3276817 |
503 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 504 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584014843 CA359938759 |
504 | K>N | No |
ClinGen Ensembl |
|
|
rs755431500 CA3276815 |
505 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3276816 rs755431500 |
505 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359938755 rs1401542660 |
505 | P>S | No |
ClinGen gnomAD |
|
|
CA3276813 rs780761454 |
507 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180729395 CA359938740 |
508 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1180729395 CA359938739 |
508 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3276812 rs147993338 |
510 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3276810 rs781414143 |
512 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs750530507 CA3276811 |
512 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA359938695 rs1442196667 |
515 | K>E | No |
ClinGen TOPMed |
|
|
CA3276808 rs751333107 |
515 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA359938680 rs1335353003 |
517 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1335353003 CA359938681 |
517 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs974694045 CA119505443 |
525 | R>G | No |
ClinGen gnomAD |
|
|
CA119505441 rs575323127 COSM1069197 |
528 | R>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA3276806 rs752619351 |
528 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359938601 rs752619351 |
528 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752619351 COSM1069196 CA3276805 |
528 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA359938585 rs1290778363 |
530 | M>Y | No |
ClinGen gnomAD |
No associated diseases with Q8WUY9
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
| 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. |
| positive regulation of Wnt signaling pathway | Any process that activates or increases the frequency, rate or extent of Wnt signal transduction. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5ZLD2 | DEPDC1B | DEP domain-containing protein 1B | Gallus gallus (Chicken) | PR |
| Q8N2C3 | DEPDC4 | DEP domain-containing protein 4 | Homo sapiens (Human) | PR |
| Q5TB30 | DEPDC1 | DEP domain-containing protein 1A | Homo sapiens (Human) | PR |
| Q8BH88 | Depdc1b | DEP domain-containing protein 1B | Mus musculus (Mouse) | PR |
| Q21341 | let-99 | Protein let-99 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEHRIVGPGP | YRATRLWNET | VELFRAKMPL | RKHRCRFKSY | EHCFTAAEAV | DWLHELLRCS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QNFGPEVTRK | QTVQLLKKFL | KNHVIEDIKG | KWGEEDFEDN | RHLYRFPPSS | PLKPYPKKPP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NQKDVIKFPE | WNDLPPGTSQ | ENIPVRPVVM | NSEMWYKRHS | IAIGEVPACR | LVHRRQLTEA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NVEEIWKSMT | LSYLQKILGL | DSLEEVLDVK | LVNSKFIIHN | VYSVSKQGVV | ILDDKSKELP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HWVLSAMKCL | ANWPNCSDLK | QPMYLGFEKD | VFKTIADYYG | HLKEPLLTFH | LFDAFVSVLG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLQKEKVAVE | AFQICCLLLP | PENRRKLQLL | MRMMARICLN | KEMPPLCDGF | GTRTLMVQTF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SRCILCSKDE | VDLDELLAAR | LVTFLMDNYQ | EILKVPLALQ | TSIEERVAHL | RRVQIKYPGA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DMDITLSAPS | FCRQISPEEF | EYQRSYGSQE | PLAALLEEVI | TDAKLSNKEK | KKKLKQFQKS |
| 490 | 500 | 510 | 520 | ||
| YPEVYQERFP | TPESAALLFP | EKPKPKPQLL | MWALKKPFQP | FQRTRSFRM |