O95905
Gene name |
ECD |
Protein name |
Protein ecdysoneless homolog |
Names |
Human suppressor of GCR two, hSGT1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11319 |
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 O95905
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O95905-F1 | Predicted | AlphaFoldDB |
499 variants for O95905
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs776894881 CA5552778 |
3 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5552777 rs575263484 |
4 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761027313 CA5552776 |
5 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs146593359 CA5552774 |
9 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5552772 rs34275727 |
9 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5552773 rs34275727 |
9 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377188297 rs1164457280 |
13 | T>A | No |
ClinGen gnomAD |
|
|
rs1040963443 CA209594698 |
14 | V>L | No |
ClinGen TOPMed |
|
|
CA377188285 rs1182566105 |
15 | E>* | No |
ClinGen gnomAD |
|
|
CA5552769 rs747934699 |
16 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA5552767 rs188586367 |
17 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA209594685 rs929561547 |
21 | I>L | No |
ClinGen Ensembl |
|
|
rs779531702 CA5552765 |
21 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs757869937 CA5552764 |
22 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA377188231 rs1174214823 |
23 | D>E | No |
ClinGen gnomAD |
|
|
CA377188218 rs1312782247 |
25 | S>L | No |
ClinGen gnomAD |
|
|
rs774499265 CA209594673 |
26 | R>G | No |
ClinGen Ensembl |
|
|
CA5552763 rs553296711 |
27 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377188207 rs1222736700 |
27 | D>Y | No |
ClinGen gnomAD |
|
|
CA5552761 rs757730379 |
31 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1265414899 CA377188178 |
31 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1325694501 CA377188163 |
33 | E>G | No |
ClinGen gnomAD |
|
|
rs754234290 CA377188165 |
33 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5552760 rs754234290 |
33 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209594628 rs146885350 |
35 | L>V | No |
ClinGen ESP TOPMed |
|
|
CA209594624 rs918149383 |
36 | Q>R | No |
ClinGen Ensembl |
|
|
CA377188123 rs775910776 |
39 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA5552756 rs143567114 |
39 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5552757 rs775910776 |
39 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 40 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs534986528 CA209594598 |
40 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA377188108 rs1180417497 |
41 | R>K | No |
ClinGen gnomAD |
|
|
rs1234801117 CA377188093 |
43 | I>T | No |
ClinGen gnomAD |
|
|
CA377188089 rs1440313828 |
44 | T>A | No |
ClinGen gnomAD |
|
|
rs1244143625 CA377188086 |
44 | T>S | No |
ClinGen TOPMed |
|
|
rs3812619 VAR_051970 CA5552754 |
45 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5552755 rs111606598 |
45 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748081084 CA5552752 |
49 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 51 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA209594579 rs1047692688 |
52 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA377188040 rs1251394681 |
52 | P>S | No |
ClinGen TOPMed |
|
|
CA209594574 rs776376702 |
54 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5552751 rs776376702 |
54 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768502855 CA5552750 |
57 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs746823344 CA377187991 |
59 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746823344 CA5552749 |
59 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5552748 rs779617442 |
61 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs368849857 CA377187960 |
63 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs920649752 CA209594550 |
64 | Y>C | No |
ClinGen TOPMed |
|
|
CA5552746 rs748126351 |
66 | P>* | No |
ClinGen ExAC gnomAD |
|
|
CA377187938 rs1353591394 |
66 | P>L | No |
ClinGen TOPMed |
|
|
CA5552745 rs183966081 |
67 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199657729 CA5552744 |
69 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377187902 rs1476608157 |
70 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 73 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193674546 CA377187881 |
74 | H>Y | No |
ClinGen gnomAD |
|
|
CA5552722 rs150022527 |
78 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150022527 COSM920254 CA5552723 |
78 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374987103 CA5552721 |
80 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 80 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5552720 rs139306977 |
82 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751792179 CA5552719 |
83 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766465445 CA5552718 |
85 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA5552717 rs762957194 |
85 | I>M | No |
ClinGen ExAC |
|
|
rs1431878411 CA377187804 |
85 | I>T | No |
ClinGen TOPMed |
|
|
rs766465445 CA377187806 |
85 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1175521459 CA377187802 |
86 | E>K | No |
ClinGen gnomAD |
|
|
rs1280348759 CA377187784 |
88 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA5552716 rs549500447 |
88 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs549500447 CA5552715 |
88 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1280348759 CA377187786 |
88 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 89 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377187767 rs1332314207 |
90 | F>C | No |
ClinGen gnomAD |
|
|
CA5552714 rs371506578 |
90 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1404860135 CA377187747 |
93 | Y>C | No |
ClinGen Ensembl |
|
|
CA377187751 rs1397691009 |
93 | Y>N | No |
ClinGen gnomAD |
|
|
CA377187743 COSM84016 rs1160056261 |
94 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs771829736 CA5552712 |
95 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs769978020 CA209593141 |
95 | I>V | No |
ClinGen Ensembl |
|
|
COSM920253 CA5552710 rs773819452 |
103 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA377187671 rs1170936092 |
104 | E>A | No |
ClinGen gnomAD |
|
|
rs1425257492 CA377187674 |
104 | E>K | No |
ClinGen gnomAD |
|
|
CA377187652 rs1474714955 |
107 | A>P | No |
ClinGen gnomAD |
|
|
rs1589121844 CA377187644 |
108 | R>K | No |
ClinGen Ensembl |
|
|
rs1444549171 CA377187625 |
109 | I>F | No |
ClinGen gnomAD |
|
|
rs1316997294 CA377187622 |
109 | I>T | No |
ClinGen gnomAD |
|
|
rs138942541 CA5552696 |
111 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1226238109 CA377187601 |
112 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756041378 CA5552695 |
114 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752634743 CA5552694 |
115 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA377187571 rs767505500 |
116 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs866084814 CA209591988 |
117 | L>F | No |
ClinGen Ensembl |
|
|
rs759189038 CA5552691 |
119 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774231556 CA5552690 |
121 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1240386078 CA377187533 |
122 | A>G | No |
ClinGen gnomAD |
|
|
rs766079576 CA5552689 |
122 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs766079576 CA377187537 |
122 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5552686 rs769492013 |
126 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5552685 rs371218919 |
127 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5552684 rs776943705 |
129 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA377187480 rs1260288847 |
130 | D>V | No |
ClinGen gnomAD |
|
|
rs769239602 CA5552683 |
131 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs747290156 CA5552682 |
132 | E>G | No |
ClinGen ExAC |
|
|
rs866299721 CA209591976 |
134 | S>G | No |
ClinGen Ensembl |
|
|
CA377187437 rs1309656033 |
136 | N>K | No |
ClinGen gnomAD |
|
|
CA377187440 rs1379091633 |
136 | N>S | No |
ClinGen gnomAD |
|
|
CA377187416 rs1295768734 |
138 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 140 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5552664 rs567687425 |
142 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1299329280 CA377187380 |
143 | G>R | No |
ClinGen gnomAD |
|
|
rs1044656324 CA209591948 |
146 | C>* | No |
ClinGen TOPMed |
|
|
CA377187355 rs1423468225 |
146 | C>Y | No |
ClinGen gnomAD |
|
|
CA209591943 rs1035301762 |
150 | A>T | No |
ClinGen Ensembl |
|
|
CA377187327 rs1274713136 |
151 | P>S | No |
ClinGen TOPMed |
|
|
CA5552659 rs147438502 |
154 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141141485 CA209591938 |
157 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs754839251 CA5552656 |
159 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA5552657 rs777956764 |
159 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs751610383 CA5552655 |
161 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs779978226 CA5552654 |
162 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA5552653 rs373650322 |
163 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1220150606 CA377187238 |
165 | P>R | No |
ClinGen gnomAD |
|
|
rs1326692342 CA377187234 |
166 | T>A | No |
ClinGen TOPMed |
|
|
CA377187224 rs1207672110 |
167 | I>S | No |
ClinGen TOPMed |
|
|
CA377187215 rs1340593798 |
169 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377187203 rs1301797477 |
170 | A>V | No |
ClinGen gnomAD |
|
|
rs750245964 CA5552651 |
171 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA5552650 rs764936819 |
171 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA209591926 rs750245964 |
171 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs373804811 CA5552649 |
172 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 172 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253421590 CA377187195 |
172 | N>S | No |
ClinGen TOPMed |
|
|
CA5552648 rs563682731 |
173 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377187190 rs1415412404 |
173 | I>V | No |
ClinGen gnomAD |
|
|
CA5552646 rs761073742 |
175 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 176 | A>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1246120883 CA377187172 |
176 | A>T | No |
ClinGen TOPMed |
|
|
rs1424395206 CA377187163 |
177 | H>R | No |
ClinGen gnomAD |
|
|
rs1181372011 CA377187152 |
179 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 179 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 180 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5552645 rs775919239 |
181 | I>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772574196 CA5552643 |
184 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs148204269 CA5552642 |
187 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771034766 CA5552640 |
188 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5552639 rs749563650 |
188 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5552638 rs769970350 |
189 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs769970350 CA5552637 |
189 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5552636 rs370474802 |
190 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1377540847 CA377187082 |
191 | V>M | No |
ClinGen gnomAD |
|
|
rs34251877 CA5552633 |
192 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34251877 CA377187076 |
192 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5552634 rs34251877 |
192 | N>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5552632 rs746192250 |
194 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149473721 CA5552631 |
194 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs746192250 CA377187063 |
194 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5552630 rs753588697 |
195 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA377187056 rs1311685928 |
195 | I>T | No |
ClinGen gnomAD |
|
|
rs377467640 CA5552629 |
197 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766809987 CA5552603 |
199 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA377187013 rs1489284479 |
200 | E>G | No |
ClinGen gnomAD |
|
|
CA377187016 rs1189099383 |
200 | E>Q | No |
ClinGen gnomAD |
|
|
rs369569544 CA5552602 |
201 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 202 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs137944633 CA5552601 |
204 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1451948944 CA377186985 |
204 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1246711495 CA377186976 |
206 | L>F | No |
ClinGen gnomAD |
|
|
rs1481496333 CA377186971 |
206 | L>R | No |
ClinGen TOPMed |
|
|
CA377186966 rs1284519913 |
207 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA209591446 rs1003977371 |
208 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1003977371 CA209591448 |
208 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA377186961 rs776043538 |
208 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA5552600 rs776043538 |
208 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1301063460 CA377186950 |
210 | H>R | No |
ClinGen gnomAD |
|
|
rs776848178 CA5552598 |
211 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5552599 rs776848178 |
211 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370029281 CA377186945 |
211 | C>Y | No |
ClinGen gnomAD |
|
|
CA377186939 rs1303798043 |
212 | F>L | No |
ClinGen gnomAD |
|
|
rs1399485010 CA377186925 |
214 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 214 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1358485991 CA377186921 |
214 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1399485010 CA377186924 |
214 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1299950021 CA377186915 |
215 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5552596 rs747098597 |
216 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs768915608 CA5552597 |
216 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5552595 rs774282516 |
219 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs770808011 CA5552594 |
220 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs755730085 CA5552591 COSM239669 |
224 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5552590 rs145768355 |
224 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145768355 CA377186863 |
224 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1255722327 CA377186847 |
227 | L>S | No |
ClinGen gnomAD |
|
|
CA377186840 rs1211288138 |
228 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA377186830 rs1222988988 |
230 | A>T | No |
ClinGen TOPMed |
|
|
CA5552586 rs766868048 |
230 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5552584 rs750770644 |
233 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338517213 CA377186790 |
236 | Y>D | No |
ClinGen gnomAD |
|
|
CA377186781 rs1264681515 |
237 | L>P | No |
ClinGen gnomAD |
|
|
CA209591423 rs1054784875 |
238 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM1348978 CA377186778 rs1401443446 |
238 | R>Q | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5552581 rs754056598 |
239 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs762114627 CA5552582 |
239 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764419959 CA5552580 |
241 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377186757 rs1169509513 |
242 | D>N | No |
ClinGen gnomAD |
|
|
rs371770780 CA5552577 |
244 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369205711 CA5552576 |
244 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs898211801 CA209591416 |
245 | A>T | No |
ClinGen TOPMed |
|
|
CA5552574 rs769632241 |
247 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA377186726 rs1484436546 |
247 | R>H | No |
ClinGen gnomAD |
|
|
CA5552573 rs747945856 |
251 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA209591407 rs763231603 |
252 | F>* | No |
ClinGen Ensembl |
|
|
CA377186680 rs1260028595 |
254 | P>T | No |
ClinGen gnomAD |
|
|
CA5552570 rs746477497 |
256 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs367613143 CA5552569 |
257 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377186662 rs367613143 |
257 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758941381 CA5552568 |
257 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5552565 rs199525944 |
261 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5552566 rs199525944 |
261 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377186614 rs1398052680 |
263 | T>A | No |
ClinGen TOPMed |
|
|
CA377186599 rs1385939812 |
265 | T>S | No |
ClinGen gnomAD |
|
|
rs201647688 CA5552545 |
269 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1427059797 CA377186567 |
270 | A>T | No |
ClinGen gnomAD |
|
|
rs567996573 CA209590956 |
271 | Q>E | No |
ClinGen gnomAD |
|
|
CA377186550 rs1283874590 |
272 | L>W | No |
ClinGen TOPMed |
|
|
rs113384057 CA5552543 |
274 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5552542 rs752916755 |
275 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317858089 CA377186532 |
275 | Q>R | No |
ClinGen TOPMed |
|
|
rs1451297944 CA377186521 |
276 | R>S | No |
ClinGen gnomAD |
|
|
CA209590947 rs868330452 |
279 | P>S | No |
ClinGen Ensembl |
|
|
CA377186497 rs1265296618 |
280 | D>G | No |
ClinGen gnomAD |
|
|
VAR_012191 CA5552539 rs151023501 |
281 | R>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5552538 rs375640759 |
281 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151023501 CA5552540 |
281 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs549728029 CA5552536 |
282 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377186491 rs1355581600 |
282 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs763855931 CA5552535 |
285 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1324912739 CA377186460 |
286 | R>S | No |
ClinGen gnomAD |
|
|
CA5552534 rs760533724 |
287 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1298117299 CA377186448 |
289 | P>A | No |
ClinGen gnomAD |
|
|
rs1564664337 CA377186438 |
290 | P>L | No |
ClinGen Ensembl |
|
|
CA5552533 rs370778375 |
291 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377186432 rs1564664328 |
292 | D>N | No |
ClinGen Ensembl |
|
|
rs1477799365 CA377186416 |
294 | Q>* | No |
ClinGen gnomAD |
|
|
CA377186412 rs1201614516 |
294 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5552531 rs182963575 |
294 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1480798069 CA377186407 |
295 | Y>C | No |
ClinGen gnomAD |
|
|
COSM1675338 CA377186402 COSM1675339 rs1348459999 |
296 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs765994939 CA5552530 |
296 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142804992 CA5552529 |
298 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5552528 rs749880160 |
301 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA377186356 rs1199698657 |
303 | K>E | No |
ClinGen gnomAD |
|
|
CA5552527 rs778267726 |
303 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA377186328 rs1371912972 |
305 | A>G | No |
ClinGen TOPMed |
|
|
CA377186324 rs1448029637 |
306 | H>Y | No |
ClinGen gnomAD |
|
|
CA377186304 rs1589116510 |
309 | E>Q | No |
ClinGen Ensembl |
|
|
CA377186290 rs1589116508 |
310 | I>M | No |
ClinGen Ensembl |
|
|
rs1381001036 CA377186286 |
311 | L>S | No |
ClinGen gnomAD |
|
|
rs1221307331 CA377186289 |
311 | L>V | No |
ClinGen TOPMed |
|
|
CA5552507 rs770360802 |
312 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1399883746 CA377186270 |
313 | S>F | No |
ClinGen gnomAD |
|
|
CA377186274 rs1299714080 |
313 | S>P | No |
ClinGen TOPMed |
|
|
CA377186260 rs1411713427 |
315 | C>R | No |
ClinGen gnomAD |
|
|
rs1311969597 CA377186235 |
318 | H>R | No |
ClinGen TOPMed |
|
|
CA5552504 rs781657306 |
321 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5552503 rs755122185 |
322 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589116479 CA377186200 |
323 | K>R | No |
ClinGen Ensembl |
|
|
rs1184004942 CA377186179 |
326 | L>F | No |
ClinGen gnomAD |
|
|
CA5552501 rs139937454 |
329 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5552500 rs139937454 |
329 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1564663074 CA377186148 |
331 | P>L | No |
ClinGen Ensembl |
|
|
rs1206252542 CA377186139 |
333 | W>R | No |
ClinGen gnomAD |
|
|
CA377186100 rs1288578953 |
338 | E>G | No |
ClinGen gnomAD |
|
|
rs1247049767 CA377186095 |
339 | S>G | No |
ClinGen TOPMed |
|
|
CA5552498 rs777523832 |
340 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756130136 CA5552497 |
344 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1357958927 CA377186060 |
344 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 347 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA209584839 rs200481547 |
348 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs76434138 CA209584836 |
348 | G>V | No |
ClinGen Ensembl |
|
|
rs1343200305 CA377186012 |
349 | L>Q | No |
ClinGen gnomAD |
|
|
CA5552473 rs545988421 |
350 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5552472 rs545988421 |
350 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377185998 rs1367239004 |
351 | E>D | No |
ClinGen TOPMed |
|
|
CA377186004 rs1163457596 |
351 | E>K | No |
ClinGen TOPMed |
|
|
CA5552471 rs376310717 |
352 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766077361 CA377185981 |
354 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs766077361 CA5552470 |
354 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs762743509 CA5552469 |
355 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA377185977 rs1015700289 |
355 | Q>L | No |
ClinGen TOPMed |
|
|
CA209584824 rs1015700289 |
355 | Q>R | No |
ClinGen TOPMed |
|
|
rs147908494 CA5552467 |
357 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749869606 CA5552468 |
357 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5552466 rs762212156 |
360 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5552464 rs769183931 |
364 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5552463 rs373086705 |
365 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 369 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377185869 rs1382699490 |
371 | V>I | No |
ClinGen gnomAD |
|
|
CA5552459 rs145211991 |
374 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs139699926 CA5552458 |
376 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763664480 CA5552425 |
377 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs763664480 CA5552426 |
377 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA377185577 rs1308335631 |
378 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs756603743 CA5552424 |
379 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA209582765 rs889426343 |
381 | S>R | No |
ClinGen TOPMed |
|
|
CA377185548 rs1381841364 |
382 | P>S | No |
ClinGen gnomAD |
|
|
CA5552421 rs768020117 |
383 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148267944 CA5552420 |
385 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5552419 rs774599264 |
388 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377185499 rs149336255 |
389 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369177164 CA5552417 |
391 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377185478 rs1352553966 |
393 | I>L | No |
ClinGen TOPMed |
|
|
rs773420599 CA5552415 |
393 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748249410 CA5552414 |
395 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs748249410 CA5552413 |
395 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5552412 rs775500009 |
396 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA377185450 rs745653828 |
397 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5552410 rs745653828 |
397 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567071975 CA5552411 |
397 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778614213 CA5552409 |
398 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs7083532 CA209582735 |
399 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 400 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374769397 CA209582733 |
400 | L>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA377185425 rs1266948626 |
401 | K>R | No |
ClinGen gnomAD |
|
|
CA377185420 rs1564660055 |
402 | K>Q | No |
ClinGen Ensembl |
|
|
CA5552408 rs770616157 |
403 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA377185402 rs1490496881 |
404 | A>G | No |
ClinGen gnomAD |
|
|
rs777418264 CA5552406 |
406 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs777418264 CA377185391 |
406 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1352329174 CA377185376 |
408 | P>L | No |
ClinGen gnomAD |
|
|
CA377185373 rs1232126927 |
409 | P>L | No |
ClinGen gnomAD |
|
|
rs755558331 CA5552405 |
409 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs7083418 CA5552404 |
410 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 410 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5552403 rs781685876 |
412 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5552383 rs747630787 |
415 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377185320 rs1418942224 |
415 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA377185316 rs1428088255 |
415 | W>L | No |
ClinGen TOPMed |
|
|
rs150500888 CA5552381 |
419 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141641524 CA209582635 |
421 | D>E | No |
ClinGen ESP |
|
|
COSM1505716 rs200978167 CA5552380 |
423 | L>P | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA377185260 rs1589679619 |
424 | D>A | No |
ClinGen Ensembl |
|
|
rs780621697 CA5552379 |
424 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs758769408 CA5552378 |
425 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1203953814 CA377185233 |
428 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 429 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1436719999 CA377185230 |
429 | E>K | No |
ClinGen gnomAD |
|
|
CA377185225 rs1270345965 |
429 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5552375 rs762168022 |
430 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs753949042 CA5552374 |
431 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377185215 rs1342093709 |
431 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA377185217 rs1342093709 |
431 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA377185205 rs1245726453 |
433 | K>E | No |
ClinGen gnomAD |
|
|
rs1245726453 CA377185206 |
433 | K>Q | No |
ClinGen gnomAD |
|
|
CA5552373 rs764140915 |
433 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA209582617 rs1007524995 |
434 | K>N | No |
ClinGen TOPMed |
|
|
CA5552372 rs773708177 |
436 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5552370 rs770936832 |
437 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 438 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420172613 CA377185131 |
443 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5552367 rs574287013 |
444 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776189860 CA5552365 |
445 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5552366 rs747860932 |
445 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA377185113 rs1253956082 |
446 | Q>R | No |
ClinGen TOPMed |
|
|
rs746532921 CA5552363 |
448 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230608557 CA377185101 |
448 | Y>N | No |
ClinGen gnomAD |
|
|
rs1275944269 CA377185074 |
451 | T>I | No |
ClinGen gnomAD |
|
|
rs1440012354 CA377185077 |
451 | T>S | No |
ClinGen gnomAD |
|
|
rs3736518 VAR_051971 CA5552362 |
452 | E>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1036705005 CA209582589 |
455 | E>Q | No |
ClinGen TOPMed |
|
|
CA377185036 rs1372874560 |
457 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759024075 CA5552360 |
457 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs779489054 CA5552358 |
463 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA377184968 rs1302469047 |
467 | H>L | No |
ClinGen gnomAD |
|
|
CA209582575 rs958559470 |
472 | L>V | No |
ClinGen Ensembl |
|
|
rs143345132 CA5552356 |
474 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5552355 rs143345132 |
474 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs34313575 CA5552344 |
475 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377184898 rs1197759352 |
476 | P>L | No |
ClinGen TOPMed |
|
|
CA377184903 rs1452754466 |
476 | P>T | No |
ClinGen gnomAD |
|
|
rs1343256675 CA377184892 |
477 | S>F | No |
ClinGen gnomAD |
|
|
CA377184885 rs2271905 |
478 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772702159 CA5552342 |
479 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209582191 rs901358755 |
481 | I>T | No |
ClinGen TOPMed |
|
|
rs779579226 CA5552340 |
481 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1406417402 CA377184848 |
484 | D>V | No |
ClinGen TOPMed |
|
|
rs368272944 CA5552339 |
485 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5552337 rs777812308 |
487 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 488 | F>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5552336 rs202192150 |
489 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5552335 rs202192150 |
489 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767647886 CA5552334 |
490 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5552333 rs370369866 |
491 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 492 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262544427 CA377184790 |
493 | D>A | No |
ClinGen gnomAD |
|
|
rs1221790693 CA377184782 |
494 | K>T | No |
ClinGen gnomAD |
|
|
rs1325811464 CA377184777 |
495 | I>L | No |
ClinGen gnomAD |
|
|
rs750300891 CA5552332 |
497 | G>R | No |
ClinGen ExAC |
|
|
CA377184729 rs1397949331 |
500 | P>R | No |
ClinGen TOPMed |
|
|
rs997158735 CA209581798 |
501 | N>D | No |
ClinGen Ensembl |
|
|
CA377184725 rs36152134 |
501 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5552310 VAR_051972 rs36152134 |
501 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs36152134 CA377184726 |
501 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5552308 rs147899211 |
504 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778773256 CA5552307 |
511 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs535058684 CA5552306 |
512 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs887598631 CA209581780 |
514 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5552305 rs753571418 |
514 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA377184609 rs1479588099 |
517 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA377184615 rs1446159511 |
517 | D>N | No |
ClinGen TOPMed |
|
|
CA209581776 rs574386748 |
518 | S>G | No |
ClinGen 1000Genomes |
|
|
CA377184587 rs1205871283 |
520 | D>A | No |
ClinGen gnomAD |
|
|
CA5552302 rs148424337 |
521 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5552301 rs767311213 |
522 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377184554 rs1340729842 |
525 | E>Q | No |
ClinGen gnomAD |
|
|
rs144762181 CA5552298 |
530 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM414966 CA5552296 rs763580316 |
531 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA377184514 rs763580316 |
531 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA377184497 rs1462244327 |
533 | A>S | No |
ClinGen TOPMed |
|
|
rs1057443269 CA209581756 |
533 | A>V | No |
ClinGen Ensembl |
|
|
rs773433177 CA5552295 |
537 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs938655879 CA209581753 |
537 | G>R | No |
ClinGen Ensembl |
|
|
CA5552294 rs770135861 |
539 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5552293 rs748515708 |
539 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs149666428 CA5552292 |
540 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377184450 rs1181416956 |
541 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 541 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1169360677 CA377184444 |
542 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs142175521 CA5552291 |
544 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5552290 rs747068425 |
546 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5552289 rs377268652 |
548 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5552288 rs757129776 |
549 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs914765225 CA209581727 |
550 | D>A | No |
ClinGen Ensembl |
|
|
CA377184388 rs1589677508 |
550 | D>H | No |
ClinGen Ensembl |
|
|
rs200561293 CA5552287 |
554 | A>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs1289274506 CA377184356 |
555 | H>N | No |
ClinGen gnomAD |
|
|
rs1289274506 CA377184355 |
555 | H>Y | No |
ClinGen gnomAD |
|
|
rs777578873 CA5552286 |
556 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752564786 CA5552284 |
557 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA377184336 rs1337001067 |
558 | I>V | No |
ClinGen gnomAD |
|
|
rs148683257 CA5552283 |
559 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5552282 rs144173337 |
559 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs955992338 CA209581714 |
560 | K>R | No |
ClinGen Ensembl |
|
|
CA377184294 rs1254478699 |
564 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs751105312 CA5552281 |
565 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs149874709 CA5552280 |
566 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1391991241 CA377184265 |
568 | V>E | No |
ClinGen gnomAD |
|
|
CA5552265 rs781195580 |
569 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs754659883 CA5552264 |
570 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA377184243 rs1196753331 |
570 | P>T | No |
ClinGen TOPMed |
|
|
CA5552263 rs368495430 |
571 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5552262 rs765950499 |
572 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs757883984 CA5552261 |
572 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs757883984 CA377184230 |
572 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 574 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377184218 rs1589676249 |
574 | T>N | No |
ClinGen Ensembl |
|
|
CA5552259 rs765752296 |
576 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5552260 rs139138878 |
576 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762346877 CA5552258 |
580 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA377184166 rs1403926951 |
582 | E>K | No |
ClinGen gnomAD |
|
|
rs867922732 CA209581040 |
583 | D>Y | No |
ClinGen Ensembl |
|
|
CA5552256 rs35331959 |
584 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761033931 CA5552255 |
585 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1666367 COSM1666366 CA5552254 rs377196140 |
586 | T>M | eye pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1390627710 CA377184136 |
587 | G>R | No |
ClinGen gnomAD |
|
|
rs1442402867 CA377184116 |
590 | V>I | No |
ClinGen gnomAD |
|
|
CA377184110 rs1167873331 |
591 | M>L | No |
ClinGen TOPMed |
|
|
CA5552253 rs772208142 |
591 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210238819 CA377184101 |
592 | A>P | No |
ClinGen gnomAD |
|
|
rs1466266439 CA377184097 |
592 | A>V | No |
ClinGen TOPMed |
|
|
rs769855078 CA5552250 |
594 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA377184081 rs1203721043 |
595 | D>G | No |
ClinGen gnomAD |
|
|
rs1257240907 CA377184073 |
596 | V>A | No |
ClinGen gnomAD |
|
|
CA5552249 rs748150914 |
596 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA377184076 rs748150914 |
596 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs201794246 CA5552248 |
597 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377184068 rs1245432805 |
597 | D>G | No |
ClinGen gnomAD |
|
|
rs779706766 CA5552245 |
598 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM427870 CA209581007 rs962509611 |
599 | N>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA5552242 rs141589370 |
604 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5552241 rs756774479 |
604 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209580994 rs1010974436 |
605 | L>W | No |
ClinGen TOPMed |
|
|
rs1485557842 CA377184000 |
608 | Y>C | No |
ClinGen TOPMed |
|
|
rs1589676069 CA377184003 |
608 | Y>H | No |
ClinGen Ensembl |
|
|
rs754277869 CA5552240 |
609 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1386559547 CA377183974 |
612 | A>P | No |
ClinGen Ensembl |
|
|
CA377183955 rs1564658113 |
615 | A>E | No |
ClinGen Ensembl |
|
|
rs764617729 CA5552239 |
621 | L>P | No |
ClinGen ExAC |
|
|
rs1415482199 CA377183876 |
627 | V>M | No |
ClinGen gnomAD |
|
|
rs767751204 CA5552233 |
631 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1180575438 CA377183845 |
632 | N>D | No |
ClinGen gnomAD |
|
|
rs1003723347 CA209580965 |
632 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA377183835 rs1275743834 |
633 | T>N | No |
ClinGen gnomAD |
|
|
VAR_051973 CA5552230 rs2271904 |
634 | D>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5552231 COSM920250 rs754498552 |
634 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs763126112 CA5552229 |
637 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5552228 rs571686264 |
638 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1411546026 CA377183798 |
639 | S>N | No |
ClinGen gnomAD |
|
|
rs1011879083 CA209580946 |
640 | K>N | No |
ClinGen Ensembl |
|
|
rs928987211 CA209580943 |
641 | P>S | No |
ClinGen TOPMed gnomAD |
No associated diseases with O95905
No regional properties for O95905
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O95905 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| histone acetyltransferase binding | Binding to an histone acetyltransferase. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| fibroblast proliferation | The multiplication or reproduction of fibroblast cells, resulting in the expansion of the fibroblast population. |
| mRNA processing | Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of G1/S transition of mitotic cell cycle | Any signalling pathway that modulates the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle. |
| RNA splicing | The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9CS74 | Ecd | Protein ecdysoneless homolog | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEETMKLATM | EDTVEYCLFL | IPDESRDSDK | HKEILQKYIE | RIITRFAPML | VPYIWQNQPF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NLKYKPGKGG | VPAHMFGVTK | FGDNIEDEWF | IVYVIKQITK | EFPELVARIE | DNDGEFLLIE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AADFLPKWLD | PENSTNRVFF | CHGELCIIPA | PRKSGAESWL | PTTPPTIPQA | LNIITAHSEK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ILASESIRAA | VNRRIRGYPE | KIQASLHRAH | CFLPAGIVAV | LKQRPRLVAA | AVQAFYLRDP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IDLRACRVFK | TFLPETRIMT | SVTFTKCLYA | QLVQQRFVPD | RRSGYRLPPP | SDPQYRAHEL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GMKLAHGFEI | LCSKCSPHFS | DCKKSLVTAS | PLWASFLESL | KKNDYFKGLI | EGSAQYRERL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EMAENYFQLS | VDWPESSLAM | SPGEEILTLL | QTIPFDIEDL | KKEAANLPPE | DDDQWLDLSP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DQLDQLLQEA | VGKKESESVS | KEEKEQNYDL | TEVSESMKAF | ISKVSTHKGA | ELPREPSEAP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ITFDADSFLN | YFDKILGPRP | NESDSDDLDD | EDFECLDSDD | DLDFETHEPG | EEASLKGTLD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NLKSYMAQMD | QELAHTCISK | SFTTRNQVEP | VSQTTDNNSD | EEDSGTGESV | MAPVDVDLNL |
| 610 | 620 | 630 | 640 | ||
| VSNILESYSS | QAGLAGPASN | LLQSMGVQLP | DNTDHRPTSK | PTKN |