Q9Y4P3
PR
Gene name |
TBL2 (WBSCR13, UNQ563/PRO1125) |
Protein name |
Transducin beta-like protein 2 |
Names |
WS beta-transducin repeats protein, WS-betaTRP, Williams-Beuren syndrome chromosomal region 13 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26608 |
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 Q9Y4P3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y4P3-F1 | Predicted | AlphaFoldDB |
403 variants for Q9Y4P3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001252930 rs781866230 CA4288821 |
7 | S>L | Microcephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1227080170 CA367819105 |
2 | E>* | No |
ClinGen TOPMed |
|
|
CA4288827 rs369089845 CA4288828 |
2 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782574450 CA367819100 |
3 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554589561 CA367819097 |
3 | L>R | No |
ClinGen gnomAD |
|
|
rs782574450 CA4288826 |
3 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367819093 rs1196876494 |
4 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367819091 rs1196876494 |
4 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA367819089 rs145427595 |
5 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4288824 rs145427595 |
5 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367819086 rs1554589556 |
5 | Q>H | No |
ClinGen gnomAD |
|
|
rs782744861 CA4288823 |
5 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1554589550 CA367819077 |
6 | M>I | No |
ClinGen gnomAD |
|
|
rs140358393 CA4288822 |
6 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367819071 rs76029572 |
8 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs76029572 CA4288819 |
8 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs902035681 CA160078358 |
9 | L>F | No |
ClinGen TOPMed |
|
|
CA367819057 rs1300300981 |
10 | M>L | No |
ClinGen TOPMed |
|
|
CA4288818 rs781945980 |
13 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA4288816 rs782077046 |
14 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs868960421 CA367818995 |
20 | A>V | No |
ClinGen Ensembl |
|
|
rs1247369418 CA367818988 |
22 | M>V | No |
ClinGen TOPMed |
|
|
CA367818979 rs1314914778 |
23 | A>P | No |
ClinGen TOPMed |
|
|
CA367818977 rs1554589530 |
23 | A>V | No |
ClinGen gnomAD |
|
|
CA367818965 rs1554589524 |
25 | A>V | No |
ClinGen gnomAD |
|
|
rs1554589517 CA367818942 |
29 | R>Q | No |
ClinGen gnomAD |
|
|
CA367818943 rs1554589519 |
29 | R>W | No |
ClinGen gnomAD |
|
|
CA367818934 rs1554589513 |
30 | G>E | No |
ClinGen gnomAD |
|
|
CA367818931 rs1584042472 |
31 | W>G | No |
ClinGen Ensembl |
|
|
CA367818922 rs1554589508 |
32 | L>Q | No |
ClinGen gnomAD |
|
|
CA367818916 rs1259426392 |
33 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1554589505 CA367818911 |
34 | A>G | No |
ClinGen Ensembl |
|
|
CA4288808 rs782466980 |
34 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA160078291 rs371204382 |
35 | G>E | No |
ClinGen ESP |
|
|
CA160078288 rs113567094 |
36 | E>V | No |
ClinGen Ensembl |
|
|
rs1384476785 CA367818884 |
38 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA160078278 rs1042664084 |
38 | R>W | No |
ClinGen Ensembl |
|
|
COSM3431746 rs201337053 CA4288807 |
39 | S>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1554589484 CA367818873 |
40 | G>C | No |
ClinGen gnomAD |
|
|
rs1554589480 CA367818867 |
41 | R>Q | No |
ClinGen gnomAD |
|
|
CA367818859 rs1364422459 |
42 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1554589472 CA367818858 |
43 | A>T | No |
ClinGen gnomAD |
|
|
rs1431041921 CA367818696 |
44 | C>F | No |
ClinGen TOPMed |
|
|
rs782431076 CA4288762 |
49 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs781838197 CA4288761 |
52 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461428781 CA367818561 |
54 | K>E | No |
ClinGen TOPMed |
|
|
CA4288760 rs540133753 |
56 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145933469 CA367818510 |
57 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145933469 CA4288758 |
57 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368949999 CA4288757 |
58 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554588498 CA367818459 |
61 | Q>L | No |
ClinGen gnomAD |
|
|
rs781812430 CA4288755 |
63 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA367818435 rs1554588493 |
63 | Q>R | No |
ClinGen gnomAD |
|
|
COSM1635384 CA4288754 rs557638748 |
64 | Y>H | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA160077168 rs202092725 |
66 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA4288753 rs148919234 |
66 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4288750 rs144900423 |
68 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145718922 CA4288751 |
68 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367818289 rs1554588480 |
72 | P>L | No |
ClinGen gnomAD |
|
|
CA4288747 rs200049564 |
73 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373410374 CA160077161 |
75 | H>Q | No |
ClinGen gnomAD |
|
|
CA4288746 rs782319984 |
75 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1554588470 CA367818223 |
76 | N>S | No |
ClinGen gnomAD |
|
|
CA160077151 rs199706490 |
79 | H>P | No |
ClinGen Ensembl |
|
|
CA4288744 COSM1288370 rs556994039 |
80 | R>C | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA4288743 rs782343176 COSM1091586 |
80 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1443509914 CA367817961 |
88 | S>N | No |
ClinGen TOPMed |
|
|
CA367817946 rs1279638020 |
89 | H>N | No |
ClinGen TOPMed |
|
|
rs201725579 CA4288718 |
91 | G>A | No |
ClinGen 1000Genomes ExAC |
|
|
CA4288719 rs782234313 |
91 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373925412 CA4288717 |
93 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781801891 CA4288716 |
94 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs782695890 CA4288715 |
96 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4288714 rs782484889 |
99 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4288712 rs782770046 |
102 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554588358 CA367817706 |
103 | K>N | No |
ClinGen gnomAD |
|
|
CA367817708 COSM195725 rs1563452127 |
103 | K>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA367817698 rs1584031487 |
104 | Y>S | No |
ClinGen Ensembl |
|
| TCGA novel | 106 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782066015 CA160077083 |
106 | A>V | No |
ClinGen Ensembl |
|
|
CA4288710 rs575377308 |
107 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782074044 CA4288708 |
110 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs182291282 CA4288707 |
112 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4288706 rs370483599 |
112 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370483599 CA367817621 |
112 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554588349 CA367817619 |
113 | T>A | No |
ClinGen gnomAD |
|
|
rs1554588349 CA367817620 |
113 | T>P | No |
ClinGen gnomAD |
|
|
COSM3698532 CA4288705 rs141002736 |
115 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1554588344 COSM1091585 CA367817605 |
115 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA367817603 rs1554588344 |
115 | R>L | No |
ClinGen gnomAD |
|
|
CA367817577 rs1554588340 |
119 | T>A | No |
ClinGen gnomAD |
|
|
CA4288701 rs782572458 |
119 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1554588337 CA367817569 |
120 | K>R | No |
ClinGen gnomAD |
|
|
CA367817539 rs1554588329 |
124 | Q>R | No |
ClinGen gnomAD |
|
|
rs782228480 CA4288699 |
125 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1171222574 CA367817534 |
125 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs782520215 CA4288697 |
128 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782520215 CA4288698 |
128 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs574546381 CA4288696 |
128 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 129 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM233547 CA4288694 rs782529827 |
130 | M>I | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4288695 rs200534976 |
130 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4288693 rs781807052 |
132 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4288690 rs147754612 |
133 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs553121995 CA4288692 |
133 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375584679 CA4288688 |
134 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375584679 CA4288689 |
134 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1327306425 CA367817459 |
137 | D>G | No |
ClinGen TOPMed |
|
|
rs782320508 CA4288686 |
137 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA4288683 rs782361220 |
139 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782339649 CA4288682 |
139 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs782262287 CA4288681 |
141 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4288680 rs200116681 |
142 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs76183567 CA4288678 |
143 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4288677 rs373074498 |
143 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4288679 rs76183567 |
143 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782454162 CA4288676 |
145 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs782207571 CA4288675 |
146 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA367817410 rs1563451777 |
146 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4288674 rs782606996 |
148 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA367817311 rs1301031927 |
151 | F>C | No |
ClinGen TOPMed |
|
|
CA4288657 rs201440606 |
152 | I>L | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA4288656 rs201440606 |
152 | I>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs150732801 CA4288652 |
153 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 153 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4288653 rs373168324 |
153 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235787371 CA367817257 |
156 | A>V | No |
ClinGen TOPMed |
|
|
CA4288651 rs782789926 |
157 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4288649 rs375440560 |
158 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1431264297 CA367817230 |
159 | D>G | No |
ClinGen TOPMed |
|
|
rs782796582 CA4288648 |
159 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4288646 rs781926043 |
160 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367817222 rs1584029794 |
160 | T>P | No |
ClinGen Ensembl |
|
|
rs782741857 CA367817203 |
162 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4288645 rs782741857 |
162 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372356020 CA4288644 |
162 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA367817185 rs1554588191 |
164 | F>V | No |
ClinGen gnomAD |
|
|
CA367817134 rs1168628493 |
168 | K>R | No |
ClinGen TOPMed |
|
|
CA4288642 rs558316664 |
169 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4288643 COSM340799 rs368230823 |
169 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4288641 rs537053937 |
171 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1365719090 CA367817090 |
172 | G>E | No |
ClinGen TOPMed |
|
|
rs909772870 CA160076887 |
172 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 172 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384324990 CA367817080 |
173 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 174 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4288639 rs782307846 |
175 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584029622 CA367817028 |
178 | A>D | No |
ClinGen Ensembl |
|
|
CA367817006 rs1554588180 |
180 | P>L | No |
ClinGen gnomAD |
|
|
CA367817007 rs1554588180 |
180 | P>R | No |
ClinGen gnomAD |
|
|
rs1554588179 CA367816981 |
182 | D>E | No |
ClinGen Ensembl |
|
|
rs374299938 CA4288638 |
183 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554588178 CA367816956 |
184 | P>L | No |
ClinGen gnomAD |
|
|
rs1584029528 CA367816953 |
185 | K>E | No |
ClinGen Ensembl |
|
|
rs782596774 CA4288637 |
185 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA367816919 rs1554588171 |
187 | H>Q | No |
ClinGen gnomAD |
|
|
rs782509749 CA4288636 |
187 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782240994 CA4288635 |
188 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA367816901 rs1554588167 |
189 | A>T | No |
ClinGen gnomAD |
|
|
rs782673735 COSM1091583 CA4288634 |
189 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs199565638 CA160076862 |
193 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
rs1554588154 CA367816849 |
194 | I>V | No |
ClinGen gnomAD |
|
|
rs782798087 CA4288628 |
195 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4288604 rs782781029 |
203 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4288603 rs782151103 |
204 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1170807809 CA367816379 |
207 | S>A | No |
ClinGen TOPMed |
|
|
rs1398858721 CA367816376 |
207 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1170807809 CA367816382 |
207 | S>T | No |
ClinGen TOPMed |
|
|
rs1398858721 CA367816377 |
207 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1554588036 CA367816346 |
210 | T>A | No |
ClinGen gnomAD |
|
|
CA4288601 rs782306855 |
210 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs782065497 CA4288600 |
211 | T>S | No |
ClinGen ExAC |
|
|
rs1554588025 CA367816309 |
214 | I>L | No |
ClinGen gnomAD |
|
|
rs1463584596 CA367816304 |
214 | I>T | No |
ClinGen TOPMed |
|
|
CA160076724 rs782394069 |
215 | W>C | No |
ClinGen gnomAD |
|
|
CA367816284 rs1325159545 |
216 | S>G | No |
ClinGen TOPMed |
|
|
rs781948720 CA4288599 |
216 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4288598 rs782357316 |
217 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA367816246 rs1554588006 |
219 | G>S | No |
ClinGen gnomAD |
|
|
CA367816237 rs1554588002 |
220 | Q>E | No |
ClinGen gnomAD |
|
|
CA160076711 rs11553139 |
221 | V>A | No |
ClinGen gnomAD |
|
|
rs1435565855 CA367816228 |
221 | V>M | No |
ClinGen TOPMed |
|
|
CA367816215 rs1554587998 |
222 | L>P | No |
ClinGen gnomAD |
|
|
rs782399308 CA4288595 |
223 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs782281955 CA4288594 |
224 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1342328637 CA367816196 |
224 | T>I | No |
ClinGen TOPMed |
|
|
rs148602652 CA4288593 |
225 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA160076706 rs576817468 |
227 | T>A | No |
ClinGen 1000Genomes |
|
|
CA4288591 rs781844358 |
227 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367816155 CA367816153 rs1451193951 |
228 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA160076704 rs1037179087 |
229 | Q>P | No |
ClinGen Ensembl |
|
|
rs543014802 CA4288589 |
230 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA367816138 rs1244153441 |
230 | M>V | No |
ClinGen TOPMed |
|
|
CA4288588 CA367816117 rs781890229 |
231 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1554587970 CA575323975 |
231 | N>T | No |
ClinGen gnomAD |
|
|
CA367816108 rs1478447045 |
232 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs138113015 CA4288587 |
233 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 234 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4288586 rs782052038 |
235 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs782742730 CA4288584 |
236 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA367816088 rs781806483 |
236 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781806483 CA4288585 |
236 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4288583 rs782093007 |
237 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs781982296 CA4288582 |
238 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4288581 rs554941502 |
239 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782143966 CA4288580 |
240 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4288550 rs145601505 |
245 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367816021 rs145601505 |
245 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782255018 CA4288549 |
246 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402344283 CA367816017 |
246 | S>T | No |
ClinGen TOPMed |
|
|
rs782255018 CA4288548 |
246 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367816010 rs1554587545 |
247 | C>Y | No |
ClinGen gnomAD |
|
|
rs782537697 CA4288546 |
251 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA367815983 rs1554587538 |
251 | P>S | No |
ClinGen gnomAD |
|
|
CA160076104 rs900546180 |
252 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 253 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584024301 CA367815957 |
255 | V>F | No |
ClinGen Ensembl |
|
|
rs1584024288 CA367815954 |
255 | V>G | No |
ClinGen Ensembl |
|
|
rs1554587535 CA367815952 |
256 | W>R | No |
ClinGen gnomAD |
|
|
rs1293064707 CA367815942 |
257 | E>* | No |
ClinGen TOPMed |
|
|
RCV000907547 CA4288545 rs141739395 |
257 | E>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA367815891 rs1246440520 |
264 | G>E | No |
ClinGen TOPMed |
|
|
rs138587904 CA367815893 CA4288544 |
264 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs138587904 CA4288543 |
264 | G>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA367815887 rs1563447896 |
265 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 265 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367815853 rs1584024137 |
269 | V>G | No |
ClinGen Ensembl |
|
|
rs782172925 CA4288540 |
269 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554587504 CA367815851 |
270 | V>L | No |
ClinGen gnomAD |
|
|
CA367815850 rs1554587504 |
270 | V>M | No |
ClinGen gnomAD |
|
|
rs1554587494 CA367815845 |
271 | R>* | No |
ClinGen gnomAD |
|
|
COSM1091580 rs1218760307 CA367815844 |
271 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs782032558 CA4288538 |
272 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA367815831 rs782708722 |
273 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA160076085 rs1042920409 |
273 | F>V | No |
ClinGen Ensembl |
|
|
CA4288536 rs376845974 |
274 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4288535 rs374978502 |
276 | K>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1554587484 CA367815802 |
278 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 279 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367815792 rs1554587482 |
279 | S>F | No |
ClinGen gnomAD |
|
|
rs782359328 CA4288534 |
279 | S>T | No |
ClinGen ExAC |
|
|
COSM747164 CA4288532 rs782001587 |
280 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4288531 rs782398538 |
280 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs372632701 CA4288528 |
283 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554587468 CA367815770 |
283 | H>Q | No |
ClinGen TOPMed |
|
|
CA4288529 rs372632701 |
283 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368795637 CA4288526 |
284 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 287 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367815737 rs1554587466 |
288 | S>F | No |
ClinGen gnomAD |
|
|
rs549519216 CA160076030 |
289 | N>S | No |
ClinGen Ensembl |
|
|
rs1380927677 CA367815720 |
291 | S>P | No |
ClinGen TOPMed |
|
|
rs185080024 CA367815713 |
292 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4288522 rs185080024 |
292 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4288523 rs151282199 |
292 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200216728 CA367815514 |
293 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1411252316 CA367815509 |
294 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4288501 rs782641542 |
295 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA367815489 rs1353745759 |
297 | V>A | No |
ClinGen TOPMed |
|
|
CA367815492 rs1329089262 |
297 | V>L | No |
ClinGen TOPMed |
|
|
CA367815481 rs1554587379 |
299 | K>E | No |
ClinGen gnomAD |
|
|
CA4288498 rs200952341 |
300 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 301 | G>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA160075953 rs983423620 |
302 | T>A | No |
ClinGen gnomAD |
|
|
CA367815454 rs1554587372 |
303 | W>R | No |
ClinGen gnomAD |
|
|
CA367815430 rs1554587370 |
306 | W>* | No |
ClinGen gnomAD |
|
|
rs1346006907 CA367815426 |
306 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA367815420 rs1554587364 |
307 | D>G | No |
ClinGen gnomAD |
|
|
rs1554587368 CA367815424 |
307 | D>N | No |
ClinGen gnomAD |
|
|
CA4288495 rs782715063 |
308 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs782119384 CA4288494 |
309 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA367815404 rs1554587357 |
310 | V>M | No |
ClinGen gnomAD |
|
|
CA367815386 rs1320295943 |
312 | Y>C | No |
ClinGen TOPMed |
|
|
CA367815388 rs1554587356 |
312 | Y>D | No |
ClinGen gnomAD |
|
|
CA4288490 CA367815377 rs373698202 |
313 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4288491 rs782171899 |
313 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs371243496 CA4288489 |
315 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1554587348 | 315 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1224164323 CA367815348 |
317 | D>V | No |
ClinGen TOPMed |
|
|
CA367815330 rs1554587346 |
320 | L>V | No |
ClinGen gnomAD |
|
|
rs781970807 CA4288487 |
320 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1554587343 CA367815307 |
323 | T>I | No |
ClinGen gnomAD |
|
|
CA4288486 rs202096872 COSM1451985 |
325 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA367815300 rs202096872 |
325 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs539449965 CA4288485 |
325 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs539449965 CA367815297 |
325 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202096872 CA367815299 |
325 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367815277 rs1198096406 |
328 | E>A | No |
ClinGen TOPMed |
|
|
rs782654232 CA367815269 |
329 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs782654232 CA4288484 |
329 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA367815262 rs1554587334 |
330 | A>V | No |
ClinGen gnomAD |
|
|
CA367815260 rs1554587328 |
331 | G>R | No |
ClinGen gnomAD |
|
|
CA4288479 rs779188248 |
333 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4288480 rs147744802 |
333 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4288478 rs779188248 |
333 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781909166 CA4288476 |
334 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1021616411 CA160075887 |
336 | R>C | No |
ClinGen gnomAD |
|
|
rs1021616411 CA367815233 |
336 | R>G | No |
ClinGen gnomAD |
|
|
rs782071345 CA4288474 |
336 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782071345 CA367815230 |
336 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781949744 CA4288473 |
337 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1563446854 CA367815225 |
338 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4288472 rs782749144 |
339 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370890782 CA4288470 |
341 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 341 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370890782 CA367815205 |
341 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782413649 CA4288469 |
342 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 342 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781912869 CA4288467 |
343 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35607697 CA367815182 |
345 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_053420 CA4288465 rs35607697 |
345 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1554587286 CA367815164 |
348 | L>M | No |
ClinGen gnomAD |
|
|
rs868916828 CA367815153 |
349 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 352 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554587283 CA367815134 |
352 | S>N | No |
ClinGen TOPMed |
|
|
CA4288462 rs782282179 CA367815132 |
352 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs905593132 CA160075857 |
353 | S>G | No |
ClinGen Ensembl |
|
|
CA367815125 rs1584022384 |
353 | S>R | No |
ClinGen Ensembl |
|
|
rs782679724 CA4288461 |
354 | I>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA367815108 rs1554587276 |
356 | L>F | No |
ClinGen gnomAD |
|
|
CA367815104 rs1474199119 |
357 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA367815095 rs1185219474 |
358 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1563446632 CA367815083 |
359 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1584022287 CA367815088 |
359 | T>P | No |
ClinGen Ensembl |
|
|
CA4288458 rs782487301 |
360 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4288457 rs782487301 |
360 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200069797 CA4288459 |
360 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200072505 CA4288455 |
361 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782027397 CA4288456 |
361 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs782688178 CA4288452 |
362 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1554587259 CA367815068 |
363 | E>G | No |
ClinGen gnomAD |
|
|
CA4288450 rs375849707 |
363 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554587254 CA367815064 |
364 | K>E | No |
ClinGen Ensembl |
|
|
rs782112015 CA4288448 |
364 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA367815050 rs868949352 |
366 | E>K | No |
ClinGen Ensembl |
|
|
CA367815041 rs782428194 |
367 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782428194 CA4288446 |
367 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4288444 rs149685073 |
370 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4288445 rs145821318 |
370 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782342321 CA4288443 |
372 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA367814997 rs782637042 |
374 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA4288441 COSM1091579 rs782637042 |
374 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4288438 rs782679561 |
377 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782447717 CA4288437 |
378 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372704268 COSM1451984 CA4288436 |
382 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA367814914 rs1463141438 |
386 | R>C | No |
ClinGen TOPMed |
|
|
rs200012711 CA4288435 |
386 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554587232 CA367814891 |
390 | S>P | No |
ClinGen gnomAD |
|
|
CA4288433 rs781849463 |
391 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1554587226 CA367814871 |
393 | D>Y | No |
ClinGen gnomAD |
|
|
CA367814865 rs782799644 |
394 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4288431 rs782172301 |
394 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4288432 rs782799644 |
394 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782328335 CA4288429 |
395 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4288430 rs782328335 |
395 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4288424 rs551317109 |
397 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782382369 CA4288425 |
397 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4288422 rs782415315 |
398 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA367814843 rs1584021605 |
399 | F>V | No |
ClinGen Ensembl |
|
|
rs782457083 CA4288419 |
402 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs368234822 CA4288418 |
403 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4288417 rs371947470 |
406 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201210140 CA4288416 |
406 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1554587183 CA367814774 |
409 | V>E | No |
ClinGen gnomAD |
|
|
rs1554587191 CA367814778 |
409 | V>M | No |
ClinGen gnomAD |
|
|
rs782463623 CA4288413 |
410 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA367814762 rs1554587178 |
411 | E>G | No |
ClinGen gnomAD |
|
|
rs112563616 CA160075698 |
412 | M>I | No |
ClinGen Ensembl |
|
|
rs782761195 CA4288411 |
414 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4288410 rs782115467 |
415 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA367814729 rs782115467 |
415 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA367814726 rs1554587176 |
416 | L>M | No |
ClinGen gnomAD |
|
|
rs370397109 CA4288407 |
418 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4288408 rs374301480 |
418 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA160075671 rs958285195 |
419 | A>V | No |
ClinGen Ensembl |
|
|
CA367814684 rs1554587158 |
422 | E>D | No |
ClinGen gnomAD |
|
|
RCV000910493 rs782325805 CA4288404 |
423 | S>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs782208230 CA4288403 |
424 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367814676 rs1584021235 |
424 | T>P | No |
ClinGen Ensembl |
|
|
CA4288402 rs781960303 |
425 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782374340 CA4288401 |
425 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367814668 rs782374340 |
425 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4288400 rs374150706 |
427 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA160075663 rs529493631 |
427 | R>S | No |
ClinGen 1000Genomes |
|
| TCGA novel | 429 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA160075661 rs562308906 |
430 | Q>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA367814640 rs562308906 |
430 | Q>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1554587150 CA367814633 |
431 | Q>E | No |
ClinGen gnomAD |
|
|
rs906734280 CA160075657 |
433 | T>A | No |
ClinGen Ensembl |
|
|
rs1554587143 CA367814619 |
433 | T>I | No |
ClinGen gnomAD |
|
|
rs782445179 CA4288397 |
435 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4288398 rs540726524 |
435 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540726524 CA160075652 |
435 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367814603 rs1554587137 |
436 | Q>* | No |
ClinGen gnomAD |
|
|
rs782207144 CA367814602 |
436 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs782207144 CA4288396 |
436 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1584021032 CA367814585 |
438 | T>I | No |
ClinGen Ensembl |
|
|
CA367814570 rs1554587132 |
441 | S>G | No |
ClinGen gnomAD |
|
|
rs1554587130 CA367814564 |
441 | S>R | No |
ClinGen gnomAD |
|
|
CA367814559 rs1554587126 |
442 | L>P | No |
ClinGen gnomAD |
|
|
rs781855457 CA4288393 |
443 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4288392 rs782774174 |
444 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782548433 CA4288391 |
444 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 448 | K>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q9Y4P3
Without disease ID
8 regional properties for Q9Y4P3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 79 - 118 | IPR001680-1 |
| repeat | WD40 repeat | 177 - 218 | IPR001680-2 |
| repeat | WD40 repeat | 218 - 257 | IPR001680-3 |
| repeat | WD40 repeat | 268 - 307 | IPR001680-4 |
| repeat | WD40 repeat | 361 - 400 | IPR001680-5 |
| repeat | G-protein beta WD-40 repeat | 105 - 119 | IPR020472-1 |
| repeat | G-protein beta WD-40 repeat | 203 - 217 | IPR020472-2 |
| repeat | G-protein beta WD-40 repeat | 294 - 308 | IPR020472-3 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| integral component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphoprotein binding | Binding to a phosphorylated protein. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| translation initiation factor binding | Binding to a translation initiation factor, any polypeptide factor involved in the initiation of ribosome-mediated translation. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to glucose starvation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of glucose. |
| cellular response to hypoxia | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| endoplasmic reticulum unfolded protein response | The series of molecular signals generated as a consequence of the presence of unfolded proteins in the endoplasmic reticulum (ER) or other ER-related stress; results in changes in the regulation of transcription and translation. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9R099 | Tbl2 | Transducin beta-like protein 2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MELSQMSELM | GLSVLLGLLA | LMATAAVARG | WLRAGEERSG | RPACQKANGF | PPDKSSGSKK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QKQYQRIRKE | KPQQHNFTHR | LLAAALKSHS | GNISCMDFSS | NGKYLATCAD | DRTIRIWSTK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DFLQREHRSM | RANVELDHAT | LVRFSPDCRA | FIVWLANGDT | LRVFKMTKRE | DGGYTFTATP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EDFPKKHKAP | VIDIGIANTG | KFIMTASSDT | TVLIWSLKGQ | VLSTINTNQM | NNTHAAVSPC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GRFVASCGFT | PDVKVWEVCF | GKKGEFQEVV | RAFELKGHSA | AVHSFAFSND | SRRMASVSKD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GTWKLWDTDV | EYKKKQDPYL | LKTGRFEEAA | GAAPCRLALS | PNAQVLALAS | GSSIHLYNTR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RGEKEECFER | VHGECIANLS | FDITGRFLAS | CGDRAVRLFH | NTPGHRAMVE | EMQGHLKRAS |
| 430 | 440 | ||||
| NESTRQRLQQ | QLTQAQETLK | SLGALKK |