Q8TEB1
PR
Gene name |
DCAF11 (WDR23, GL014, PRO2389) |
Protein name |
DDB1- and CUL4-associated factor 11 |
Names |
WD repeat-containing protein 23 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:80344 |
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 Q8TEB1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TEB1-F1 | Predicted | AlphaFoldDB |
409 variants for Q8TEB1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA257856907 rs141397291 |
2 | G>R | No |
ESP ClinGen |
|
|
CA7123685 rs750939495 |
3 | S>P | No |
ExAC gnomAD ClinGen |
|
|
rs1322390833 CA389216081 |
4 | R>G | No |
gnomAD ClinGen |
|
|
rs757215777 CA257856910 |
5 | N>D | No |
Ensembl ClinGen |
|
|
CA389216134 rs1335377560 |
6 | S>G | No |
ClinGen TOPMed |
|
|
rs1367527873 CA389216151 |
7 | S>G | No |
gnomAD ClinGen |
|
|
rs571217496 CA7123686 |
8 | S>G | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA257856918 rs934338935 |
8 | S>N | No |
TOPMed ClinGen |
|
|
CA257856921 rs888985023 |
9 | A>S | No |
TOPMed gnomAD ClinGen |
|
|
CA389216230 rs1371572331 |
9 | A>V | No |
TOPMed ClinGen |
|
|
rs1383191675 CA389216361 |
13 | S>F | No |
ClinGen gnomAD |
|
|
rs766795364 CA7123687 |
14 | G>E | No |
ExAC gnomAD ClinGen |
|
|
rs1313948517 CA389216372 |
14 | G>R | No |
ClinGen gnomAD |
|
|
rs1412998096 CA389216427 |
15 | D>A | No |
ClinGen gnomAD |
|
|
CA389216434 rs578153282 |
15 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412998096 CA389216430 |
15 | D>G | No |
gnomAD ClinGen |
|
|
rs143599073 CA7123689 |
16 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143599073 CA389216490 |
16 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA389216471 rs1317711616 |
16 | P>S | No |
gnomAD ClinGen |
|
|
CA7123691 rs148072819 |
19 | G>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs200354405 CA7123694 |
20 | L>F | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA389216673 rs1255109209 |
21 | P>R | No |
gnomAD ClinGen |
|
|
rs1185122797 CA389216652 |
21 | P>S | No |
gnomAD ClinGen |
|
|
rs771992266 CA7123695 |
22 | R>G | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 25 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174881258 CA389216763 |
25 | A>P | No |
ClinGen gnomAD |
|
|
rs1174881258 CA389216770 |
25 | A>T | No |
gnomAD ClinGen |
|
|
rs776149396 CA7123699 |
27 | L>R | No |
ExAC gnomAD ClinGen |
|
|
CA7123698 rs768311513 |
27 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs201970184 CA7123700 |
28 | R>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA7123701 rs769244022 |
28 | R>P | No |
ExAC gnomAD ClinGen |
|
|
CA389216909 rs201970184 |
28 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7123703 rs763491085 |
29 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257856942 rs763491085 |
29 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs536370745 CA7123702 |
29 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7123705 rs751872834 |
30 | S>G | No |
ExAC gnomAD ClinGen |
|
|
CA7123706 rs759850089 |
30 | S>N | No |
ExAC gnomAD ClinGen |
|
|
rs767714105 CA7123707 |
30 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7123708 rs752877833 |
31 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7123709 rs756208058 |
32 | E>G | No |
ExAC gnomAD ClinGen |
|
|
CA7123710 rs778069504 |
34 | E>G | No |
ExAC gnomAD ClinGen |
|
|
rs1433425530 CA389217300 |
36 | E>A | No |
ClinGen gnomAD |
|
|
CA389217314 rs1175895338 COSM1203037 |
36 | E>D | large_intestine [Cosmic] | No |
gnomAD ClinGen cosmic curated |
| TCGA novel | 37 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369137241 CA7123711 |
37 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7123712 rs758357390 |
39 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs780168564 COSM3814589 CA7123713 |
41 | D>Y | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1292003207 CA389217569 |
42 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA389217661 rs1399798865 |
43 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
CA389217707 rs1480214184 |
45 | V>I | No |
gnomAD ClinGen |
|
|
CA7123714 rs746749140 |
48 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1303909965 CA389217926 |
51 | R>H | No |
gnomAD ClinGen |
|
|
rs1303909965 CA389217923 |
51 | R>L | No |
gnomAD ClinGen |
|
|
rs1304890968 CA389219053 |
54 | Q>K | No |
ClinGen TOPMed |
|
|
CA389219090 rs1467469426 |
56 | R>K | No |
ClinGen gnomAD |
|
|
CA389219125 COSM552771 rs1440991756 |
58 | V>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs369906769 CA7123737 |
61 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA389219202 rs1185252611 |
62 | G>R | No |
gnomAD ClinGen |
|
|
rs1455054795 CA389219224 |
63 | A>G | No |
ClinGen TOPMed |
|
|
rs1030236641 CA257857295 |
63 | A>T | No |
TOPMed ClinGen |
|
| TCGA novel | 66 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1412587360 CA389219424 |
70 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA7123739 rs748755162 |
75 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA7123740 rs770449338 |
78 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs774815144 CA7123741 |
80 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA389219671 rs1345514729 |
81 | R>K | No |
ClinGen gnomAD |
|
|
rs746399014 CA7123742 |
86 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7123743 rs772477569 |
86 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389219769 rs772477569 |
86 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA389219784 rs1339351764 |
87 | L>F | No |
ClinGen gnomAD |
|
|
rs1414863420 CA389219798 |
88 | G>R | No |
ClinGen gnomAD |
|
|
CA257857314 rs370427032 |
89 | D>N | No |
ESP ClinGen |
|
|
CA389219834 rs1171057236 |
90 | R>* | No |
ClinGen Ensembl |
|
|
CA7123745 rs761110023 |
90 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1227339142 CA389219852 |
91 | Y>S | No |
ClinGen gnomAD |
|
|
CA389219882 rs1285434232 |
92 | N>D | No |
gnomAD ClinGen |
|
|
rs1188455820 CA389219911 |
93 | P>A | No |
ClinGen TOPMed |
|
|
CA7123765 rs769195482 |
97 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs781632336 CA7123766 |
98 | T>I | No |
ExAC gnomAD ClinGen |
|
|
CA389220236 rs1594334756 |
98 | T>P | No |
Ensembl ClinGen |
|
|
rs762194456 CA7123767 |
99 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA389220297 rs1175367830 |
99 | P>L | No |
gnomAD ClinGen |
|
|
CA389220311 rs1357075749 |
100 | D>N | No |
TOPMed ClinGen |
|
|
rs199590153 CA7123768 |
102 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs990664090 CA257857383 |
102 | R>W | No |
Ensembl ClinGen |
|
|
CA7123770 rs763098384 |
107 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs141724116 CA7123771 |
107 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs760439162 CA7123773 |
110 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7123776 rs567312085 |
114 | E>Q | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs975716068 CA257857392 |
114 | E>V | No |
ClinGen TOPMed |
|
|
rs925217648 CA257857393 |
115 | L>V | No |
TOPMed ClinGen |
|
|
rs1456626939 CA389220875 |
117 | T>A | No |
ClinGen gnomAD |
|
|
CA389220881 rs1566591260 |
117 | T>R | No |
ClinGen Ensembl |
|
|
rs1198199519 CA389221074 |
122 | L>H | No |
TOPMed gnomAD ClinGen |
|
|
CA389221174 rs368388963 |
124 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368388963 CA7123779 |
124 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749832638 CA7123778 |
124 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA257857404 rs61744791 |
126 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7123781 rs61744791 |
126 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs61744791 CA7123780 RCV000947554 |
126 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 126 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257857406 rs1050829196 |
127 | Q>P | No |
TOPMed gnomAD ClinGen |
|
|
CA7123782 rs769140311 |
128 | K>E | No |
ExAC gnomAD ClinGen |
|
|
rs142043152 CA7123783 |
128 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7123785 rs748537443 |
129 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748537443 CA7123784 |
129 | H>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs146290333 CA7123786 |
132 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762891063 CA7123787 COSM296473 |
133 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs139504177 CA7123789 |
133 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7123788 rs139504177 |
133 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs545495279 CA7123790 |
134 | M>I | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs762726270 CA7123813 |
140 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
CA7123812 rs373564829 |
140 | R>W | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7123815 rs751047852 |
141 | G>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA389221968 rs751047852 |
141 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7123816 rs754565870 |
144 | H>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7123818 rs191186717 |
145 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs144377321 CA7123817 |
145 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA389222124 rs1594335397 |
147 | S>T | No |
Ensembl ClinGen |
|
|
CA389222181 rs1419232831 |
148 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA7123820 rs778267113 |
150 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 152 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7123821 rs749455490 |
153 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389222310 rs749455490 |
153 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566591572 CA389222320 |
153 | Q>R | No |
ClinGen Ensembl |
|
|
CA7123822 rs757440140 |
154 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7123824 rs145438429 |
155 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA389222465 rs1288137056 |
156 | V>L | No |
ClinGen gnomAD |
|
|
CA389222529 rs1351447684 |
157 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 158 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747073593 CA7123846 |
163 | N>D | No |
ExAC gnomAD ClinGen |
|
|
CA7123847 rs559136856 |
163 | N>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA389223894 rs1175479309 |
164 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA257857616 rs371242058 |
165 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs749063211 CA7123849 |
168 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA389224025 rs1329490189 |
169 | D>N | No |
gnomAD ClinGen |
|
|
CA7123850 rs770898555 |
170 | S>C | No |
ExAC gnomAD ClinGen |
|
|
CA7123851 rs774115158 |
171 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408610503 CA389224118 |
173 | Q>L | No |
ClinGen TOPMed |
|
|
CA257857620 rs772041063 |
178 | G>V | No |
Ensembl ClinGen |
|
|
CA257857625 rs912116879 |
180 | Y>H | No |
ClinGen TOPMed |
|
|
CA257857627 rs575893059 |
181 | S>G | No |
1000Genomes gnomAD ClinGen |
|
|
CA389224395 rs1194453994 |
181 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 183 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300034640 CA389224454 |
184 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
rs963647265 CA257857630 |
187 | F>L | No |
ClinGen Ensembl |
|
|
rs1566591817 CA389224609 |
188 | M>I | No |
ClinGen Ensembl |
|
|
rs759327535 CA7123853 |
188 | M>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1220106619 CA389224593 |
188 | M>T | No |
TOPMed gnomAD ClinGen |
|
|
rs759327535 CA7123852 |
188 | M>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs186195111 CA7123854 |
191 | C>F | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1317766656 CA389224710 |
192 | Q>* | No |
ClinGen gnomAD |
|
|
CA389224889 rs1594336236 |
193 | D>A | No |
Ensembl ClinGen |
|
|
CA257857636 rs975061446 |
193 | D>N | No |
ClinGen Ensembl |
|
|
CA7123872 rs760179824 |
195 | T>I | No |
ExAC gnomAD ClinGen |
|
|
rs781372280 CA7123874 |
196 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs762369220 CA7123875 |
197 | R>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs993026594 CA257857719 |
197 | R>L | No |
ClinGen Ensembl |
|
|
CA257857723 rs975436748 |
199 | Y>C | No |
ClinGen TOPMed |
|
|
CA389225100 rs1361056154 |
200 | D>A | No |
gnomAD ClinGen |
|
|
rs766575438 CA7123879 |
201 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs751779478 CA7123880 |
202 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA389225157 rs1448316083 |
202 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs753081565 CA257857731 |
203 | Y>F | No |
TOPMed gnomAD ClinGen |
|
|
CA7123881 rs755053674 |
203 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA7123883 rs371332713 |
204 | G>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7123882 rs367858431 |
204 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1215040312 CA389225267 |
205 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
rs373070338 CA7123885 |
205 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7123886 rs745615600 |
206 | F>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs151306695 CA7123887 |
207 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7123888 VAR_020121 rs3825584 |
207 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs145411486 CA7123889 |
209 | F>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7123890 rs768203244 |
209 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs775948849 CA7123891 |
210 | K>E | No |
ExAC gnomAD ClinGen |
|
|
rs1156704941 CA389225446 |
210 | K>T | No |
gnomAD ClinGen |
|
|
rs747665449 CA7123892 |
211 | S>N | No |
ExAC gnomAD ClinGen |
|
|
CA389225607 rs1414538746 |
215 | R>C | No |
gnomAD ClinGen |
|
|
COSM954884 rs192332230 CA7123893 |
215 | R>H | endometrium [Cosmic] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA7123895 rs763281894 |
216 | D>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7123896 rs763281894 |
216 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs759734838 CA7123898 |
217 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA389225760 rs1594336407 |
220 | S>G | No |
ClinGen Ensembl |
|
|
CA389225772 rs767791856 |
220 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211469593 CA389225805 |
221 | V>D | No |
ClinGen TOPMed |
|
|
CA7123900 rs78469280 |
221 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7123901 rs78469280 |
221 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs750430332 CA7123903 |
225 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750430332 CA257857782 |
225 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389225961 rs1320240731 |
225 | A>T | No |
ClinGen gnomAD |
|
|
CA7123904 rs758178338 |
228 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758178338 CA257857784 |
228 | P>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs779774852 CA7123905 |
229 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs746599342 CA257857790 |
236 | S>F | No |
ClinGen TOPMed |
|
|
rs1379576663 CA389226368 |
238 | W>S | No |
ClinGen gnomAD |
|
|
rs141123841 CA7123907 |
240 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389226496 rs1566592120 |
242 | I>V | No |
ClinGen Ensembl |
|
|
rs750376750 CA389226608 |
244 | I>F | No |
ExAC gnomAD ClinGen |
|
|
CA7123922 rs762743335 |
244 | I>T | No |
ExAC gnomAD ClinGen |
|
|
rs750376750 CA7123921 |
244 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA257857853 rs944838647 |
246 | N>D | No |
TOPMed ClinGen |
|
|
rs769648639 CA257857854 |
246 | N>S | No |
Ensembl ClinGen |
|
|
CA389226670 rs1213096307 |
247 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA7123927 rs780800099 |
248 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7123925 rs754825693 |
248 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA7123926 rs780800099 |
248 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389226723 rs200009110 |
249 | G>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7123929 rs200009110 |
249 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1280383482 CA389226759 |
250 | E>D | No |
ClinGen gnomAD |
|
|
rs1338735983 CA389226854 |
253 | T>I | No |
gnomAD ClinGen |
|
|
rs1338735983 CA389226849 |
253 | T>K | No |
gnomAD ClinGen |
|
| TCGA novel | 255 | T>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389226889 rs1218203551 |
255 | T>P | No |
gnomAD ClinGen |
|
|
CA7123930 rs748842379 |
256 | A>T | No |
ClinGen ExAC |
|
|
CA7123931 rs771275831 |
256 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA389227188 rs1256383858 |
261 | P>L | No |
ClinGen gnomAD |
|
|
rs758828380 CA7123953 |
261 | P>S | No |
ClinGen ExAC |
|
|
CA7123954 rs371215955 |
262 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389227213 rs1185891855 |
263 | E>A | No |
ClinGen gnomAD |
|
|
CA7123955 rs373798935 |
264 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7123956 rs768964486 |
264 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs977854268 CA257858002 |
265 | R>C | No |
TOPMed ClinGen |
|
|
CA7123957 rs776938647 |
265 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748156429 CA7123958 |
268 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453143899 CA389227303 |
269 | F>I | No |
ClinGen gnomAD |
|
|
CA7123959 rs769957880 |
273 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA389227396 rs1331984536 |
274 | S>A | No |
ClinGen gnomAD |
|
|
CA7123961 rs759577573 |
276 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs368600384 CA257858011 |
277 | G>E | No |
ClinGen ESP TOPMed |
|
|
CA257858009 rs201597994 |
277 | G>R | No |
ClinGen Ensembl |
|
|
rs1233009037 CA389227452 |
278 | R>* | No |
TOPMed ClinGen |
|
|
CA7123962 rs554147000 |
278 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775197380 CA7123963 |
279 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1484045347 CA389227530 |
283 | G>E | No |
ClinGen gnomAD |
|
|
CA7123984 rs376746552 |
285 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1333555425 CA389227648 |
287 | G>D | No |
TOPMed ClinGen |
|
|
rs1172594732 CA389227763 |
293 | D>A | No |
TOPMed gnomAD ClinGen |
|
|
CA7123988 rs758007968 |
294 | R>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7123990 rs193046154 |
294 | R>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA7123989 rs193046154 |
294 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1439114138 CA389227801 |
296 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs781664166 CA7123992 |
297 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs777887187 CA7123995 |
298 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs138449987 COSM108762 CA7123994 |
298 | R>W | skin [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
COSM954885 CA7123996 rs749316385 |
299 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA7123997 rs771046627 |
299 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771046627 CA389227848 |
299 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7123999 rs747011195 |
301 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768320339 CA7124000 |
302 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs747957221 CA7124019 |
306 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7124020 rs769521906 |
308 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA389228047 rs1380441195 |
309 | D>H | No |
gnomAD ClinGen |
|
|
CA7124022 rs200470272 |
318 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs940637891 CA257858237 |
318 | I>V | No |
ClinGen TOPMed |
|
|
CA7124023 rs770722843 |
319 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA389228220 rs1304966191 |
320 | S>C | No |
ClinGen gnomAD |
|
|
rs773933615 CA7124024 |
321 | Q>E | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 323 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389228279 rs1245958801 |
323 | L>P | No |
gnomAD ClinGen |
|
|
CA7124026 rs768017413 |
333 | K>R | No |
ExAC gnomAD ClinGen |
|
|
rs1411949461 CA389228460 |
334 | V>A | No |
gnomAD ClinGen |
|
|
CA7124028 COSM1677903 rs761069212 |
337 | R>* | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs764505120 CA7124029 |
337 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244761192 CA389228527 |
338 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7124030 rs754042808 |
338 | R>L | No |
ClinGen ExAC TOPMed |
|
|
CA7124032 rs189677933 |
339 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs189677933 CA7124031 |
339 | T>N | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA389228534 rs1594338196 |
339 | T>P | No |
Ensembl ClinGen |
|
|
CA389228549 rs189677933 |
339 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7124033 rs750456189 |
340 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM954887 rs781157092 CA7124035 |
341 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7124034 rs758460322 |
341 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA257858304 rs949675871 |
342 | E>D | No |
gnomAD ClinGen |
|
|
CA389228587 rs1476726788 |
342 | E>K | No |
ClinGen TOPMed |
|
|
CA7124036 rs748105466 |
344 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA7124038 rs777653791 |
347 | P>S | Variant assessed as Somatic; 4.636e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA257858313 rs777653791 |
347 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389228701 COSM346396 rs1404442365 |
348 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA389228698 rs1404442365 |
348 | V>M | No |
ClinGen gnomAD |
|
|
rs1194344432 CA389228726 |
350 | A>T | No |
TOPMed ClinGen |
|
|
rs1452331747 CA389228735 |
350 | A>V | No |
ClinGen gnomAD |
|
|
CA7124039 rs749100632 |
354 | H>Y | No |
ExAC gnomAD ClinGen |
|
|
rs770669727 CA7124040 |
357 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7124041 rs370628049 |
358 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389228901 rs1202293372 |
360 | F>S | No |
ClinGen TOPMed |
|
|
CA389228934 rs1020467902 CA389228932 |
362 | D>E | No |
TOPMed gnomAD ClinGen |
|
|
rs1261493579 CA389228968 CA389228966 |
364 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA389230007 rs1429696522 |
365 | G>D | No |
TOPMed ClinGen |
|
|
rs763028259 CA7124070 |
367 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA389230046 rs763028259 |
367 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7124073 rs557214489 |
368 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7124072 rs557214489 |
368 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs145076278 CA7124071 |
368 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300269344 CA389230193 |
374 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1224937229 CA389230213 |
375 | K>E | No |
ClinGen gnomAD |
|
|
rs753865684 CA7124076 |
379 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357007280 CA389230370 |
380 | K>E | No |
gnomAD ClinGen |
|
|
CA7124078 rs149117330 |
385 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA389230494 rs1254278415 |
385 | R>Q | No |
ClinGen TOPMed |
|
|
rs750242502 CA7124079 |
386 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216980455 CA389230506 |
386 | R>H | No |
gnomAD ClinGen |
|
|
CA257858623 rs750242502 |
386 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257858626 rs751897017 |
389 | S>N | No |
ClinGen Ensembl |
|
|
rs746480770 CA7124082 |
390 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371403537 CA7124080 |
390 | R>W | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs990513872 CA257858633 |
397 | R>C | No |
gnomAD ClinGen |
|
|
rs768198049 CA7124083 |
397 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs768198049 CA389230791 |
397 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs201038060 CA7124084 |
401 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572390628 CA389230888 |
402 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs572390628 CA7124085 |
402 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389230918 rs770298539 |
402 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7124087 rs773382441 |
404 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7124088 rs763408377 |
406 | D>E | No |
ExAC ClinGen |
|
|
rs1339397982 CA389231161 |
407 | Y>C | No |
TOPMed ClinGen |
|
|
rs771012127 CA7124089 |
408 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA257858641 rs924610199 |
409 | W>L | No |
ClinGen TOPMed |
|
|
rs967416108 CA257858643 |
414 | K>R | No |
TOPMed ClinGen |
|
|
rs143106541 CA7124090 CA7124091 |
415 | K>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs940275801 CA257858735 |
416 | A>G | No |
TOPMed gnomAD ClinGen |
|
|
CA389231547 rs940275801 |
416 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7124114 rs200269782 COSM954888 |
418 | R>Q | endometrium [Cosmic] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs765034018 CA7124113 |
418 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs967341604 CA257858742 |
424 | G>A | No |
Ensembl ClinGen |
|
|
CA7124116 rs377124544 |
426 | S>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1459740670 CA389231825 |
427 | S>C | No |
ClinGen TOPMed |
|
|
rs1431693712 CA389231844 |
428 | L>S | No |
ClinGen gnomAD |
|
|
rs1468389390 CA389231873 |
429 | M>V | No |
gnomAD ClinGen |
|
|
rs1174036102 CA389231911 |
430 | T>S | No |
ClinGen gnomAD |
|
|
rs145688195 CA7124119 |
432 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754562633 CA7124118 |
432 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 433 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778109330 CA7124122 |
435 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM954889 rs1390286215 CA389232044 |
435 | G>R | kidney Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1283711185 CA389232121 |
438 | H>R | No |
ClinGen TOPMed |
|
|
rs1283054662 CA389232142 |
439 | T>I | No |
gnomAD ClinGen |
|
|
rs757546153 CA7124124 |
439 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480378992 CA389232186 |
442 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA389232194 rs1210538041 |
443 | C>G | No |
ClinGen gnomAD |
|
|
COSM1369287 rs1188300710 CA389232224 |
444 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1271095636 CA389232220 |
444 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA389232316 rs1173207182 |
449 | H>N | No |
ClinGen TOPMed |
|
|
rs1429674606 CA389232332 |
449 | H>R | No |
TOPMed ClinGen |
|
| TCGA novel | 450 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389232364 rs1419583428 |
451 | T>S | No |
ClinGen TOPMed |
|
|
CA389232367 rs1476978968 |
452 | G>S | No |
gnomAD ClinGen |
|
|
rs1180834682 CA389232426 |
454 | Q>H | No |
ClinGen TOPMed |
|
|
CA389232438 rs1594340210 |
455 | F>C | No |
Ensembl ClinGen |
|
|
rs1303233102 CA389232460 |
456 | I>M | No |
gnomAD ClinGen |
|
| TCGA novel | 458 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766231446 CA7124133 |
460 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs774096204 CA7124134 |
465 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1245362873 CA389234247 |
469 | D>G | No |
gnomAD ClinGen |
|
|
rs143139674 CA7124149 |
469 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA389234304 rs1284997270 |
472 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7124152 rs770809463 |
478 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 478 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389234492 rs1414584071 |
480 | T>A | No |
gnomAD ClinGen |
|
|
CA389234518 rs1594342007 |
481 | N>D | No |
ClinGen Ensembl |
|
|
rs774324852 CA7124153 |
481 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297015208 CA389234541 |
482 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA389234585 rs1276218632 |
484 | A>S | No |
ClinGen TOPMed |
|
|
CA257859175 rs368988267 |
485 | C>Y | No |
ClinGen ESP |
|
|
CA389234688 rs1337704140 |
487 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1182483204 CA389234690 |
487 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA389234707 rs1407998973 |
488 | D>G | No |
ClinGen gnomAD |
|
|
CA7124156 rs139960788 |
489 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1156481725 CA389234808 |
491 | W>* | No |
ClinGen gnomAD |
|
|
CA389234976 rs1328130634 |
496 | E>K | No |
ClinGen TOPMed |
|
|
rs1470493413 CA389235026 |
497 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1372458104 CA389235058 |
498 | I>T | No |
ClinGen TOPMed |
|
|
CA7124157 rs760313062 |
500 | S>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA389235081 rs760313062 |
500 | S>R | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 503 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7124174 rs760414131 |
503 | W>R | No |
ExAC gnomAD ClinGen |
|
|
CA389235991 rs1196134370 |
504 | D>G | No |
gnomAD ClinGen |
|
|
CA7124175 rs373071680 |
505 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373071680 CA7124176 |
505 | G>W | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1566594926 CA389236077 |
507 | L>P | No |
Ensembl ClinGen |
|
|
rs764900078 CA7124178 |
508 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs749968110 CA7124179 |
508 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 510 | W>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7124180 rs763487731 |
510 | W>C | No |
ExAC gnomAD ClinGen |
|
|
rs1352331472 CA389236182 |
511 | Q>R | No |
TOPMed ClinGen |
|
|
rs111766644 CA257859215 CA7124181 |
512 | Y>* | No |
ExAC gnomAD ClinGen |
|
|
CA7124182 rs149432550 |
513 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376302649 CA257859221 |
513 | R>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs376302649 CA7124183 |
513 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1594342334 CA389236299 |
514 | Q>P | No |
Ensembl ClinGen |
|
|
CA7124185 rs144766013 |
515 | A>T | No |
ESP ExAC ClinGen |
|
|
CA7124186 rs756170335 |
518 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs892722164 CA257859231 |
520 | D>E | No |
TOPMed gnomAD ClinGen |
|
|
CA389236547 rs1407061633 |
522 | M>V | No |
ClinGen gnomAD |
|
|
rs1379930115 CA389236576 |
523 | P>L | No |
ClinGen gnomAD |
|
|
CA389236589 rs1301526048 |
524 | E>Q | No |
gnomAD ClinGen |
|
|
rs370431124 CA7124187 |
530 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs140074757 CA7124188 |
530 | S>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs200456732 CA7124189 |
530 | S>R | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA7124191 rs746796439 |
531 | A>T | No |
ExAC gnomAD ClinGen |
|
|
CA7124193 rs776340864 |
536 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389236976 rs1224303189 |
537 | Q>E | No |
ClinGen gnomAD |
|
|
CA7124194 rs747747703 |
537 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs368392183 CA7124195 |
538 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772810216 CA7124196 |
539 | S>C | No |
ExAC gnomAD ClinGen |
|
|
CA389237066 rs1451877995 |
540 | T>A | No |
ClinGen TOPMed |
|
|
rs1168498310 CA389237123 |
541 | P>L | No |
gnomAD ClinGen |
|
|
rs762575916 CA7124197 |
541 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs149279101 COSM109565 CA257859247 |
543 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs766890558 CA7124198 |
547 | Q>Q | No |
ExAC gnomAD ClinGen |
No associated diseases with Q8TEB1
8 regional properties for Q8TEB1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SOCS box domain | 362 - 406 | IPR001496 |
| repeat | WD40 repeat | 83 - 186 | IPR001680-1 |
| repeat | WD40 repeat | 188 - 325 | IPR001680-2 |
| repeat | WD40 repeat | 326 - 363 | IPR001680-3 |
| conserved_site | WD40 repeat, conserved site | 171 - 185 | IPR019775 |
| repeat | G-protein beta WD-40 repeat | 128 - 142 | IPR020472-1 |
| repeat | G-protein beta WD-40 repeat | 171 - 185 | IPR020472-2 |
| repeat | G-protein beta WD-40 repeat | 256 - 270 | IPR020472-3 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| Cul4-RING E3 ubiquitin ligase complex | A ubiquitin ligase complex in which a cullin from the Cul4 family and a RING domain protein form the catalytic core; substrate specificity is conferred by an adaptor protein. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| proteasome-mediated ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0V8J1 | WSB2 | WD repeat and SOCS box-containing protein 2 | Bos taurus (Bovine) | PR |
| Q6ZMY6 | WDR88 | WD repeat-containing protein 88 | Homo sapiens (Human) | PR |
| Q8N157 | AHI1 | Jouberin | Homo sapiens (Human) | PR |
| Q9NYS7 | WSB2 | WD repeat and SOCS box-containing protein 2 | Homo sapiens (Human) | PR |
| Q5F201 | Cfap52 | Cilia- and flagella-associated protein 52 | Mus musculus (Mouse) | PR |
| O54929 | Wsb2 | WD repeat and SOCS box-containing protein 2 | Mus musculus (Mouse) | PR |
| Q8K3E5 | Ahi1 | Jouberin | Mus musculus (Mouse) | PR |
| A6H603 | Nwd1 | NACHT domain- and WD repeat-containing protein 1 | Mus musculus (Mouse) | PR |
| Q23256 | wdr-5.3 | WD repeat-containing protein wdr-5.3 | Caenorhabditis elegans | PR |
| Q94AI7 | TPL | Protein TOPLESS | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q0WV90 | TPR1 | Topless-related protein 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LRZ0 | TPR2 | Topless-related protein 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSRNSSSAG | SGSGDPSEGL | PRRGAGLRRS | EEEEEEDEDV | DLAQVLAYLL | RRGQVRLVQG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GGAANLQFIQ | ALLDSEEEND | RAWDGRLGDR | YNPPVDATPD | TRELEFNEIK | TQVELATGQL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GLRRAAQKHS | FPRMLHQRER | GLCHRGSFSL | GEQSRVISHF | LPNDLGFTDS | YSQKAFCGIY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SKDGQIFMSA | CQDQTIRLYD | CRYGRFRKFK | SIKARDVGWS | VLDVAFTPDG | NHFLYSSWSD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YIHICNIYGE | GDTHTALDLR | PDERRFAVFS | IAVSSDGREV | LGGANDGCLY | VFDREQNRRT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LQIESHEDDV | NAVAFADISS | QILFSGGDDA | ICKVWDRRTM | REDDPKPVGA | LAGHQDGITF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IDSKGDARYL | ISNSKDQTIK | LWDIRRFSSR | EGMEASRQAA | TQQNWDYRWQ | QVPKKAWRKL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KLPGDSSLMT | YRGHGVLHTL | IRCRFSPIHS | TGQQFIYSGC | STGKVVVYDL | LSGHIVKKLT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NHKACVRDVS | WHPFEEKIVS | SSWDGNLRLW | QYRQAEYFQD | DMPESEECAS | APAPVPQSST |
| PFSSPQ |