Q8WU17
PR
Gene name |
RNF139 |
Protein name |
E3 ubiquitin-protein ligase RNF139 |
Names |
RING finger protein 139, RING-type E3 ubiquitin transferase RNF139, Translocation in renal carcinoma on chromosome 8 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11236 |
EC number |
2.3.2.27: Aminoacyltransferases |
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 Q8WU17
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8WU17-F1 | Predicted | AlphaFoldDB |
435 variants for Q8WU17
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA372159805 rs1489415563 |
2 | A>P | No |
ClinGen gnomAD |
|
|
rs776826637 CA4870620 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200918297 CA372159818 |
4 | V>L | No |
ClinGen gnomAD |
|
|
CA4870622 rs770165517 |
5 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761458320 CA185310337 |
6 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362037178 CA372159832 |
6 | P>L | No |
ClinGen TOPMed |
|
|
rs761458320 CA4870624 |
6 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546566054 CA4870627 |
7 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546566054 CA4870626 |
7 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 7 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4870625 rs113915762 |
7 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490741775 CA372159854 |
10 | Q>E | No |
ClinGen TOPMed |
|
|
CA372159863 rs1586518927 |
11 | V>G | No |
ClinGen Ensembl |
|
|
rs766303977 CA4870628 |
11 | V>M | No |
ClinGen ExAC |
|
|
rs1027643697 CA185310370 COSM3698822 |
12 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA4870630 rs754765816 |
15 | H>Q | No |
ClinGen ExAC |
|
|
CA4870631 rs778858468 |
16 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4870632 rs752961014 |
17 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240014335 CA372159926 |
20 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372159930 rs1355929139 |
21 | A>V | No |
ClinGen gnomAD |
|
|
CA4870634 rs143715992 |
22 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 22 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211362950 CA372159943 |
23 | E>V | No |
ClinGen gnomAD |
|
|
rs747148481 CA4870635 |
24 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770946748 CA4870636 |
26 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA372159972 rs1586519004 |
28 | V>G | No |
ClinGen Ensembl |
|
|
rs759428056 CA185310482 |
31 | L>F | No |
ClinGen Ensembl |
|
|
CA372159989 rs1458760585 |
31 | L>P | No |
ClinGen gnomAD |
|
|
CA185310477 rs759428056 |
31 | L>V | No |
ClinGen Ensembl |
|
|
CA372159996 rs1290368771 |
32 | Y>F | No |
ClinGen TOPMed |
|
|
CA372159992 rs1295691535 |
32 | Y>H | No |
ClinGen gnomAD |
|
|
rs747777638 CA4870641 |
33 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA372160007 rs1446769003 |
34 | I>F | No |
ClinGen gnomAD |
|
|
rs974933021 CA185310499 |
34 | I>T | No |
ClinGen TOPMed |
|
|
CA372160005 rs1446769003 |
34 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 35 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372160013 rs1332624387 |
35 | D>Y | No |
ClinGen gnomAD |
|
|
rs772771107 CA4870643 |
37 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA4870645 rs369379159 |
39 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369379159 CA4870644 |
39 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA185310547 rs369379159 |
39 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372160051 rs1563628536 |
41 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs974644387 CA185310575 |
42 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1239863104 CA372160063 |
43 | D>N | No |
ClinGen gnomAD |
|
|
rs1030087140 CA185310578 |
45 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs140507881 CA372160083 |
45 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372160100 rs1168075176 |
48 | R>G | No |
ClinGen gnomAD |
|
|
CA4870648 rs765108607 |
48 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4870649 rs145520695 |
50 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4870650 rs758513834 |
50 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185310623 rs983604824 |
51 | I>M | No |
ClinGen gnomAD |
|
|
rs751752861 CA4870652 |
53 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757303169 CA4870653 |
53 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4870654 rs781135935 |
54 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA372160137 rs1161359031 |
54 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA372160138 rs1161359031 |
54 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4870655 rs746367794 |
55 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1339604906 CA372160143 |
55 | I>N | No |
ClinGen gnomAD |
|
|
rs148421184 CA4870657 |
57 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372160156 rs148421184 |
57 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 58 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372160535 rs1486531159 |
61 | G>V | No |
ClinGen gnomAD |
|
|
CA185319943 rs1009371670 |
62 | V>I | No |
ClinGen Ensembl |
|
|
CA185319957 rs566684473 |
66 | S>G | No |
ClinGen Ensembl |
|
|
rs1359952032 CA372160582 |
69 | L>V | No |
ClinGen gnomAD |
|
|
CA4870682 rs770535886 |
73 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4870683 rs780814940 |
74 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA185320014 rs745327555 |
79 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4870685 rs769447121 |
79 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA4870684 rs745327555 |
79 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs775509858 CA4870686 |
81 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 82 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs954383233 CA185320056 |
83 | S>G | No |
ClinGen TOPMed |
|
|
CA372160683 rs1353785002 COSM373352 |
84 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1262183014 CA372160679 |
84 | S>P | No |
ClinGen TOPMed |
|
|
CA372160687 rs1563632254 |
85 | A>D | No |
ClinGen Ensembl |
|
|
CA372160720 rs1241957715 |
90 | A>G | No |
ClinGen gnomAD |
|
|
CA372160724 rs1287225683 |
91 | T>A | No |
ClinGen gnomAD |
|
|
rs1221238676 CA372160737 |
93 | V>A | No |
ClinGen gnomAD |
|
| rs1177295699 | 97 | Y>* | No | gnomAD | |
|
rs1443504787 CA372160771 |
98 | Y>D | No |
ClinGen TOPMed |
|
|
rs762066388 CA4870693 |
99 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA4870694 rs767688606 |
99 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411834348 CA372160826 |
106 | Y>H | No |
ClinGen gnomAD |
|
|
CA372160833 rs750665838 |
107 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4870695 rs750665838 |
107 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387219500 CA372160847 |
109 | Y>C | No |
ClinGen TOPMed |
|
|
CA4870696 rs760692884 |
109 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
COSM1755559 CA372160855 rs1396381530 |
110 | N>S | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4870697 rs766455684 |
111 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372160870 rs1418532414 |
113 | A>S | No |
ClinGen gnomAD |
|
|
CA4870700 rs779310914 |
115 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4870701 rs753041249 |
118 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1563632302 CA372160911 |
119 | L>P | No |
ClinGen Ensembl |
|
|
rs200759944 COSM1223900 CA4870703 |
121 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs769363014 CA4870705 |
123 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372160940 rs1433325935 |
124 | P>L | No |
ClinGen gnomAD |
|
|
rs200850581 CA185320210 |
125 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 126 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372160963 rs1235776233 |
128 | M>V | No |
ClinGen gnomAD |
|
|
CA4870708 rs768518283 |
130 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA372160986 rs1277723168 |
131 | I>T | No |
ClinGen TOPMed |
|
|
CA4870711 rs771868227 |
132 | V>A | No |
ClinGen ExAC |
|
|
rs533227376 CA4870710 |
132 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169948307 CA372161004 |
134 | Q>H | No |
ClinGen gnomAD |
|
|
CA4870714 rs766435308 |
137 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA4870718 rs760055103 |
142 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185320285 rs373974644 |
145 | L>F | No |
ClinGen ESP |
|
|
rs200977473 CA372161087 |
148 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200977473 CA4870720 |
148 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4870722 rs778286288 |
149 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs758345551 CA185320299 COSM3834021 |
150 | I>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA372161108 rs1276605667 |
151 | Y>C | No |
ClinGen gnomAD |
|
|
CA4870724 rs140557634 |
151 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779592058 CA4870725 |
153 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA372161129 rs1259857133 |
154 | L>S | No |
ClinGen gnomAD |
|
|
CA4870727 rs754541446 |
159 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372161171 rs1167036699 |
160 | L>F | No |
ClinGen TOPMed |
|
|
CA372161178 rs1192624664 |
161 | V>A | No |
ClinGen gnomAD |
|
|
CA4870729 rs748082787 |
163 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1463478213 CA372161185 |
163 | V>I | No |
ClinGen gnomAD |
|
|
rs1314384061 CA372161224 |
169 | E>* | No |
ClinGen gnomAD |
|
|
CA372161268 rs1193814222 |
175 | R>T | No |
ClinGen TOPMed |
|
| TCGA novel | 176 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4870733 rs150447470 |
178 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372161309 rs1231340364 |
181 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372161321 rs1442582763 |
183 | S>F | No |
ClinGen TOPMed |
|
|
rs1194399262 CA372161347 |
187 | T>I | No |
ClinGen TOPMed |
|
|
CA4870735 rs556324240 |
189 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4870736 rs138231408 |
190 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4870738 rs763621894 |
191 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4870740 rs368019902 |
198 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1335355722 CA372161419 |
199 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 200 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757729558 CA4870741 |
204 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA372161471 rs1563632415 |
206 | R>L | No |
ClinGen Ensembl |
|
| TCGA novel | 206 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754379363 CA4870744 |
207 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1175011071 CA372161474 |
207 | Y>N | No |
ClinGen gnomAD |
|
|
CA4870745 rs778555631 |
210 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4870746 rs559101963 |
214 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1454724 CA372161527 rs1411946076 |
215 | M>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1384258904 CA372161538 |
216 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 217 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4870747 rs372252568 COSM1095889 |
217 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1351519953 CA372161561 |
220 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1460517996 CA372161570 |
221 | L>S | No |
ClinGen TOPMed |
|
|
rs776655219 CA4870752 |
224 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746104363 CA4870753 |
225 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA372161617 rs1183031679 |
227 | D>E | No |
ClinGen TOPMed |
|
|
rs35970900 CA185320538 |
228 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs35970900 CA185320536 |
228 | T>R | No |
ClinGen Ensembl |
|
|
rs1266361732 CA372161628 |
229 | W>L | No |
ClinGen gnomAD |
|
|
rs1195361262 CA372161642 |
231 | R>K | No |
ClinGen gnomAD |
|
|
rs1377953029 CA585275897 |
232 | I>* | No |
ClinGen gnomAD |
|
|
rs867861516 CA185320557 |
233 | R>C | No |
ClinGen Ensembl |
|
|
CA185320560 rs994343603 |
233 | R>H | No |
ClinGen TOPMed |
|
|
CA185320584 rs1029860253 |
235 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs764736723 CA4870757 |
237 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372161681 rs1161857992 |
237 | I>T | No |
ClinGen gnomAD |
|
|
rs763530503 CA4870756 |
237 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4870759 rs775022851 |
239 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4870758 rs775022851 |
239 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372161689 rs767929334 |
239 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4870760 rs767929334 |
239 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753429666 CA185320664 |
240 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4870761 rs753429666 |
240 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA185320665 rs755520245 |
241 | F>L | No |
ClinGen Ensembl |
|
|
CA4870762 rs754721502 |
245 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA372161729 rs1308030675 |
246 | V>L | No |
ClinGen gnomAD |
|
|
CA372161735 rs1318990359 |
247 | T>A | No |
ClinGen gnomAD |
|
|
rs764633307 CA4870763 |
247 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs970238121 CA185320692 COSM3432098 |
248 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1264654404 CA372161752 |
250 | A>T | No |
ClinGen gnomAD |
|
|
rs752247458 CA4870765 |
251 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA372161785 rs1461096384 |
255 | Y>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 256 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372161796 rs1325966407 |
256 | I>T | No |
ClinGen gnomAD |
|
|
CA4870766 rs757931552 |
258 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA4870768 rs751508560 |
259 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185320748 rs955661293 |
259 | M>V | No |
ClinGen TOPMed |
|
|
rs1008960968 CA185320759 |
261 | N>D | No |
ClinGen TOPMed |
|
|
rs200148156 CA4870769 |
261 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1563632509 CA372161850 |
264 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 264 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421706750 CA372161855 |
265 | S>A | No |
ClinGen gnomAD |
|
|
rs1563632511 CA372161859 |
265 | S>F | No |
ClinGen Ensembl |
|
|
rs1563632514 CA372161866 |
266 | F>L | No |
ClinGen Ensembl |
|
|
rs980143966 CA185320792 |
267 | F>I | No |
ClinGen Ensembl |
|
|
rs1167801008 CA372161879 |
268 | I>T | No |
ClinGen gnomAD |
|
|
rs1362421389 CA372161898 |
271 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA185320841 rs964786577 |
272 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 273 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770103223 CA4870774 |
274 | W>* | No |
ClinGen ExAC |
|
|
rs781774668 CA185320856 |
275 | D>G | No |
ClinGen Ensembl |
|
|
CA372161928 rs1465528181 |
275 | D>N | No |
ClinGen gnomAD |
|
|
CA372161960 rs1375550906 |
279 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs749333028 CA4870776 |
281 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4870777 rs768870665 |
284 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs771238455 CA185320871 |
286 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4870781 rs773677252 |
291 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs759083089 CA4870782 |
292 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1467542157 CA372162044 |
293 | G>C | No |
ClinGen TOPMed |
|
|
CA372162113 rs1446495547 |
303 | H>R | No |
ClinGen TOPMed |
|
|
CA372162111 rs1222453990 |
303 | H>Y | No |
ClinGen TOPMed |
|
|
rs752365671 CA4870784 |
305 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372162134 rs1190555295 |
306 | G>E | No |
ClinGen gnomAD |
|
|
rs1275094324 CA372162149 |
309 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs530717801 CA185320888 |
311 | A>V | No |
ClinGen 1000Genomes |
|
|
rs1421873853 CA372162198 |
316 | T>I | No |
ClinGen gnomAD |
|
|
rs947286369 CA185320890 |
319 | D>H | No |
ClinGen Ensembl |
|
|
CA372162227 rs1428457950 |
320 | D>G | No |
ClinGen gnomAD |
|
|
CA185320915 rs1043019560 |
320 | D>N | No |
ClinGen TOPMed |
|
|
CA372162240 rs1171652818 |
322 | R>C | No |
ClinGen gnomAD |
|
|
COSM203210 rs770207318 CA185320925 |
322 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1368764181 CA372162253 |
324 | G>A | No |
ClinGen TOPMed |
|
|
rs1467161587 CA372162258 |
325 | F>C | No |
ClinGen gnomAD |
|
|
rs1586527137 CA372162267 |
326 | V>A | No |
ClinGen Ensembl |
|
|
CA372162274 rs1464597654 |
327 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 328 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200118153 CA185320947 |
328 | P>H | No |
ClinGen Ensembl |
|
| rs1295189379 | 330 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312550557 CA372162302 |
332 | F>L | No |
ClinGen gnomAD |
|
|
rs1163056486 CA372162312 |
333 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 333 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1315520758 CA372162373 |
342 | G>E | No |
ClinGen TOPMed |
|
|
rs757276296 CA4870788 |
346 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs757276296 CA4870789 |
346 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA372162407 rs750271436 |
347 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 348 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185735403 CA372162426 |
350 | I>M | No |
ClinGen Ensembl |
|
|
rs780366891 CA4870792 |
350 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4870794 rs768854208 |
352 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4870793 rs749525774 |
352 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 355 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372162465 rs1485744254 |
356 | M>T | No |
ClinGen gnomAD |
|
|
rs1452925083 CA372162462 |
356 | M>V | No |
ClinGen TOPMed |
|
|
rs1427946163 CA372162473 |
357 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs772677869 CA4870797 |
363 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4870798 rs773627415 |
368 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1431551268 CA372162570 |
371 | T>I | No |
ClinGen gnomAD |
|
|
rs1485794708 CA372162577 |
372 | D>E | No |
ClinGen TOPMed |
|
|
rs1395712000 CA372162585 |
374 | V>I | No |
ClinGen gnomAD |
|
|
CA4870800 rs761048529 |
376 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs771293980 CA4870802 |
379 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218527936 CA372162635 |
381 | S>C | No |
ClinGen gnomAD |
|
|
rs372670097 CA185321164 |
382 | H>P | No |
ClinGen ESP TOPMed |
|
|
rs1349334368 CA372162644 |
383 | V>M | No |
ClinGen gnomAD |
|
|
rs762658176 CA4870804 |
384 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA4870805 rs763580515 |
387 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs751128494 CA4870806 |
387 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372162684 rs1427521286 |
389 | H>R | No |
ClinGen gnomAD |
|
|
CA372162700 rs1244153186 |
391 | P>R | No |
ClinGen gnomAD |
|
|
rs142948801 CA4870807 |
394 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376817114 CA4870808 |
394 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 395 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 395 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4870810 rs147220970 |
401 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 406 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372162798 rs772672763 |
407 | S>N | No |
ClinGen TOPMed |
|
|
rs772672763 CA185321207 |
407 | S>T | No |
ClinGen TOPMed |
|
|
CA4870812 rs754101559 |
408 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4870813 rs754101559 |
408 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372162846 rs1443907767 |
414 | Y>H | No |
ClinGen gnomAD |
|
|
CA185321266 rs34191543 |
417 | N>K | No |
ClinGen Ensembl |
|
|
CA372162868 rs1225063153 |
417 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA372162886 rs777035352 |
420 | L>V | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA4870821 rs748916386 |
421 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA4870822 rs768336846 |
422 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1586527481 CA372162914 |
424 | T>I | No |
ClinGen Ensembl |
|
|
rs1469912882 CA372162917 |
425 | A>T | No |
ClinGen gnomAD |
|
|
rs1459365344 CA372162930 |
426 | F>L | No |
ClinGen gnomAD |
|
|
rs1176892478 CA372162935 |
427 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 429 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1179102400 CA372162961 |
431 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 434 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372162981 rs1325149424 |
434 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372162982 rs1325149424 |
434 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 437 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200088546 CA185321307 |
438 | L>F | No |
ClinGen 1000Genomes gnomAD |
|
|
rs757614523 CA4870826 |
442 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4870827 rs757614523 |
442 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268176319 CA372163041 |
443 | L>F | No |
ClinGen gnomAD |
|
|
CA185321329 rs960365370 |
445 | M>L | No |
ClinGen TOPMed |
|
|
CA185321328 rs960365370 |
445 | M>V | No |
ClinGen TOPMed |
|
|
rs371938644 CA4870829 COSM1454727 |
446 | I>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1210496355 CA372163086 |
450 | Y>H | No |
ClinGen TOPMed |
|
|
CA372163101 rs1306894486 |
452 | V>I | No |
ClinGen TOPMed |
|
|
rs765511745 CA4870831 |
454 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA372163133 rs1256042872 |
456 | K>R | No |
ClinGen TOPMed |
|
|
CA4870832 rs752871820 |
457 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA372163151 rs1194528705 |
459 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA372163150 rs1194528705 COSM3432099 |
459 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1438463775 CA372163184 |
463 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1095892 CA185321352 rs968773077 |
464 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4870834 rs777779465 |
465 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461779290 CA372163211 |
468 | G>R | No |
ClinGen TOPMed |
|
|
CA4870836 rs757808965 |
471 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 472 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4870837 rs781504288 |
479 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA4870838 rs746190054 |
484 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372163368 rs1466264409 |
490 | E>Q | No |
ClinGen TOPMed |
|
|
CA372163379 rs1185839887 |
491 | S>L | No |
ClinGen TOPMed |
|
|
rs1411138818 CA372163393 |
493 | S>R | No |
ClinGen gnomAD |
|
|
CA372163404 rs1213137359 |
495 | I>V | No |
ClinGen gnomAD |
|
|
CA4870840 rs150765211 |
496 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1182272289 CA372163414 |
497 | A>T | No |
ClinGen TOPMed |
|
|
rs771599447 CA4870842 |
498 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4870843 rs772648340 |
499 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4870845 rs766381126 |
514 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA372163562 rs1586527727 |
517 | K>E | No |
ClinGen Ensembl |
|
|
COSM241434 CA372163604 rs1485479428 |
522 | R>H | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs759350192 CA4870847 |
522 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs911111083 CA185321494 |
523 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA372163621 rs1487181625 |
525 | A>G | No |
ClinGen gnomAD |
|
|
CA4870849 rs752955889 |
526 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1586527767 CA372163647 |
529 | I>N | No |
ClinGen Ensembl |
|
|
CA372163662 rs1476330668 |
531 | S>L | No |
ClinGen gnomAD |
|
|
CA372163676 rs1170324470 |
533 | P>L | No |
ClinGen gnomAD |
|
|
CA4870850 rs763140663 |
535 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs764209532 CA4870851 |
536 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA372163698 rs1563632958 |
537 | G>R | No |
ClinGen Ensembl |
|
|
CA372163707 rs1272024651 |
538 | S>N | No |
ClinGen TOPMed |
|
|
COSM291488 CA185321549 rs767433355 |
539 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA372163713 rs767433355 |
539 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs369274872 CA4870853 |
539 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369274872 CA372163714 |
539 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4870854 rs781628113 |
541 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA372163726 rs1327560711 |
541 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 542 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433442511 CA372163730 |
542 | E>Q | No |
ClinGen gnomAD |
|
|
rs201310310 CA185321559 |
544 | N>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA372163758 rs1235378441 |
545 | D>E | No |
ClinGen gnomAD |
|
|
CA372163761 rs756468360 |
546 | V>I | No |
ClinGen ExAC |
|
|
rs756468360 COSM1623582 CA4870856 |
546 | V>L | liver [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs1348333148 CA372163777 |
548 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4870858 rs747815996 |
549 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771664220 CA4870859 |
551 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1241923135 CA372163801 |
552 | H>N | No |
ClinGen gnomAD |
|
|
rs770581918 CA4870862 |
556 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776647888 CA4870863 |
557 | S>P | No |
ClinGen ExAC TOPMed |
|
|
rs1378066473 CA372163848 |
559 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4870865 rs775467776 |
559 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763202390 CA4870867 |
560 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763202390 CA372163853 |
560 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775196100 CA4870866 |
560 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 561 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4870868 rs764181541 |
562 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs751801288 CA4870869 |
562 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4870871 rs767651691 |
564 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA372163890 rs1334228025 |
566 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 567 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372163916 rs1252274037 |
569 | A>E | No |
ClinGen TOPMed |
|
|
CA185321689 rs780437521 |
570 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4870874 rs780437521 |
570 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185321757 rs189596016 |
573 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4870876 rs189596016 |
573 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760408365 CA4870875 |
573 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs369632760 CA185321763 |
577 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
rs777236399 CA372163968 |
578 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1468568638 CA372163972 |
578 | I>S | No |
ClinGen gnomAD |
|
|
rs777236399 CA4870877 |
578 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 579 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 581 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4870879 rs770557238 |
584 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763957379 CA4870878 |
584 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA372164022 rs1265726650 |
585 | C>S | No |
ClinGen TOPMed |
|
|
CA4870880 rs539766686 |
586 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1364802790 CA372164048 |
589 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372164050 rs1364802790 |
589 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4870882 rs373400660 |
590 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762605975 CA372164066 |
591 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs918652745 CA185321797 |
591 | I>V | No |
ClinGen TOPMed |
|
|
CA4870885 rs145952657 |
592 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4870887 rs377572235 |
594 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372164091 rs1402344792 |
595 | I>V | No |
ClinGen gnomAD |
|
|
CA4870888 rs139815535 CA4870889 |
596 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1035814003 CA185321869 |
597 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs773321905 CA4870890 |
598 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA4870891 rs143124630 |
601 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1335418626 CA372164142 |
603 | N>D | No |
ClinGen gnomAD |
|
|
rs1344412738 CA372164145 |
603 | N>S | No |
ClinGen gnomAD |
|
|
rs1249116976 CA372164149 |
604 | N>H | No |
ClinGen gnomAD |
|
|
CA4870893 rs766749090 |
607 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA372164190 rs1394462324 |
609 | P>L | No |
ClinGen TOPMed |
|
|
CA372164201 rs1315086378 |
611 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1196075653 CA372164216 |
613 | T>N | No |
ClinGen gnomAD |
|
|
COSM3698685 CA372164224 rs1259822935 |
614 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA372164247 rs1353783067 |
618 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1353783067 CA372164248 |
618 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1232802137 CA372164273 |
621 | A>D | No |
ClinGen gnomAD |
|
|
CA372164275 rs1186290539 |
622 | A>P | No |
ClinGen gnomAD |
|
|
rs765768160 CA4870896 |
623 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs751239898 CA4870898 |
625 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs780816498 CA4870900 |
628 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs755671327 CA4870902 |
630 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142938092 CA4870904 |
631 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372164344 rs1355779558 |
632 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 632 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372164360 rs768324092 |
634 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4870905 rs768324092 |
634 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4870906 rs187665896 |
635 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1486207713 CA372164370 |
636 | D>H | No |
ClinGen gnomAD |
|
|
rs768153449 CA4870907 |
637 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 637 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1010571838 CA185322062 |
638 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1170529952 CA372164404 |
640 | D>G | No |
ClinGen TOPMed |
|
|
CA4870911 rs151086041 |
641 | V>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA185322091 rs772244205 |
641 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4870910 rs772244205 |
641 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 642 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760616461 CA4870912 |
642 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA372164421 rs1563633256 |
643 | R>T | No |
ClinGen Ensembl |
|
|
CA185322123 rs200296709 |
645 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428400956 CA372164451 |
647 | G>A | No |
ClinGen gnomAD |
|
|
CA4870914 rs377503613 |
648 | V>A | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4870917 rs139086540 |
649 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs999290602 CA185322151 |
650 | Q>* | No |
ClinGen TOPMed |
|
|
rs1346373647 CA372164469 |
650 | Q>H | No |
ClinGen TOPMed |
|
|
rs118184842 CA4870918 |
650 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758863491 CA4870919 |
651 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs750103363 CA4870921 |
654 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750103363 CA185322161 |
654 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750103363 CA4870922 |
654 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586528406 CA372164496 |
655 | A>E | No |
ClinGen Ensembl |
|
|
rs564286349 CA185322173 |
655 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA185322188 rs976699173 |
657 | E>K | No |
ClinGen Ensembl |
|
|
rs749159283 CA4870924 |
658 | E>* | No |
ClinGen ExAC |
|
|
rs1554601662 CA4870925 |
660 | N>D | No |
ClinGen Ensembl |
|
|
rs567891432 CA185322238 |
660 | N>K | No |
ClinGen gnomAD |
|
|
rs1586528446 CA372164528 |
660 | N>S | No |
ClinGen Ensembl |
|
|
CA4870927 rs754949811 |
661 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4870928 rs778854936 |
663 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA372164557 CA372164558 rs1212721811 |
664 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
rs1349100767 CA372164552 |
664 | D>Y | No |
ClinGen gnomAD |
No associated diseases with Q8WU17
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.27 | Aminoacyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| Derlin-1 retrotranslocation complex | A protein complex that functions in the retrotranslocation step of ERAD (ER-associated protein degradation), and includes at its core Derlin-1 oligomers forming a retrotranslocation channel. |
| endomembrane system | A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. |
| 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). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| endoplasmic reticulum quality control compartment | A subcompartment of the endoplasmic reticulum in which proteins with improper or incorrect folding accumulate. Enzymes in this compartment direct proteins with major folding problems to translocation to the cytosol and degradation, and proteins with minor folding problems to the ER, to interact with chaperon proteins. |
| integral component of membrane | The component of a 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. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| protease binding | Binding to a protease or a peptidase. |
| signaling receptor activity | Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. |
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues. |
| ubiquitin-like protein transferase activity | Catalysis of the transfer of a ubiquitin-like from one protein to another via the reaction X-ULP + Y --> Y-ULP + X, where both X-ULP and Y-ULP are covalent linkages. ULP represents a ubiquitin-like protein. |
| ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
| zinc ion binding | Binding to a zinc ion (Zn). |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| endoplasmic reticulum mannose trimming | Any protein alpha-1,2-demannosylation that takes place in the endoplasmic reticulum quality control compartment (ERQC). |
| ERAD pathway | The protein catabolic pathway which targets endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. It begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein modifications necessary for correct substrate transfer (e.g. ubiquitination), transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of translation | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| positive regulation of ubiquitin-dependent protein catabolic process | Any process that activates or increases the frequency, rate or extent of ubiquitin-dependent protein catabolic process. |
| protein destabilization | Any process that decreases the stability of a protein, making it more vulnerable to degradative processes or aggregation. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| regulation of ER to Golgi vesicle-mediated transport | Any process that modulates the rate, frequency, or extent of ER to Golgi vesicle-mediated transport, the directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi. |
| regulation of protein processing | Any process that modulates the frequency, rate or extent of protein processing, a protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UKV5 | AMFR | E3 ubiquitin-protein ligase AMFR | Homo sapiens (Human) | PR |
| Q5M7Z0 | RNFT1 | E3 ubiquitin-protein ligase RNFT1 | Homo sapiens (Human) | PR |
| Q9DCN7 | Rnft1 | E3 ubiquitin-protein ligase RNFT1 | Mus musculus (Mouse) | PR |
| Q9R049 | Amfr | E3 ubiquitin-protein ligase AMFR | Mus musculus (Mouse) | PR |
| Q7TMV1 | Rnf139 | E3 ubiquitin-protein ligase RNF139 | Mus musculus (Mouse) | PR |
| P90859 | F26E4.3 | E3 ubiquitin-protein ligase hrd-like protein 1 | Caenorhabditis elegans | PR |
| Q7ZWF4 | rnf145 | RING finger protein 145 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| A5WW08 | chfr | E3 ubiquitin-protein ligase CHFR | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAVGPPQQQ | VRMAHQQVWA | ALEVALRVPC | LYIIDAIFNS | YPDSSQSRFC | IVLQIFLRLF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GVFASSIVLI | LSQRSLFKFY | TYSSAFLLAA | TSVLVNYYAS | LHIDFYGAYN | TSAFGIELLP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RKGPSLWMAL | IVLQLTFGIG | YVTLLQIHSI | YSQLIILDLL | VPVIGLITEL | PLHIRETLLF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TSSLILTLNT | VFVLAVKLKW | FYYSTRYVYL | LVRHMYRIYG | LQLLMEDTWK | RIRFPDILRV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FWLTRVTAQA | TVLMYILRMA | NETDSFFISW | DDFWDLICNL | IISGCDSTLT | VLGMSAVISS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VAHYLGLGIL | AFIGSTEEDD | RRLGFVAPVL | FFILALQTGL | SGLRPEERLI | RLSRNMCLLL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TAVLHFIHGM | TDPVLMSLSA | SHVSSFRRHF | PVLFVSACLF | ILPVLLSYVL | WHHYALNTWL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FAVTAFCVEL | CLKVIVSLTV | YTLFMIDGYY | NVLWEKLDDY | VYYVRSTGSI | IEFIFGVVMF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GNGAYTMMFE | SGSKIRAFMM | CLHAYFNIYL | QAKNGWKTFM | NRRTAVKKIN | SLPEIKGSRL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QEINDVCAIC | YHEFTTSARI | TPCNHYFHAL | CLRKWLYIQD | TCPMCHQKVY | IEDDIKDNSN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VSNNNGFIPP | NETPEEAVRE | AAAESDRELN | EDDSTDCDDD | VQRERNGVIQ | HTGAAAEEFN |
| DDTD |