O00237
PR
Gene name |
RNF103 (ZFP103) |
Protein name |
E3 ubiquitin-protein ligase RNF103 |
Names |
KF-1, hKF-1, RING finger protein 103, RING-type E3 ubiquitin transferase RNF103, Zinc finger protein 103 homolog, Zfp-103 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7844 |
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 O00237
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O00237-F1 | Predicted | AlphaFoldDB |
528 variants for O00237
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs746813128 CA1750672 |
2 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1442706053 CA347578319 |
5 | L>V | No |
ClinGen gnomAD |
|
|
CA347578307 rs1164733389 |
6 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347578312 rs1379263718 |
6 | F>V | No |
ClinGen TOPMed |
|
|
rs757973702 CA1750670 |
7 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA347578300 rs1414848941 |
7 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 7 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1160420211 CA347578293 |
8 | L>F | No |
ClinGen gnomAD |
|
|
rs752444809 CA347578291 |
9 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1750669 rs752444809 |
9 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA347578285 rs1192962506 |
10 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 12 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 13 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs933286365 CA347578253 |
15 | L>V | No |
ClinGen TOPMed |
|
|
rs370597658 CA1750665 |
17 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347578241 rs370597658 |
17 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs563649442 CA1750664 |
18 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1183654102 CA347578228 |
19 | A>G | No |
ClinGen TOPMed |
|
|
CA1750662 rs767972042 |
20 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA347578218 rs1573373874 |
21 | F>V | No |
ClinGen Ensembl |
|
|
CA1750661 rs761907496 |
22 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 23 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 26 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1750659 rs368052547 |
28 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs993461573 CA51422969 |
30 | T>P | No |
ClinGen TOPMed |
|
|
CA1750658 rs763110796 |
30 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373913066 CA1750657 |
32 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1750656 rs373913066 |
32 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747006927 CA1750655 |
33 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1454721415 CA347578114 |
36 | Q>H | No |
ClinGen gnomAD |
|
|
rs747704544 CA1750652 |
40 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs778641337 CA1750651 |
44 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs978260302 CA51422893 |
45 | F>L | No |
ClinGen Ensembl |
|
|
CA347578051 rs1263642216 |
46 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs754379018 CA1750650 |
46 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA347578022 rs1205467284 |
51 | I>V | No |
ClinGen gnomAD |
|
|
CA1750649 rs753391632 |
52 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA347578000 rs1330813972 |
54 | C>G | No |
ClinGen gnomAD |
|
|
rs1212414862 CA347577994 |
55 | R>G | No |
ClinGen gnomAD |
|
|
CA347577986 rs1347923367 |
56 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA347577984 rs1347923367 |
56 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1750647 rs144891585 |
58 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA51422880 rs370207546 |
59 | Y>S | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 60 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347577963 rs1218415255 |
60 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 61 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61731713 CA51422875 |
62 | L>W | No |
ClinGen Ensembl |
|
|
CA347577944 rs1279310248 |
63 | P>S | No |
ClinGen TOPMed |
|
|
CA347577928 rs1381995303 |
65 | K>R | No |
ClinGen gnomAD |
|
|
CA51422864 rs887562546 |
66 | K>N | No |
ClinGen TOPMed |
|
|
CA1750644 rs762264125 |
67 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347577902 rs1183164654 |
69 | R>Q | No |
ClinGen TOPMed |
|
|
CA1750642 rs764385473 |
70 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347577889 rs1170663276 |
71 | L>P | No |
ClinGen gnomAD |
|
|
rs1374873381 CA347577887 |
72 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 75 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1750616 rs558901998 |
77 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA51421232 rs558901998 |
77 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA51421229 rs376258678 |
79 | M>I | No |
ClinGen Ensembl |
|
|
rs749291347 CA51421230 |
79 | M>T | No |
ClinGen Ensembl |
|
|
CA347577826 rs1178340876 |
79 | M>V | No |
ClinGen TOPMed |
|
|
rs976858483 CA51421226 |
81 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 81 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748905534 CA1750613 |
84 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs768609074 COSM3380246 CA347577790 |
84 | Y>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA347577792 rs1334824278 |
84 | Y>H | No |
ClinGen gnomAD |
|
|
CA1750614 rs768609074 |
84 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA1750612 rs775307599 |
85 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA51421201 rs144309518 |
88 | K>E | No |
ClinGen ESP TOPMed |
|
|
CA1750611 rs147202579 |
91 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1389930718 CA347577746 |
91 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs557927966 CA1750610 |
92 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 92 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs557927966 CA51421199 |
92 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347577730 rs1326372159 |
93 | S>F | No |
ClinGen TOPMed |
|
|
rs780637344 CA1750609 COSM197627 |
94 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1750608 rs200290785 |
95 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347577722 rs1161349229 |
95 | S>T | No |
ClinGen gnomAD |
|
|
rs1180420607 CA347577717 |
96 | V>F | No |
ClinGen gnomAD |
|
|
rs778171075 CA1750606 |
98 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1214718700 CA347577695 |
99 | T>N | No |
ClinGen gnomAD |
|
|
rs778101566 CA51421188 |
100 | N>S | No |
ClinGen TOPMed |
|
|
rs758795491 CA347577676 |
102 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758795491 CA1750605 COSM1232370 |
102 | S>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1368739703 CA347577673 |
102 | S>I | No |
ClinGen TOPMed |
|
|
rs1288379214 CA347577666 |
103 | G>D | No |
ClinGen gnomAD |
|
|
CA1750603 rs375824820 |
105 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752856533 CA1750604 |
105 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755258807 CA1750602 |
106 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs763929414 CA1750598 COSM1471359 |
108 | Y>C | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1750599 rs761774528 |
108 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs763929414 CA1750597 |
108 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1321312457 CA347577618 |
110 | L>P | No |
ClinGen gnomAD |
|
|
rs372442483 CA51421146 |
113 | D>Y | No |
ClinGen ESP |
|
|
rs1573370984 CA347577593 |
114 | T>A | No |
ClinGen Ensembl |
|
|
rs1402413079 CA347577589 |
114 | T>I | No |
ClinGen gnomAD |
|
|
rs1402413079 CA347577591 |
114 | T>K | No |
ClinGen gnomAD |
|
|
rs1157542403 CA347577578 |
116 | D>A | No |
ClinGen gnomAD |
|
|
rs762858939 CA1750596 |
116 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs775219184 CA1750595 |
117 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 119 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347577543 rs1573370946 |
121 | V>G | No |
ClinGen Ensembl |
|
|
CA1750594 rs769570215 |
121 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA51421103 rs1043902801 |
122 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1750593 rs373719573 |
122 | Q>H | No |
ClinGen ESP ExAC TOPMed |
|
|
CA347577539 rs1453404773 |
122 | Q>R | No |
ClinGen gnomAD |
|
|
rs765173891 CA1750575 |
125 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1750574 rs374346893 |
125 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA347576526 rs1255467778 |
131 | L>S | No |
ClinGen TOPMed |
|
|
CA1750572 rs148067344 |
133 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1750571 rs200158355 |
134 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1452100398 CA347576475 |
135 | I>M | No |
ClinGen TOPMed |
|
|
CA1750570 rs772774487 |
135 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347576472 rs772553951 |
136 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347576468 rs1234842840 |
136 | H>R | No |
ClinGen gnomAD |
|
|
rs772553951 CA1750569 |
136 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51416630 rs928174463 |
137 | W>G | No |
ClinGen TOPMed |
|
|
CA1750568 rs748702000 |
141 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1037291915 CA51416622 |
144 | V>L | No |
ClinGen Ensembl |
|
|
CA1750566 rs768929442 |
145 | S>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 146 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1573360297 CA347576327 |
147 | F>L | No |
ClinGen Ensembl |
|
|
rs949835797 CA51416595 |
148 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
CA347576309 rs1414792024 |
148 | G>E | No |
ClinGen TOPMed |
|
|
rs949835797 CA347576313 |
148 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1750565 rs371039285 |
150 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1750564 rs780150035 |
151 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs756154832 CA1750563 |
151 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1282362567 CA347576240 |
155 | N>D | No |
ClinGen gnomAD |
|
|
CA1750560 rs758392387 |
155 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1750558 rs765085874 |
156 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA1750557 rs759273431 |
158 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs759273431 CA347576221 |
158 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA347576205 rs1279474590 |
160 | P>A | No |
ClinGen TOPMed |
|
|
rs1165528123 CA347575863 |
162 | Y>N | No |
ClinGen TOPMed |
|
|
CA534629700 rs1209015850 |
162 | Y>T* | No |
ClinGen gnomAD |
|
|
rs766244690 CA1750537 |
163 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1558682367 CA347575824 |
167 | G>D | No |
ClinGen Ensembl |
|
|
CA347575814 rs755692187 CA1750536 |
168 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA347575808 rs1352279971 |
169 | V>G | No |
ClinGen gnomAD |
|
|
CA347575807 rs1318553584 |
170 | R>G | No |
ClinGen TOPMed |
|
|
CA347575804 rs1236096430 |
170 | R>P | No |
ClinGen gnomAD |
|
|
CA347575805 rs1236096430 |
170 | R>Q | No |
ClinGen gnomAD |
|
|
rs113443309 CA51411625 |
171 | S>P | No |
ClinGen Ensembl |
|
|
rs750102758 CA1750535 |
172 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1750533 rs761322271 |
173 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1750532 rs774770197 |
174 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA51411607 rs966337273 |
175 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1419200898 CA534629699 |
176 | S>F | No |
ClinGen gnomAD |
|
|
CA347575766 rs199540812 |
177 | V>F | No |
ClinGen gnomAD |
|
|
rs199540812 CA51411599 |
177 | V>I | No |
ClinGen gnomAD |
|
|
CA347575767 rs199540812 |
177 | V>L | No |
ClinGen gnomAD |
|
|
rs1431702299 CA347575759 |
178 | P>A | No |
ClinGen TOPMed |
|
|
CA347575731 rs1233253738 |
180 | T>I | No |
ClinGen TOPMed |
|
|
CA1750531 rs764506626 |
180 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764506626 CA51411571 |
180 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347575724 rs1187110416 |
181 | S>N | No |
ClinGen gnomAD |
|
|
CA347575722 rs1187110416 |
181 | S>T | No |
ClinGen gnomAD |
|
|
CA347575696 rs1474209104 |
183 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1409855 rs1217472121 CA347575637 |
188 | M>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA1750529 rs200619349 |
188 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1558682281 CA347575621 |
190 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 192 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746047010 CA1750527 |
193 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1235567629 CA347575574 |
193 | S>R | No |
ClinGen TOPMed |
|
|
rs966706490 CA51411557 |
194 | G>E | No |
ClinGen TOPMed |
|
|
rs752277962 CA1750526 |
195 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1750525 rs771078408 |
195 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1471529357 CA347575554 |
196 | K>E | No |
ClinGen TOPMed |
|
|
rs201226159 TCGA novel CA1750523 |
196 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
CA1750524 rs747092202 |
196 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348175770 CA347575537 |
197 | I>T | No |
ClinGen gnomAD |
|
|
CA1750522 rs754847352 |
200 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1231571486 CA347575480 |
203 | F>L | No |
ClinGen gnomAD |
|
|
rs368892771 CA1750521 |
206 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1374095489 CA347575444 |
208 | A>T | No |
ClinGen TOPMed |
|
|
rs1296713166 CA347575440 |
208 | A>V | No |
ClinGen gnomAD |
|
|
rs750016390 CA1750518 |
211 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755321549 CA1750516 |
213 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1278496925 CA347575403 |
214 | I>M | No |
ClinGen TOPMed |
|
|
rs149860510 CA1750515 |
216 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347575366 rs1225187508 |
220 | A>T | No |
ClinGen TOPMed |
|
|
CA347575360 rs1170992772 |
221 | E>K | No |
ClinGen gnomAD |
|
|
rs1464374007 CA347575352 |
222 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA347575351 rs1464374007 |
222 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1374631116 CA347575338 |
223 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1750514 rs763712968 |
224 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1750513 rs763341633 |
225 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA347575322 rs1260868589 |
226 | E>Q | No |
ClinGen gnomAD |
|
|
CA1750512 rs371846352 |
228 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347575302 rs1480611575 |
228 | N>S | No |
ClinGen TOPMed |
|
|
rs765470440 CA1750511 |
229 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs367619971 CA1750509 |
231 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1558682166 CA347575266 |
233 | Y>C | No |
ClinGen Ensembl |
|
|
rs1363339277 CA347575242 |
236 | K>R | No |
ClinGen TOPMed |
|
|
rs771262664 CA1750508 |
237 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1252323175 CA347575230 |
238 | Y>H | No |
ClinGen gnomAD |
|
|
CA1750507 rs761025262 |
239 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347575218 rs1316608506 |
240 | F>L | No |
ClinGen gnomAD |
|
|
rs773134188 CA1750506 |
242 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1160316180 CA347575199 |
242 | N>K | No |
ClinGen TOPMed |
|
|
CA347575178 rs1174682564 |
245 | Q>H | No |
ClinGen TOPMed |
|
|
CA51411434 rs1014010483 |
245 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1390210425 CA347575167 |
247 | P>L | No |
ClinGen TOPMed |
|
|
rs1332244227 CA347575154 |
249 | F>C | No |
ClinGen gnomAD |
|
|
CA51411418 rs17857046 |
251 | S>P | No |
ClinGen Ensembl |
|
|
rs1331807919 CA347575122 |
254 | S>N | No |
ClinGen gnomAD |
|
|
rs1225933808 CA347575113 |
255 | I>M | No |
ClinGen gnomAD |
|
|
CA347575118 rs1421429033 |
255 | I>V | No |
ClinGen gnomAD |
|
|
rs1443751891 CA347575080 |
260 | R>I | No |
ClinGen TOPMed |
|
|
CA1750500 rs781026511 |
261 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1004153938 CA51411391 |
262 | E>* | No |
ClinGen Ensembl |
|
|
CA1750499 rs756884860 |
262 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs751269603 CA1750498 |
264 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777111573 CA1750497 |
267 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1198411817 CA347575031 |
268 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs765845877 CA1750494 |
269 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA1750493 rs192990433 |
270 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371225381 CA1750492 |
273 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1356223081 CA347574990 |
273 | N>S | No |
ClinGen gnomAD |
|
|
rs1439422318 CA347574983 |
274 | K>R | No |
ClinGen TOPMed |
|
|
CA1750490 rs766889810 |
275 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 275 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347574960 rs1445808534 |
277 | M>T | No |
ClinGen gnomAD |
|
|
CA347574938 rs1397912638 |
280 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347574934 rs1405953257 COSM576320 |
281 | G>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1750486 rs151125982 |
282 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774359108 CA1750485 |
282 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA51411314 rs377682850 |
285 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs769708197 CA1750484 |
285 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1750482 rs780937000 |
289 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1255328996 CA347574865 |
291 | R>K | No |
ClinGen gnomAD |
|
|
CA1750481 rs770748077 |
292 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1288271630 CA347574856 |
293 | P>T | No |
ClinGen gnomAD |
|
|
CA1750479 rs370678832 |
296 | I>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1750478 rs757781314 |
297 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA1750477 rs61760875 |
298 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1238301094 CA347574813 |
299 | Y>C | No |
ClinGen gnomAD |
|
|
rs778613314 CA1750476 |
302 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA347574786 rs1330450452 |
303 | T>P | No |
ClinGen gnomAD |
|
|
CA1750472 rs750543175 |
305 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1750470 rs767773623 |
307 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs147608406 CA1750469 |
307 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347574761 rs1397836334 |
307 | I>V | No |
ClinGen TOPMed |
|
|
rs1396452164 CA347574743 |
310 | Q>E | No |
ClinGen gnomAD |
|
|
rs1406055171 CA347574730 |
312 | M>V | No |
ClinGen gnomAD |
|
|
CA1750468 rs774394413 |
314 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs201780922 CA1750467 |
315 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs989413693 CA51411197 |
317 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1370534751 CA347574692 |
317 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 321 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 322 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765625023 CA51411189 |
322 | E>K | No |
ClinGen Ensembl |
|
|
CA347574655 rs1219615308 |
323 | V>I | No |
ClinGen gnomAD |
|
|
rs762137122 CA51411188 |
324 | N>S | No |
ClinGen gnomAD |
|
|
rs1343964859 CA347574620 |
328 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1226427558 CA347574576 |
335 | N>H | No |
ClinGen TOPMed |
|
| TCGA novel | 337 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297103903 CA347574559 |
337 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs958293718 CA51411187 |
337 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1750462 rs772950406 |
339 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA347574533 rs1271394560 |
340 | M>I | No |
ClinGen TOPMed |
|
|
rs1573349762 CA347574539 |
340 | M>V | No |
ClinGen Ensembl |
|
|
rs1376932851 CA347574527 |
341 | D>G | No |
ClinGen gnomAD |
|
|
rs1468090504 CA347574522 |
342 | L>V | No |
ClinGen TOPMed |
|
|
rs771744537 CA1750461 |
343 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA51411162 rs996207000 |
344 | I>F | No |
ClinGen Ensembl |
|
| TCGA novel | 349 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754553526 CA1750458 |
350 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 352 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 352 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780710494 CA1750456 |
352 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA347574449 rs1486669885 |
353 | F>S | No |
ClinGen gnomAD |
|
|
CA1750454 rs750784881 |
354 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1750451 rs751811518 |
363 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1750449 rs763038893 COSM3426743 |
367 | L>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
| TCGA novel | 367 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779542435 | 368 | I>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA51411061 rs1025555780 |
368 | I>V | No |
ClinGen TOPMed |
|
|
CA1750448 rs369237335 |
369 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760589907 CA1750445 |
372 | L>P | No |
ClinGen ExAC |
|
|
CA51411020 rs896869587 |
377 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 378 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA51411011 rs771790880 |
379 | Q>H | No |
ClinGen Ensembl |
|
|
rs1400249432 CA347574276 |
380 | L>P | No |
ClinGen gnomAD |
|
|
rs375660475 CA347574261 |
382 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1414675750 CA347574240 |
385 | S>I | No |
ClinGen gnomAD |
|
|
CA347574203 rs1181347671 |
390 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1471965011 CA347574201 |
390 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774155968 CA1750441 |
392 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 394 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745639713 CA51410978 |
394 | L>S | No |
ClinGen Ensembl |
|
|
CA1750439 rs748802871 |
395 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs924812236 CA347574157 |
396 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA347574161 rs1273516512 |
396 | Y>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 397 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1750438 rs779767603 |
398 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312888633 CA347574142 |
399 | T>A | No |
ClinGen gnomAD |
|
|
CA347574138 rs1343185070 |
399 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA347574139 rs1343185070 |
399 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1262913118 CA347574136 COSM1023523 |
400 | T>A | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 400 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 403 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347574118 rs1227192264 |
403 | A>S | No |
ClinGen gnomAD |
|
|
CA347574120 rs1227192264 |
403 | A>T | No |
ClinGen gnomAD |
|
|
CA347574115 rs1376526802 |
403 | A>V | No |
ClinGen gnomAD |
|
|
rs373564785 CA1750435 |
407 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA51410955 rs950323237 |
408 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 409 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459957191 CA347574063 |
411 | M>L | No |
ClinGen gnomAD |
|
|
CA347574061 rs1350960528 |
411 | M>T | No |
ClinGen gnomAD |
|
|
CA347574054 rs1573349394 |
412 | F>V | No |
ClinGen Ensembl |
|
|
CA347574044 rs1164188214 |
413 | Y>C | No |
ClinGen gnomAD |
|
|
rs757585213 CA1750434 |
414 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751723340 CA347574025 |
416 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347574023 rs1439284982 |
416 | H>Q | No |
ClinGen gnomAD |
|
|
rs751723340 CA1750433 |
416 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347573990 rs1166497688 |
422 | S>G | No |
ClinGen TOPMed |
|
|
rs1405651720 CA347573982 |
423 | T>A | No |
ClinGen gnomAD |
|
|
rs140169526 CA1750430 |
425 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140169526 CA1750429 |
425 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760619252 CA1750428 |
427 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA1750425 rs761701601 |
431 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1750426 rs146315445 |
431 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 432 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768409188 CA1750423 |
434 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 435 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1750422 rs777502442 |
436 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 437 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369833273 CA347573885 CA1750421 |
437 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1355476542 CA347573881 |
438 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1750419 rs138890703 |
440 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375282269 CA1750418 |
440 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375282269 CA347573864 |
440 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs771264231 CA1750416 |
442 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1378642164 CA347573833 |
442 | N>T | No |
ClinGen gnomAD |
|
|
rs747372915 CA1750415 |
443 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 443 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156621132 CA347573816 |
443 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM3840190 CA1750414 rs778172142 |
444 | N>D | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1750413 rs189717834 |
444 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1750410 rs752946051 CA347573760 |
446 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA347573771 rs1480479138 |
446 | E>K | No |
ClinGen gnomAD |
|
|
rs1352543801 CA347573742 |
448 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1486313743 CA347573735 |
448 | N>S | No |
ClinGen TOPMed |
|
|
rs372482310 CA1750409 |
449 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1235921242 CA347573715 |
449 | A>V | No |
ClinGen gnomAD |
|
|
CA1750407 rs201758154 |
450 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150471890 CA1750406 |
450 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1558681544 CA347573687 |
451 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 453 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159129032 CA347573591 |
457 | S>G | No |
ClinGen TOPMed |
|
|
rs1342928971 CA347573587 |
457 | S>N | No |
ClinGen gnomAD |
|
|
rs369497868 CA51410752 |
460 | D>E | No |
ClinGen ESP TOPMed |
|
|
rs751376769 CA1750404 |
466 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA347573468 COSM136259 rs1416584239 |
469 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA347573474 rs1481613185 |
469 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs762655943 CA1750402 |
470 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA1750401 rs775028819 |
472 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1750400 rs755735373 |
472 | S>ASAS* | No |
ClinGen ExAC |
|
|
CA347573430 COSM722969 rs1209220975 |
472 | S>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs376209831 CA347573354 CA1750398 |
476 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1750395 rs191032796 |
477 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1750396 rs191032796 |
477 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347573348 rs191032796 |
477 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347573336 rs778082446 |
478 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1750394 rs778082446 |
478 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1750393 rs539974431 |
479 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755290743 CA1750391 |
480 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1750390 rs755290743 |
480 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480556156 CA347573288 |
481 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 484 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239413917 CA347573235 |
484 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 485 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757228926 CA1750387 |
486 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751577602 CA1750386 |
487 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1279347115 CA347573151 |
489 | F>L | No |
ClinGen gnomAD |
|
|
rs763935235 CA1750385 |
492 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs367817642 CA1750384 |
492 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347573064 rs1302060854 |
494 | A>G | No |
ClinGen gnomAD |
|
|
CA1750382 rs764796509 |
494 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371270453 CA1750381 |
498 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 499 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347572977 rs1171239306 |
500 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA51410541 rs17853383 |
502 | P>H | No |
ClinGen Ensembl |
|
|
rs1286605594 CA347572917 |
504 | I>K | No |
ClinGen gnomAD |
|
|
CA347572886 rs1424046863 |
506 | T>I | No |
ClinGen gnomAD |
|
|
rs1189004344 CA347572892 |
506 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 508 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1750379 rs765917255 |
509 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773720278 CA1750377 |
512 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA347572830 rs1198611257 |
513 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs772352494 CA1750376 |
514 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212438516 CA347572806 |
516 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1750375 rs748453172 |
520 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs61760873 CA1750374 |
523 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs568049987 CA1750372 |
529 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs568049987 CA51410489 |
529 | S>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1465094494 CA347572709 |
530 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA347572693 rs1394177927 |
532 | S>F | No |
ClinGen gnomAD |
|
|
rs780240253 CA1750370 |
534 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 535 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs34541034 CA1750368 |
535 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1750369 rs34541034 |
535 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777857991 CA1750367 |
538 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143477816 COSM197624 CA1750365 |
539 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1750366 rs370483224 |
539 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143477816 CA1750364 |
539 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1402619978 CA347572641 |
540 | E>D | No |
ClinGen TOPMed |
|
|
rs753561953 CA1750362 |
541 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1436589959 CA347572636 |
541 | S>N | No |
ClinGen gnomAD |
|
|
rs760179676 CA1750360 |
542 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1325225537 CA347572616 |
544 | T>A | No |
ClinGen TOPMed |
|
|
CA347572612 rs1464647787 |
544 | T>I | No |
ClinGen gnomAD |
|
|
CA1750358 rs767995579 |
546 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767995579 CA51410441 |
546 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762430144 CA1750357 |
547 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA347572560 rs1268842972 |
552 | E>Q | No |
ClinGen TOPMed |
|
|
CA1750355 rs774548208 |
554 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA51410436 rs962463927 |
559 | S>G | No |
ClinGen Ensembl |
|
|
COSM1223878 rs112654860 CA1750354 |
560 | V>I | Variant assessed as Somatic; 4.635e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA51410422 rs908340353 |
561 | L>F | No |
ClinGen Ensembl |
|
|
rs749420808 CA1750353 |
561 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs550341131 CA347572492 |
562 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347572488 rs1316250464 |
562 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1750352 rs550341131 |
562 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769930719 CA1750351 |
563 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745940221 CA1750350 |
564 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1750349 rs781483242 |
565 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 568 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748159786 CA1750347 |
569 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA51410354 rs372535418 |
571 | C>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1750346 rs537996779 |
574 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347572410 rs1200258085 |
574 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs372592911 CA51410343 |
575 | A>V | No |
ClinGen Ensembl |
|
|
rs1558681266 CA347572389 |
577 | S>L | No |
ClinGen Ensembl |
|
|
CA347572387 rs1454923027 |
578 | C>R | No |
ClinGen gnomAD |
|
|
CA51410338 rs949680243 |
578 | C>Y | No |
ClinGen TOPMed |
|
|
rs1218812053 CA347572371 |
580 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347572364 rs1488743324 |
581 | K>T | No |
ClinGen gnomAD |
|
|
rs1223026449 CA347572344 |
583 | C>W | No |
ClinGen gnomAD |
|
|
CA347572330 rs1348341996 |
585 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 586 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1750343 rs146295636 |
587 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347572315 rs1164326433 |
588 | C>R | No |
ClinGen TOPMed |
|
|
COSM1264332 CA347572313 rs1300758699 |
588 | C>Y | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA347572282 rs1401222602 |
592 | G>E | No |
ClinGen gnomAD |
|
|
rs755818249 CA1750342 |
593 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA347572271 rs1573348323 |
594 | S>A | No |
ClinGen Ensembl |
|
|
CA347572263 rs1173513263 |
595 | Y>C | No |
ClinGen gnomAD |
|
|
CA347572267 rs1427743740 |
595 | Y>H | No |
ClinGen gnomAD |
|
|
CA1750339 rs368827976 |
596 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1427734521 CA347572247 |
597 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1750337 rs764310173 |
598 | Y>C | No |
ClinGen ExAC |
|
|
CA347572242 rs1488631418 |
598 | Y>H | No |
ClinGen gnomAD |
|
|
rs763382114 CA1750336 |
599 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs776064147 CA1750335 |
600 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs770128121 CA1750334 |
601 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776825311 CA1750332 |
603 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347572159 rs1233157831 |
603 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs369874847 CA1750330 |
604 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200139147 CA1750331 |
604 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347572118 rs1219956508 |
605 | E>G | No |
ClinGen gnomAD |
|
|
CA347572107 rs1573348197 |
606 | P>A | No |
ClinGen Ensembl |
|
|
CA347572091 rs1276984215 |
607 | D>G | No |
ClinGen gnomAD |
|
|
rs141896272 CA1750329 |
607 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1000209827 CA51410220 |
611 | W>C | No |
ClinGen Ensembl |
|
|
rs143789506 CA51410210 |
612 | P>L | No |
ClinGen ESP |
|
|
rs139382955 CA1750327 |
613 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141930795 CA1750326 |
615 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755732129 CA1750325 |
616 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA347571930 rs1485329692 |
617 | H>L | No |
ClinGen TOPMed |
|
|
rs780516985 CA1750323 |
619 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1478419489 CA347571885 |
620 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA347571861 rs1423094527 |
622 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA347571855 rs1184839281 |
623 | V>I | No |
ClinGen gnomAD |
|
|
rs11695337 CA347571815 |
626 | E>* | No |
ClinGen TOPMed |
|
|
rs11695337 CA347571817 |
626 | E>Q | No |
ClinGen TOPMed |
|
|
CA1750322 rs375516528 |
630 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1750321 rs751945777 |
630 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1260996454 CA347571758 |
633 | L>F | No |
ClinGen gnomAD |
|
|
rs1292930532 CA347571746 |
635 | M>I | No |
ClinGen gnomAD |
|
|
CA1750317 rs756358507 |
635 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs996885456 CA51410132 |
636 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA347571726 rs1374004003 |
638 | P>R | No |
ClinGen TOPMed |
|
|
rs777018125 CA1750315 |
640 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA347571716 rs1314006904 |
640 | G>R | No |
ClinGen TOPMed |
|
|
rs1342723721 CA347571702 |
642 | V>L | No |
ClinGen TOPMed |
|
|
rs1284377669 CA347571692 |
643 | F>L | No |
ClinGen gnomAD |
|
|
rs1451435807 CA347571688 |
644 | H>Y | No |
ClinGen gnomAD |
|
|
rs1333786174 CA347571654 |
648 | I>T | No |
ClinGen gnomAD |
|
|
rs1278401965 CA347571657 |
648 | I>V | No |
ClinGen TOPMed |
|
|
CA347571643 rs1241834884 |
650 | M>T | No |
ClinGen TOPMed |
|
|
CA1750312 rs773218298 |
650 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1293002547 CA347571634 |
651 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750896154 CA51410084 |
655 | G>C | No |
ClinGen Ensembl |
|
|
CA1750311 rs768612101 |
655 | G>D | No |
ClinGen ExAC |
|
| TCGA novel | 656 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1750310 rs200630890 |
656 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61760874 CA1750308 |
658 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347571592 rs1573347923 |
658 | C>R | No |
ClinGen Ensembl |
|
|
rs892333630 CA347571558 |
663 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1403005290 CA347571557 |
663 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs892333630 CA51410058 |
663 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1180214911 CA347571540 |
665 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs561735009 CA1750307 |
666 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1232194751 CA347571538 |
666 | S>P | No |
ClinGen gnomAD |
|
|
CA1750304 rs746516136 |
667 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA1750305 rs146507546 |
667 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780903573 CA1750306 |
667 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs144162110 CA1750303 |
668 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1180711953 CA347571520 |
669 | K>* | No |
ClinGen TOPMed |
|
|
CA1750299 rs758946477 |
670 | K>N | No |
ClinGen ExAC |
|
|
CA347571511 rs1311929703 |
670 | K>T | No |
ClinGen gnomAD |
|
|
CA347571506 rs1434503077 |
671 | Q>E | No |
ClinGen TOPMed |
|
|
rs926278370 CA51409985 |
671 | Q>P | No |
ClinGen Ensembl |
|
|
CA347571498 rs1373287142 |
672 | P>S | No |
ClinGen gnomAD |
|
|
CA347571490 rs1439192605 |
673 | Y>C | No |
ClinGen gnomAD |
|
|
rs371702501 CA347571482 |
674 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371702501 CA1750297 |
674 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765651613 CA347571475 |
675 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347571477 rs1479784259 |
675 | Q>R | No |
ClinGen Ensembl |
|
|
CA1750295 rs543456450 |
676 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347571462 rs1382330488 |
677 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA347571456 rs1553413928 |
678 | P>S | No |
ClinGen Ensembl |
|
|
rs201068550 CA51409915 |
682 | D>E | No |
ClinGen Ensembl |
|
|
CA347571410 rs1558680903 |
685 | S>A | No |
ClinGen Ensembl |
|
|
rs1440024658 CA347571409 |
685 | S>Y | No |
ClinGen TOPMed gnomAD |
No associated diseases with O00237
14 regional properties for O00237
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 639 - 902 | IPR000719 |
| domain | Ephrin receptor ligand binding domain | 21 - 203 | IPR001090 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 640 - 898 | IPR001245 |
| conserved_site | Tyrosine-protein kinase, receptor class V, conserved site | 179 - 199 | IPR001426-1 |
| conserved_site | Tyrosine-protein kinase, receptor class V, conserved site | 242 - 262 | IPR001426-2 |
| domain | Sterile alpha motif domain | 928 - 995 | IPR001660 |
| domain | Fibronectin type III | 325 - 435 | IPR003961-1 |
| domain | Fibronectin type III | 436 - 531 | IPR003961-2 |
| active_site | Tyrosine-protein kinase, active site | 760 - 772 | IPR008266 |
| domain | Tyrosine-protein kinase ephrin type A/B receptor-like | 265 - 303 | IPR011641 |
| binding_site | Protein kinase, ATP binding site | 645 - 671 | IPR017441 |
| domain | Tyrosine-protein kinase, catalytic domain | 639 - 898 | IPR020635 |
| domain | Ephrin receptor, transmembrane domain | 545 - 635 | IPR027936 |
| domain | Ephrin type-B receptor 2, ligand binding domain | 20 - 197 | IPR034238 |
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 | |
4 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). |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| 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-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. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| central nervous system development | The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. |
| endoplasmic reticulum mannose trimming | Any protein alpha-1,2-demannosylation that takes place in the endoplasmic reticulum quality control compartment (ERQC). |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| ubiquitin-dependent ERAD pathway | The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome. |
17 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9VE61 | CG7694 | E3 ubiquitin-protein ligase RNF181 homolog | Drosophila melanogaster (Fruit fly) | PR |
| Q86Y13 | DZIP3 | E3 ubiquitin-protein ligase DZIP3 | Homo sapiens (Human) | PR |
| Q9Y3E7 | CHMP3 | Charged multivesicular body protein 3 | Homo sapiens (Human) | EV |
| Q9R1W3 | Rnf103 | E3 ubiquitin-protein ligase RNF103 | Mus musculus (Mouse) | PR |
| Q9EPZ8 | Rnf103 | E3 ubiquitin-protein ligase RNF103 | Rattus norvegicus (Rat) | PR |
| Q9SI09 | XERICO | Probable E3 ubiquitin-protein ligase XERICO | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZV51 | ATL56 | RING-H2 finger protein ATL56 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SKK8 | ATL22 | RING-H2 finger protein ATL22 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P0CH02 | ATL21B | Putative RING-H2 finger protein ATL21B | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P0CH01 | ATL21A | Putative RING-H2 finger protein ATL21A | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O22255 | ATL64 | RING-H2 finger protein ATL64 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8RXX9 | ATL6 | E3 ubiquitin-protein ligase ATL6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8GYT9 | SIS3 | E3 ubiquitin-protein ligase SIS3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LZJ6 | ATL5 | RING-H2 finger protein ATL5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8GXF8 | SGR9 | E3 ubiquitin-protein ligase SGR9, amyloplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8LGA5 | ATL31 | E3 ubiquitin-protein ligase ATL31 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LUZ9 | ATL63 | RING-H2 finger protein ATL63 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWLKLFFLLL | YFLVLFVLAR | FFEAIVWYET | GIFATQLVDP | VALSFKKLKT | ILECRGLGYS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GLPEKKDVRE | LVEKSGDLME | GELYSALKEE | EASESVSSTN | FSGEMHFYEL | VEDTKDGIWL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VQVIANDRSP | LVGKIHWEKM | VKKVSRFGIR | TGTFNCSSDP | RYCRRRGWVR | STLIMSVPQT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| STSKGKVMLK | EYSGRKIEVE | HIFKWITAHA | ASRIKTIYNA | EHLKEEWNKS | DQYWLKIYLF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ANLDQPPAFF | SALSIKFTGR | VEFIFVNVEN | WDNKSYMTDI | GIYNMPSYIL | RTPEGIYRYG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NHTGEFISLQ | AMDSFLRSLQ | PEVNDLFVLS | LVLVNLMAWM | DLFITQGATI | KRFVVLISTL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GTYNSLLIIS | WLPVLGFLQL | PYLDSFYEYS | LKLLRYSNTT | TLASWVRADW | MFYSSHPALF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LSTYLGHGLL | IDYFEKKRRR | NNNNDEVNAN | NLEWLSSLWD | WYTSYLFHPI | ASFQNFPVES |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DWDEDPDLFL | ERLAFPDLWL | HPLIPTDYIK | NLPMWRFKCL | GVQSEEEMSE | GSQDTENDSE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SENTDTLSSE | KEVFEDKQSV | LHNSPGTASH | CDAEACSCAN | KYCQTSPCER | KGRSYGSYNT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NEDMEPDWLT | WPADMLHCTE | CVVCLENFEN | GCLLMGLPCG | HVFHQNCIVM | WLAGGRHCCP |
| 670 | 680 | ||||
| VCRWPSYKKK | QPYAQHQPLS | NDVPS |