O60337
PR
Gene name |
MARCHF6 |
Protein name |
E3 ubiquitin-protein ligase MARCHF6 |
Names |
Doa10 homolog, Membrane-associated RING finger protein 6, Membrane-associated RING-CH protein VI, MARCH-VI, Protein TEB-4, RING finger protein 176, RING-type E3 ubiquitin transferase MARCHF6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10299 |
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 O60337
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O60337-F1 | Predicted | AlphaFoldDB |
469 variants for O60337
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 5 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359175825 rs1303087986 |
7 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 11 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359175894 rs1395092813 |
11 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 13 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3198784 rs367661138 |
18 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 20 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA113893316 rs1030263736 |
46 | H>R | No |
ClinGen Ensembl |
|
|
CA359176818 rs1423667353 |
48 | R>* | No |
ClinGen gnomAD |
|
|
rs189021041 COSM1059324 CA3198806 |
48 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs950804672 CA113893327 |
51 | Y>C | No |
ClinGen Ensembl |
|
|
CA3198808 rs773206674 |
56 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3198810 rs766552222 |
62 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1378165524 CA359176978 |
63 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 63 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs961733167 CA113894879 |
72 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs764082741 CA3198836 |
72 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359177173 rs1448858073 |
74 | P>T | No |
ClinGen gnomAD |
|
|
CA3198839 rs764826332 |
75 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 76 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA113894896 rs947682914 |
78 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1242316805 CA359177208 |
79 | F>L | No |
ClinGen gnomAD |
|
|
CA113894908 rs919716042 |
85 | S>N | No |
ClinGen Ensembl |
|
|
CA359177280 rs1431820918 |
90 | I>T | No |
ClinGen TOPMed |
|
|
CA359177278 rs1422285399 |
90 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA359177319 rs1197440321 |
95 | H>Q | No |
ClinGen gnomAD |
|
|
CA359177358 rs1235897818 |
101 | F>S | No |
ClinGen gnomAD |
|
|
CA113894921 rs138429990 |
108 | P>T | No |
ClinGen ESP |
|
|
CA3198843 rs748408127 |
110 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1480870851 COSM1739137 CA359178323 |
113 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3198863 rs762685475 |
116 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA359178482 rs1442765108 |
119 | F>C | No |
ClinGen TOPMed |
|
|
CA359178516 rs1221904640 |
121 | G>S | No |
ClinGen gnomAD |
|
|
CA3198866 rs756533777 |
122 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA113897232 rs949930356 |
123 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 124 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3198870 rs779074611 |
127 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs745896413 CA3198871 |
128 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747220950 CA3198874 |
132 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 136 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3198876 rs776500354 |
136 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1396215933 CA359179349 |
137 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1561120752 CA359179339 |
137 | E>K | No |
ClinGen Ensembl |
|
|
CA359179395 rs747907503 |
139 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 140 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430715459 CA359179425 |
141 | A>T | No |
ClinGen TOPMed |
|
|
rs1179387278 CA359179439 |
142 | D>N | No |
ClinGen TOPMed |
|
|
CA113898926 rs76968725 |
145 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 145 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3198900 rs200660403 |
151 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA113898940 rs1052332002 |
154 | L>V | No |
ClinGen gnomAD |
|
|
CA113898944 rs113774636 |
157 | F>V | No |
ClinGen Ensembl |
|
|
rs1325592520 CA359179654 |
161 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 170 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 171 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3198905 rs767118416 |
172 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1059327 CA3198906 rs201511868 |
174 | I>V | endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3198908 rs193296973 |
179 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1402016704 CA359179785 |
180 | A>P | No |
ClinGen Ensembl |
|
|
rs1298449091 CA359179789 |
180 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs765621410 CA3198909 |
181 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176759761 CA359179794 |
181 | P>L | No |
ClinGen gnomAD |
|
|
rs149421657 CA3198910 |
182 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359179809 rs1333933084 |
184 | N>D | No |
ClinGen TOPMed |
|
|
CA359179808 rs1333933084 |
184 | N>H | No |
ClinGen TOPMed |
|
|
rs755279989 CA3198916 |
184 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs755279989 CA3198915 |
184 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA359179824 rs1336775427 |
186 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750831640 CA359179829 |
187 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs750831640 CA3198920 |
187 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1329947897 CA359179834 |
188 | H>L | No |
ClinGen gnomAD |
|
|
CA359179842 rs1375894631 |
189 | H>P | No |
ClinGen gnomAD |
|
|
CA359179846 rs1159887999 |
189 | H>Q | No |
ClinGen TOPMed |
|
|
rs770855057 CA3198921 |
190 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 191 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359179894 rs1479525843 |
194 | P>L | No |
ClinGen TOPMed |
|
|
rs373188006 CA3198938 |
195 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1579567728 CA359179911 |
197 | G>R | No |
ClinGen Ensembl |
|
|
CA3198939 rs374960965 |
198 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA113899671 rs964538113 |
198 | N>I | No |
ClinGen Ensembl |
|
|
rs12054882 CA113899675 |
201 | E>K | No |
ClinGen Ensembl |
|
|
CA3198941 rs148600192 |
202 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1429843904 CA359180000 |
203 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs778871390 CA3198942 |
206 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA359180033 rs1262033594 |
207 | Q>E | No |
ClinGen gnomAD |
|
|
CA359180068 rs1579567809 |
209 | A>V | No |
ClinGen Ensembl |
|
|
CA3198943 rs745793572 |
212 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3198944 rs771636904 |
215 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA359180153 rs1204361871 |
216 | A>T | No |
ClinGen TOPMed |
|
|
CA3198947 rs768305222 |
217 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs746652529 CA3198946 |
217 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA359180181 rs1426956238 |
218 | V>G | No |
ClinGen gnomAD |
|
|
CA359180189 rs1303928071 |
219 | G>E | No |
ClinGen gnomAD |
|
|
rs542361183 CA3198948 |
219 | G>R | No |
ClinGen 1000Genomes ExAC |
|
|
CA3198949 rs763412774 |
220 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359180216 rs1271976654 |
222 | P>L | No |
ClinGen gnomAD |
|
|
CA359180237 rs1310491145 |
225 | Q>H | No |
ClinGen gnomAD |
|
|
rs771395609 CA3198950 |
226 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs983116511 CA113899737 |
227 | D>N | No |
ClinGen Ensembl |
|
|
rs1579567954 CA359180274 |
229 | A>T | No |
ClinGen Ensembl |
|
|
CA359180382 rs760057753 |
234 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs767721638 CA359180398 |
236 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767721638 CA3198954 |
236 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466845512 CA359180410 |
236 | N>S | No |
ClinGen gnomAD |
|
|
rs1447041528 CA359180423 |
237 | E>D | No |
ClinGen gnomAD |
|
|
rs1164571213 CA359180450 |
239 | E>A | No |
ClinGen gnomAD |
|
|
CA359180472 rs1297392000 |
240 | D>V | No |
ClinGen TOPMed |
|
|
rs908959812 CA113899743 |
242 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3198956 rs760840042 |
244 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA113899747 rs760840042 |
244 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764418277 CA3198957 |
246 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1320564739 CA359180543 |
246 | D>G | No |
ClinGen gnomAD |
|
|
rs757101939 CA3198959 |
247 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435135842 CA359180617 |
251 | N>D | No |
ClinGen TOPMed |
|
|
rs758272748 CA3198962 |
253 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1367436843 CA359180697 |
256 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 258 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754572211 CA3198982 |
267 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 270 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359181090 rs1561125141 |
277 | M>L | No |
ClinGen Ensembl |
|
|
rs1193041053 CA359181155 |
282 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 283 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs933821250 CA113900909 |
285 | V>A | No |
ClinGen TOPMed |
|
|
rs1360652913 CA359181939 |
293 | V>A | No |
ClinGen gnomAD |
|
|
rs773477132 CA3199024 |
302 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs972092696 CA113901440 |
303 | V>I | No |
ClinGen TOPMed |
|
|
rs771020601 CA3199049 |
308 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3199051 rs759302081 |
313 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 314 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775636615 CA3199053 |
317 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA359183084 rs771980197 |
317 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3199052 rs771980197 |
317 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 320 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760625865 CA3199054 |
324 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA359183576 rs1245211998 |
326 | Q>H | No |
ClinGen gnomAD |
|
|
rs766791248 CA3199081 |
326 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 330 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867205987 CA113902517 |
331 | E>K | No |
ClinGen Ensembl |
|
|
rs906139099 CA113902524 |
336 | T>A | No |
ClinGen Ensembl |
|
|
CA3199086 rs144052844 |
337 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144052844 CA3199085 |
337 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 340 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3199089 rs746838941 |
344 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs925445839 CA113902535 |
345 | I>V | No |
ClinGen TOPMed |
|
|
rs768547823 CA3199090 |
349 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA3199091 rs776489258 |
350 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 350 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359183778 rs1224135778 |
356 | L>P | No |
ClinGen gnomAD |
|
|
CA3199113 rs769720753 COSM325767 |
357 | V>A | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs918260233 CA113902616 |
358 | K>* | No |
ClinGen Ensembl |
|
|
rs777544091 CA3199114 |
362 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs267600311 CA113902620 |
363 | R>C | No |
ClinGen gnomAD |
|
|
CA113902622 rs977818777 |
363 | R>L | No |
ClinGen TOPMed |
|
|
CA359183826 rs1289102609 |
364 | R>C | No |
ClinGen gnomAD |
|
|
rs146475533 CA3199115 |
364 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1206831373 CA359183832 |
365 | L>S | No |
ClinGen gnomAD |
|
|
rs770418820 CA3199116 |
367 | G>E | No |
ClinGen ExAC |
|
|
rs925446195 CA113902629 |
373 | V>L | No |
ClinGen TOPMed |
|
|
CA359183929 rs1561131382 |
375 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 379 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258451475 CA359183979 |
380 | V>L | No |
ClinGen TOPMed |
|
|
CA359183986 rs1275881173 |
381 | V>I | No |
ClinGen gnomAD |
|
|
CA359184027 rs1213351530 |
385 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA359184056 rs1490243645 |
388 | L>P | No |
ClinGen gnomAD |
|
|
CA359184060 rs1271055070 |
389 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 392 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359184131 rs1579585938 |
395 | D>G | No |
ClinGen Ensembl |
|
|
rs1161781344 CA359184146 |
396 | I>M | No |
ClinGen gnomAD |
|
|
CA359170480 rs1383494209 |
402 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1253511878 CA359170494 |
403 | D>N | No |
ClinGen TOPMed |
|
|
rs757822396 CA3199157 |
406 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359170536 rs1238625644 |
407 | K>Q | No |
ClinGen gnomAD |
|
|
rs779813143 CA3199158 COSM735145 |
408 | D>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA359170561 rs1352975971 |
408 | D>V | No |
ClinGen gnomAD |
|
|
rs998223447 CA113886838 |
409 | R>G | No |
ClinGen Ensembl |
|
|
rs746636112 CA3199159 |
410 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA359170604 rs1262409414 |
411 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA359170615 rs1231286916 |
412 | S>N | No |
ClinGen TOPMed |
|
|
rs773649481 CA3199161 |
412 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1204015995 CA359170638 |
413 | F>C | No |
ClinGen TOPMed |
|
|
CA3199162 rs749831366 |
414 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1298433747 CA359170676 |
415 | S>L | No |
ClinGen Ensembl |
|
|
CA113886855 rs571474697 |
418 | G>C | No |
ClinGen Ensembl |
|
|
rs774965742 CA3199164 |
418 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 425 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 428 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359170855 rs1579587858 |
430 | V>G | No |
ClinGen Ensembl |
|
|
rs1468758962 CA359170883 |
434 | Y>C | No |
ClinGen gnomAD |
|
|
rs1304902733 CA359170947 |
439 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757992399 CA3199174 |
442 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3199175 rs779363182 |
443 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 444 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359171737 rs1338683944 |
446 | L>V | No |
ClinGen TOPMed |
|
|
rs750375412 CA3199191 |
447 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3199192 rs758206728 |
447 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781039340 CA3199196 |
460 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1363736718 CA359171838 |
461 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 463 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA113887998 rs958017041 |
465 | V>I | No |
ClinGen Ensembl |
|
|
rs779090414 COSM1059335 CA3199199 |
478 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs772422184 CA3199201 |
481 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs747508203 CA3199231 |
485 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399860275 CA359172503 |
486 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 487 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 489 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768723915 CA3199232 |
490 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389284053 COSM481725 CA359172613 |
490 | I>T | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs781186826 CA3199233 |
492 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3199235 rs148926237 |
494 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748387311 CA3199234 |
494 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs748387311 CA359172665 |
494 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1579594191 CA359172722 |
497 | L>F | No |
ClinGen Ensembl |
|
|
CA3199236 rs773452183 |
500 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA3199237 rs147045645 |
500 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146132234 CA3199238 |
501 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3199239 rs774436565 |
502 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA359172812 rs1276861472 |
503 | K>N | No |
ClinGen gnomAD |
|
|
rs759491019 CA3199240 |
503 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1475222617 CA359172828 |
504 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA113888872 rs1031595528 |
505 | V>M | No |
ClinGen Ensembl |
|
|
rs956857108 CA113888876 |
507 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3199241 rs375253933 |
509 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752215003 CA3199242 |
512 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA359172983 rs1191343215 |
516 | L>P | No |
ClinGen TOPMed |
|
|
rs1364629288 CA359173812 |
520 | A>T | No |
ClinGen gnomAD |
|
|
CA359173861 rs1402521841 |
523 | S>T | No |
ClinGen gnomAD |
|
|
rs763657975 CA3199263 |
537 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 540 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359174004 rs1462327856 |
542 | Q>L | No |
ClinGen TOPMed |
|
|
CA359174009 rs1275592147 |
543 | G>R | No |
ClinGen gnomAD |
|
|
CA359174026 rs751876922 |
545 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs751876922 CA3199267 |
545 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1475399436 CA359174052 |
549 | L>M | No |
ClinGen TOPMed |
|
|
rs1038048921 CA113890604 |
551 | G>R | No |
ClinGen TOPMed |
|
|
rs1579599058 CA359174079 |
553 | V>G | No |
ClinGen Ensembl |
|
|
rs753187696 CA3199270 |
554 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs200089051 CA113890612 |
554 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs1245917916 CA359174089 |
555 | A>V | No |
ClinGen gnomAD |
|
|
CA359174097 rs1251999020 |
556 | W>C | No |
ClinGen TOPMed |
|
|
CA3199272 rs372660548 |
559 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757462388 CA3199275 |
560 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757462388 CA3199274 |
560 | A>T | Variant assessed as Somatic; 9.252e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771983984 CA3199277 |
562 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA359174141 rs1406422386 |
563 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1321570791 CA359174451 |
565 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 565 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866011331 CA113891083 |
566 | L>F | No |
ClinGen Ensembl |
|
|
rs1405811297 CA359174504 |
567 | H>R | No |
ClinGen gnomAD |
|
|
rs1394468025 CA359174531 |
568 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA359174595 rs1341345416 |
571 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3199293 rs750671559 |
573 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA359174743 rs1180989906 |
577 | N>S | No |
ClinGen TOPMed |
|
|
rs977709034 CA113891090 |
579 | N>S | No |
ClinGen TOPMed |
|
|
rs200202081 CA113891093 |
580 | S>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA359174782 rs1286598246 |
580 | S>R | No |
ClinGen gnomAD |
|
|
rs1262235678 CA359174800 |
581 | A>T | No |
ClinGen gnomAD |
|
|
CA359174859 rs1200412429 |
584 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA359174892 rs1482167269 |
586 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 586 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3199294 rs758275605 |
588 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA3199295 rs779935020 |
590 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3199297 rs768593757 |
591 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1413548708 CA359175049 |
592 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs925072667 CA113891101 |
593 | N>D | No |
ClinGen Ensembl |
|
|
rs780956417 CA3199298 |
593 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1377372972 CA359175085 |
595 | N>D | No |
ClinGen gnomAD |
|
|
CA113891109 rs936416253 |
596 | A>P | No |
ClinGen Ensembl |
|
|
CA3199300 rs769279967 |
597 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3199301 rs772912835 |
599 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772912835 CA359175178 |
599 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352442172 CA359175586 |
600 | V>A | No |
ClinGen gnomAD |
|
|
CA359175635 rs1228881545 |
604 | L>P | No |
ClinGen gnomAD |
|
|
rs1282538184 CA359175648 |
605 | H>R | No |
ClinGen gnomAD |
|
|
rs772450062 CA3199303 |
607 | A>P | No |
ClinGen ExAC |
|
|
CA3199304 rs775886877 |
608 | H>P | No |
ClinGen ExAC |
|
|
rs200779854 CA3199305 |
609 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1235134884 CA359175768 |
612 | L>F | No |
ClinGen gnomAD |
|
|
rs1256426512 CA359175790 |
613 | Q>H | No |
ClinGen gnomAD |
|
|
rs1338277439 CA359175850 |
616 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1278215649 CA359175871 |
617 | P>A | No |
ClinGen TOPMed |
|
|
rs764711613 CA3199306 |
618 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1202592479 CA359175895 |
618 | V>F | No |
ClinGen gnomAD |
|
|
CA3199307 rs754291147 |
620 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_030251 rs1062914 |
622 | P>L | No |
UniProt dbSNP |
|
|
rs199680498 CA3199308 |
622 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs146581975 CA3199309 |
624 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs750689914 CA3199310 |
624 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs146581975 CA113891140 |
624 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 625 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3199311 rs758641059 |
625 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3199313 rs146197042 |
628 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1166974618 CA359176119 |
628 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 630 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752643750 CA359176579 CA3199338 |
633 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752643750 CA359176580 |
633 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309914596 CA359176657 |
638 | V>D | No |
ClinGen gnomAD |
|
|
rs1309914596 CA359176660 |
638 | V>G | No |
ClinGen gnomAD |
|
|
CA359176698 rs1221726090 |
640 | M>I | No |
ClinGen gnomAD |
|
|
CA359176694 rs1323022747 |
640 | M>L | No |
ClinGen gnomAD |
|
|
rs949825786 CA113892213 |
642 | I>M | No |
ClinGen TOPMed |
|
|
CA359176724 rs1561142134 |
642 | I>V | No |
ClinGen Ensembl |
|
|
CA3199340 rs777658302 |
643 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3199341 rs748846877 |
643 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3199342 rs756748102 |
644 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA3199343 rs778698414 |
648 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA113892227 rs745449500 |
649 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3199344 rs745449500 |
649 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs769081879 CA359176859 |
652 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769081879 CA3199345 |
652 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3199346 rs776814719 |
653 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1296972792 CA359176887 |
654 | L>S | No |
ClinGen TOPMed |
|
|
rs748692918 CA3199347 |
654 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348117075 CA359176997 |
656 | V>A | No |
ClinGen gnomAD |
|
|
COSM1619295 rs1408481910 CA359177023 |
660 | R>H | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs775676211 CA3199373 |
661 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763813722 CA3199375 |
663 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs182494860 COSM180627 CA3199377 |
667 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 667 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 669 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3199381 rs370893029 |
671 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1370097526 CA359177775 |
677 | T>I | No |
ClinGen TOPMed |
|
|
CA3199384 rs778225145 |
683 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 683 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3199385 rs749823965 |
685 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA359177939 rs1167593150 |
688 | T>I | No |
ClinGen gnomAD |
|
|
rs1431071773 CA359177950 |
689 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA113892738 rs548313022 |
690 | R>K | No |
ClinGen Ensembl |
|
|
CA359178031 rs1308180572 |
692 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA113892747 rs768107703 |
693 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA359178062 rs1273404663 |
694 | V>M | No |
ClinGen gnomAD |
|
|
rs201645809 CA3199387 |
695 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1274153495 CA359178149 |
697 | A>S | No |
ClinGen gnomAD |
|
|
rs1207370280 CA359178198 |
699 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1450893491 CA359178242 |
703 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs772135999 CA3199389 |
703 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 704 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248186635 CA359178258 |
704 | R>K | No |
ClinGen gnomAD |
|
|
rs775696728 CA3199390 |
704 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248186635 CA359178259 |
704 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 705 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1579607017 CA359178266 |
705 | V>M | No |
ClinGen Ensembl |
|
|
CA359178277 rs1225960036 |
706 | I>V | No |
ClinGen TOPMed |
|
|
CA3199391 rs760831566 |
710 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA3199393 rs768466015 |
714 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359178548 rs1168605401 |
716 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 717 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340133966 CA359178834 |
718 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs896081016 CA113893449 |
718 | M>T | No |
ClinGen TOPMed |
|
|
rs1340133966 CA359178829 |
718 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1022005637 CA113893452 |
721 | L>S | No |
ClinGen TOPMed |
|
|
CA359178905 rs1256258420 |
722 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 723 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780061610 CA3199408 |
724 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA359178952 rs1318829436 |
725 | V>E | No |
ClinGen TOPMed |
|
|
rs1265957623 CA359178986 |
728 | A>T | No |
ClinGen gnomAD |
|
|
rs1466071648 CA359179014 |
730 | V>A | No |
ClinGen gnomAD |
|
|
rs1466071648 CA359179017 |
730 | V>G | No |
ClinGen gnomAD |
|
|
CA359179037 rs1205543732 |
731 | V>G | No |
ClinGen gnomAD |
|
|
rs1298060457 CA359179021 |
731 | V>I | No |
ClinGen TOPMed |
|
|
CA113893461 rs867093177 |
734 | L>R | No |
ClinGen Ensembl |
|
|
CA3199413 rs368816398 |
735 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3199414 rs773024205 |
737 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA359179144 rs1475799196 |
737 | L>R | No |
ClinGen gnomAD |
|
|
rs1033536863 CA113893499 |
742 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3199416 rs766008728 |
743 | I>V | No |
ClinGen ExAC |
|
|
CA3199417 rs773958112 |
745 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1443784605 CA359179278 |
746 | P>S | No |
ClinGen TOPMed |
|
|
rs1394522382 CA359179390 |
752 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA113893506 rs1007714001 |
753 | Q>H | No |
ClinGen TOPMed |
|
|
rs1336175353 CA359179410 |
753 | Q>R | No |
ClinGen gnomAD |
|
|
rs1453988338 CA359179498 |
755 | P>L | No |
ClinGen gnomAD |
|
|
CA3199419 rs767337435 |
757 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409343810 CA359179559 |
758 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 758 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752391927 CA3199420 |
759 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA359179583 rs1355910396 |
759 | P>L | No |
ClinGen TOPMed |
|
|
rs760329268 CA3199440 |
763 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 766 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431774708 CA359181807 |
773 | I>T | No |
ClinGen gnomAD |
|
|
rs750844116 CA3199442 |
774 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3199444 rs766926204 |
776 | I>M | No |
ClinGen ExAC |
|
|
CA3199443 rs758744437 |
776 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 779 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752053056 CA3199445 |
779 | M>V | No |
ClinGen ExAC |
|
|
CA113895923 rs78584784 |
785 | L>V | No |
ClinGen Ensembl |
|
|
rs752883900 CA3199448 |
786 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA359182356 rs775879229 |
794 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3199467 COSM481726 rs775879229 |
794 | A>T | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1333246876 CA359182379 |
795 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3199469 rs541296864 |
797 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1207274476 CA359182443 |
798 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359182439 rs1328885904 |
798 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1244053007 CA359182457 |
799 | N>Y | No |
ClinGen gnomAD |
|
|
CA359182547 rs1465565807 |
803 | H>Q | No |
ClinGen gnomAD |
|
|
CA359182542 rs1486346728 |
803 | H>R | No |
ClinGen gnomAD |
|
|
CA359182573 rs1254173722 |
805 | I>T | No |
ClinGen gnomAD |
|
|
rs757133076 CA3199470 COSM1315923 |
805 | I>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA113896976 rs930204888 |
807 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs778803438 CA3199471 |
807 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA113896975 rs930204888 |
807 | R>S | No |
ClinGen TOPMed |
|
|
CA3199472 rs745834402 |
810 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA359182652 rs1194919577 |
810 | A>V | No |
ClinGen TOPMed |
|
|
rs772089808 CA359182663 |
811 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1055985370 CA113896982 |
811 | A>T | No |
ClinGen TOPMed |
|
|
CA3199473 rs772089808 |
811 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA359182694 rs1300529689 |
813 | V>M | No |
ClinGen gnomAD |
|
|
CA113896993 rs1014398375 |
816 | V>A | No |
ClinGen TOPMed |
|
|
rs146173662 CA3199479 |
823 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1350482881 CA359182824 |
823 | V>I | No |
ClinGen gnomAD |
|
|
CA359182826 rs1350482881 |
823 | V>L | No |
ClinGen gnomAD |
|
|
CA359182879 rs1338858063 |
825 | Y>C | No |
ClinGen TOPMed |
|
|
CA359182880 rs1338858063 |
825 | Y>F | No |
ClinGen TOPMed |
|
|
CA359182908 rs1252057199 |
826 | V>G | No |
ClinGen TOPMed |
|
|
CA359182917 rs1229900405 |
827 | I>V | No |
ClinGen TOPMed |
|
|
rs544035688 CA3199481 |
831 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA113897022 rs768117450 |
832 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3199482 rs768117450 |
832 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1045193362 CA113897033 |
833 | P>R | No |
ClinGen Ensembl |
|
|
rs867534019 CA113897026 |
833 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs372110273 CA3199483 |
834 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA113898209 rs202148680 |
838 | T>A | No |
ClinGen 1000Genomes |
|
|
rs201277006 CA3199511 |
839 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs536045456 CA3199513 |
840 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359185107 rs1159847155 |
841 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs747704020 CA3199514 |
841 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs755607494 CA3199515 |
842 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235341742 CA359185124 |
842 | Q>R | No |
ClinGen gnomAD |
|
|
CA3199517 rs748835122 |
846 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3199518 rs772510432 |
847 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs949871008 CA113898246 |
847 | R>W | No |
ClinGen gnomAD |
|
|
rs775679238 CA3199519 |
848 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1468608232 CA359185288 |
849 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA359185407 rs1579624800 |
853 | L>F | No |
ClinGen Ensembl |
|
|
rs200751600 CA359185511 |
857 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1753897 rs200751600 CA3199521 |
857 | V>M | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3199522 rs777269123 |
862 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1405295846 CA359185617 |
865 | F>L | No |
ClinGen gnomAD |
|
|
CA3199525 rs773493111 |
868 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3199526 rs763034228 |
868 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA359185636 rs763034228 |
868 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 869 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3199527 rs766225956 |
872 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs751349733 CA3199528 |
872 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139107265 CA3199530 |
877 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 879 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359185729 rs1308141441 |
881 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 884 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 886 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359186488 COSM1059340 rs1352342803 |
887 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA359186493 rs1205379328 |
888 | L>P | No |
ClinGen gnomAD |
|
|
rs752654046 CA3199553 |
889 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3199552 rs752654046 |
889 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1396502409 CA359186521 |
892 | E>D | No |
ClinGen TOPMed |
|
|
COSM169069 CA113899597 rs1007031551 |
892 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs142412317 CA359186523 |
893 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3199558 rs750033619 |
893 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3199557 rs142412317 |
893 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs538477547 CA3199560 |
899 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs538477547 CA113899609 |
899 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs748692826 CA3199561 |
901 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs770241514 CA3199562 |
902 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs778318647 CA3199564 |
903 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778318647 CA3199563 |
903 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359186595 rs774440964 |
905 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3199566 rs774440964 |
905 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA113899617 rs774440964 |
905 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 905 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3199567 rs759705484 |
906 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs771886422 CA3199568 |
906 | Q>R | No |
ClinGen ExAC gnomAD |
1 associated diseases with O60337
[MIM: 613608]: Epilepsy, familial adult myoclonic, 3 (FAME3)
A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME3 inheritance is autosomal dominant. {ECO:0000269|PubMed:31664039}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME3 inheritance is autosomal dominant. {ECO:0000269|PubMed:31664039}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for O60337
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, RING-CH-type | 1 - 62 | IPR011016 |
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 | |
7 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. |
| ER ubiquitin ligase complex | A ubiquitin ligase complex found in the ER. |
| integral component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| ubiquitin conjugating enzyme binding | Binding to a ubiquitin conjugating enzyme, any of the E2 proteins. |
| 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. |
| ubiquitin-specific protease binding | Binding to a ubiquitin-specific protease. |
| zinc ion binding | Binding to a zinc ion (Zn). |
7 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. |
| proteasomal protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds that is mediated by the proteasome. |
| 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 K48-linked ubiquitination | A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is added to a protein. K48-linked ubiquitination targets the substrate protein for degradation. |
| 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. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6NZQ8 | Marchf1 | E3 ubiquitin-protein ligase MARCHF1 | Mus musculus (Mouse) | PR |
| Q6ZQ89 | Marchf6 | E3 ubiquitin-protein ligase MARCHF6 | Mus musculus (Mouse) | PR |
| Q28IK8 | marchf8 | E3 ubiquitin-protein ligase MARCHF8 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDTAEEDICR | VCRSEGTPEK | PLYHPCVCTG | SIKFIHQECL | VQWLKHSRKE | YCELCKHRFA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FTPIYSPDMP | SRLPIQDIFA | GLVTSIGTAI | RYWFHYTLVA | FAWLGVVPLT | ACRIYKCLFT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GSVSSLLTLP | LDMLSTENLL | ADCLQGCFVV | TCTLCAFISL | VWLREQIVHG | GAPIWLEHAA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PPFNAAGHHQ | NEAPAGGNGA | ENVAADQPAN | PPAENAVVGE | NPDAQDDQAE | EEEEDNEEED |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DAGVEDAADA | NNGAQDDMNW | NALEWDRAAE | ELTWERMLGL | DGSLVFLEHV | FWVVSLNTLF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ILVFAFCPYH | IGHFSLVGLG | FEEHVQASHF | EGLITTIVGY | ILLAITLIIC | HGLATLVKFH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RSRRLLGVCY | IVVKVSLLVV | VEIGVFPLIC | GWWLDICSLE | MFDATLKDRE | LSFQSAPGTT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MFLHWLVGMV | YVFYFASFIL | LLREVLRPGV | LWFLRNLNDP | DFNPVQEMIH | LPIYRHLRRF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ILSVIVFGSI | VLLMLWLPIR | IIKSVLPNFL | PYNVMLYSDA | PVSELSLELL | LLQVVLPALL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EQGHTRQWLK | GLVRAWTVTA | GYLLDLHSYL | LGDQEENENS | ANQQVNNNQH | ARNNNAIPVV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GEGLHAAHQA | ILQQGGPVGF | QPYRRPLNFP | LRIFLLIVFM | CITLLIASLI | CLTLPVFAGR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| WLMSFWTGTA | KIHELYTAAC | GLYVCWLTIR | AVTVMVAWMP | QGRRVIFQKV | KEWSLMIMKT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LIVAVLLAGV | VPLLLGLLFE | LVIVAPLRVP | LDQTPLFYPW | QDWALGVLHA | KIIAAITLMG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PQWWLKTVIE | QVYANGIRNI | DLHYIVRKLA | APVISVLLLS | LCVPYVIASG | VVPLLGVTAE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| MQNLVHRRIY | PFLLMVVVLM | AILSFQVRQF | KRLYEHIKND | KYLVGQRLVN | YERKSGKQGS |
| SPPPPQSSQE |