Q9UKV5
PR
Gene name |
AMFR |
Protein name |
E3 ubiquitin-protein ligase AMFR |
Names |
Autocrine motility factor receptor, AMF receptor, RING finger protein 45, gp78 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:267 |
EC number |
2.3.2.36: 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
13 structures for Q9UKV5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2EJS | NMR | - | A | 452-502 | PDB |
| 2LVN | NMR | - | C | 453-504 | PDB |
| 2LVO | NMR | - | C | 453-504 | PDB |
| 2LVP | NMR | - | C | 453-504 | PDB |
| 2LVQ | NMR | - | D | 453-504 | PDB |
| 2LXH | NMR | - | C | 313-393 | PDB |
| 2LXP | NMR | - | PDB | ||
| 3FSH | X-ray | 276 A | C | 574-601 | PDB |
| 3H8K | X-ray | 180 A | B | 573-600 | PDB |
| 3TIW | X-ray | 180 A | C/D | 622-640 | PDB |
| 4G3O | X-ray | 160 A | A | 456-498 | PDB |
| 4LAD | X-ray | 230 A | PDB | ||
| AF-Q9UKV5-F1 | Predicted | AlphaFoldDB |
441 variants for Q9UKV5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA8064431 rs758196891 RCV000850434 |
389 | R>H | Marfanoid habitus and intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs869025244 RCV000207121 CA351522 |
596 | R>C | Variant assessed as Somatic; impact. Ductal breast carcinoma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1223494845 CA395971327 |
2 | P>S | No |
ClinGen gnomAD |
|
|
rs1176510715 CA395971302 |
4 | L>F | No |
ClinGen gnomAD |
|
|
CA395971276 rs1215133104 |
6 | L>F | No |
ClinGen gnomAD |
|
|
CA8064705 rs765677317 |
7 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA395971204 rs1250610295 |
11 | W>* | No |
ClinGen TOPMed |
|
|
rs1405666176 CA395971183 |
13 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1345759094 CA395971173 |
15 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1345759094 CA395971175 |
15 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1304540191 CA395971164 |
16 | T>I | No |
ClinGen gnomAD |
|
|
rs1440497424 CA395971148 |
18 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1329925940 CA395971139 |
19 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA395971137 rs1329925940 |
19 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA395971105 rs1427798885 |
22 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1427798885 CA395971109 |
22 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1240263501 CA395971040 |
28 | T>P | No |
ClinGen gnomAD |
|
|
rs766522805 CA8064702 |
31 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761031202 CA8064701 |
32 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596949016 CA395970955 |
33 | Y>C | No |
ClinGen Ensembl |
|
|
CA395970946 rs1204944821 |
34 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs773271833 CA8064700 |
35 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567534376 CA395970938 |
36 | L>F | No |
ClinGen Ensembl |
|
|
CA395970908 rs1294738815 |
40 | E>G | No |
ClinGen TOPMed |
|
|
CA395970912 rs1261105379 |
40 | E>K | No |
ClinGen gnomAD |
|
|
rs1483039548 CA395970900 |
41 | A>V | No |
ClinGen gnomAD |
|
|
rs577589323 CA8064699 |
42 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs879120776 CA281454975 |
47 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs558617993 CA281454972 |
48 | Q>H | No |
ClinGen 1000Genomes |
|
|
rs1284623691 CA395970855 |
48 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 52 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395970820 rs1372150085 |
54 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1280565251 CA395970809 |
56 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA281454967 rs897764017 |
58 | P>Q | No |
ClinGen TOPMed |
|
|
rs897764017 CA395970792 |
58 | P>R | No |
ClinGen TOPMed |
|
|
rs1473077149 CA395970791 |
59 | A>T | No |
ClinGen TOPMed |
|
|
CA395970783 rs1161648394 |
60 | P>S | No |
ClinGen TOPMed |
|
|
rs1453080059 CA395970763 |
63 | P>L | No |
ClinGen TOPMed |
|
|
rs1444742641 CA395970751 |
65 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1444742641 CA395970750 |
65 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395970738 rs1336598268 |
67 | G>* | No |
ClinGen gnomAD |
|
|
CA395970734 rs1332011382 |
68 | P>S | No |
ClinGen TOPMed |
|
|
rs1014820504 CA281454964 |
69 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1005892570 CA281454959 |
71 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1005892570 CA395970717 |
71 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs866418006 CA281454953 |
71 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs866418006 CA281454950 |
71 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs866418006 CA395970716 |
71 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1408918447 CA395970703 |
73 | V>L | No |
ClinGen gnomAD |
|
|
rs1408918447 CA395970705 |
73 | V>M | No |
ClinGen gnomAD |
|
|
rs1303256774 CA395970675 |
75 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1303256774 CA395970673 |
75 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA395970545 rs1184635749 |
83 | F>I | No |
ClinGen TOPMed |
|
|
CA395970500 rs1157901903 |
85 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA395967545 rs1255067211 |
90 | T>I | No |
ClinGen TOPMed |
|
|
rs755567251 CA395967538 |
91 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755567251 CA8064685 |
91 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258110479 CA395967507 |
93 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8064684 rs562104501 |
100 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395967418 rs562104501 |
100 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8064683 rs766602701 |
101 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242357060 CA395967389 |
103 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1218394471 CA395967370 |
104 | C>Y | No |
ClinGen gnomAD |
|
|
CA395967358 rs1356783325 |
105 | I>V | No |
ClinGen gnomAD |
|
|
rs148164236 CA8064682 |
106 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA395967343 rs148164236 |
106 | V>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1324037513 CA395967286 |
109 | P>S | No |
ClinGen gnomAD |
|
|
rs762027541 CA395967254 |
111 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567529319 CA395967248 |
111 | R>Q | No |
ClinGen Ensembl |
|
|
rs774044432 CA8064678 |
112 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA395967169 rs1403411758 |
114 | E>A | No |
ClinGen gnomAD |
|
|
rs1329521098 CA395967155 |
115 | R>G | No |
ClinGen TOPMed |
|
|
CA8064677 rs763827808 |
115 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs762926660 CA8064676 |
116 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs13338179 CA281449931 |
118 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 121 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA281449925 rs372096570 |
121 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA395965852 rs372096570 |
121 | K>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1392674047 CA395965838 |
123 | W>G | No |
ClinGen gnomAD |
|
|
CA8064660 rs537517798 |
124 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395965814 rs1461477751 |
125 | F>L | No |
ClinGen gnomAD |
|
|
rs570295632 CA8064659 |
128 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395965622 rs1434434619 |
135 | G>C | No |
ClinGen TOPMed |
|
|
CA281449915 rs143471333 |
135 | G>D | No |
ClinGen ESP |
|
|
rs1428197654 CA395965615 |
136 | V>M | No |
ClinGen gnomAD |
|
|
CA395965574 rs1372681616 |
139 | V>D | No |
ClinGen TOPMed |
|
|
CA8064655 rs368147918 |
143 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8064654 rs752433028 |
145 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1322851090 CA395965446 |
146 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1283974370 CA395965419 |
147 | M>T | No |
ClinGen gnomAD |
|
|
CA8064653 rs765166104 |
148 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 154 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA281449892 rs879245524 |
154 | G>R | No |
ClinGen Ensembl |
|
|
rs1390539597 CA395965164 |
158 | L>P | No |
ClinGen gnomAD |
|
|
rs1400982382 CA395965125 |
161 | M>V | No |
ClinGen gnomAD |
|
|
rs1298023992 CA395965089 |
163 | Q>E | No |
ClinGen TOPMed |
|
|
CA281449885 rs887100205 |
163 | Q>R | No |
ClinGen Ensembl |
|
|
rs1343918384 CA395965071 |
164 | L>F | No |
ClinGen TOPMed |
|
|
rs200721120 CA8064650 |
165 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395965001 rs1468147261 |
168 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8064649 rs760289205 |
169 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1172654043 CA395964971 |
170 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA395964757 rs1461898125 |
172 | L>F | No |
ClinGen TOPMed |
|
|
CA395964742 rs1358646191 |
173 | S>F | No |
ClinGen gnomAD |
|
|
rs147760918 CA8064627 |
175 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs770172374 CA8064625 |
178 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316980971 CA395964660 |
178 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs770172374 CA395964669 |
178 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770172374 CA395964673 |
178 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8064623 rs781720477 |
179 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395964632 rs1235698025 |
180 | M>T | No |
ClinGen TOPMed |
|
|
rs1424380952 CA395964600 |
181 | S>N | No |
ClinGen gnomAD |
|
|
CA8064622 rs771284283 |
181 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554335643 CA8064619 |
184 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1194466515 CA395964490 |
185 | R>G | No |
ClinGen gnomAD |
|
|
rs144323704 CA8064618 |
185 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754801349 CA8064616 |
188 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395964322 rs768527670 |
191 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA281449483 rs768527670 |
191 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8064612 rs749982293 |
193 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs368757788 CA8064613 |
193 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395964213 rs1460840949 |
195 | L>F | No |
ClinGen TOPMed |
|
|
rs1341993621 CA395964172 |
196 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA395964127 rs1386871533 |
197 | C>W | No |
ClinGen TOPMed |
|
|
rs767084338 CA8064611 |
198 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs774023312 CA8064609 |
201 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs774023312 CA8064610 |
201 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA395964025 rs1396337556 |
203 | V>A | No |
ClinGen gnomAD |
|
|
rs771501323 CA8064605 |
203 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773332021 CA8064603 |
205 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773332021 CA395964007 |
205 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8064604 rs550022870 |
205 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772111343 CA8064602 |
206 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395963976 rs1229541869 |
208 | G>A | No |
ClinGen TOPMed |
|
|
CA8064600 rs376876964 |
208 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369604038 CA281449437 |
209 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8064598 rs73546000 |
210 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8064599 rs73546000 |
210 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756140159 CA8064596 |
212 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA281449411 rs906877973 |
212 | G>V | No |
ClinGen Ensembl |
|
|
CA8064595 rs750362480 |
213 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319447450 CA395963901 |
214 | H>R | No |
ClinGen gnomAD |
|
|
CA395963868 rs1260671626 |
217 | A>T | No |
ClinGen gnomAD |
|
|
rs1222595563 CA395963853 |
219 | M>V | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1596933545 CA395963834 |
220 | A>T | No |
ClinGen Ensembl |
|
|
rs1367857417 CA395963822 |
221 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 222 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749424943 CA8064574 |
225 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768168824 CA8064572 |
226 | V>Q | No |
ClinGen ExAC |
|
|
CA8064571 rs779950173 |
228 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs769682574 CA8064570 |
229 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1013611562 CA281448728 |
235 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395963090 rs1178783429 |
236 | R>* | No |
ClinGen TOPMed |
|
|
rs1379529731 CA395963087 |
236 | R>Q | No |
ClinGen gnomAD |
|
|
CA8064550 rs551360963 |
237 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746897476 CA8064548 |
238 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs777381552 CA8064547 |
241 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA281448643 rs758648077 |
242 | W>* | No |
ClinGen Ensembl |
|
|
CA395962946 rs1293541406 |
244 | L>V | No |
ClinGen gnomAD |
|
|
CA8064546 rs757840419 |
245 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1239507341 CA395962932 |
245 | N>S | No |
ClinGen TOPMed |
|
|
rs533111682 CA395962911 |
246 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1211074670 CA395962900 |
247 | E>D | No |
ClinGen gnomAD |
|
|
CA8064544 rs149927445 |
247 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395962873 rs142836436 |
249 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142836436 CA8064542 |
249 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8064539 rs751980694 |
250 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1333657180 CA395962856 |
250 | W>* | No |
ClinGen TOPMed |
|
|
CA395962837 rs1351485388 |
251 | E>D | No |
ClinGen gnomAD |
|
|
rs187472781 CA8064538 |
252 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762929684 COSM1740261 CA8064537 |
255 | T>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs770171181 CA8064535 |
256 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA281448608 rs367621434 |
256 | Y>N | No |
ClinGen ESP |
|
|
CA8064533 rs776615377 |
259 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8064534 rs776615377 |
259 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA281448599 rs987729737 |
264 | M>V | No |
ClinGen TOPMed |
|
|
CA395962674 rs1267177268 |
266 | L>F | No |
ClinGen gnomAD |
|
|
CA281448597 rs867939797 |
267 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs747031959 CA8064532 |
269 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8064531 rs747031959 |
269 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771983647 CA8064529 |
273 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA395962580 CA395962584 rs1221983743 |
274 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs202005496 CA8064528 |
274 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA281448580 rs980943059 |
275 | H>D | No |
ClinGen Ensembl |
|
|
CA395962547 rs1300342719 |
276 | H>R | No |
ClinGen gnomAD |
|
|
CA8064527 rs778358370 |
277 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA281448044 rs529377634 |
283 | G>S | No |
ClinGen Ensembl |
|
|
rs1467236654 CA395962371 |
284 | N>T | No |
ClinGen gnomAD |
|
|
CA8064504 rs773904261 |
286 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs768126600 CA8064503 |
290 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768126600 CA395962284 |
290 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 293 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395962151 rs1280025394 CA395962150 |
297 | Q>H | No |
ClinGen TOPMed |
|
|
rs1375282454 CA395962126 |
299 | R>C | No |
ClinGen TOPMed |
|
|
rs749008653 CA8064502 |
299 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs779561530 CA8064501 |
301 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1226279790 CA395962072 |
303 | H>D | No |
ClinGen TOPMed |
|
|
CA395962066 rs1441864288 |
303 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 306 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8064498 rs778150651 |
307 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395961983 rs1283640910 |
307 | R>H | No |
ClinGen gnomAD |
|
|
rs201373259 CA8064497 |
310 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8064495 rs765477204 |
311 | R>Q | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs552799092 CA8064496 |
311 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs755093790 CA8064494 |
312 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1334244754 CA395961814 |
314 | N>D | No |
ClinGen gnomAD |
|
|
rs1397472616 COSM1609427 CA395961772 |
315 | Y>C | lung liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs753908507 CA8064493 |
317 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766511582 CA8064492 |
317 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA395961690 rs1297977252 |
319 | V>I | No |
ClinGen gnomAD |
|
|
rs1420646281 CA395961674 |
320 | G>E | No |
ClinGen gnomAD |
|
|
CA395961641 rs1382723707 |
322 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8064491 rs760906789 |
324 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA8064490 rs772907883 |
325 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs761585749 CA8064471 |
327 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375492835 CA281447559 |
328 | V>A | No |
ClinGen ESP TOPMed |
|
|
CA8064470 rs751299795 |
332 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8064469 rs764024142 |
334 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395960865 rs1427662536 |
336 | V>I | No |
ClinGen TOPMed |
|
|
rs1167097105 CA395960847 |
337 | N>H | No |
ClinGen TOPMed |
|
|
rs1341972825 CA395960836 |
337 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8064467 rs774911930 |
338 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA8064468 rs774911930 |
338 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1332203164 CA395960801 |
339 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 340 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8064466 rs769316964 |
340 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 342 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8064463 rs151301190 CA8064464 |
346 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395960667 rs1171466371 |
346 | D>G | No |
ClinGen gnomAD |
|
|
CA8064462 rs202121611 |
348 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8064461 rs200259295 |
349 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA281447540 rs200259295 |
349 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1157300144 CA395960607 |
350 | A>P | No |
ClinGen gnomAD |
|
|
CA395960601 rs1477544621 |
350 | A>V | No |
ClinGen gnomAD |
|
|
CA8064460 rs769305833 COSM191906 |
351 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8064457 rs756216374 COSM1182672 |
352 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8064458 rs780042504 |
352 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150798359 CA8064456 |
353 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs150798359 CA395960562 |
353 | K>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1308925422 CA395960551 |
354 | L>M | No |
ClinGen gnomAD |
|
|
rs372095095 CA8064455 |
355 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 357 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395960459 rs1218257208 |
359 | L>F | No |
ClinGen gnomAD |
|
|
CA395960461 rs1218257208 |
359 | L>V | No |
ClinGen gnomAD |
|
|
rs1292979336 CA395959186 |
363 | S>F | No |
ClinGen TOPMed |
|
|
rs1310564641 CA395959180 |
364 | C>S | No |
ClinGen gnomAD |
|
|
rs745966114 CA395959158 |
366 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745966114 CA8064436 |
366 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 376 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283667993 CA395959006 |
380 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1449103894 CA395959000 |
381 | S>Y | No |
ClinGen gnomAD |
|
|
CA395958995 rs1195373406 |
382 | L>F | No |
ClinGen TOPMed |
|
|
rs868850978 CA281461730 |
385 | A>T | No |
ClinGen Ensembl |
|
|
rs376126542 CA8064433 COSM971662 |
386 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA395958961 rs1567516026 |
387 | N>S | No |
ClinGen Ensembl |
|
|
rs187702687 CA8064432 |
389 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 390 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8064429 CA395958934 rs765222433 |
391 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8064430 rs559235719 |
391 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1180716667 CA395958924 |
393 | E>Q | No |
ClinGen gnomAD |
|
|
rs754828852 CA8064428 |
394 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395958896 rs1382364091 |
397 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 401 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1488194879 CA395958854 |
402 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753416488 CA8064427 |
402 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA281461689 rs940800699 |
404 | V>L | No |
ClinGen Ensembl |
|
|
CA395958836 rs1242392328 |
405 | P>S | No |
ClinGen gnomAD |
|
|
CA8064426 rs765961894 |
406 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs760448090 CA8064425 |
407 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764613831 CA8064423 |
409 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA8064420 rs770366707 |
410 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1244213826 CA395958789 |
413 | P>S | No |
ClinGen TOPMed |
|
|
CA8064419 rs746312814 |
414 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395958764 rs1351663038 |
417 | Q>K | No |
ClinGen TOPMed |
|
|
CA395958755 rs1339670871 |
418 | H>Y | No |
ClinGen gnomAD |
|
|
CA395958713 rs1455298271 |
423 | H>R | No |
ClinGen gnomAD |
|
|
CA281461641 rs62035982 |
425 | D>Y | No |
ClinGen Ensembl |
|
|
rs1393940024 CA395958439 |
428 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 428 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276772500 CA395958424 |
430 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 431 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395958396 rs1313900274 |
434 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1596910762 CA395958388 |
435 | S>R | No |
ClinGen Ensembl |
|
|
CA8064388 rs756983668 |
437 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 439 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA281459939 rs1001558731 |
440 | V>M | No |
ClinGen Ensembl |
|
|
CA395958334 rs1423467246 |
443 | T>S | No |
ClinGen gnomAD |
|
|
CA8064385 rs200380370 |
445 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754134863 CA395958313 |
446 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA395958302 rs1211360303 |
448 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs761117811 CA8064382 |
449 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395958293 rs1215877770 |
450 | T>A | No |
ClinGen gnomAD |
|
|
rs139530029 CA8064381 |
450 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395958282 rs1241932870 |
451 | Q>H | No |
ClinGen gnomAD |
|
|
CA395958281 rs1339526362 |
452 | A>S | No |
ClinGen gnomAD |
|
|
CA395958274 rs1293577986 |
453 | S>G | No |
ClinGen gnomAD |
|
|
rs1596910645 CA395958266 |
454 | N>D | No |
ClinGen Ensembl |
|
|
rs762158280 CA8064379 |
458 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA281459900 rs370219059 |
460 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs761815566 CA8064360 |
461 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs762380239 CA281454681 |
462 | H>L | No |
ClinGen gnomAD |
|
|
rs774427539 CA8064359 |
462 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764446288 CA8064358 |
463 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474400860 CA395957293 |
465 | Q>E | No |
ClinGen TOPMed |
|
|
CA395957252 rs1214944180 |
467 | M>I | No |
ClinGen gnomAD |
|
|
CA395957157 rs1214774082 |
474 | H>R | No |
ClinGen gnomAD |
|
|
rs1341959964 CA395957147 |
475 | L>V | No |
ClinGen gnomAD |
|
|
rs1233174971 CA395957120 |
477 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1476987616 CA395957077 |
481 | Q>H | No |
ClinGen gnomAD |
|
|
CA8064351 rs746531745 |
483 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1399609784 CA395957058 |
484 | R>C | No |
ClinGen gnomAD |
|
|
rs777288075 CA8064350 |
484 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777288075 CA395957052 |
484 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA395957031 rs1287694420 |
486 | V>A | No |
ClinGen TOPMed |
|
|
CA8064348 rs747763305 |
490 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs780460697 CA8064347 |
494 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA395956885 rs750744117 |
497 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8064345 rs750744117 COSM273959 |
497 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1194982463 CA395956889 |
497 | R>W | No |
ClinGen gnomAD |
|
|
CA395956822 rs1439133146 |
502 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 503 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395956810 rs1276953002 |
503 | P>S | No |
ClinGen gnomAD |
|
|
rs1238567489 CA395956781 |
505 | Q>H | No |
ClinGen gnomAD |
|
|
CA281454629 rs751616370 |
505 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA8064342 rs751616370 |
505 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA395956663 rs768734279 |
506 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8064317 rs768734279 |
506 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8064318 rs202074356 |
506 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596894284 CA395956619 |
510 | I>V | No |
ClinGen Ensembl |
|
|
rs773117196 CA8064314 |
518 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8064313 rs771935701 |
520 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA395956477 rs1236765937 |
521 | P>L | No |
ClinGen TOPMed |
|
|
rs1207778284 CA395956482 |
521 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs761320091 CA8064312 |
522 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA395956463 rs1440237184 |
522 | S>R | No |
ClinGen TOPMed |
|
|
rs773814282 CA8064311 |
524 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA395956446 rs1337139753 |
524 | D>N | No |
ClinGen gnomAD |
|
|
rs1567505455 CA395956400 |
527 | E>* | No |
ClinGen Ensembl |
|
|
CA395956378 rs1360983546 |
528 | G>V | No |
ClinGen gnomAD |
|
|
rs1455589662 CA395956361 |
530 | T>A | No |
ClinGen gnomAD |
|
|
rs1236612124 CA395956346 |
531 | S>C | No |
ClinGen gnomAD |
|
|
rs546529393 CA281452360 |
534 | T>A | No |
ClinGen 1000Genomes |
|
|
rs760529496 CA395956206 |
534 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760529496 CA8064298 |
534 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761694034 CA8064295 |
535 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761694034 CA8064296 |
535 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8064293 rs201184108 |
536 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144358339 CA8064292 |
536 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775195940 CA8064291 |
540 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8064290 rs769274825 |
544 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370746686 CA8064289 |
544 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373344016 CA8064288 |
548 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA395956113 rs748633685 |
550 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs748633685 CA8064286 |
550 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs778922910 CA281452299 |
551 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8064284 rs755068171 |
552 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs149614022 CA8064282 |
553 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395956085 rs1596890700 |
554 | V>G | No |
ClinGen Ensembl |
|
|
rs138247111 CA8064281 |
556 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395956076 rs138247111 |
556 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750243649 CA8064280 |
558 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs761172267 CA281452286 |
561 | V>G | No |
ClinGen Ensembl |
|
|
CA8064279 rs767281747 |
562 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs751494058 CA395956015 |
564 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395956013 rs763570636 |
565 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8064275 rs762540065 COSM971659 |
565 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8064276 rs763570636 |
565 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395956012 rs1223587728 |
565 | E>V | No |
ClinGen TOPMed |
|
|
rs1378560642 CA395956007 |
566 | A>P | No |
ClinGen gnomAD |
|
|
rs764962608 CA8064274 |
567 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764962608 CA8064273 |
567 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395955989 rs1213114768 |
569 | S>N | No |
ClinGen TOPMed |
|
|
CA395955982 rs1419932705 |
570 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA281452264 rs995498781 |
570 | R>H | No |
ClinGen TOPMed |
|
|
rs1180317441 CA395955969 |
572 | S>A | No |
ClinGen gnomAD |
|
|
CA395955961 rs1436681806 |
573 | K>R | No |
ClinGen gnomAD |
|
|
CA281452251 rs898495076 |
574 | S>F | No |
ClinGen Ensembl |
|
|
CA8064270 rs772556860 |
576 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1378595205 CA395955929 |
578 | R>K | No |
ClinGen gnomAD |
|
|
CA395955924 rs1211581817 |
579 | Q>E | No |
ClinGen gnomAD |
|
|
rs1349895448 CA395955914 |
580 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1349895448 CA395955915 |
580 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1258439560 COSM1378460 CA395955913 |
580 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA395955911 rs1258439560 |
580 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8064269 rs748719351 |
581 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA395955899 rs1335808336 |
582 | L>P | No |
ClinGen gnomAD |
|
|
rs1308746346 CA395955881 |
585 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1412533092 CA395955880 |
585 | R>H | No |
ClinGen gnomAD |
|
|
CA395955870 rs1355284089 |
586 | K>N | No |
ClinGen gnomAD |
|
|
rs76955156 CA8064268 |
587 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779952471 CA8064265 |
588 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs779952471 CA8064266 |
588 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA395955847 rs1383383176 |
590 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8064264 rs369160515 |
591 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA281452221 rs1007403856 |
591 | Q>H | No |
ClinGen Ensembl |
|
|
rs1348637316 CA395955833 |
592 | Q>R | No |
ClinGen TOPMed |
|
|
CA8064263 rs746062824 |
594 | R>C | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8064262 rs781032837 |
594 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA8064248 rs763349779 COSM1182671 |
596 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1308611658 CA395955785 |
598 | L>S | No |
ClinGen gnomAD |
|
|
rs775682761 CA8064247 |
599 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1567502820 CA395955770 |
600 | K>R | No |
ClinGen Ensembl |
|
|
CA8064245 rs141822024 |
601 | S>T | No |
ClinGen ESP ExAC |
|
|
CA281451716 rs371195118 |
602 | S>F | No |
ClinGen ESP gnomAD |
|
|
CA8064243 rs771076863 |
605 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_035790 CA8064244 COSM32810 rs373191257 |
605 | D>V | breast a breast cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA395955729 rs371217450 |
606 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371217450 CA8064241 |
606 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777406344 CA8064240 |
607 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA395955717 rs1228811447 |
608 | S>L | No |
ClinGen gnomAD |
|
|
rs754545318 CA8064236 |
613 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754545318 CA395955682 |
613 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8064234 rs766159022 |
614 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395955673 rs1408414612 |
615 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs760199296 CA8064233 |
616 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138682084 CA8064232 |
617 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8064230 rs558619605 |
618 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395955657 rs558619605 |
618 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775848543 CA8064229 |
619 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395955643 rs1596889446 |
620 | D>A | No |
ClinGen Ensembl |
|
|
rs1253081413 CA395955633 |
622 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1223395210 CA395955615 |
625 | R>C | No |
ClinGen gnomAD |
|
|
rs759617526 CA8064227 |
625 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA8064226 rs776654452 |
626 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8064225 rs200320761 |
626 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1342118061 CA395955605 |
627 | R>M | No |
ClinGen gnomAD |
|
|
rs1278861908 CA395955595 |
628 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA395955587 rs1234194548 |
630 | A>T | No |
ClinGen gnomAD |
|
|
rs747167232 CA8064224 |
630 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs941073221 CA281451618 |
632 | A>T | No |
ClinGen Ensembl |
|
|
rs1288021595 CA395955572 |
633 | A>T | No |
ClinGen TOPMed |
|
|
CA8064222 rs771750137 |
633 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754922563 CA8064219 |
635 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs145747194 CA8064220 |
635 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395955548 rs1487627493 |
637 | L>V | No |
ClinGen gnomAD |
|
|
rs753418518 CA8064218 |
638 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs762776771 CA8064217 |
639 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA395955527 rs1232716103 |
640 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8064215 rs750043281 |
641 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs764581795 CA8064214 |
642 | T>P | No |
ClinGen ExAC |
|
|
CA8064213 rs199784409 |
643 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with Q9UKV5
4 regional properties for Q9UKV5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| binding_site | Oxygen oxidoreductase covalent FAD-binding site | 30 - 63 | IPR006093 |
| domain | FAD linked oxidase, N-terminal | 30 - 178 | IPR006094 |
| domain | D-arabinono-1,4-lactone oxidase, C-terminal domain | 202 - 551 | IPR007173 |
| domain | FAD-binding domain, PCMH-type | 26 - 209 | IPR016166 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.36 | Aminoacyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
16 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| Derlin-1 retrotranslocation complex | A protein complex that functions in the retrotranslocation step of ERAD (ER-associated protein degradation), and includes at its core Derlin-1 oligomers forming a retrotranslocation channel. |
| 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. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
| 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. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| ubiquitin ligase complex | A protein complex that includes a ubiquitin-protein ligase and enables ubiquitin protein ligase activity. The complex also contains other proteins that may confer substrate specificity on the complex. |
11 GO annotations of molecular function
| Name | Definition |
|---|---|
| BAT3 complex binding | Binding to a BAT3 complex. |
| chaperone binding | Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport. |
| identical protein binding | Binding to an identical protein or proteins. |
| metal ion binding | Binding to a metal ion. |
| protein-macromolecule adaptor activity | The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid. |
| signaling receptor activity | Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. |
| ubiquitin binding | Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation. |
| 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. |
| ubiquitin-ubiquitin ligase activity | Isoenergetic transfer of ubiquitin from one protein to an existing ubiquitin chain via the reaction X-ubiquitin + Y-ubiquitin -> Y-ubiquitin-ubiquitin + X, where both the X-ubiquitin and Y-ubiquitin-ubiquitin linkages are thioester bonds between the C-terminal glycine of ubiquitin and a sulfhydryl side group of a cysteine residue. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| aging | A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). |
| endoplasmic reticulum mannose trimming | Any protein alpha-1,2-demannosylation that takes place in the endoplasmic reticulum quality control compartment (ERQC). |
| endoplasmic reticulum unfolded protein response | The series of molecular signals generated as a consequence of the presence of unfolded proteins in the endoplasmic reticulum (ER) or other ER-related stress; results in changes in the regulation of transcription and translation. |
| learning or memory | The acquisition and processing of information and/or the storage and retrieval of this information over time. |
| negative regulation of canonical Wnt signaling pathway | Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| positive regulation of protein binding | Any process that activates or increases the frequency, rate or extent of protein binding. |
| protein autoubiquitination | The ubiquitination by a protein of one or more of its own amino acid residues, or residues on an identical protein. Ubiquitination occurs on the lysine residue by formation of an isopeptide crosslink. |
| 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 polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| regulation of SREBP signaling pathway | Any process that modulates the frequency, rate or extent of the SREBP signaling pathway. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| 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. |
| 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 a ubiquitin group, or multiple ubiquitin groups, to the protein. |
| Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8WU17 | RNF139 | E3 ubiquitin-protein ligase RNF139 | Homo sapiens (Human) | PR |
| Q5M7Z0 | RNFT1 | E3 ubiquitin-protein ligase RNFT1 | Homo sapiens (Human) | PR |
| Q9DCN7 | Rnft1 | E3 ubiquitin-protein ligase RNFT1 | Mus musculus (Mouse) | PR |
| Q7TMV1 | Rnf139 | E3 ubiquitin-protein ligase RNF139 | Mus musculus (Mouse) | PR |
| Q9R049 | Amfr | E3 ubiquitin-protein ligase AMFR | Mus musculus (Mouse) | PR |
| P90859 | F26E4.3 | E3 ubiquitin-protein ligase hrd-like protein 1 | Caenorhabditis elegans | PR |
| Q7ZWF4 | rnf145 | RING finger protein 145 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| A5WW08 | chfr | E3 ubiquitin-protein ligase CHFR | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPLLFLERFP | WPSLRTYTGL | SGLALLGTII | SAYRALSQPE | AGPGEPDQLT | ASLQPEPPAP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ARPSAGGPRA | RDVAQYLLSD | SLFVWVLVNT | ACCVLMLVAK | LIQCIVFGPL | RVSERQHLKD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KFWNFIFYKF | IFIFGVLNVQ | TVEEVVMWCL | WFAGLVFLHL | MVQLCKDRFE | YLSFSPTTPM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SSHGRVLSLL | VAMLLSCCGL | AAVCSITGYT | HGMHTLAFMA | AESLLVTVRT | AHVILRYVIH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LWDLNHEGTW | EGKGTYVYYT | DFVMELTLLS | LDLMHHIHML | LFGNIWLSMA | SLVIFMQLRY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LFHEVQRRIR | RHKNYLRVVG | NMEARFAVAT | PEELAVNNDD | CAICWDSMQA | ARKLPCGHLF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HNSCLRSWLE | QDTSCPTCRM | SLNIADNNRV | REEHQGENLD | ENLVPVAAAE | GRPRLNQHNH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FFHFDGSRIA | SWLPSFSVEV | MHTTNILGIT | QASNSQLNAM | AHQIQEMFPQ | VPYHLVLQDL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QLTRSVEITT | DNILEGRIQV | PFPTQRSDSI | RPALNSPVER | PSSDQEEGET | SAQTERVPLD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LSPRLEETLD | FGEVEVEPSE | VEDFEARGSR | FSKSADERQR | MLVQRKDELL | QQARKRFLNK |
| 610 | 620 | 630 | 640 | ||
| SSEDDAASES | FLPSEGASSD | PVTLRRRMLA | AAAERRLQKQ | QTS |