Q8IYB8
PR
Gene name |
SUPV3L1 (SUV3) |
Protein name |
ATP-dependent RNA helicase SUPV3L1, mitochondrial |
Names |
Suppressor of var1 3-like protein 1, SUV3-like protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6832 |
EC number |
3.6.4.13: Acting on ATP; involved in cellular and subcellular movement |
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
4 structures for Q8IYB8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3RC3 | X-ray | 208 A | A | 47-722 | PDB |
| 3RC8 | X-ray | 290 A | A | 47-722 | PDB |
| 7W1R | X-ray | 320 A | A | 49-722 | PDB |
| AF-Q8IYB8-F1 | Predicted | AlphaFoldDB |
551 variants for Q8IYB8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs33998366 CA5530379 VAR_061214 |
2 | S>F | No |
ClinGen UniProt 1000Genomes ESP TOPMed dbSNP gnomAD |
|
|
rs33998366 CA376908204 |
2 | S>Y | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA376908211 rs1301049013 |
3 | F>L | No |
ClinGen gnomAD |
|
|
CA5530384 rs756564151 |
4 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756564151 CA5530383 |
4 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530382 rs753295339 |
4 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530385 rs754199713 |
5 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA209207083 rs757576646 |
6 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530387 rs757576646 |
6 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530386 rs757576646 |
6 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA376908223 rs1284322599 |
6 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA209207086 rs755451450 |
8 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA209207087 rs991341104 |
9 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA376908251 rs1189735669 |
11 | R>Q | No |
ClinGen gnomAD |
|
|
CA5530392 rs769555063 |
12 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 12 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773002459 CA5530393 |
13 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373518473 CA5530395 |
15 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1397363680 CA376908288 |
17 | Q>H | No |
ClinGen gnomAD |
|
|
CA376908281 rs1393916389 |
17 | Q>K | No |
ClinGen gnomAD |
|
|
CA5530398 rs767113020 |
18 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1343565419 CA376908293 |
18 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761259439 CA5530400 |
20 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5530399 rs774856976 |
20 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530401 rs764648638 |
21 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530402 rs754287412 |
21 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376908306 rs764648638 |
21 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202328891 CA376908317 |
23 | A>T | No |
ClinGen gnomAD |
|
|
CA5530404 rs765678459 |
23 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750719255 CA5530405 |
25 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376908358 rs1444029500 |
26 | S>F | No |
ClinGen TOPMed |
|
|
CA209207092 rs779409047 |
27 | A>S | No |
ClinGen gnomAD |
|
|
rs758548235 CA5530406 |
28 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs971314334 CA209207094 |
28 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs971314334 CA376908385 |
28 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5530409 rs199886131 |
29 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199886131 CA5530408 |
29 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780188458 CA5530407 |
29 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA5530411 rs34596380 |
30 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34596380 CA5530410 VAR_037076 |
30 | P>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5530412 rs770762079 |
32 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5530414 rs370604365 |
34 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1295313686 CA376908455 |
36 | P>S | No |
ClinGen gnomAD |
|
|
CA376908466 rs1195140151 |
38 | V>L | No |
ClinGen gnomAD |
|
|
rs768249913 CA5530418 |
41 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs768249913 CA5530419 |
41 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs765768178 CA5530421 |
42 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762400631 CA5530420 |
42 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA209207101 rs373167154 |
43 | S>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5530422 rs750689263 |
45 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376908503 rs750689263 |
45 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750689263 CA376908504 |
45 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766460043 CA5530424 |
46 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753829450 CA376908522 |
48 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530427 rs781223381 |
48 | A>T | No |
ClinGen ExAC |
|
|
CA5530428 rs753829450 |
48 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376908523 rs1479225844 |
49 | S>A | No |
ClinGen gnomAD |
|
|
rs778772066 CA5530430 |
50 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs932788574 CA209207103 |
50 | S>P | No |
ClinGen Ensembl |
|
|
rs778772066 CA376908531 |
50 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376908537 rs1388645569 |
51 | S>C | No |
ClinGen gnomAD |
|
|
CA5530431 rs745590053 |
52 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA376908543 rs1288855422 |
52 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1049896247 CA209207107 |
53 | S>C | No |
ClinGen Ensembl |
|
|
CA5530433 rs377402124 |
54 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376908553 rs1345137941 |
54 | G>V | No |
ClinGen gnomAD |
|
|
rs746653099 CA5530434 |
55 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5530436 rs776281083 |
56 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5530437 rs147077704 |
57 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770369517 CA5530438 |
58 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209207117 rs902838775 |
59 | P>A | No |
ClinGen Ensembl |
|
|
CA5530439 rs570536665 |
59 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs998559211 CA209207122 |
61 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5530441 rs766731037 |
62 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs774482353 CA5530442 |
64 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5530443 rs759740138 |
64 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs767650040 CA5530444 |
65 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs767650040 CA376908612 |
65 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA5530445 rs752705209 |
66 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192081333 CA376908627 |
68 | T>P | No |
ClinGen Ensembl |
|
|
CA376908662 rs201283581 |
73 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5530448 rs201283581 |
73 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750344896 CA5530450 |
74 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5530449 rs750344896 |
74 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA376908685 rs1310145679 |
77 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA376908687 rs1310145679 |
77 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1487660738 CA376908695 |
78 | G>C | No |
ClinGen TOPMed |
|
|
rs1260878006 CA376908696 |
78 | G>D | No |
ClinGen TOPMed |
|
|
CA376908699 rs779886583 |
79 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5530451 rs779886583 |
79 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5530452 rs746728541 |
80 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs754614807 CA5530453 |
82 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5530456 CA209207139 rs770452955 |
83 | E>D | No |
ClinGen ExAC |
|
|
rs747615570 CA5530455 |
83 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773629662 CA5530457 |
85 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA376908732 rs1207007322 |
85 | T>P | No |
ClinGen gnomAD |
|
|
CA376908738 rs1174995057 |
86 | R>W | No |
ClinGen gnomAD |
|
|
CA5530461 rs759758443 |
87 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA376908745 rs759758443 |
87 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs774772674 CA5530460 |
87 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376908750 rs1385140517 |
88 | L>P | No |
ClinGen gnomAD |
|
|
rs760786307 CA5530464 |
90 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530465 rs764211915 |
90 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750386204 CA5530466 |
90 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs758356030 CA5530467 |
91 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs759441942 CA5530488 |
95 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767396606 CA5530489 |
96 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1211440976 CA376897758 |
99 | K>E | No |
ClinGen TOPMed |
|
|
CA209212852 rs915947708 |
101 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA209212853 rs973599007 |
103 | R>G | No |
ClinGen TOPMed |
|
|
rs1219323771 CA376897790 |
103 | R>T | No |
ClinGen TOPMed |
|
|
CA5530492 rs777152297 |
105 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1475321467 CA376897816 |
107 | Q>K | No |
ClinGen gnomAD |
|
|
CA376897860 rs1320017525 |
111 | A>S | No |
ClinGen TOPMed |
|
|
CA5530494 rs183855905 |
117 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5530511 rs756842441 |
117 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs540018849 CA209212911 COSM1228025 |
118 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA5530512 rs778381042 |
118 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 119 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398824941 CA376898196 |
125 | I>M | No |
ClinGen gnomAD |
|
|
CA5530515 rs780413440 |
128 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 129 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747352753 CA5530516 |
129 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530517 rs768796377 |
130 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770052590 CA5530520 |
132 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 134 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376898491 rs1292637441 |
138 | D>G | No |
ClinGen gnomAD |
|
|
rs1232093340 CA376898562 |
143 | I>S | No |
ClinGen Ensembl |
|
|
rs745801552 CA5530522 |
143 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs932918142 CA209212914 |
144 | V>I | No |
ClinGen Ensembl |
|
|
rs1440825709 CA376898594 |
145 | L>F | No |
ClinGen TOPMed |
|
|
CA376898591 rs1306392805 |
145 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA376898647 rs1484133937 |
148 | I>L | No |
ClinGen gnomAD |
|
|
rs374862991 CA209212915 |
148 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs910204829 CA209212916 |
149 | C>Y | No |
ClinGen Ensembl |
|
|
rs568133891 CA376898710 |
151 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568133891 CA376898708 |
151 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5530524 rs568133891 |
151 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1336766297 CA376898931 |
154 | H>L | No |
ClinGen gnomAD |
|
|
rs1262479457 CA376898926 |
154 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5530545 rs370182500 |
155 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5530544 rs370182500 |
155 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376898969 rs1367870877 |
156 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 156 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772742012 CA5530548 |
160 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5530549 rs141575091 |
161 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 162 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5530551 rs752162947 |
169 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376899220 TCGA novel rs1201768285 |
170 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA209213033 rs999760115 |
172 | V>L | No |
ClinGen Ensembl |
|
|
CA209213035 rs955662345 |
176 | K>R | No |
ClinGen Ensembl |
|
|
CA5530552 rs374901378 |
180 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5530553 rs767927096 |
180 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209213036 rs938836168 |
183 | S>G | No |
ClinGen TOPMed |
|
|
rs1192159390 CA376899576 |
185 | L>* | No |
ClinGen gnomAD |
|
|
CA593832619 rs1371012090 |
186 | R>I* | No |
ClinGen gnomAD |
|
|
CA209213038 rs778460036 |
187 | I>L | No |
ClinGen gnomAD |
|
|
CA5530554 rs752943377 |
187 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209213040 rs892037471 |
189 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753141164 CA5530571 |
193 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA209213224 rs998030325 |
195 | A>S | No |
ClinGen gnomAD |
|
|
rs998030325 CA376901098 |
195 | A>T | No |
ClinGen gnomAD |
|
|
CA5530574 rs370504359 |
197 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779064732 CA5530576 |
198 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374960041 CA5530575 |
198 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 199 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 199 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1025334579 CA209213229 |
200 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs759123018 CA209213227 |
200 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5530577 rs750422829 |
202 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1589379880 CA376901215 |
203 | I>M | No |
ClinGen Ensembl |
|
|
rs1291749268 CA376901206 |
203 | I>V | No |
ClinGen TOPMed |
|
|
CA376901383 rs1230552360 |
216 | H>Y | No |
ClinGen TOPMed |
|
|
CA376901396 rs1181789061 |
217 | A>T | No |
ClinGen gnomAD |
|
|
rs1362542053 CA376901435 |
219 | Q>R | No |
ClinGen gnomAD |
|
|
rs1325351080 CA376901467 |
221 | Y>F | No |
ClinGen TOPMed |
|
|
rs748060028 CA5530580 |
221 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA5530581 rs769638634 |
225 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376901523 rs1422909124 |
227 | G>E | No |
ClinGen gnomAD |
|
|
rs1299971385 CA376901535 |
228 | V>M | No |
ClinGen gnomAD |
|
|
rs1351894985 CA376901560 |
229 | Y>C | No |
ClinGen TOPMed |
|
|
CA5530582 rs777537405 |
229 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs956614180 CA209213240 |
238 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5530586 rs758928119 |
238 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209213242 rs752976614 |
240 | I>N | No |
ClinGen Ensembl |
|
|
COSM3807552 CA5530588 rs776187314 |
242 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5530589 rs761250024 |
243 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564702520 CA376901848 |
245 | N>D | No |
ClinGen Ensembl |
|
|
CA376901892 rs764558841 |
246 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5530590 rs764558841 |
246 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5530614 COSM1348773 rs146272231 |
248 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1188615554 CA376903621 |
248 | G>R | No |
ClinGen gnomAD |
|
|
CA5530615 rs762128213 |
252 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530618 rs763235953 |
259 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA209213734 rs562590057 |
259 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1289181355 CA376903964 |
260 | V>A | No |
ClinGen gnomAD |
|
|
rs964604662 CA376903958 |
260 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs964604662 CA209213736 |
260 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA209213739 rs766447332 |
261 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766447332 CA5530619 |
261 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376904025 rs1284797756 |
263 | Q>R | No |
ClinGen gnomAD |
|
|
CA5530621 rs142675668 |
265 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376904078 rs1283156481 |
265 | N>S | No |
ClinGen TOPMed |
|
|
rs763977147 CA5530622 |
268 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376904169 rs1368542623 |
269 | A>S | No |
ClinGen gnomAD |
|
|
CA5530623 rs753775605 |
271 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1213844123 CA376904329 |
276 | V>A | No |
ClinGen gnomAD |
|
|
rs1046097806 CA376904350 |
278 | M>L | No |
ClinGen gnomAD |
|
|
rs1046097806 CA209213744 |
278 | M>V | No |
ClinGen gnomAD |
|
|
CA5530624 rs757050054 |
279 | C>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 279 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5530625 rs778755713 |
281 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA209213747 rs780611157 |
283 | T>S | No |
ClinGen Ensembl |
|
|
CA376904410 rs1589381597 |
283 | T>S | No |
ClinGen Ensembl |
|
|
rs1485744260 CA376904417 |
284 | P>R | No |
ClinGen gnomAD |
|
|
rs1157721526 CA376904920 |
286 | E>G | No |
ClinGen TOPMed |
|
|
CA376904894 rs1407617242 |
286 | E>K | No |
ClinGen Ensembl |
|
|
rs764955749 CA5530648 |
289 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA376904970 rs1420062855 |
289 | V>I | No |
ClinGen TOPMed |
|
|
rs917236757 CA209214467 |
291 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 292 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200136140 CA209214470 |
296 | I>M | No |
ClinGen 1000Genomes |
|
|
rs373688153 CA5530649 |
296 | I>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA376905160 rs1407130554 |
297 | R>S | No |
ClinGen gnomAD |
|
|
rs758157021 CA5530650 |
299 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376905209 rs1165189264 |
300 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 300 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1365826847 CA376905336 |
308 | A>S | No |
ClinGen gnomAD |
|
|
rs150553861 CA5530651 |
308 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376905340 rs1355833391 |
309 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 311 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339256884 CA376905519 |
312 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5530671 rs551248547 |
313 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5530672 rs370698537 |
314 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs74909520 CA209214813 |
316 | E>K | No |
ClinGen Ensembl |
|
|
rs962389725 CA209214816 |
319 | L>F | No |
ClinGen Ensembl |
|
|
CA5530674 rs778381833 |
325 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs200013555 CA209214821 |
326 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5530675 rs749771288 |
326 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209214824 rs200013555 |
326 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA376905770 rs1456497278 |
327 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1205552704 CA376905810 |
330 | M>T | No |
ClinGen gnomAD |
|
|
CA376905823 rs1415693466 |
331 | E>D | No |
ClinGen TOPMed |
|
|
CA5530676 rs771340889 |
335 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530677 rs779243875 |
336 | T>A | No |
ClinGen ExAC TOPMed |
|
|
rs746095108 CA5530678 |
336 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA376905857 rs553468452 |
337 | G>R | No |
ClinGen 1000Genomes TOPMed |
|
|
CA209214846 rs553468452 |
337 | G>W | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1475503043 CA376905869 |
339 | E>K | No |
ClinGen gnomAD |
|
|
rs1420920223 CA376905879 |
340 | V>L | No |
ClinGen gnomAD |
|
|
rs1470662580 CA376905884 |
341 | E>Q | No |
ClinGen gnomAD |
|
|
rs780374184 CA5530697 |
343 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA376906370 rs1171333722 |
343 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5530698 rs747183620 |
345 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA209215134 rs968465097 |
345 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1297868747 CA376906422 |
346 | K>E | No |
ClinGen gnomAD |
|
|
rs1268897343 CA376906430 |
346 | K>R | No |
ClinGen TOPMed |
|
|
rs1289951935 CA376906477 |
352 | S>Y | No |
ClinGen gnomAD |
|
|
CA5530701 rs749247192 |
354 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 355 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376906504 rs1231060662 |
356 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs759448125 CA5530704 |
358 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA209215154 rs1042075220 |
359 | E>G | No |
ClinGen Ensembl |
|
|
rs879224363 CA209215151 |
359 | E>Q | No |
ClinGen Ensembl |
|
|
CA376906531 rs1316667181 |
361 | L>S | No |
ClinGen TOPMed |
|
|
CA376906539 rs1283477721 |
362 | D>G | No |
ClinGen gnomAD |
|
|
rs376727615 CA5530708 |
365 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1228024 rs527626577 CA5530707 |
365 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1415229314 CA376906589 |
370 | I>V | No |
ClinGen TOPMed |
|
|
rs757792592 CA5530710 |
371 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472919627 CA376906617 |
374 | S>C | No |
ClinGen TOPMed |
|
|
rs1239046269 CA376906619 |
374 | S>N | No |
ClinGen TOPMed |
|
|
rs1589386159 CA376906645 |
377 | D>V | No |
ClinGen Ensembl |
|
|
rs750906727 CA5530712 |
378 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs529822050 CA5530714 |
381 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 383 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372218148 CA5530715 |
383 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376906707 rs1464416365 |
386 | E>D | No |
ClinGen TOPMed |
|
|
CA5530716 rs747256767 |
388 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs374621272 CA5530718 |
389 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1272624950 CA376906722 |
389 | G>V | No |
ClinGen TOPMed |
|
|
CA209215181 rs1025320000 |
393 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs769967478 CA5530720 |
395 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1361326027 CA376906766 |
396 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs774481584 CA5530721 |
401 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756322168 CA5530738 |
402 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777997238 CA5530740 |
403 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs777997238 CA5530739 |
403 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA209215357 rs1053058395 |
403 | T>S | No |
ClinGen TOPMed |
|
|
CA376906899 rs1422223987 |
405 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs988036730 CA209215364 |
406 | A>D | No |
ClinGen Ensembl |
|
|
CA376906925 rs1242228004 |
407 | Q>E | No |
ClinGen TOPMed |
|
|
CA5530741 rs771848038 |
409 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1465149506 CA376906985 |
410 | K>T | No |
ClinGen gnomAD |
|
|
CA376907031 rs1168497158 |
412 | N>S | No |
ClinGen gnomAD |
|
|
rs1397518289 CA376907052 |
413 | D>G | No |
ClinGen TOPMed |
|
|
rs946990246 CA209215369 |
415 | N>K | No |
ClinGen TOPMed |
|
|
rs199507911 CA5530743 |
415 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1453138430 CA376907086 |
416 | D>H | No |
ClinGen gnomAD |
|
|
CA209215381 rs369492247 |
417 | P>L | No |
ClinGen ESP |
|
|
rs369492247 CA209215379 |
417 | P>R | No |
ClinGen ESP |
|
|
rs375180008 CA5530744 |
417 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA209215390 rs371797922 |
418 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5530747 rs371797922 |
418 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371797922 CA5530746 |
418 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 419 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs995804221 CA209215396 |
423 | A>V | No |
ClinGen TOPMed |
|
|
rs1167384834 CA376907218 |
425 | D>V | No |
ClinGen TOPMed |
|
|
CA5530748 rs148715762 |
427 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376907705 rs1301163791 |
435 | I>L | No |
ClinGen gnomAD |
|
|
rs1310853318 CA376907709 |
435 | I>M | No |
ClinGen gnomAD |
|
|
CA376907712 rs1292073028 |
436 | R>K | No |
ClinGen TOPMed |
|
|
rs760119016 CA5530771 |
440 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 441 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5530772 rs768000355 |
442 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376907754 rs1457584676 |
442 | S>P | No |
ClinGen TOPMed |
|
|
CA5530774 rs565635337 |
444 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565635337 CA209215776 |
444 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376907780 rs1271227860 |
446 | P>H | No |
ClinGen gnomAD |
|
|
rs1329384292 CA376907785 |
447 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5530776 rs754068044 |
447 | S>T | No |
ClinGen ExAC |
|
|
CA5530777 rs577129722 |
448 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765353374 CA5530778 |
449 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530782 rs147879097 |
459 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1304576839 CA376907898 |
463 | Q>H | No |
ClinGen gnomAD |
|
|
rs1365713818 CA376907899 |
464 | A>T | No |
ClinGen gnomAD |
|
|
CA376907908 rs1435090275 |
465 | L>P | No |
ClinGen gnomAD |
|
|
CA5530783 rs755867796 |
467 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA376907932 rs1262849504 |
469 | G>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 471 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368918225 CA5530784 |
475 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA209215797 rs770417431 |
477 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530786 rs770417431 |
477 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376907984 rs770417431 |
477 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530785 rs748960862 |
477 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238324157 CA376908007 |
480 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA376908005 rs1273749601 |
480 | E>G | No |
ClinGen TOPMed |
|
|
CA376908024 rs1299254757 |
483 | V>A | No |
ClinGen TOPMed |
|
|
rs773846894 CA5530787 |
483 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773846894 CA5530788 |
483 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530790 rs776029302 |
485 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530792 rs544531916 |
486 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5530793 rs776784045 |
487 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530794 rs376288995 |
489 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1054485283 CA209215825 |
489 | E>G | No |
ClinGen Ensembl |
|
|
CA376908061 rs1379527145 |
489 | E>K | No |
ClinGen gnomAD |
|
|
CA376908090 rs1370495020 |
493 | L>V | No |
ClinGen TOPMed |
|
|
rs765244465 CA5530795 |
496 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414019770 CA376908119 |
497 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 498 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376908142 rs1320953551 |
500 | R>K | No |
ClinGen gnomAD |
|
|
rs1414555343 CA376908148 |
501 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 501 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348655726 CA376908155 |
502 | V>L | No |
ClinGen gnomAD |
|
|
rs750450213 CA209215830 |
503 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA376908173 rs772047938 |
505 | I>L | No |
ClinGen gnomAD |
|
|
rs1473035356 CA376908176 |
505 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA209215834 rs772047938 |
505 | I>V | No |
ClinGen gnomAD |
|
|
CA376908184 rs1173299659 |
506 | R>S | No |
ClinGen TOPMed |
|
|
rs1377976588 CA376908783 |
507 | A>V | No |
ClinGen TOPMed |
|
|
CA5530819 rs200804338 |
508 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 508 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763065756 CA5530820 |
514 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530821 rs542151671 |
517 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1005465161 CA209216718 |
519 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA376908866 rs1280006855 |
520 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5530823 rs201057336 |
522 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530825 rs753621313 |
525 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA209216721 rs531105580 |
526 | D>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA376908907 rs531105580 |
526 | D>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA376908915 rs1362639109 |
527 | A>G | No |
ClinGen gnomAD |
|
|
CA376908914 rs1362639109 |
527 | A>V | No |
ClinGen gnomAD |
|
|
rs778748267 CA5530827 |
528 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs758048392 CA5530829 |
530 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs111423482 CA209216733 |
530 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 532 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376908951 rs1344090024 |
533 | I>M | No |
ClinGen gnomAD |
|
|
CA376908950 rs1275351539 |
533 | I>T | No |
ClinGen gnomAD |
|
|
CA376908969 rs1332437443 |
534 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 536 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196398843 CA376908985 |
536 | F>S | No |
ClinGen TOPMed |
|
|
rs765118848 CA5530847 |
541 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs878942099 CA209216875 |
541 | Q>R | No |
ClinGen Ensembl |
|
|
rs1268683299 CA376909164 |
551 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 552 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5530848 rs750104968 |
552 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA376909243 rs1382615985 |
556 | F>L | No |
ClinGen gnomAD |
|
|
rs751036839 CA5530851 |
561 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA5530850 rs186986209 |
561 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745657936 CA209216886 |
565 | P>T | No |
ClinGen Ensembl |
|
|
rs754412023 CA5530852 |
567 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs781745108 CA5530853 |
569 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA376909329 rs748585973 |
569 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3764260 rs748585973 CA5530854 |
569 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1187956 rs1343410581 CA376909330 |
570 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA209216889 rs1029809871 |
571 | R>K | No |
ClinGen Ensembl |
|
|
rs749528104 CA5530857 |
576 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376909380 rs1332949098 |
577 | A>V | No |
ClinGen TOPMed |
|
|
rs1377427026 CA376909393 |
579 | I>T | No |
ClinGen gnomAD |
|
|
CA376909398 rs1445731231 |
580 | N>D | No |
ClinGen gnomAD |
|
|
rs771095548 CA5530858 |
580 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs774447483 CA5530859 |
581 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 582 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5530862 rs776689060 |
587 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761588687 CA5530863 |
588 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA209216914 rs1019884036 |
592 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1297376846 CA376910082 |
594 | A>V | No |
ClinGen TOPMed |
|
|
rs1424255667 CA376910083 |
595 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1049845590 CA209218559 |
597 | Y>C | No |
ClinGen TOPMed |
|
|
rs375813328 CA209218561 |
598 | S>R | No |
ClinGen Ensembl |
|
|
CA209218563 rs910568030 |
602 | P>L | No |
ClinGen Ensembl |
|
|
rs1168434360 CA376910183 |
602 | P>S | No |
ClinGen gnomAD |
|
|
rs1368746933 CA376910242 |
607 | W>R | No |
ClinGen TOPMed |
|
|
rs201773412 CA5530883 |
609 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs976140196 CA209218568 |
609 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs574864266 CA5530885 |
610 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574864266 CA209218572 |
610 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA376910303 rs934816984 |
612 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA209218577 rs934816984 |
612 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs141062949 CA5530887 |
613 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752102880 CA5530888 |
614 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1218622517 CA376910395 |
617 | L>F | No |
ClinGen gnomAD |
|
|
CA5530890 rs764627572 |
619 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1047892223 CA209218588 |
621 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1219068992 CA376910570 |
627 | D>N | No |
ClinGen gnomAD |
|
|
rs754322999 CA5530891 |
630 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs150112121 CA5530893 |
633 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376910882 rs1427134147 |
638 | Y>C | No |
ClinGen gnomAD |
|
|
CA376910911 rs1433583023 |
639 | L>S | No |
ClinGen gnomAD |
|
|
rs1175023860 CA376910982 |
641 | L>P | No |
ClinGen gnomAD |
|
|
CA376911001 rs1421207105 |
642 | S>N | No |
ClinGen gnomAD |
|
|
rs750670256 CA5530894 |
642 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765654454 CA5530910 |
643 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405534984 CA376911472 |
644 | R>* | No |
ClinGen gnomAD |
|
|
rs202133775 CA5530911 |
644 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs984672127 CA209218778 |
645 | F>S | No |
ClinGen TOPMed |
|
|
CA5530912 rs758757942 |
646 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209218783 rs1031699079 |
646 | M>T | No |
ClinGen Ensembl |
|
|
CA5530913 rs780184793 |
647 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA209218791 rs751814762 |
648 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751814762 CA5530914 |
648 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201173111 CA209218794 |
649 | F>C | No |
ClinGen 1000Genomes |
|
|
CA376911513 rs1233692428 |
650 | P>S | No |
ClinGen TOPMed |
|
|
rs200270601 CA5530915 |
651 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1293437256 CA376911537 |
653 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs937577045 CA209218801 |
654 | L>V | No |
ClinGen TOPMed |
|
|
CA376911547 rs1278286879 |
655 | I>T | No |
ClinGen TOPMed |
|
|
rs138556709 CA5530916 |
656 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM919878 rs1449414158 CA376911551 |
656 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1266746422 CA376911554 |
657 | D>N | No |
ClinGen TOPMed |
|
|
CA376911564 rs1226093472 |
658 | L>F | No |
ClinGen TOPMed |
|
|
rs1564716448 CA376911572 |
659 | Q>R | No |
ClinGen Ensembl |
|
|
CA376911608 rs1292195313 |
664 | G>D | No |
ClinGen gnomAD |
|
|
CA5530919 rs145201445 |
666 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745694115 CA5530920 |
667 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1271159525 CA376911631 |
668 | D>N | No |
ClinGen gnomAD |
|
|
rs370048763 CA5530922 |
669 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5530924 rs768639246 |
672 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209218823 rs192061774 |
674 | T>I | No |
ClinGen 1000Genomes |
|
|
rs776068571 CA5530925 |
674 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1245423684 CA376911697 |
677 | I>T | No |
ClinGen gnomAD |
|
|
CA5530926 rs762411576 |
678 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA376911722 rs1404212496 |
679 | M>T | No |
ClinGen gnomAD |
|
|
CA376911734 rs1164874517 |
680 | S>A | No |
ClinGen gnomAD |
|
|
CA5530927 rs765703726 |
680 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs750919497 CA5530928 |
682 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751833290 CA5530931 |
683 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs28932172 CA5530934 |
692 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA209218838 rs28932172 |
692 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs28932172 CA209218841 |
692 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376911839 rs1358755524 |
692 | P>S | No |
ClinGen gnomAD |
|
|
CA209218846 rs372711916 |
694 | G>R | No |
ClinGen ESP |
|
|
rs1271219722 CA376911920 |
697 | S>L | No |
ClinGen gnomAD |
|
|
rs1054012662 CA376911933 |
698 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA209218849 rs1054012662 |
698 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5530938 rs758194309 |
700 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs746684659 CA5530940 |
702 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1472192940 CA376912032 |
704 | K>Q | No |
ClinGen gnomAD |
|
|
CA5530941 rs768255427 |
705 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5530942 rs370657076 |
706 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376912105 rs1479129154 |
707 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5530943 rs747659952 |
708 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376912203 rs1408544878 |
709 | R>S | No |
ClinGen gnomAD |
|
|
rs1359915529 CA376912226 |
710 | T>R | No |
ClinGen gnomAD |
|
|
CA376912212 rs1336437835 |
710 | T>S | No |
ClinGen gnomAD |
|
|
CA5530946 rs201987781 |
711 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5530947 rs766861162 |
711 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201953351 CA5530949 |
712 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs965380763 CA209218883 |
714 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs767896057 CA5530950 |
715 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA209218891 rs998160443 |
718 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs756206584 CA5530952 |
718 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs750334867 CA5530954 |
720 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs779854894 CA5530956 |
721 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs11557286 CA209218904 |
722 | E>G | No |
ClinGen Ensembl |
|
|
rs187579657 CA376912617 |
726 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187579657 CA5530958 |
726 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 726 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144175199 CA5530960 |
727 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200900544 CA5530961 |
728 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 729 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5530962 rs376812010 |
730 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5530964 rs771528232 |
734 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs774970057 CA5530965 |
736 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs760031431 CA5530966 |
738 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA376912797 rs1188313115 |
739 | Q>R | No |
ClinGen TOPMed |
|
|
rs1486519040 CA376912819 |
740 | Q>R | No |
ClinGen TOPMed |
|
|
CA5530969 rs775642378 |
742 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA376912864 rs1287685239 |
742 | L>R | No |
ClinGen gnomAD |
|
|
rs1390094703 CA376912891 |
743 | L>P | No |
ClinGen gnomAD |
|
|
rs764097287 CA5530971 |
744 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs753907532 CA5530972 |
745 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1247715194 CA376912969 |
748 | L>V | No |
ClinGen gnomAD |
|
|
CA376913038 rs1454083602 |
752 | E>G | No |
ClinGen gnomAD |
|
|
rs766353155 CA5530974 |
753 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1382349617 CA376913059 |
754 | E>K | No |
ClinGen gnomAD |
|
|
CA376913088 rs1217374137 |
755 | W>* | No |
ClinGen TOPMed |
|
|
CA376913087 rs1420395393 |
755 | W>L | No |
ClinGen gnomAD |
|
|
rs150771853 CA5530975 |
756 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376913155 rs1382871386 |
759 | Q>* | No |
ClinGen gnomAD |
|
|
CA5530978 rs780893937 |
762 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA5530980 rs755739149 |
762 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752303319 CA5530979 |
762 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 762 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777182796 CA5530981 |
763 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA376913220 rs1258506421 |
763 | N>K | No |
ClinGen gnomAD |
|
|
rs1238798999 CA376913218 |
763 | N>S | No |
ClinGen gnomAD |
|
|
rs1357835527 CA376913226 |
764 | K>R | No |
ClinGen gnomAD |
|
|
rs770547166 CA5530983 |
765 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530982 rs748872859 |
765 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212193270 CA376913230 |
765 | E>K | No |
ClinGen gnomAD |
|
|
CA376913237 rs1192078085 |
766 | K>E | No |
ClinGen gnomAD |
|
|
CA209218973 rs917469777 |
768 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs779624306 CA5530986 |
769 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530987 rs746373029 |
772 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1364994097 CA376913282 |
773 | P>A | No |
ClinGen TOPMed |
|
|
CA5530989 rs201381298 |
775 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303984857 CA376913297 |
775 | G>R | No |
ClinGen TOPMed |
|
|
CA5530991 rs768961407 |
776 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5530993 rs761937475 |
778 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530995 rs765296959 |
778 | R>S | No |
ClinGen ExAC |
|
|
rs751498224 CA5530996 |
779 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1334694412 CA376913333 |
781 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 781 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767234589 CA5530999 |
784 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767234589 CA5530998 |
784 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5530997 rs759406971 |
784 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs140770987 CA5531000 |
785 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5531002 rs753530937 |
786 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5531004 rs778499051 |
787 | D>Y | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8IYB8
5 regional properties for Q8IYB8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, PHD-type | 361 - 406 | IPR001965 |
| conserved_site | Zinc finger, PHD-type, conserved site | 362 - 405 | IPR019786 |
| domain | Zinc finger, PHD-finger | 359 - 408 | IPR019787 |
| domain | Inhibitor of growth protein, N-terminal histone-binding | 3 - 104 | IPR024610 |
| domain | ING3, PHD domain | 361 - 405 | IPR042020 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.13 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial degradosome | A mitochondrial protein complex with 3' to 5' exoribonuclease activity that participates in intron-independent turnover and processing of mitochondrial transcripts. In humans, the mitochondrial degradosome is a pentameric complex, and in yeast it exists as a heterodimer. |
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrial nucleoid | The region of a mitochondrion to which the DNA is confined. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| 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. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3'-5' RNA helicase activity | Unwinding of an RNA helix in the 3' to 5' direction, driven by ATP hydrolysis. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA helicase activity | Unwinding of a DNA helix, driven by ATP hydrolysis. |
| double-stranded RNA binding | Binding to double-stranded RNA. |
| helicase activity | Catalysis of the reaction: ATP + H2O = ADP + phosphate, to drive the unwinding of a DNA or RNA helix. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| DNA duplex unwinding | The process in which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating a region of unpaired single strands. |
| DNA recombination | Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. |
| mitochondrial mRNA catabolic process | The chemical reactions and pathways resulting in the breakdown of mRNA transcribed from the mitochondrial genome and occurring in the mitochondrion. |
| mitochondrial mRNA surveillance | The set of processes involved in identifying and degrading messenger RNA (mRNA) within the mitochondrion. |
| mitochondrial ncRNA surveillance | The set of processes involved in identifying and degrading defective or aberrant non-coding RNA transcripts (ncRNAs) within the mitochondrion. |
| mitochondrial RNA 3'-end processing | Any process involved in forming the mature 3' end of an RNA molecule transcribed from a mitochondrial genome; occurs in the mitochondrion. |
| mitochondrial RNA surveillance | The set of processes involved in identifying and degrading defective or aberrant RNAs that takes place in the mitochondrion. |
| mitochondrion morphogenesis | The process in which the anatomical structures of a mitochondrion are generated and organized. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of cell growth | Any process that activates or increases the frequency, rate, extent or direction of cell growth. |
| positive regulation of mitochondrial RNA catabolic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving catabolism in the mitochondrion of RNA transcribed from the mitochondrial genome. |
| RNA catabolic process | The chemical reactions and pathways resulting in the breakdown of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9VN03 | Suv3 | ATP-dependent RNA helicase SUV3 homolog, mitochondrial | Drosophila melanogaster (Fruit fly) | PR |
| Q15477 | SKIV2L | Helicase SKI2W | Homo sapiens (Human) | PR |
| Q80YD1 | Supv3l1 | ATP-dependent RNA helicase SUPV3L1, mitochondrial | Mus musculus (Mouse) | PR |
| Q5EBA1 | Supv3l1 | ATP-dependent RNA helicase SUPV3L1, mitochondrial | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSFSRALLWA | RLPAGRQAGH | RAAICSALRP | HFGPFPGVLG | QVSVLATASS | SASGGSKIPN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TSLFVPLTVK | PQGPSADGDV | GAELTRPLDK | NEVKKVLDKF | YKRKEIQKLG | ADYGLDARLF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HQAFISFRNY | IMQSHSLDVD | IHIVLNDICF | GAAHADDLFP | FFLRHAKQIF | PVLDCKDDLR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KISDLRIPPN | WYPDARAMQR | KIIFHSGPTN | SGKTYHAIQK | YFSAKSGVYC | GPLKLLAHEI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FEKSNAAGVP | CDLVTGEERV | TVQPNGKQAS | HVSCTVEMCS | VTTPYEVAVI | DEIQMIRDPA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RGWAWTRALL | GLCAEEVHLC | GEPAAIDLVM | ELMYTTGEEV | EVRDYKRLTP | ISVLDHALES |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LDNLRPGDCI | VCFSKNDIYS | VSRQIEIRGL | ESAVIYGSLP | PGTKLAQAKK | FNDPNDPCKI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LVATDAIGMG | LNLSIRRIIF | YSLIKPSINE | KGERELEPIT | TSQALQIAGR | AGRFSSRFKE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GEVTTMNHED | LSLLKEILKR | PVDPIRAAGL | HPTAEQIEMF | AYHLPDATLS | NLIDIFVDFS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QVDGQYFVCN | MDDFKFSAEL | IQHIPLSLRV | RYVFCTAPIN | KKQPFVCSSL | LQFARQYSRN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EPLTFAWLRR | YIKWPLLPPK | NIKDLMDLEA | VHDVLDLYLW | LSYRFMDMFP | DASLIRDLQK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ELDGIIQDGV | HNITKLIKMS | ETHKLLNLEG | FPSGSQSRLS | GTLKSQARRT | RGTKALGSKA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TEPPSPDAGE | LSLASRLVQQ | GLLTPDMLKQ | LEKEWMTQQT | EHNKEKTESG | THPKGTRRKK |
| KEPDSD |