Q9BRS2
PR
Gene name |
RIOK1 |
Protein name |
Serine/threonine-protein kinase RIO1 |
Names |
RIO kinase 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83732 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
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
11 structures for Q9BRS2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4OTP | X-ray | 270 A | A | 143-494 | PDB |
| 6G5I | EM | 350 A | z | 1-568 | PDB |
| 6V0N | X-ray | 211 A | C | 11-23 | PDB |
| 6ZV6 | EM | 290 A | h | 1-568 | PDB |
| 6ZXD | EM | 320 A | z | 1-568 | PDB |
| 6ZXE | EM | 300 A | z | 1-568 | PDB |
| 6ZXF | EM | 370 A | z | 1-568 | PDB |
| 6ZXG | EM | 260 A | z | 1-568 | PDB |
| 6ZXH | EM | 270 A | z | 1-568 | PDB |
| 7BOC | X-ray | 255 A | B | 9-23 | PDB |
| AF-Q9BRS2-F1 | Predicted | AlphaFoldDB |
463 variants for Q9BRS2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1444604386 CA362666083 |
2 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs548389817 CA362666094 |
3 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548389817 CA3627499 |
3 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362666098 rs1241877337 |
4 | R>G | No |
ClinGen gnomAD |
|
|
rs373706985 CA3627500 |
5 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751852871 CA362666114 |
7 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs751852871 CA3627501 |
7 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3627503 rs781521896 |
8 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376735534 CA3627502 |
8 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1399490091 CA362666129 |
9 | S>T | No |
ClinGen gnomAD |
|
|
rs1334823631 CA362666137 |
10 | R>L | No |
ClinGen gnomAD |
|
|
rs1416082863 CA362666134 |
10 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs991741409 CA133954437 |
11 | V>E | No |
ClinGen gnomAD |
|
|
CA362666140 rs991741409 |
11 | V>G | No |
ClinGen gnomAD |
|
|
CA133954432 rs963054043 |
11 | V>M | No |
ClinGen Ensembl |
|
|
CA133954441 rs990580022 |
12 | V>F | No |
ClinGen TOPMed |
|
|
rs1299566786 CA362666149 |
13 | P>S | No |
ClinGen gnomAD |
|
|
rs752842757 CA362666153 |
14 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3627504 rs752842757 |
14 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1254308516 CA362666158 |
15 | Q>K | No |
ClinGen gnomAD |
|
|
rs1347287502 CA362666161 |
15 | Q>R | No |
ClinGen gnomAD |
|
|
rs1201524340 CA362666177 |
17 | D>A | No |
ClinGen gnomAD |
|
|
rs1372701965 CA362666181 |
17 | D>E | No |
ClinGen TOPMed |
|
|
CA362666175 rs1230723390 |
17 | D>H | No |
ClinGen Ensembl |
|
|
CA362666174 rs1230723390 |
17 | D>N | No |
ClinGen Ensembl |
|
|
rs777927378 CA3627506 |
20 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA362666196 rs1464756313 |
20 | D>N | No |
ClinGen gnomAD |
|
|
COSM1660198 rs1210919327 CA362666214 |
22 | S>F | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA362666259 rs1460664832 |
27 | R>G | No |
ClinGen gnomAD |
|
|
CA362666262 rs1314345649 |
27 | R>T | No |
ClinGen TOPMed |
|
| rs1412429262 | 28 | D>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756323802 CA3627522 |
29 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs764062517 CA3627523 |
31 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1027151158 CA133962086 |
34 | E>K | No |
ClinGen TOPMed |
|
|
CA3627524 rs753858364 |
36 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362666325 rs1230765261 |
36 | D>Y | No |
ClinGen gnomAD |
|
|
CA362666374 rs895470975 |
43 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs895470975 CA133962099 |
43 | L>I | No |
ClinGen TOPMed |
|
|
CA3627525 rs757172873 |
43 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA133962106 rs1009941920 |
44 | Q>E | No |
ClinGen Ensembl |
|
|
rs1207636722 CA362666381 |
44 | Q>L | No |
ClinGen gnomAD |
|
|
CA3627526 rs778862073 |
45 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362666400 rs1250405338 |
47 | V>M | No |
ClinGen gnomAD |
|
|
CA3627527 rs745665345 |
49 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1257372994 CA362666434 |
51 | G>V | No |
ClinGen gnomAD |
|
|
rs779746706 CA3627529 |
55 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3627530 rs746649773 |
57 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1251079981 CA362666484 |
58 | E>D | No |
ClinGen TOPMed |
|
|
CA362666487 rs1195160532 |
59 | E>Q | No |
ClinGen TOPMed |
|
|
rs747650782 CA3627534 |
62 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs775973273 CA3627533 |
62 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA3627536 rs771361627 |
63 | Y>H | No |
ClinGen ExAC |
|
|
rs1451271649 CA362666526 |
64 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA362666534 rs1355333891 |
65 | D>E | No |
ClinGen gnomAD |
|
|
CA3627540 rs375095348 |
65 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1394840623 CA362666545 |
67 | D>H | No |
ClinGen gnomAD |
|
|
rs1308256279 CA362666549 |
67 | D>V | No |
ClinGen TOPMed |
|
|
CA3627541 rs767983986 |
68 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133962174 rs1000001721 |
68 | D>N | No |
ClinGen TOPMed |
|
|
rs1424245905 CA362666561 |
69 | D>G | No |
ClinGen gnomAD |
|
| rs764932797 | 69 | D>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145488999 CA3627543 |
69 | D>N | No |
ClinGen ESP ExAC TOPMed |
|
|
CA362666571 rs1581709769 |
70 | W>* | No |
ClinGen Ensembl |
|
|
CA362666589 rs1273380566 |
72 | W>C | No |
ClinGen gnomAD |
|
|
CA362666583 rs1245059057 |
72 | W>R | No |
ClinGen gnomAD |
|
|
rs1339649253 CA362666610 |
75 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA362666633 rs114626881 |
79 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3627546 rs114626881 |
79 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114626881 CA3627545 |
79 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA133962202 rs962014021 |
80 | A>G | No |
ClinGen TOPMed |
|
|
CA362666638 rs765093225 |
80 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3627547 rs765093225 |
80 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133962225 rs972474783 |
81 | K>N | No |
ClinGen gnomAD |
|
|
CA133962243 rs1027870426 |
82 | G>C | No |
ClinGen gnomAD |
|
|
CA3627548 rs750354089 |
82 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3627550 rs779801895 |
83 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3627551 rs746704762 |
85 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1271006420 CA362666666 |
85 | W>R | No |
ClinGen TOPMed |
|
|
rs141279475 CA3627552 |
87 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 92 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3627554 rs770079960 |
92 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs371718113 CA3627578 |
95 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA133963149 rs866875419 |
95 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1302593589 CA362666763 |
97 | T>N | No |
ClinGen TOPMed |
|
|
COSM1445795 CA133963164 rs769061872 |
99 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3627579 rs769061872 |
99 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776773785 CA3627580 |
100 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3627581 rs553166454 |
101 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362666784 rs553166454 |
101 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1294747321 CA362666798 |
103 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 103 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362666813 rs1424298915 |
105 | M>T | No |
ClinGen TOPMed |
|
|
rs114381343 CA3627582 |
105 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3627583 rs773311605 |
107 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA133963174 rs200484094 |
111 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs200484094 CA362666849 |
111 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1228728066 CA362666854 |
111 | K>N | No |
ClinGen gnomAD |
|
|
CA3627584 rs200484094 |
111 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3627585 rs766312760 |
113 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA3627587 rs55698032 |
114 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3627586 rs375314972 |
114 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1482809201 CA362666892 |
117 | E>D | No |
ClinGen gnomAD |
|
|
rs1180117970 CA362666898 |
118 | N>S | No |
ClinGen gnomAD |
|
|
CA362666905 rs1254524112 |
119 | K>T | No |
ClinGen gnomAD |
|
|
rs887119596 CA133963227 |
122 | L>F | No |
ClinGen TOPMed |
|
|
CA3627588 rs142247752 |
122 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369600325 CA3627589 |
123 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1410453442 CA362666966 |
126 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 127 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3627603 rs143168973 |
128 | T>S | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 129 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362666994 rs1333505461 |
130 | S>Y | No |
ClinGen gnomAD |
|
|
CA3627605 rs369058107 |
131 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362666995 rs369058107 |
131 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775382141 CA3627606 |
133 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 137 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763843491 CA3627608 |
137 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753537215 CA3627609 |
137 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs372976405 CA3627611 |
141 | Q>* | No |
ClinGen ESP ExAC |
|
|
rs376585630 CA3627612 |
141 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1444655102 CA362667073 |
142 | K>N | No |
ClinGen gnomAD |
|
|
CA133964207 rs745740116 |
143 | E>A | No |
ClinGen Ensembl |
|
| TCGA novel | 145 | D>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362667088 rs755827526 |
145 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA133964212 rs755827526 |
145 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs755827526 CA362667089 |
145 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 147 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3627633 rs764939182 |
148 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539584287 CA3627635 |
148 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs539584287 CA3627634 |
148 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3627638 rs753139384 COSM1312377 |
149 | I>M | Variant assessed as Somatic; 9.243e-05 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1385892555 CA362667131 |
149 | I>S | No |
ClinGen gnomAD |
|
|
CA362667130 rs1385892555 |
149 | I>T | No |
ClinGen gnomAD |
|
|
rs988072923 CA133965876 |
149 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA362667144 rs1321645128 |
151 | D>G | No |
ClinGen gnomAD |
|
|
rs767861874 CA3627640 |
159 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA362667197 rs1280327940 |
159 | E>Q | No |
ClinGen TOPMed |
|
|
rs1219522100 CA362667203 |
160 | Q>E | No |
ClinGen TOPMed |
|
|
rs1412273865 CA362667222 |
161 | V>L | No |
ClinGen gnomAD |
|
|
rs1367581125 CA362667248 |
164 | P>L | No |
ClinGen TOPMed |
|
|
CA362667251 rs1303635771 |
165 | R>K | No |
ClinGen TOPMed |
|
|
rs765791938 CA3627655 |
166 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA3627656 rs765791938 |
166 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1243069723 CA362667303 |
172 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1045474479 CA133967228 |
172 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3627657 rs761203541 |
173 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3627658 rs368449018 |
174 | L>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754214836 CA3627659 |
176 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA362667328 rs1408369000 |
176 | R>I | No |
ClinGen gnomAD |
|
|
CA362667345 rs1273234750 |
179 | I>L | No |
ClinGen gnomAD |
|
|
CA133967261 rs949873342 |
184 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA362667386 rs1197425574 |
185 | C>R | No |
ClinGen gnomAD |
|
|
rs1305854572 CA362667400 |
187 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 189 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 191 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 191 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452815201 CA362667433 |
191 | E>V | No |
ClinGen TOPMed |
|
|
CA3627684 rs765500850 |
193 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA133968488 rs906651035 |
194 | V>A | No |
ClinGen TOPMed |
|
|
rs750700819 CA3627685 |
194 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1472327625 CA362667472 |
195 | Y>* | No |
ClinGen TOPMed |
|
|
CA133968498 rs756968345 |
196 | H>P | No |
ClinGen Ensembl |
|
|
CA133968510 rs1030933027 |
197 | A>T | No |
ClinGen Ensembl |
|
|
CA133968525 rs56362051 |
198 | S>G | No |
ClinGen Ensembl |
|
|
rs758576692 CA3627687 |
198 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758576692 CA362667488 |
198 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561877159 CA362667496 |
199 | T>I | No |
ClinGen Ensembl |
|
|
CA362667519 rs1201529899 |
203 | E>Q | No |
ClinGen TOPMed |
|
|
CA362667526 rs1311561798 |
204 | S>G | No |
ClinGen gnomAD |
|
|
CA133968555 rs372062841 |
204 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA362667530 rs1264780602 |
204 | S>R | No |
ClinGen gnomAD |
|
|
CA3627689 rs148276498 |
205 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362667543 rs1218846944 |
206 | A>V | No |
ClinGen TOPMed |
|
|
rs116541124 CA3627691 |
207 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1187220461 CA362667562 |
209 | I>T | No |
ClinGen gnomAD |
|
|
rs1018566858 CA133968585 |
210 | Y>D | No |
ClinGen TOPMed |
|
|
CA133968588 rs777240199 |
212 | T>N | No |
ClinGen Ensembl |
|
| TCGA novel | 213 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755984671 CA3627693 |
215 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs964551643 CA133968597 |
216 | V>M | No |
ClinGen Ensembl |
|
|
CA362667621 rs1286951750 |
218 | K>R | No |
ClinGen TOPMed |
|
|
CA133968605 rs547473770 |
220 | R>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1179128325 CA362667633 |
220 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA133968608 rs547473770 |
220 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA3627695 rs749063438 |
222 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1157366191 CA362667670 |
225 | S>N | No |
ClinGen gnomAD |
|
|
rs1038793684 CA133968643 |
227 | E>G | No |
ClinGen TOPMed |
|
|
CA133968631 rs1011633279 |
227 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs773927098 CA3627697 |
229 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM172443 CA3627712 rs138314843 |
231 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3627713 rs749041843 |
231 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs375466090 CA362667727 |
232 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3627715 rs375466090 |
232 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745501428 CA3627716 |
234 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133968827 rs796477910 |
235 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs184021828 CA3627717 |
235 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362667747 rs1292538835 |
235 | C>W | No |
ClinGen gnomAD |
|
|
CA133968817 rs796477910 |
235 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3627718 rs200730332 |
239 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1203555062 CA362667788 |
241 | K>N | No |
ClinGen gnomAD |
|
|
CA3627719 rs746475614 |
242 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA362667798 COSM1197128 rs570987208 |
243 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA3627720 rs570987208 |
243 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3627721 rs773697637 |
244 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs187948651 CA133968860 |
245 | T>I | No |
ClinGen 1000Genomes |
|
|
rs1442355955 CA362667820 |
246 | W>* | No |
ClinGen gnomAD |
|
|
rs962698984 CA133968882 |
246 | W>S | No |
ClinGen TOPMed |
|
|
CA362667827 rs1164959622 |
247 | A>G | No |
ClinGen gnomAD |
|
|
CA362667825 rs1338762346 |
247 | A>T | No |
ClinGen TOPMed |
|
|
CA362667828 rs1164959622 |
247 | A>V | No |
ClinGen gnomAD |
|
|
rs1365601357 CA362667833 |
248 | E>V | No |
ClinGen gnomAD |
|
|
rs906389500 CA133968888 |
251 | M>V | No |
ClinGen Ensembl |
|
|
rs1326851891 CA362667863 |
252 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3627724 rs371549319 |
253 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200020707 CA3627748 |
259 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA133969807 rs375830467 |
260 | A>V | No |
ClinGen ESP |
|
|
CA3627750 rs574727883 |
261 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362667939 rs1470864753 |
262 | I>T | No |
ClinGen gnomAD |
|
|
CA3627751 rs760725654 |
262 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3627752 rs764215831 |
263 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362667943 rs764215831 |
263 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753764241 CA3627753 |
264 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA362667954 rs1248332385 |
265 | P>T | No |
ClinGen TOPMed |
|
|
CA362667964 rs1380701115 |
266 | E>V | No |
ClinGen gnomAD |
|
|
rs1207521197 CA362667995 |
271 | R>G | No |
ClinGen TOPMed |
|
|
rs761773593 CA3627754 |
271 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA362668021 rs1327033986 |
274 | V>A | No |
ClinGen gnomAD |
|
|
rs765113303 CA3627755 |
275 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758119800 CA3627757 |
280 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs754495459 CA3627760 |
281 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs751208156 CA3627759 |
281 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285749924 CA362668071 |
282 | K>E | No |
ClinGen gnomAD |
|
|
CA362668079 rs1447139701 |
283 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs368885780 CA3627762 |
285 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1413431350 CA362668112 |
286 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 288 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA133970149 rs371483871 |
289 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1581717520 CA362668155 |
292 | N>S | No |
ClinGen Ensembl |
|
|
CA3627778 rs373794851 |
293 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA133970172 rs78422630 |
295 | L>* | No |
ClinGen Ensembl |
|
|
rs74429671 CA133970163 |
295 | L>I | No |
ClinGen Ensembl |
|
|
CA133970189 rs904630529 |
296 | S>P | No |
ClinGen TOPMed |
|
|
rs1387104467 CA362668193 |
298 | S>C | No |
ClinGen gnomAD |
|
|
rs1210696963 CA362668189 |
298 | S>T | No |
ClinGen TOPMed |
|
|
CA3627779 rs754690762 |
299 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1195889836 CA362668206 |
300 | A>G | No |
ClinGen gnomAD |
|
|
rs867318146 CA133970219 |
301 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA362668209 rs1394947737 |
301 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752267936 CA133970233 |
302 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755682677 CA3627782 |
303 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA133970242 rs1029197347 |
303 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362668227 rs1361063598 |
304 | Y>C | No |
ClinGen gnomAD |
|
|
CA362668228 rs1361063598 |
304 | Y>F | No |
ClinGen gnomAD |
|
|
CA3627783 rs779623905 |
304 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1250739824 CA362668254 |
308 | I>S | No |
ClinGen gnomAD |
|
|
CA133970280 rs112832314 |
309 | Q>R | No |
ClinGen Ensembl |
|
|
CA362668271 rs376999534 |
310 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1479599906 CA362668265 |
310 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA362668276 rs1581717660 |
311 | M>I | No |
ClinGen Ensembl |
|
|
rs747289992 CA3627787 |
311 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780502977 CA3627786 |
311 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3627788 rs78123723 |
314 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362668298 rs1181905143 |
314 | M>K | No |
ClinGen gnomAD |
|
|
CA362668305 rs1445374974 |
315 | Y>C | No |
ClinGen gnomAD |
|
|
CA362668306 rs1445374974 |
315 | Y>F | No |
ClinGen gnomAD |
|
|
CA362668314 rs1371888238 |
316 | Q>L | No |
ClinGen gnomAD |
|
|
CA362668321 rs921125787 |
317 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1463941688 CA362668317 |
317 | D>N | No |
ClinGen gnomAD |
|
|
rs921125787 CA133970330 |
317 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3627790 rs748291152 |
318 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1386285886 CA362668329 |
319 | R>G | No |
ClinGen TOPMed |
|
|
CA362668334 rs1158519693 |
319 | R>S | No |
ClinGen TOPMed |
|
|
CA3627791 rs769846711 |
320 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA362668344 rs1199782635 COSM3662709 |
321 | V>A | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3627793 rs762844526 |
321 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294187870 CA362668358 |
323 | A>G | No |
ClinGen gnomAD |
|
|
rs774215846 CA3627795 |
325 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs759192982 CA3627796 |
326 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA3627797 rs767268557 |
329 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA362668415 rs1245249509 |
331 | L>P | No |
ClinGen gnomAD |
|
|
CA3627816 rs149776174 |
333 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3627815 rs771743952 |
333 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA362668447 rs1273359931 |
334 | G>A | No |
ClinGen gnomAD |
|
|
rs113741715 CA3627818 |
334 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761165651 CA3627820 |
337 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345991312 CA362668469 |
338 | Y>C | No |
ClinGen gnomAD |
|
|
CA362668477 rs1294366435 |
339 | I>S | No |
ClinGen TOPMed |
|
|
CA133970811 rs564662640 |
339 | I>V | No |
ClinGen Ensembl |
|
|
rs1222985510 CA362668484 |
340 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA362668497 rs1443432888 |
342 | V>A | No |
ClinGen TOPMed |
|
|
rs751992793 CA3627822 |
342 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3627824 rs759639997 |
343 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1490007343 CA362668505 |
344 | Q>* | No |
ClinGen gnomAD |
|
|
rs756349877 CA3627826 |
346 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777914207 CA3627827 |
347 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA362668528 rs1480543519 |
347 | E>V | No |
ClinGen gnomAD |
|
|
CA133970869 rs1027354522 |
348 | H>R | No |
ClinGen TOPMed |
|
|
CA3627829 rs368813373 |
349 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1267607901 CA362668546 |
350 | H>Y | No |
ClinGen gnomAD |
|
|
rs541292921 CA133970901 |
352 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA3627830 rs541292921 |
352 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA362668560 rs1158743627 |
352 | H>Y | No |
ClinGen gnomAD |
|
|
rs1304945073 CA362668564 |
353 | A>T | No |
ClinGen gnomAD |
|
|
rs1263015419 CA362668590 |
356 | F>C | No |
ClinGen gnomAD |
|
|
CA3627834 rs148586888 |
356 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3627838 rs34455054 |
362 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3627839 rs372827738 |
363 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs946690175 CA133970977 |
364 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3627841 rs767961210 |
365 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA3627842 rs767961210 |
365 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA362668649 rs151101127 |
365 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3627843 rs151101127 |
365 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3627844 rs778035399 |
366 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs141215695 CA3627865 |
369 | M>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 370 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1321353391 CA362668711 |
372 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 374 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs56067778 VAR_061777 CA3627868 |
375 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs56067778 CA362668731 |
375 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3627869 rs369130351 |
376 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs35282481 CA3627870 |
378 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 379 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202099009 CA3627873 COSM1445796 |
379 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1223813 CA3627872 rs147593852 |
379 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs200129596 CA3627876 |
384 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373917793 CA3627877 |
385 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1417935754 CA362668804 |
386 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 387 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362668814 rs747925987 |
388 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3627878 rs747925987 |
388 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 389 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3949464 CA3627879 rs769344109 |
390 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1272482578 CA362668831 |
391 | T>A | No |
ClinGen gnomAD |
|
|
rs1341650132 CA362668834 |
391 | T>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 393 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362668860 rs1561878585 |
395 | M>V | No |
ClinGen Ensembl |
|
|
CA362668882 rs1320987987 |
397 | A>V | No |
ClinGen gnomAD |
|
|
CA362668904 rs1445977617 |
401 | K>E | No |
ClinGen gnomAD |
|
|
rs778419440 CA3627903 |
402 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs376101720 CA3627904 |
404 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1244581171 CA362668945 |
405 | I>V | No |
ClinGen gnomAD |
|
|
CA3627906 rs777194050 |
409 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA3627908 rs541475091 |
410 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3627909 rs773604626 |
411 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751700321 CA3627912 |
414 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3627911 rs150089857 |
414 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1161712957 CA362669023 |
417 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA362669041 rs1387666957 |
419 | H>P | No |
ClinGen gnomAD |
|
|
rs865994463 CA133975784 |
421 | D>G | No |
ClinGen gnomAD |
|
|
CA362669056 rs865994463 |
421 | D>V | No |
ClinGen gnomAD |
|
|
rs759592037 CA3627914 |
423 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs767612123 CA3627938 |
427 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3627939 rs758413767 |
427 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 429 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561881184 CA362669147 |
433 | T>I | No |
ClinGen Ensembl |
|
|
CA3627940 rs760684950 |
434 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs138618030 CA133976530 |
435 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs779828011 CA133976539 |
436 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 439 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746841853 CA3627941 |
440 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3627942 rs746841853 |
440 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257979850 CA362669192 |
440 | Y>H | No |
ClinGen gnomAD |
|
|
rs757044473 CA3627943 |
441 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA133976560 rs960654839 |
442 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 443 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362669227 rs1348760863 |
445 | D>N | No |
ClinGen TOPMed |
|
|
rs778597624 CA3627944 |
446 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133976563 rs913198739 |
446 | I>V | No |
ClinGen TOPMed |
|
|
CA3627945 rs750071095 |
447 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs757891493 CA3627946 |
448 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs779642529 CA3627947 |
450 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3627948 rs148914977 |
451 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3627949 rs756654279 |
453 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3627950 rs756654279 |
453 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362669293 rs1412280057 |
454 | D>V | No |
ClinGen TOPMed |
|
|
rs1360519379 CA362669291 |
454 | D>Y | No |
ClinGen gnomAD |
|
|
rs926138078 CA133976633 |
455 | M>I | No |
ClinGen TOPMed |
|
|
rs879242718 CA133976631 |
455 | M>L | No |
ClinGen Ensembl |
|
|
CA3627951 rs749735149 |
455 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 456 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1287743397 CA362669310 |
457 | M>V | No |
ClinGen gnomAD |
|
|
CA362669339 rs1401701217 |
460 | Q>H | No |
ClinGen gnomAD |
|
|
CA362669337 rs1382722920 |
460 | Q>P | No |
ClinGen gnomAD |
|
|
rs771407609 CA3627952 |
461 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs772345295 CA3627980 |
467 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs775572875 CA3627981 COSM3745350 |
468 | T>A | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1461131746 CA362669410 |
469 | V>A | No |
ClinGen TOPMed |
|
|
rs143545368 CA133977985 |
469 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs753994132 CA133977996 |
470 | T>I | No |
ClinGen Ensembl |
|
|
CA133977999 rs948073599 |
471 | G>* | No |
ClinGen TOPMed |
|
|
CA133977998 rs948073599 |
471 | G>R | No |
ClinGen TOPMed |
|
|
rs768703385 CA3627983 |
472 | L>S | No |
ClinGen ExAC gnomAD |
|
|
COSM3745351 CA3627984 rs776593421 |
474 | K>E | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA362669455 rs1179629407 |
476 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 482 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3628002 rs781276607 |
484 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1581724708 CA362669523 |
485 | L>R | No |
ClinGen Ensembl |
|
|
rs773015943 CA3628005 |
487 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967475573 CA133979046 |
491 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs762861813 CA3628006 |
492 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3628007 rs770609254 |
494 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774091177 CA362669587 |
495 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774091177 CA3628008 |
495 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3628009 rs759292920 |
498 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs977393134 CA133979085 |
499 | E>K | No |
ClinGen gnomAD |
|
|
CA362669630 rs1285982863 |
501 | I>T | No |
ClinGen TOPMed |
|
|
rs1440246750 CA362669649 |
504 | S>Y | No |
ClinGen gnomAD |
|
|
rs752260111 CA3628011 |
505 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760258404 CA3628012 |
506 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA133979101 rs369847797 |
507 | S>F | No |
ClinGen ESP |
|
| TCGA novel | 509 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750875200 CA3628015 |
510 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs780316658 CA3628017 |
513 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs142585130 CA3628018 |
515 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA362669729 rs1581724780 |
516 | D>A | No |
ClinGen Ensembl |
|
|
CA3628020 rs116455594 |
517 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3628019 rs376812522 |
517 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs562711678 CA133979147 |
518 | A>V | No |
ClinGen Ensembl |
|
|
rs56090491 CA3628021 |
519 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3628022 rs56160149 |
519 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777812778 CA3628023 |
521 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3628024 rs749148799 |
521 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1341589646 CA362669775 |
523 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs369774364 CA3628025 |
525 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3628028 rs771918627 |
527 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362669797 rs771918627 |
527 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775270644 CA3628029 |
528 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3628031 rs530357242 |
529 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372646900 CA3628030 |
529 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362669815 rs1488520312 |
530 | D>G | No |
ClinGen gnomAD |
|
|
CA3628032 rs753346174 |
530 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA362669821 rs1395055644 |
531 | K>E | No |
ClinGen Ensembl |
|
|
CA3628034 rs766847444 |
531 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3628054 rs528569279 |
533 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 533 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3628055 rs753021776 |
534 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3628056 rs141390550 |
537 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA133981643 rs946262868 |
538 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA362669909 rs1203465576 |
541 | A>V | No |
ClinGen TOPMed |
|
|
CA133981655 rs867191437 |
542 | Q>K | No |
ClinGen Ensembl |
|
|
rs530323597 CA133981657 |
547 | K>I | No |
ClinGen Ensembl |
|
|
CA362669958 rs1243886186 |
548 | N>S | No |
ClinGen gnomAD |
|
|
CA362669964 rs1215510704 |
549 | K>E | No |
ClinGen gnomAD |
|
|
rs1263604919 CA362669967 |
549 | K>R | No |
ClinGen gnomAD |
|
|
CA3628058 rs547082776 |
551 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs865953300 CA133981660 |
551 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3628059 rs139406244 |
552 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362669993 rs1456573366 |
553 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 554 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362670053 rs1295933426 |
561 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1167659262 CA362670059 |
562 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1167659262 CA362670060 |
562 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA362670067 rs1332797962 |
563 | K>N | No |
ClinGen gnomAD |
|
|
rs1463680403 CA362670061 |
563 | K>Q | No |
ClinGen gnomAD |
|
|
rs114957379 CA3628064 |
564 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114957379 CA133981704 |
564 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362670078 rs768193659 |
565 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3628066 rs746757404 |
565 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186928871 CA362670090 |
567 | G>D | No |
ClinGen TOPMed |
|
|
CA362670088 rs747674048 |
567 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3628069 rs747674048 |
567 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 568 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3628070 rs769275570 |
569 | K>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9BRS2
7 regional properties for Q9BRS2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | HAT (Half-A-TPR) repeat | 327 - 364 | IPR003107-1 |
| repeat | HAT (Half-A-TPR) repeat | 377 - 412 | IPR003107-2 |
| repeat | HAT (Half-A-TPR) repeat | 423 - 456 | IPR003107-3 |
| repeat | HAT (Half-A-TPR) repeat | 565 - 597 | IPR003107-4 |
| repeat | HAT (Half-A-TPR) repeat | 743 - 775 | IPR003107-5 |
| repeat | HAT (Half-A-TPR) repeat | 777 - 811 | IPR003107-6 |
| domain | Suppressor of forked | 694 - 1023 | IPR008847 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 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. |
| methyltransferase complex | A protein complex that possesses methyltransferase activity. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| preribosome, small subunit precursor | A preribosomal complex consisting of 20S pre-rRNA, ribosomal proteins including late-associating small subunit proteins, and associated proteins; a precursor of the eukaryotic cytoplasmic small ribosomal subunit. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| hydrolase activity | Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. |
| metal ion binding | Binding to a metal ion. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| maturation of SSU-rRNA | Any process involved in the maturation of a precursor Small SubUnit (SSU) ribosomal RNA (rRNA) molecule into a mature SSU-rRNA molecule. |
| phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
| positive regulation of rRNA processing | Any process that activates or increases the frequency, rate or extent of rRNA processing. |
| ribosomal small subunit biogenesis | A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a small ribosomal subunit; includes transport to the sites of protein synthesis. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O14730 | RIOK3 | Serine/threonine-protein kinase RIO3 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDYRRLLMSR | VVPGQFDDAD | SSDSENRDLK | TVKEKDDILF | EDLQDNVNEN | GEGEIEDEEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EGYDDDDDDW | DWDEGVGKLA | KGYVWNGGSN | PQANRQTSDS | SSAKMSTPAD | KVLRKFENKI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NLDKLNVTDS | VINKVTEKSR | QKEADMYRIK | DKADRATVEQ | VLDPRTRMIL | FKMLTRGIIT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EINGCISTGK | EANVYHASTA | NGESRAIKIY | KTSILVFKDR | DKYVSGEFRF | RHGYCKGNPR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KMVKTWAEKE | MRNLIRLNTA | EIPCPEPIML | RSHVLVMSFI | GKDDMPAPLL | KNVQLSESKA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RELYLQVIQY | MRRMYQDARL | VHADLSEFNM | LYHGGGVYII | DVSQSVEHDH | PHALEFLRKD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CANVNDFFMR | HSVAVMTVRE | LFEFVTDPSI | THENMDAYLS | KAMEIASQRT | KEERSSQDHV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DEEVFKRAYI | PRTLNEVKNY | ERDMDIIMKL | KEEDMAMNAQ | QDNILYQTVT | GLKKDLSGVQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KVPALLENQV | EERTCSDSED | IGSSECSDTD | SEEQGDHARP | KKHTTDPDID | KKERKKMVKE |
| 550 | 560 | ||||
| AQREKRKNKI | PKHVKKRKEK | TAKTKKGK |