O15213
PR
Gene name |
WDR46 (BING4, C6orf11, FP221) |
Protein name |
WD repeat-containing protein 46 |
Names |
WD repeat-containing protein BING4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9277 |
EC number |
|
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 O15213
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7MQ8 | EM | 360 A | LW | 1-610 | PDB |
| 7MQ9 | EM | 387 A | LW | 1-610 | PDB |
| 7MQA | EM | 270 A | LW | 1-610 | PDB |
| AF-O15213-F1 | Predicted | AlphaFoldDB |
529 variants for O15213
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3754765 rs773066068 |
2 | E>G | No |
ExAC gnomAD ClinGen |
|
|
CA3754766 rs759625328 |
2 | E>Q | No |
ExAC gnomAD ClinGen |
|
|
CA363670581 rs1468446013 |
3 | T>I | No |
gnomAD ClinGen |
|
|
rs1248273395 CA363670572 |
4 | A>D | No |
gnomAD ClinGen |
|
|
rs925874028 CA137078285 |
5 | P>L | No |
Ensembl ClinGen |
|
| TCGA novel | 5 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363670554 rs1226339602 |
6 | K>* | No |
TOPMed ClinGen |
|
|
CA363670530 rs1278924753 |
7 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 7 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs977252272 CA137078271 |
8 | G>R | No |
TOPMed ClinGen |
|
|
rs575506040 CA3754762 |
11 | V>F | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3754761 rs768377311 |
11 | V>G | No |
ExAC gnomAD ClinGen |
|
|
CA363670452 rs1316968870 |
13 | P>L | No |
gnomAD ClinGen |
|
|
rs1369229538 CA363670439 |
15 | K>E | No |
gnomAD ClinGen |
|
|
CA363670411 rs1318847733 |
18 | L>R | No |
gnomAD ClinGen |
|
|
CA3754759 rs775067332 |
19 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
| TCGA novel | 19 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363670409 rs775067332 |
19 | Q>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3754757 rs745378820 |
20 | T>I | No |
ExAC gnomAD ClinGen |
|
|
rs769375504 CA3754758 |
20 | T>P | No |
ExAC gnomAD ClinGen |
|
|
rs371709260 CA363670393 |
21 | K>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1455457494 CA363670398 |
21 | K>Q | No |
ClinGen gnomAD |
|
|
rs1345831473 CA363670395 |
21 | K>R | No |
gnomAD ClinGen |
|
|
rs368603141 CA137078072 |
24 | K>R | No |
Ensembl ClinGen |
|
|
CA363670352 rs1320922783 |
25 | P>L | No |
gnomAD ClinGen |
|
|
rs748492034 CA3754731 |
26 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA363670338 rs1229999301 |
28 | Y>S | No |
gnomAD ClinGen |
|
|
rs1308602391 CA363670309 |
32 | E>K | No |
gnomAD ClinGen |
|
|
rs779055544 CA3754730 |
33 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755172554 CA137078054 |
33 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3754729 rs755172554 |
33 | T>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA137078052 rs145504997 |
35 | P>R | No |
ESP ClinGen |
|
|
rs1337681298 CA363670282 |
36 | T>I | No |
gnomAD ClinGen |
|
|
CA3754727 rs780103843 |
38 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1462303403 CA363670271 |
38 | A>V | No |
gnomAD ClinGen |
|
|
CA363670268 rs1168208949 |
39 | G>* | No |
gnomAD ClinGen |
|
|
CA3754725 rs751459836 |
40 | A>V | No |
ExAC ClinGen |
|
|
rs762771407 CA3754723 |
42 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA3754724 rs201393892 |
42 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363670244 rs1459711356 |
43 | G>V | No |
gnomAD ClinGen |
|
|
CA137078017 rs769937545 |
44 | P>R | No |
Ensembl ClinGen |
|
|
CA3754721 rs765161485 |
45 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA363670236 rs1197994102 |
45 | P>S | No |
gnomAD ClinGen |
|
| TCGA novel | 45 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759255879 CA3754720 |
46 | R>C | No |
ExAC gnomAD ClinGen |
|
|
rs566892586 CA3754719 |
46 | R>H | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs566892586 CA363670231 |
46 | R>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs539972591 CA3754717 |
51 | R>G | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs773728227 CA3754716 |
51 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
rs539972591 CA363670197 |
51 | R>W | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3754715 rs772476741 |
54 | R>S | No |
ExAC gnomAD ClinGen |
|
|
CA3754714 rs139978819 |
55 | P>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA363670162 rs1391808547 |
57 | R>G | No |
gnomAD ClinGen |
|
|
CA137077990 rs1004404194 |
59 | K>E | No |
Ensembl ClinGen |
|
|
CA363670142 rs1395467919 |
60 | N>H | No |
gnomAD ClinGen |
|
|
rs779219416 CA3754713 |
60 | N>S | No |
ExAC gnomAD ClinGen |
|
|
rs1426500154 CA363670125 |
62 | Y>C | No |
gnomAD ClinGen |
|
|
rs370125300 CA3754712 |
63 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA137077985 rs550722772 |
63 | I>V | No |
1000Genomes ClinGen |
|
|
CA363670104 rs1162381982 |
64 | L>I | No |
gnomAD ClinGen |
|
|
CA363670091 rs1332161508 |
65 | K>E | No |
TOPMed ClinGen |
|
|
CA3754711 rs749499526 |
65 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed ClinGen NCI-TCGA |
|
rs377057221 CA3754709 |
66 | K>T | No |
ESP ExAC gnomAD ClinGen |
|
|
CA137077967 rs958511798 |
67 | S>C | No |
TOPMed gnomAD ClinGen |
|
|
rs958511798 CA363670058 |
67 | S>F | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 68 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562638905 CA363670054 |
68 | R>W | No |
Ensembl ClinGen |
|
|
rs750504323 CA3754707 |
70 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs535556169 CA137077953 |
70 | S>P | No |
ClinGen Ensembl |
|
|
rs777720459 CA3754706 |
73 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs1250290617 CA363669988 |
73 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
rs547304074 CA3754704 |
75 | V>I | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA3754703 rs373679281 |
79 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA137077930 rs899911121 |
83 | K>N | No |
gnomAD ClinGen |
|
| TCGA novel | 85 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335347426 CA363669825 |
85 | P>R | No |
gnomAD ClinGen |
|
|
rs1304616799 CA363669813 |
86 | E>G | No |
gnomAD ClinGen |
|
|
CA363669798 rs1202509555 |
88 | Q>K | No |
TOPMed ClinGen |
|
|
rs1406471064 CA363669783 |
90 | G>C | No |
gnomAD ClinGen |
|
|
CA3754700 rs765977476 |
93 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
VAR_053433 CA3754678 rs3130257 |
94 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA363669684 rs1244270891 |
94 | T>I | No |
ClinGen gnomAD |
|
|
CA363669699 rs3130257 |
94 | T>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| rs3130257 | 94 | T>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1244270891 | 94 | T>V | No | gnomAD | |
|
CA363669670 rs1384644909 |
95 | Q>R | No |
TOPMed ClinGen |
|
|
CA3754677 rs774774184 |
96 | D>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs764619798 CA3754676 |
97 | P>L | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 98 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363669588 rs1276908802 |
99 | P>R | No |
ClinGen gnomAD |
|
|
CA363669557 rs1324485037 |
101 | P>L | No |
gnomAD ClinGen |
|
|
CA363669554 rs778971651 |
102 | A>P | No |
gnomAD ClinGen |
|
|
CA137077792 rs778971651 |
102 | A>T | No |
gnomAD ClinGen |
|
|
rs1229388736 CA363669535 |
102 | A>V | No |
TOPMed ClinGen |
|
|
rs1226125320 CA363669506 |
104 | V>A | No |
gnomAD ClinGen |
|
| TCGA novel | 104 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363669513 rs1270688012 |
104 | V>L | No |
gnomAD ClinGen |
|
|
CA363669490 rs1362364714 |
105 | P>L | No |
gnomAD ClinGen |
|
|
rs1452946891 CA363669486 |
106 | V>L | No |
ClinGen gnomAD |
|
|
rs746061394 CA3754672 |
107 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs776920543 CA3754671 |
108 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA363669419 rs1168973910 |
109 | V>F | No |
gnomAD ClinGen |
|
|
rs1388430364 CA363669390 |
110 | Q>H | No |
gnomAD ClinGen |
|
|
rs771064524 CA3754670 |
110 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3754669 rs747114507 |
111 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA363669342 rs1282199886 |
112 | F>L | No |
gnomAD ClinGen |
|
|
CA363669328 rs1461947215 |
113 | C>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA3754668 rs778944319 |
114 | R>L | No |
ExAC gnomAD ClinGen |
|
|
CA3754667 rs754942535 |
115 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA363669277 rs1215197321 |
116 | D>N | No |
ClinGen TOPMed |
|
|
CA3754665 rs150167790 |
117 | K>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs150167790 CA3754666 |
117 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363669218 rs1316554551 |
119 | R>* | No |
gnomAD ClinGen |
|
|
rs749988211 CA3754663 |
119 | R>Q | No |
ClinGen ExAC |
|
|
CA363669196 rs1350696884 |
120 | K>R | No |
ClinGen gnomAD |
|
|
rs34704405 CA3754635 |
124 | S>C | No |
ExAC gnomAD ClinGen |
|
|
CA3754634 rs34704405 COSM742350 |
124 | S>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA137077623 rs34704405 VAR_053434 |
124 | S>Y | No |
ExAC gnomAD ClinGen UniProt dbSNP |
|
|
CA137077610 rs557411044 |
125 | K>E | No |
Ensembl ClinGen |
|
|
rs773625139 CA3754632 |
129 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137077590 rs917148648 |
130 | S>N | No |
TOPMed ClinGen |
|
|
rs377145811 CA3754630 |
130 | S>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363668919 rs761958035 |
131 | R>L | No |
ExAC TOPMed ClinGen |
|
|
CA3754629 rs761958035 |
131 | R>Q | No |
ExAC TOPMed ClinGen |
|
|
CA3754628 rs775253271 |
132 | L>V | No |
ExAC gnomAD ClinGen |
|
|
CA137077568 rs200883021 |
133 | E>G | No |
gnomAD ClinGen |
|
| TCGA novel | 135 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317140332 CA363668863 |
135 | A>V | No |
gnomAD ClinGen |
|
|
CA3754627 rs201640731 |
137 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363668840 rs1228224834 |
137 | A>T | No |
gnomAD ClinGen |
|
|
CA3754626 rs745845215 |
138 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3754624 rs755773770 |
140 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA3754622 rs777403573 |
141 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1346076014 CA363668733 |
142 | T>A | No |
gnomAD ClinGen |
|
|
rs757803918 CA3754621 |
142 | T>I | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 144 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455479031 CA363668703 |
144 | I>V | No |
gnomAD ClinGen |
|
|
rs1431202215 CA363668617 |
147 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 148 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3754620 rs747713401 |
148 | R>H | No |
ExAC gnomAD ClinGen |
|
|
CA363668604 rs747713401 |
148 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA137077539 rs201738175 |
151 | L>Q | No |
ESP TOPMed ClinGen |
|
|
rs754461653 CA3754618 |
154 | A>P | No |
ExAC gnomAD ClinGen |
|
|
rs754461653 CA363668511 |
154 | A>S | No |
ExAC gnomAD ClinGen |
|
|
CA3754617 rs754461653 |
154 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 155 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 156 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3754615 rs145113472 |
157 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA137077516 rs145113472 |
157 | P>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363668446 rs1210522747 |
157 | P>T | No |
TOPMed ClinGen |
|
|
rs757472651 CA3754592 |
160 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs1385339680 CA363668316 |
161 | E>K | No |
ClinGen gnomAD |
|
|
CA137077309 rs895752229 |
162 | G>E | No |
Ensembl ClinGen |
|
|
CA363668268 rs1414470244 CA363668270 |
163 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs751799999 CA3754591 |
164 | D>H | No |
ExAC gnomAD ClinGen |
|
|
CA363668240 rs1157141955 |
164 | D>V | No |
TOPMed gnomAD ClinGen |
|
|
CA363668177 rs1399840201 |
167 | D>G | No |
gnomAD ClinGen |
|
|
rs1462448796 CA363668149 |
169 | A>T | No |
gnomAD ClinGen |
|
|
CA363668091 rs763020839 |
172 | C>G | No |
ExAC gnomAD ClinGen |
|
|
rs763020839 CA3754589 |
172 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA363668076 rs1425989619 |
172 | C>W | No |
gnomAD ClinGen |
|
|
CA3754588 rs371925901 |
172 | C>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs766322926 CA3754587 |
174 | A>T | No |
ClinGen ExAC |
|
|
rs368494285 CA137077281 |
176 | I>F | No |
ClinGen ESP ExAC |
|
|
CA3754586 rs368494285 |
176 | I>L | No |
ESP ExAC ClinGen |
|
|
CA137077279 rs937174613 |
176 | I>T | No |
TOPMed gnomAD ClinGen |
|
|
rs772959373 CA3754585 |
177 | V>L | No |
ExAC gnomAD ClinGen |
|
|
rs771827593 CA3754584 |
178 | E>V | No |
ExAC gnomAD ClinGen |
|
|
rs747822210 CA3754583 |
179 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs773887242 CA3754582 |
181 | D>H | No |
ExAC gnomAD ClinGen |
|
|
CA363667883 rs766933049 |
182 | I>M | No |
gnomAD ClinGen |
|
|
CA363667895 rs1274542023 |
182 | I>V | No |
gnomAD ClinGen |
|
|
CA363667874 rs1361647229 |
183 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 183 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363667876 rs1361647229 |
183 | A>V | No |
gnomAD ClinGen |
|
|
CA3754581 rs768146120 |
184 | S>G | No |
ExAC gnomAD ClinGen |
|
|
CA3754580 rs377562603 |
186 | A>T | No |
ESP ExAC gnomAD ClinGen |
|
|
rs780661200 CA363667799 |
187 | K>N | No |
ExAC gnomAD ClinGen |
|
|
rs1226256242 CA363667683 |
188 | H>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1562634000 CA363667619 |
190 | D>E | No |
Ensembl ClinGen |
|
|
rs754568217 CA137077139 |
190 | D>Y | No |
ClinGen gnomAD |
|
|
rs1411724915 CA363667598 |
191 | L>F | No |
gnomAD ClinGen |
|
|
rs746368528 CA3754559 |
194 | R>L | No |
ExAC gnomAD ClinGen |
|
|
rs746368528 CA3754558 |
194 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
rs1481710023 CA363667524 |
194 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
CA137077129 rs781568294 |
196 | F>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3754557 rs781568294 |
196 | F>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1229504888 CA363667404 |
198 | P>S | No |
TOPMed ClinGen |
|
|
CA3754555 rs527353058 |
199 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs983143841 CA137077112 |
199 | Y>C | No |
ClinGen TOPMed |
|
|
CA3754554 rs778246852 |
200 | R>K | No |
ExAC gnomAD ClinGen |
|
|
rs752982844 CA3754552 |
202 | N>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1032331123 CA137077098 |
202 | N>T | No |
TOPMed ClinGen |
|
|
rs778949172 CA3754551 |
203 | Y>* | No |
ExAC gnomAD ClinGen |
|
|
CA363667165 rs1180372137 |
203 | Y>C | No |
TOPMed ClinGen |
|
|
CA137077090 rs11539346 |
204 | S>F | No |
Ensembl ClinGen |
|
|
rs374015260 CA3754550 |
205 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750308051 CA3754549 COSM173014 |
205 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3754548 rs767387484 |
206 | T>N | No |
ExAC gnomAD ClinGen |
|
|
CA363667056 rs1581687711 |
208 | R>G | No |
ClinGen Ensembl |
|
|
rs1320590244 CA363667054 |
208 | R>K | No |
gnomAD ClinGen |
|
|
CA363666946 rs1562632593 |
209 | H>Q | No |
Ensembl ClinGen |
|
| TCGA novel | 210 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3754531 rs772480494 |
211 | A>G | No |
ExAC gnomAD ClinGen |
|
|
CA363666862 rs1581686757 |
214 | G>E | No |
Ensembl ClinGen |
|
|
CA363666873 rs1169379417 |
214 | G>R | No |
gnomAD ClinGen |
|
|
CA3754530 rs748309661 |
215 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM742353 rs779110677 CA3754529 |
215 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA363666846 rs779110677 |
215 | R>P | No |
ExAC gnomAD ClinGen |
|
|
rs755011048 CA3754528 |
216 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA363666833 rs749349456 |
216 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs749349456 CA3754527 |
216 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
TCGA novel rs1581686683 CA363666823 |
217 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
|
CA363666821 rs1562632388 |
217 | G>D | No |
Ensembl ClinGen |
|
|
rs372085209 CA3754524 |
222 | L>F | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs763970178 CA3754523 |
223 | D>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA137076851 rs895783066 |
225 | V>I | No |
Ensembl ClinGen |
|
|
rs765000138 COSM264692 CA3754520 |
227 | K>N | large_intestine [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
CA363666614 rs1228556312 |
228 | K>Q | No |
gnomAD ClinGen |
|
| TCGA novel | 232 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775969472 CA3754518 |
232 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3754517 rs765977917 |
233 | I>M | No |
ExAC gnomAD ClinGen |
|
|
CA3754516 rs761071674 |
234 | N>D | No |
ExAC gnomAD ClinGen |
|
|
rs541982694 CA3754514 |
238 | A>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs774508291 CA3754512 |
240 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs868151926 CA137076816 |
240 | R>W | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 241 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 243 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3754511 rs768844531 |
243 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs767175011 CA137076805 COSM1643027 |
243 | R>W | stomach [Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated |
|
CA137076709 rs932972958 |
244 | F>I | No |
ClinGen Ensembl |
|
|
CA137076703 rs868326590 |
246 | H>R | No |
gnomAD ClinGen |
|
|
rs775797261 CA3754487 |
247 | S>F | No |
ExAC gnomAD ClinGen |
|
|
rs775797261 CA363665361 |
247 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3754486 rs769698609 |
249 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769698609 CA137076693 |
249 | A>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs769698609 CA363665351 |
249 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA137076687 rs1024899209 |
249 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
CA3754485 rs745979493 |
255 | Q>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA137076673 rs959481264 |
255 | Q>L | No |
TOPMed ClinGen |
|
|
CA137076669 rs1034619550 |
257 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
rs781466679 CA363665303 |
257 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3754484 rs781466679 |
257 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363665300 rs1464623391 |
258 | W>R | No |
gnomAD ClinGen |
|
|
CA3754483 rs527543745 |
259 | L>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs200794276 CA3754481 |
262 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 263 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363665256 rs1169301012 |
264 | N>D | No |
TOPMed gnomAD ClinGen |
|
|
CA3754480 rs754813490 |
264 | N>S | No |
ExAC gnomAD ClinGen |
|
|
rs753364161 CA3754479 |
265 | Q>* | No |
ExAC TOPMed ClinGen |
|
|
CA363665246 rs1581685632 |
265 | Q>H | No |
Ensembl ClinGen |
|
|
rs1001362190 CA137076601 |
265 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3754477 rs755529516 |
267 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA3754476 rs749913793 |
267 | I>T | No |
ExAC gnomAD ClinGen |
|
|
rs767054969 CA3754475 |
268 | E>K | No |
ExAC gnomAD ClinGen |
|
|
rs762305506 CA3754474 |
271 | C>R | No |
ClinGen ExAC gnomAD |
|
|
COSM2157436 rs141256696 CA3754472 |
273 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA3754471 rs763386101 |
273 | R>H | No |
ExAC gnomAD ClinGen |
|
|
rs775521972 CA3754470 |
274 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs770082456 CA3754469 |
274 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363665191 rs770082456 |
274 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363665174 rs367702951 |
277 | R>* | No |
1000Genomes ESP TOPMed gnomAD ClinGen |
|
|
rs367702951 CA137076559 |
277 | R>G | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs201331161 CA3754468 |
277 | R>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs201331161 CA3754467 |
277 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA363665158 rs1465496435 |
280 | R>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA3754466 rs771205281 |
280 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs748867634 CA3754465 |
281 | L>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363665153 rs1170011184 |
281 | L>P | No |
gnomAD ClinGen |
|
|
CA3754462 rs768287636 |
285 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA3754463 rs778925439 |
285 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA363665130 rs778925439 |
285 | P>T | No |
ExAC gnomAD ClinGen |
|
|
rs1001922739 CA137076532 |
287 | H>Q | No |
ClinGen Ensembl |
|
|
rs749139919 CA3754461 |
292 | T>I | No |
ExAC gnomAD ClinGen |
|
|
CA3754460 rs779754254 |
293 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779754254 CA363665077 |
293 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs368984536 CA3754439 |
295 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3754435 rs758935077 |
303 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs765574051 CA3754433 |
306 | V>A | No |
ExAC gnomAD ClinGen |
|
|
CA3754434 rs753215000 |
306 | V>L | No |
ExAC gnomAD ClinGen |
|
|
CA363664979 rs1209494525 |
307 | G>E | No |
gnomAD ClinGen |
|
|
rs1268098701 CA363664982 |
307 | G>R | No |
gnomAD ClinGen |
|
|
rs369368650 CA3754432 |
308 | K>E | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363664965 rs1269794871 |
309 | I>T | No |
TOPMed gnomAD ClinGen |
|
|
CA3754431 rs571096364 |
312 | A>G | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA3754430 rs374906212 |
314 | N>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs913436922 CA137076390 |
314 | N>S | No |
gnomAD ClinGen |
|
|
CA137076385 rs371734662 |
316 | R>* | No |
ESP TOPMed gnomAD ClinGen |
|
|
CA363664925 rs1372332521 |
316 | R>L | No |
gnomAD ClinGen |
|
|
rs1372332521 CA363664927 |
316 | R>Q | No |
gnomAD ClinGen |
|
| TCGA novel | 318 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145596280 CA3754429 |
319 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
COSM1232595 CA363664911 rs1166574083 |
319 | R>W | large_intestine [Cosmic] | No |
gnomAD ClinGen cosmic curated |
|
rs775292869 CA3754425 |
321 | D>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3754426 rs775292869 COSM291650 |
321 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA3754427 rs775292869 |
321 | D>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs192701143 CA3754424 |
322 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA137076338 rs1016069066 |
323 | M>V | No |
ClinGen TOPMed |
|
|
rs1016183002 CA137076321 |
324 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs776222936 CA3754422 |
327 | P>A | No |
ExAC gnomAD ClinGen |
|
|
CA363664805 rs746685125 |
328 | Y>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3754421 rs770535669 |
328 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs777335544 CA3754419 |
329 | N>K | No |
ExAC ClinGen |
|
|
rs757854724 CA3754418 |
330 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3754417 rs748633871 |
330 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA3754415 rs755355646 |
331 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464251801 CA363664756 |
332 | I>F | No |
gnomAD ClinGen |
|
|
CA363664730 rs1432059931 |
333 | H>P | No |
TOPMed ClinGen |
|
|
rs1177833180 CA363664740 |
333 | H>Y | No |
TOPMed ClinGen |
|
|
CA363664694 CA137076236 rs1026189003 |
335 | G>R | No |
ClinGen gnomAD |
|
|
rs1030441297 CA137076231 |
336 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA363664654 rs1254906509 |
337 | S>I | No |
TOPMed gnomAD ClinGen |
|
|
CA363664656 rs1254906509 |
337 | S>T | No |
TOPMed gnomAD ClinGen |
|
|
CA137076202 rs997207761 |
338 | N>D | No |
TOPMed ClinGen |
|
|
CA363664626 rs1231436129 |
338 | N>I | No |
TOPMed gnomAD ClinGen |
|
|
CA363664628 rs1231436129 |
338 | N>S | No |
TOPMed gnomAD ClinGen |
|
|
CA3754412 rs756346756 |
339 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs14398 VAR_022025 CA3754397 |
341 | V>A | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
| rs14398 | 341 | V>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749868173 CA3754394 |
344 | W>C | No |
ExAC gnomAD ClinGen |
|
|
CA137076045 rs913468150 |
346 | P>L | No |
Ensembl ClinGen |
|
|
CA363664369 rs1450622602 |
348 | M>R | No |
gnomAD ClinGen |
|
|
rs780561225 CA3754393 |
348 | M>V | No |
ExAC gnomAD ClinGen |
|
|
CA137076035 rs1053243906 |
349 | K>R | No |
TOPMed ClinGen |
|
|
rs938819705 CA137076029 |
350 | E>K | No |
Ensembl ClinGen |
|
| TCGA novel | 354 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363664227 rs1312775085 |
356 | L>V | No |
gnomAD ClinGen |
|
|
CA363664216 rs1372510011 |
357 | C>R | No |
gnomAD ClinGen |
|
|
CA137076011 rs928753704 |
357 | C>Y | No |
Ensembl ClinGen |
|
|
CA363664194 COSM4155190 rs1363554537 |
358 | H>Y | kidney [Cosmic] | No |
TOPMed ClinGen cosmic curated |
|
CA3754391 rs750599381 |
359 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1164841117 CA363664142 |
361 | G>R | No |
gnomAD ClinGen |
|
|
rs182915266 CA3754390 |
363 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3754388 rs751604897 |
363 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs182915266 CA3754389 |
363 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA137076008 rs909243964 |
364 | A>V | No |
ClinGen Ensembl |
|
|
rs1289145103 CA363664077 |
365 | V>A | No |
gnomAD ClinGen |
|
|
CA3754387 rs764204609 |
367 | V>I | No |
ExAC gnomAD ClinGen |
|
|
rs759451979 CA3754386 |
369 | S>C | No |
ExAC gnomAD ClinGen |
|
|
CA363664017 rs1439437112 |
369 | S>T | No |
TOPMed ClinGen |
|
|
rs766107609 CA3754384 |
370 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3754383 rs376772767 |
371 | G>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs376772767 CA137075985 |
371 | G>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3754382 rs772882472 |
372 | T>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363663973 rs772882472 |
372 | T>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363661631 rs1452712101 |
374 | M>T | No |
TOPMed gnomAD ClinGen |
|
|
CA3754364 rs753729041 COSM185900 |
375 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1051862080 CA137071714 |
376 | T>I | No |
TOPMed ClinGen |
|
|
rs766261810 CA3754363 |
380 | D>Y | No |
ExAC gnomAD ClinGen |
|
|
rs756118182 CA3754362 |
381 | H>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3754361 rs750165261 |
383 | L>P | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 384 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363661389 rs761554438 |
385 | I>M | No |
ExAC gnomAD ClinGen |
|
|
CA363661317 rs1371316593 |
388 | L>F | No |
ClinGen gnomAD |
|
|
rs774149911 CA3754358 |
389 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs774149911 CA363661314 |
389 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA3754357 rs763640358 |
389 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs776098675 CA3754355 |
391 | T>M | No |
ExAC gnomAD ClinGen |
|
|
CA3754353 rs746432796 COSM374539 |
392 | Y>* | lung [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
rs1389342352 CA363661262 |
392 | Y>H | No |
ClinGen gnomAD |
|
|
rs770166059 CA3754354 |
392 | Y>S | No |
ExAC gnomAD ClinGen |
|
|
rs776841821 CA3754352 |
393 | Q>R | No |
ClinGen ExAC |
|
| TCGA novel | 397 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 397 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777997886 CA3754350 |
398 | R>P | No |
ExAC gnomAD ClinGen |
|
|
rs777997886 CA3754349 COSM185899 |
398 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA3754351 rs375789917 |
398 | R>W | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs372868692 CA3754348 |
400 | L>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 402 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363660987 rs1468270878 |
402 | H>R | No |
gnomAD ClinGen |
|
|
rs779101149 CA3754346 |
403 | G>A | No |
ExAC gnomAD ClinGen |
|
|
CA363660974 rs1466504209 |
403 | G>R | Variant assessed as Somatic; 9.241e-05 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1247511165 CA363660891 |
405 | G>E | No |
TOPMed ClinGen |
|
|
rs755993142 CA3754345 |
406 | H>N | No |
ExAC gnomAD ClinGen |
|
|
CA363660843 rs1581667599 |
408 | A>V | No |
Ensembl ClinGen |
|
|
CA137071648 rs922800466 |
409 | F>S | No |
Ensembl ClinGen |
|
|
CA137071651 rs930233527 |
409 | F>V | No |
Ensembl ClinGen |
|
|
CA137071647 rs976869483 |
410 | S>Y | No |
Ensembl ClinGen |
|
|
rs1264019389 CA363660792 |
411 | Q>P | No |
TOPMed ClinGen |
|
|
rs868705068 CA137071641 |
412 | R>G | No |
TOPMed ClinGen |
|
|
rs750442823 CA3754344 |
413 | G>R | No |
ExAC gnomAD ClinGen |
|
|
rs751207125 CA363660686 |
417 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3754341 rs751207125 |
417 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1288015437 CA363660646 |
419 | M>T | No |
TOPMed gnomAD ClinGen |
|
|
rs925267861 CA137071609 |
419 | M>V | No |
TOPMed ClinGen |
|
|
rs774838443 CA3754338 |
421 | D>G | No |
ExAC gnomAD ClinGen |
|
|
rs759952282 CA3754336 |
422 | V>A | No |
ExAC gnomAD ClinGen |
|
|
CA3754337 rs200282061 |
422 | V>I | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3754335 rs777212611 |
423 | V>I | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 424 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331642005 CA363660553 |
424 | N>S | No |
gnomAD ClinGen |
|
| TCGA novel | 424 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3754334 rs771240642 |
426 | W>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1581667278 CA363660515 |
426 | W>R | No |
Ensembl ClinGen |
|
|
CA3754332 rs747407751 |
428 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs913095948 CA137071579 |
429 | Q>* | No |
TOPMed gnomAD ClinGen |
|
|
CA3754331 rs773610000 |
430 | G>S | No |
ExAC gnomAD ClinGen |
|
|
CA3754330 rs772260654 |
431 | K>R | No |
ExAC ClinGen |
|
|
CA363660401 rs1393930610 |
432 | A>P | No |
TOPMed ClinGen |
|
|
rs959967986 CA137071575 |
433 | S>G | No |
Ensembl ClinGen |
|
|
rs1210967362 CA363660352 |
434 | P>S | No |
gnomAD ClinGen |
|
|
CA137071559 rs992676406 |
436 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs755090526 CA3754327 |
438 | E>* | No |
ExAC gnomAD ClinGen |
|
|
rs1581667038 CA363660226 |
440 | P>S | No |
Ensembl ClinGen |
|
|
CA3754326 rs186499281 |
443 | T>A | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs540529990 CA363660124 |
445 | R>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3754323 rs540529990 |
445 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs139685455 CA3754325 |
445 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1198928840 CA363660039 |
450 | V>A | No |
TOPMed ClinGen |
|
|
CA363660052 CA137071518 rs747042429 |
450 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs747042429 CA363660053 |
450 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
rs572889895 CA3754321 |
452 | G>R | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs572889895 CA3754320 |
452 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752457254 CA3754319 |
454 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
CA3754318 rs150622795 |
457 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363659833 rs1416363166 |
458 | F>L | No |
gnomAD ClinGen |
|
|
rs1427079674 CA363659841 |
458 | F>S | No |
gnomAD ClinGen |
|
|
CA363659696 rs1485600672 |
463 | G>V | No |
gnomAD ClinGen |
|
| TCGA novel | 464 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363659688 rs1255503423 |
464 | V>L | No |
gnomAD ClinGen |
|
| TCGA novel | 464 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465126182 CA363659657 |
465 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 466 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363659569 rs1190466622 |
467 | T>A | No |
TOPMed ClinGen |
|
|
rs1481113306 CA363659512 |
468 | G>E | No |
gnomAD ClinGen |
|
|
rs1207373422 CA363659532 |
468 | G>R | No |
gnomAD ClinGen |
|
| TCGA novel | 469 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759112796 CA363659402 |
471 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3754317 rs759112796 |
471 | T>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1323315839 CA363659386 |
472 | S>T | No |
gnomAD ClinGen |
|
|
CA137071461 rs1015980410 |
473 | M>I | No |
Ensembl ClinGen |
|
|
rs1232615493 CA363659310 |
475 | V>A | No |
gnomAD ClinGen |
|
|
CA3754303 rs777702547 |
477 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758269221 CA3754302 |
478 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs553621585 CA3754301 |
478 | A>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA363659118 rs535388081 |
479 | G>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3754300 rs535388081 |
479 | G>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs754628658 CA363659066 CA3754299 |
480 | E>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA137071289 rs571165876 |
484 | D>N | No |
1000Genomes gnomAD ClinGen |
|
|
CA137071285 rs571165876 |
484 | D>Y | No |
1000Genomes gnomAD ClinGen |
|
|
rs1302196489 CA363658935 |
485 | G>D | No |
gnomAD ClinGen |
|
|
rs1369267697 CA363658737 |
490 | P>L | No |
gnomAD ClinGen |
|
|
CA3754295 rs183527731 |
493 | S>N | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA363658628 TCGA novel rs1384866295 |
493 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD NCI-TCGA ClinGen |
|
CA3754294 rs183527731 |
493 | S>T | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs201761172 CA3754292 |
494 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs201761172 CA3754291 |
494 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3754293 rs777676380 |
494 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1414666471 CA363658531 |
495 | K>N | No |
TOPMed gnomAD ClinGen |
|
|
rs191006646 CA3754290 |
497 | R>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs191006646 CA137071253 |
497 | R>G | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3754289 rs763132522 |
497 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3754288 rs775695904 |
498 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1400449400 CA363658271 |
503 | K>* | No |
ClinGen TOPMed |
|
|
CA3754287 rs770062958 |
503 | K>N | No |
ExAC gnomAD ClinGen |
|
|
CA3754286 rs746873322 |
506 | L>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs746873322 CA363658202 |
506 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3754268 rs201671590 |
512 | E>* | No |
ExAC TOPMed ClinGen |
|
|
rs200631390 CA3754267 |
512 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3754266 rs775633418 |
513 | L>P | No |
ExAC gnomAD ClinGen |
|
|
rs774193035 CA3754265 |
515 | C>Y | No |
ExAC gnomAD ClinGen |
|
|
CA363657514 rs1217891113 |
518 | P>R | No |
TOPMed ClinGen |
|
|
rs142850284 CA3754264 |
519 | R>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3754263 rs772459571 COSM1196844 |
519 | R>Q | lung [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA3754262 rs779705594 |
520 | A>S | No |
ExAC gnomAD ClinGen |
|
|
rs755579192 CA3754261 |
520 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748713597 CA3754260 |
521 | L>V | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 522 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752068623 CA3754257 |
523 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363657311 rs1215922238 |
524 | V>L | No |
gnomAD ClinGen |
|
|
rs1336169274 CA363657232 |
526 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA363657104 rs1231958950 |
528 | S>P | No |
gnomAD ClinGen |
|
|
rs1375650709 CA363656961 |
531 | Q>H | No |
gnomAD ClinGen |
|
|
CA3754255 rs758701039 |
532 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA363656921 rs1334200400 |
533 | K>E | No |
gnomAD ClinGen |
|
|
rs752915965 CA3754254 |
534 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363656801 rs1393405806 |
536 | Q>E | No |
gnomAD ClinGen |
|
| TCGA novel | 536 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161702516 CA363656656 |
539 | R>M | No |
TOPMed ClinGen |
|
|
CA363656635 rs1402313414 |
540 | L>P | No |
TOPMed gnomAD ClinGen |
|
|
CA3754235 COSM242247 rs372414839 |
544 | P>L | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs766424490 CA3754233 |
545 | Q>K | No |
ExAC gnomAD ClinGen |
|
|
rs1581662253 CA363656361 |
546 | A>V | No |
Ensembl ClinGen |
|
|
rs369645656 CA3754232 |
547 | K>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1372263384 CA363656167 |
551 | Q>R | No |
TOPMed ClinGen |
|
|
rs541560399 CA137070576 |
554 | P>Q | No |
Ensembl ClinGen |
|
|
rs145599893 CA3754230 |
559 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs763905345 CA3754229 |
559 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1301050574 CA363655688 |
562 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 562 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581662107 CA363655651 |
562 | T>M | No |
Ensembl ClinGen |
|
|
rs201579094 CA137070529 |
569 | K>R | No |
Ensembl ClinGen |
|
|
CA3754225 rs759118701 |
570 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA363655206 COSM1077991 rs759118701 |
570 | R>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1562609758 CA363655131 |
572 | V>F | No |
ClinGen Ensembl |
|
|
rs1562609758 CA363655140 |
572 | V>I | No |
Ensembl ClinGen |
|
|
CA3754223 rs199947160 |
573 | M>T | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs3185180 CA137070509 |
576 | E>D | No |
Ensembl ClinGen |
|
|
rs770423969 CA3754222 |
577 | H>R | No |
ExAC gnomAD ClinGen |
|
|
rs776304058 CA3754206 |
582 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs776304058 CA3754205 |
582 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs764950576 CA3754207 |
582 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs765928355 CA3754204 |
584 | S>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs200961844 CA363652396 CA3754202 |
584 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765928355 CA363652425 |
584 | S>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1254108441 CA363652360 |
585 | L>F | No |
gnomAD ClinGen |
|
|
rs1179188718 CA363652328 |
586 | Q>R | No |
gnomAD ClinGen |
|
|
rs988320327 CA137070416 |
589 | H>Q | No |
TOPMed ClinGen |
|
|
rs1250618776 CA363652130 |
590 | H>R | No |
gnomAD ClinGen |
|
|
rs747922234 CA3754201 |
591 | K>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3754200 rs781052336 |
592 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1077990 rs775020981 CA3754199 |
593 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1204786269 CA363651995 |
594 | K>N | No |
TOPMed ClinGen |
|
|
rs780515245 CA3754196 |
595 | A>V | No |
ExAC ClinGen |
|
|
CA137070402 rs574210574 |
597 | P>L | No |
Ensembl ClinGen |
|
|
CA3754195 rs756275791 |
598 | T>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs781180807 CA3754193 |
600 | A>V | No |
ClinGen ExAC |
|
|
rs141695400 CA3754191 |
601 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3754189 rs546199588 |
601 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs141695400 CA3754190 |
601 | R>W | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1184829791 CA363651827 |
602 | P>L | No |
TOPMed ClinGen |
|
|
rs1298011607 CA363651771 |
604 | A>V | No |
gnomAD ClinGen |
|
|
CA363651659 rs1444983879 |
607 | R>G | No |
gnomAD ClinGen |
|
|
rs1419122254 CA363651637 |
607 | R>K | No |
TOPMed ClinGen |
|
| TCGA novel | 608 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397084954 CA363651607 |
608 | F>L | No |
gnomAD ClinGen |
|
|
rs148252283 CA3754188 |
610 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3754186 rs552702217 |
610 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs552702217 CA3754187 |
610 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
No associated diseases with O15213
No regional properties for O15213
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O15213 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| small-subunit processome | A large ribonucleoprotein complex that is an early preribosomal complex. In S. cerevisiae, it has a size of 80S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | Any process involved in the maturation of a precursor Small SubUnit (SSU) ribosomal RNA (rRNA) molecule into a mature SSU-rRNA molecule from the pre-rRNA molecule originally produced as a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, 5.8S rRNA, and the Large Subunit (LSU) in that order from 5' to 3' along the primary transcript. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| METAPKPGKD | VPPKKDKLQT | KRKKPRRYWE | EETVPTTAGA | SPGPPRNKKN | RELRPQRPKN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AYILKKSRIS | KKPQVPKKPR | EWKNPESQRG | LSGTQDPFPG | PAPVPVEVVQ | KFCRIDKSRK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LPHSKAKTRS | RLEVAEAEEE | ETSIKAARSE | LLLAEEPGFL | EGEDGEDTAK | ICQADIVEAV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DIASAAKHFD | LNLRQFGPYR | LNYSRTGRHL | AFGGRRGHVA | ALDWVTKKLM | CEINVMEAVR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DIRFLHSEAL | LAVAQNRWLH | IYDNQGIELH | CIRRCDRVTR | LEFLPFHFLL | ATASETGFLT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YLDVSVGKIV | AALNARAGRL | DVMSQNPYNA | VIHLGHSNGT | VSLWSPAMKE | PLAKILCHRG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GVRAVAVDST | GTYMATSGLD | HQLKIFDLRG | TYQPLSTRTL | PHGAGHLAFS | QRGLLVAGMG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DVVNIWAGQG | KASPPSLEQP | YLTHRLSGPV | HGLQFCPFED | VLGVGHTGGI | TSMLVPGAGE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PNFDGLESNP | YRSRKQRQEW | EVKALLEKVP | AELICLDPRA | LAEVDVISLE | QGKKEQIERL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GYDPQAKAPF | QPKPKQKGRS | STASLVKRKR | KVMDEEHRDK | VRQSLQQQHH | KEAKAKPTGA |
| RPSALDRFVR |