O94763
Gene name |
URI1 (C19orf2, NNX3, PPP1R19, RMP, URI) |
Protein name |
Unconventional prefoldin RPB5 interactor 1 |
Names |
Protein NNX3, Protein phosphatase 1 regulatory subunit 19, RNA polymerase II subunit 5-mediating protein, RPB5-mediating protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8725 |
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
1 structures for O94763
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O94763-F1 | Predicted | AlphaFoldDB |
496 variants for O94763
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA405140587 rs1236599761 |
2 | E>* | No |
ClinGen gnomAD |
|
|
CA405140598 rs1215776464 |
3 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 4 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405140620 rs1272789107 |
7 | E>A | No |
ClinGen TOPMed |
|
|
CA405140623 rs1189543395 |
7 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA405140630 rs1318836334 |
8 | T>M | No |
ClinGen TOPMed |
|
|
CA405140633 rs1242462636 |
9 | P>A | No |
ClinGen TOPMed |
|
|
rs1418351083 CA405140636 |
9 | P>L | No |
ClinGen gnomAD |
|
|
CA405140632 rs1242462636 |
9 | P>S | No |
ClinGen TOPMed |
|
|
rs942167206 CA306818110 |
10 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA306818119 rs942167206 |
10 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746162017 CA9352490 |
10 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA405140644 rs1292611943 |
11 | D>G | No |
ClinGen TOPMed |
|
|
CA306818126 rs993558337 |
11 | D>N | No |
ClinGen TOPMed |
|
|
rs551935451 CA405140648 |
12 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA306818187 rs1013336536 |
12 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9352494 rs551935451 |
12 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405140647 rs551935451 |
12 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9352495 rs763524587 |
13 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA405140654 rs1390372356 |
13 | S>P | No |
ClinGen gnomAD |
|
|
CA405140672 rs1228130868 |
14 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA405140666 rs1356554097 |
14 | P>S | No |
ClinGen gnomAD |
|
|
CA405140679 rs1266883583 |
15 | P>L | No |
ClinGen TOPMed |
|
|
CA9352496 rs763718000 |
15 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405140686 rs1313875784 |
16 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA405140684 rs1451315142 |
16 | S>P | No |
ClinGen Ensembl |
|
|
rs773692912 CA9352498 |
17 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9352499 rs761530942 |
18 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA405140706 rs1484382994 |
18 | P>R | No |
ClinGen gnomAD |
|
|
rs1257755459 CA405140716 |
19 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1257755459 CA405140712 |
19 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA405140721 rs1236164838 |
19 | A>V | No |
ClinGen TOPMed |
|
|
rs750072934 CA9352502 |
20 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs969075996 CA306818245 |
21 | A>P | No |
ClinGen TOPMed |
|
|
CA405140730 rs969075996 |
21 | A>T | No |
ClinGen TOPMed |
|
|
CA9352503 rs189187 VAR_056978 |
22 | L>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1599656384 CA405140754 |
23 | V>G | No |
ClinGen Ensembl |
|
|
CA9352505 rs753819220 |
23 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352506 rs754863175 |
24 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1377461074 CA405140755 |
24 | P>T | No |
ClinGen TOPMed |
|
|
rs777942561 CA405140766 |
25 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA9352507 rs777942561 |
25 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs757515487 CA9352509 |
27 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9352508 rs746997794 |
27 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs531169826 CA9352511 |
28 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9352514 rs12984378 |
29 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405140810 rs12977890 |
29 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9352512 rs770324421 |
29 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs12977890 CA9352513 |
29 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773924540 CA9352516 |
31 | A>T | No |
ClinGen ExAC |
|
|
rs761282463 CA9352517 |
32 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA405140845 rs1342587529 |
33 | L>V | No |
ClinGen TOPMed |
|
|
rs1193648880 CA405140851 |
34 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA405140852 rs1252442263 |
34 | R>L | No |
ClinGen gnomAD |
|
|
CA9352519 rs772777085 |
35 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA405140897 rs1251022155 |
36 | E>G | No |
ClinGen gnomAD |
|
|
CA9352520 rs760295998 |
38 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1460919277 CA405140936 |
39 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9352553 rs754107926 |
40 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306831752 rs982041570 |
41 | V>F | No |
ClinGen Ensembl |
|
|
rs1233849223 CA405143354 |
42 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs755338534 CA9352554 |
44 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs779312870 CA9352555 |
45 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs748622875 CA9352556 |
45 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA306831760 rs926645667 |
46 | E>K | No |
ClinGen Ensembl |
|
|
CA405143446 rs1447814505 |
47 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 52 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747510327 CA9352584 |
52 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs894143952 CA306837649 |
54 | V>G | No |
ClinGen TOPMed |
|
|
CA405145776 rs1458501594 |
55 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9352585 rs756805150 |
56 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1043994721 CA306837654 |
56 | N>S | No |
ClinGen TOPMed |
|
|
CA405145809 rs1289038190 |
57 | D>E | No |
ClinGen gnomAD |
|
|
CA405145805 rs1278528881 |
57 | D>G | No |
ClinGen gnomAD |
|
|
rs780661066 CA9352586 |
58 | Y>C | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA405145881 rs1251134751 |
62 | R>G | No |
ClinGen gnomAD |
|
|
rs745532513 CA9352587 |
62 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 64 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1179516967 CA405145928 |
65 | L>F | No |
ClinGen gnomAD |
|
|
CA405145967 rs1251836657 |
66 | S>T | No |
ClinGen gnomAD |
|
|
CA405146070 rs1241751277 |
71 | K>Q | No |
ClinGen Ensembl |
|
|
CA9352589 rs775159256 |
71 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 75 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 77 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 78 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9352624 rs765228231 |
78 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405146940 rs765228231 |
78 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775821792 CA9352625 |
79 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA405146958 rs1232026703 |
80 | F>I | No |
ClinGen gnomAD |
|
|
rs1012431680 CA306838133 |
83 | F>V | No |
ClinGen gnomAD |
|
|
rs757772188 CA9352629 |
84 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426620103 CA405146991 |
84 | A>V | No |
ClinGen gnomAD |
|
|
CA9352630 rs768125314 |
86 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs750887254 CA9352631 |
87 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA306838148 rs750887254 |
87 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs377763176 CA9352632 |
90 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs867728868 CA306838160 |
93 | T>N | No |
ClinGen Ensembl |
|
|
rs1311748590 CA405147063 |
94 | N>S | No |
ClinGen TOPMed |
|
|
CA306838163 rs996185017 |
96 | V>I | No |
ClinGen Ensembl |
|
|
rs1418483482 CA405147098 |
97 | T>S | No |
ClinGen gnomAD |
|
|
rs145433944 CA9352634 |
100 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9352636 rs371470043 |
101 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9352638 rs747895169 |
102 | D>N | No |
ClinGen ExAC gnomAD |
|
| rs754569782 | 102 | D>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771980248 CA9352640 |
103 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1357688874 CA405147163 |
104 | W>* | No |
ClinGen gnomAD |
|
|
CA9352641 rs777834835 |
105 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA405147191 rs1318145511 |
107 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9352643 rs769970139 |
107 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA405147225 rs1451429639 |
110 | A>T | No |
ClinGen gnomAD |
|
|
rs929285963 CA306838190 |
112 | Q>* | No |
ClinGen TOPMed |
|
|
CA9352646 rs768801845 |
113 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA405147262 rs1257899587 |
113 | A>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 113 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405147260 rs1257899587 |
113 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs370568674 CA405147279 |
115 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9352648 rs149206403 |
115 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9352647 rs370568674 |
115 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149206403 CA9352649 |
115 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405147286 rs112541086 |
116 | L>I | No |
ClinGen TOPMed |
|
|
CA405147320 rs188951746 CA9352652 |
118 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1452789507 CA405147323 |
119 | H>N | No |
ClinGen TOPMed |
|
|
rs753330651 CA9352653 |
119 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754690097 CA9352654 |
120 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306838230 rs1057098287 |
120 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs778768580 CA9352655 |
121 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA405147367 rs1288585465 |
122 | E>D | No |
ClinGen TOPMed |
|
|
CA9352659 rs200364419 |
123 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306821625 rs1036522223 |
123 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA405145593 rs1036522223 |
123 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs200364419 CA9352657 |
123 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323883096 CA405145600 |
124 | V>I | No |
ClinGen gnomAD |
|
|
CA9352685 rs200596493 |
125 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405145631 rs1470187859 |
126 | K>R | No |
ClinGen TOPMed |
|
|
CA9352686 rs772118177 |
129 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1318267240 CA405145681 |
130 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1232653363 CA405145726 |
131 | L>F | No |
ClinGen gnomAD |
|
|
CA9352687 rs200193659 |
132 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9352688 rs747390009 |
133 | K>T | No |
ClinGen ExAC TOPMed |
|
| rs1568443871 | 134 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467248906 CA405145781 |
134 | V>L | No |
ClinGen gnomAD |
|
|
rs201965478 CA9352689 |
135 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201965478 CA9352690 |
135 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1268077881 CA405145832 |
136 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA405145829 rs1268077881 |
136 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9352691 rs199910353 |
137 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 138 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 138 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405145897 rs1568443910 |
139 | E>K | No |
ClinGen Ensembl |
|
|
rs1265829030 CA405145958 |
140 | S>F | No |
ClinGen gnomAD |
|
|
CA405145966 rs1385654392 |
141 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1164885403 CA405145992 |
142 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9352692 rs201586355 |
143 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1056250739 CA306821655 |
144 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA405146058 rs1163333249 |
145 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 146 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762675293 CA9352694 |
147 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs553078220 CA9352695 |
148 | L>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751214399 CA9352696 |
150 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA405146258 CA405146257 rs767273785 |
152 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352700 rs545234427 |
153 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778969221 CA9352701 |
153 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545234427 CA9352699 |
153 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143348334 CA405146425 |
154 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143348334 CA405146428 |
154 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143348334 CA9352723 |
154 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405146464 rs1394871675 |
156 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9352726 rs751752972 |
157 | D>V | No |
ClinGen ExAC |
|
|
CA405146503 rs1204354808 |
158 | I>F | No |
ClinGen gnomAD |
|
|
CA405146518 rs1179983818 |
158 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs373724542 CA9352727 |
158 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1380308911 CA405146561 |
160 | D>V | No |
ClinGen gnomAD |
|
|
rs781696245 CA9352728 |
161 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA405146600 rs746182493 |
162 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352729 rs746182493 |
162 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1486036777 CA405146610 |
163 | E>* | No |
ClinGen TOPMed |
|
|
CA405146693 rs1479341365 |
166 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9352730 rs148342810 |
167 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148342810 CA405146710 |
167 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA306821851 rs749777203 |
170 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9352732 rs749777203 |
170 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352752 rs769137217 |
174 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778299485 CA9352753 |
175 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA9352754 rs747714196 |
175 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771563788 CA9352755 |
176 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772890952 CA9352756 |
176 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306822898 rs772890952 |
176 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770656465 CA9352758 |
177 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 178 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9352759 rs776447992 |
179 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1478660014 CA405147146 |
179 | H>Y | No |
ClinGen gnomAD |
|
|
rs137929297 CA9352761 |
181 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145377110 CA9352760 |
181 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9352763 rs762053490 |
182 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs767677021 CA9352764 |
185 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA405147264 rs1288489987 |
186 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs750691974 CA9352766 |
187 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750691974 CA9352765 |
187 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766654829 CA9352767 |
189 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs201389473 CA405147324 |
190 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201389473 CA9352768 |
190 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA405147340 rs1227041233 |
191 | F>L | No |
ClinGen gnomAD |
|
|
CA405147370 rs1291427726 |
193 | A>G | No |
ClinGen gnomAD |
|
|
CA9352769 rs755283442 |
194 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA306822961 rs190941585 |
195 | I>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs77744376 CA306822966 |
196 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9352771 rs748622260 |
197 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs757953945 CA9352772 |
197 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs35808349 CA9352773 |
198 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA306822980 rs1034068395 |
198 | D>N | No |
ClinGen Ensembl |
|
|
rs1043422475 CA306822985 |
201 | S>Y | No |
ClinGen TOPMed |
|
|
CA405147487 rs984305445 |
202 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA306822987 rs984305445 |
202 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9352775 rs770552592 |
205 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746696922 CA9352774 |
205 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs776307122 CA9352776 |
206 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1017556157 CA306822998 |
209 | E>K | No |
ClinGen Ensembl |
|
|
CA405147612 rs1450997889 |
210 | L>P | No |
ClinGen gnomAD |
|
|
rs369899938 CA306823003 |
213 | R>* | No |
ClinGen ESP TOPMed |
|
|
rs769475335 CA9352778 |
213 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352779 rs769475335 |
213 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767732282 CA9352781 |
215 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9352780 rs762932076 |
215 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs892035685 CA306823018 |
216 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9352782 rs773357097 |
217 | L>R | No |
ClinGen ExAC |
|
|
rs760817697 CA9352784 |
220 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352785 rs766679979 |
220 | Q>R | No |
ClinGen ExAC |
|
|
rs754000804 CA9352786 |
221 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9352788 rs765496747 |
223 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405147722 rs1237982024 |
227 | L>H | No |
ClinGen gnomAD |
|
|
rs1176707994 CA405147725 |
228 | D>Y | No |
ClinGen gnomAD |
|
|
CA405147732 rs1294004282 |
229 | S>G | No |
ClinGen gnomAD |
|
|
CA9352801 rs749238754 |
231 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA405148299 rs749238754 |
231 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9352803 rs548314725 |
232 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352802 rs548314725 |
232 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279234 RCV000201379 rs863223392 |
233 | T>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs770885228 CA9352805 |
236 | A>T | No |
ClinGen ExAC |
|
|
CA9352807 rs776960995 |
237 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1438087517 CA405148338 |
237 | N>S | No |
ClinGen gnomAD |
|
|
CA306823582 rs1007269455 |
238 | G>R | No |
ClinGen TOPMed |
|
|
CA9352809 rs759629218 |
240 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs963007878 CA306823591 |
241 | T>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 241 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198711718 CA405148380 |
244 | S>P | No |
ClinGen TOPMed |
|
|
rs765622461 CA9352810 |
245 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs752995238 CA9352811 |
247 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201327388 CA405148416 |
249 | E>* | No |
ClinGen gnomAD |
|
|
rs763464960 CA9352812 |
249 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1247705925 CA405148425 |
250 | D>G | No |
ClinGen gnomAD |
|
|
rs764646236 CA9352813 |
250 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs373823921 CA9352814 |
251 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9352815 rs756836475 |
251 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352816 rs780549472 |
252 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475597277 CA405148444 |
253 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs150496764 CA9352817 |
255 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405148470 rs138648155 |
257 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138648155 CA9352818 |
257 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405148476 rs1388179006 |
258 | M>T | No |
ClinGen gnomAD |
|
|
rs1409258435 CA405148484 |
259 | H>P | No |
ClinGen TOPMed |
|
| TCGA novel | 260 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749149659 CA9352820 |
261 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165213845 CA405148503 |
262 | T>A | No |
ClinGen TOPMed |
|
|
CA405148515 rs1325704849 |
263 | D>E | No |
ClinGen gnomAD |
|
|
CA306823635 rs1051437501 |
265 | H>R | No |
ClinGen gnomAD |
|
|
rs768566007 CA9352821 |
265 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1232561088 CA405148533 |
266 | T>I | No |
ClinGen gnomAD |
|
|
rs1178794281 CA405148545 |
268 | C>F | No |
ClinGen TOPMed |
|
|
CA9352823 rs779032285 |
269 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1481336543 CA405148550 |
269 | H>Y | No |
ClinGen TOPMed |
|
|
CA9352824 rs748013549 |
271 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA306823649 rs888876093 |
272 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA405148573 rs888876093 |
272 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA405148570 rs1211898672 |
272 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs112774025 CA9352825 |
273 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306823653 rs112774025 |
273 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1039874668 CA306823656 |
274 | S>N | No |
ClinGen Ensembl |
|
|
CA405148584 rs1400204759 |
274 | S>R | No |
ClinGen Ensembl |
|
|
rs1478454502 CA405148614 |
279 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 280 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9352827 rs759809910 |
281 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA306823673 rs148462749 |
283 | N>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs769948220 CA405148663 |
285 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352829 rs775678023 |
286 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs371310852 CA9352830 |
288 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9352832 rs752161061 |
289 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405148700 rs1441449831 |
291 | N>S | No |
ClinGen TOPMed |
|
|
CA9352834 rs376103188 |
292 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9352833 rs376103188 |
292 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1346190598 CA405148719 |
294 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA405148722 rs1310446292 |
295 | S>T | No |
ClinGen gnomAD |
|
|
rs926723943 CA306823706 |
296 | Y>C | No |
ClinGen TOPMed |
|
|
CA306823710 rs936653581 |
297 | H>Y | No |
ClinGen TOPMed |
|
|
rs200466034 CA306823759 |
299 | D>G | No |
ClinGen Ensembl |
|
|
CA405148760 rs1599726216 |
300 | D>G | No |
ClinGen Ensembl |
|
|
CA405148769 rs1287136418 |
301 | D>G | No |
ClinGen TOPMed |
|
|
rs1490293835 CA405148765 |
301 | D>N | No |
ClinGen TOPMed |
|
|
CA405148786 rs1218258166 |
303 | D>G | No |
ClinGen TOPMed |
|
|
rs1218258166 CA405148787 |
303 | D>V | No |
ClinGen TOPMed |
|
|
rs1052116322 CA306823769 |
303 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 304 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755670302 CA9352845 |
305 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA306823789 rs113183389 |
307 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA9352853 rs753508308 |
308 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1599726385 CA405148820 |
308 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 309 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9352856 rs748149375 |
309 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs778801300 CA9352855 |
309 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405148836 rs1480376780 |
310 | D>G | No |
ClinGen TOPMed |
|
|
rs781346860 CA9352858 |
310 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405148834 rs781346860 |
310 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769862941 CA9352861 |
311 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 311 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9352862 rs775731438 |
312 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352863 rs749493622 |
312 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1337508378 CA405148855 |
313 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1337508378 CA405148857 |
313 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA306823831 rs763315367 |
313 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA405148863 rs1599726470 |
314 | D>G | No |
ClinGen Ensembl |
|
|
CA9352866 rs188172144 |
316 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA405148906 rs1232997738 |
320 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 320 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428706394 CA405148919 |
321 | D>E | No |
ClinGen gnomAD |
|
|
CA306823843 rs983016660 |
321 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9352868 rs773761081 |
322 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA405148922 rs1568447062 |
322 | H>Y | No |
ClinGen Ensembl |
|
|
rs1456046009 CA405148929 |
323 | E>G | No |
ClinGen gnomAD |
|
|
CA9352869 rs145352288 |
323 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA306823846 rs145352288 |
323 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 323 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs151025990 CA9352870 |
324 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405148941 rs1380516222 |
325 | L>S | No |
ClinGen gnomAD |
|
|
CA9352871 rs753567522 |
327 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9352872 rs540138830 |
330 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9352875 rs758201066 |
332 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352874 rs201534752 |
332 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777640300 CA9352876 |
333 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9352877 rs746921538 |
335 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756237766 CA9352878 |
336 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1374328459 CA405149007 |
336 | Y>S | No |
ClinGen gnomAD |
|
|
rs1386384116 CA405149031 |
339 | H>R | No |
ClinGen gnomAD |
|
|
rs1374135298 CA405149035 |
340 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 340 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299668206 CA405149061 |
344 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 346 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748378354 CA9352904 |
347 | R>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 347 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405149098 rs1488720868 |
347 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1192668290 CA405149119 |
350 | T>I | No |
ClinGen gnomAD |
|
|
CA405149222 rs1172225795 |
364 | E>A | No |
ClinGen TOPMed |
|
|
rs1475906011 CA405149225 |
364 | E>D | No |
ClinGen TOPMed |
|
|
CA9352908 rs778158912 |
367 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747521758 CA9352909 |
367 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA405149254 rs1222781830 |
369 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA306824750 rs771507685 |
369 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9352910 rs771507685 |
369 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1298006709 CA405149269 |
371 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9352911 rs777265326 |
372 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405149290 rs1402454031 |
374 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1271256746 CA405149292 |
375 | S>G | No |
ClinGen gnomAD |
|
|
rs1377900049 CA405149295 |
375 | S>I | No |
ClinGen gnomAD |
|
|
rs759185458 CA405149302 |
376 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs759185458 CA9352912 |
376 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9352913 rs769319004 |
377 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA306824765 rs149845017 |
378 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs149845017 CA9352914 |
378 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762620133 CA9352915 |
379 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9352916 rs763829751 |
380 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202176858 CA9352917 |
382 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352919 rs367598872 |
383 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405149343 rs367598872 |
383 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755058946 CA9352921 |
384 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352922 rs778999345 |
386 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9352923 rs778999345 |
386 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA405149362 rs1158251941 |
387 | T>A | No |
ClinGen gnomAD |
|
|
CA9352924 rs758579896 |
387 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405149365 rs758579896 |
387 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338779708 CA405149374 |
389 | A>S | No |
ClinGen TOPMed |
|
|
CA306824819 rs1012029652 |
392 | Y>C | No |
ClinGen Ensembl |
|
|
CA405149432 rs1330312899 |
396 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779447454 CA9352952 |
398 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1326119031 CA405149453 |
399 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 404 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768120343 CA9352954 |
406 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs140683632 CA9352955 |
406 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs199895593 CA306825445 |
408 | S>F | No |
ClinGen 1000Genomes |
|
| TCGA novel | 410 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202122748 CA9352956 |
414 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771884253 CA9352957 |
414 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs201902251 CA9352959 |
417 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352960 rs760542711 |
418 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs766397820 CA405149581 |
418 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1322444534 CA405149583 |
419 | V>M | No |
ClinGen gnomAD |
|
|
rs371849144 CA9352963 |
421 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9352964 rs764248291 |
422 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751855285 CA9352965 |
423 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs200140311 CA9352966 |
424 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352969 rs756425384 |
425 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9352968 rs750745898 |
425 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405149637 rs1289428133 |
427 | S>G | No |
ClinGen gnomAD |
|
|
rs962636548 CA306825536 |
428 | A>G | No |
ClinGen TOPMed |
|
|
CA9352970 rs780647923 |
428 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 430 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749733546 CA9352971 |
433 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306825538 rs1043876 |
434 | R>G | No |
ClinGen Ensembl |
|
|
rs778352287 CA9352973 |
435 | R>Q | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9352972 rs754502991 |
435 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1374344156 CA405149694 |
436 | G>R | No |
ClinGen gnomAD |
|
|
rs1599729263 CA405149705 |
437 | V>G | No |
ClinGen Ensembl |
|
|
CA405149707 rs747802047 |
438 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162351179 CA405149716 |
439 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA405149715 rs1162351179 |
439 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1599729281 CA405149727 |
440 | S>R | No |
ClinGen Ensembl |
|
|
rs1388134826 CA405149730 |
441 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA405149729 rs1388134826 |
441 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs772726084 CA9352976 |
444 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405149751 rs772726084 |
444 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 445 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 445 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9352978 rs770601535 |
447 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs776680830 CA405149784 |
448 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306825585 rs960201188 |
449 | S>G | No |
ClinGen TOPMed |
|
|
CA405149807 rs1426992325 |
452 | S>G | No |
ClinGen TOPMed |
|
|
CA405149824 rs1453684819 |
454 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 454 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs916010752 CA306825595 |
456 | L>V | No |
ClinGen TOPMed |
|
|
rs764303297 CA9352981 |
457 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9352982 rs200935752 |
459 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293008742 CA405149875 |
461 | Q>R | No |
ClinGen gnomAD |
|
|
CA405149882 rs1264469709 |
462 | E>A | No |
ClinGen gnomAD |
|
|
rs1215155418 CA405149880 |
462 | E>Q | No |
ClinGen gnomAD |
|
|
rs1215320983 CA405149937 |
469 | P>L | No |
ClinGen TOPMed |
|
|
rs750610418 CA9352985 |
470 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1366149091 CA405149948 |
471 | S>L | No |
ClinGen gnomAD |
|
|
CA306825639 rs956815854 |
471 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs761163095 CA9352986 |
472 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA405149958 rs1568449171 |
473 | T>I | No |
ClinGen Ensembl |
|
|
CA405149964 rs1370841788 |
474 | P>L | No |
ClinGen TOPMed |
|
|
CA9352987 rs764548214 |
474 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs986967061 CA306826775 |
476 | A>T | No |
ClinGen TOPMed |
|
|
CA9353019 rs759872904 |
478 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 478 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405150173 rs1489352401 |
481 | V>L | No |
ClinGen Ensembl |
|
|
CA9353022 rs753197749 |
482 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9353021 rs373253999 |
482 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1568450542 CA405150185 |
482 | I>V | No |
ClinGen Ensembl |
|
|
CA405150206 rs1456066999 |
483 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 485 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9353023 rs546240679 |
487 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194138839 CA405150279 |
488 | S>L | No |
ClinGen gnomAD |
|
|
CA306826800 rs919984169 |
490 | S>F | No |
ClinGen TOPMed |
|
|
CA9353026 rs756817121 |
491 | L>* | No |
ClinGen ExAC |
|
|
rs1233237269 CA405150305 |
491 | L>V | No |
ClinGen gnomAD |
|
|
rs376131445 CA9353027 |
492 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405150332 rs1309045827 |
493 | P>S | No |
ClinGen TOPMed |
|
|
rs749183650 CA9353031 |
494 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA405150345 rs1256816514 |
494 | P>S | No |
ClinGen gnomAD |
|
|
rs1256816514 CA405150344 |
494 | P>T | No |
ClinGen gnomAD |
|
|
CA405150354 rs77842821 |
495 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773128187 CA9353033 |
495 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9353032 rs77842821 |
495 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs77842821 CA405150352 |
495 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432372950 CA405150367 |
496 | A>S | No |
ClinGen gnomAD |
|
|
CA9353037 rs140860233 |
499 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1393179040 CA405150430 |
500 | P>L | No |
ClinGen TOPMed |
|
|
rs199962604 CA9353039 |
501 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9353038 rs199962604 |
501 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775988779 CA9353041 |
506 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775988779 CA405150498 |
506 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306826843 rs143034255 |
508 | R>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs763301059 CA9353042 |
508 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 509 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763688609 CA9353043 |
509 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA9353045 rs756765111 |
512 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA405150615 rs750090894 |
515 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs750090894 CA9353047 |
515 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA405150636 rs1207853022 |
516 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA405150628 rs1486062255 |
516 | S>P | No |
ClinGen TOPMed |
|
|
rs1207853022 CA405150633 |
516 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs749271708 CA9353050 |
518 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779931177 CA9353049 |
518 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs990036209 CA306826855 |
519 | T>A | No |
ClinGen Ensembl |
|
|
rs778888795 CA9353052 |
520 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA405150709 rs1426813016 |
522 | R>K | No |
ClinGen gnomAD |
|
|
CA405150722 rs1167908717 |
523 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9353055 rs771039160 |
525 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1367816271 CA405150797 |
528 | A>D | No |
ClinGen gnomAD |
|
|
rs746031732 CA9353056 |
528 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 529 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406147554 CA405150812 |
529 | A>V | No |
ClinGen gnomAD |
|
|
CA9353059 rs185999361 |
531 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs185999361 CA9353058 |
531 | L>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9353060 rs764555561 |
532 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs774887145 CA9353061 |
533 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405150873 rs1293717299 |
534 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1490445060 CA405150885 |
535 | D>N | No |
ClinGen gnomAD |
No associated diseases with O94763
No regional properties for O94763
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O94763 | |||
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| chaperone complex | A protein complex required for the non-covalent folding or unfolding, maturation, stabilization or assembly or disassembly of macromolecular structures. Usually active during or immediately after completion of translation. Many chaperone complexes contain heat shock proteins. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
| RPAP3/R2TP/prefoldin-like complex | A protein complex first characterized in human and comprised of a R2TP module (R2TP complex), a prefoldin-like module (containing both prefoldin-like proteins and canonical prefoldins), WD40 repeat protein Monad/WDR92 and DNA-dependent RNA polymerase subunit RPB5. This complex might have chaperone activity. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| phosphatase inhibitor activity | Binds to and stops, prevents or reduces the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule. |
| phosphoprotein binding | Binding to a phosphorylated protein. |
| protein phosphatase inhibitor activity | Binds to and stops, prevents or reduces the activity of a protein phosphatase, an enzyme that hydrolyzes phosphate groups from phosphorylated proteins. |
| RNA polymerase II complex binding | Binding to an RNA polymerase II core enzyme, a multisubunit eukaryotic nuclear RNA polymerase typically composed of twelve subunits. |
| transcription corepressor activity | A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to growth factor stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth factor stimulus. |
| cellular response to steroid hormone stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus. |
| negative regulation of intrinsic apoptotic signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of intrinsic apoptotic signaling pathway. |
| negative regulation of phosphatase activity | Any process that decreases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| regulation of cell growth | Any process that modulates the frequency, rate, extent or direction of cell growth. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| response to virus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAPTVETPP | DPSPPSAPAP | ALVPLRAPDV | ARLREEQEKV | VTNCQERIQH | WKKVDNDYNA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LRERLSTLPD | KLSYNIMVPF | GPFAFMPGKL | VHTNEVTVLL | GDNWFAKCSA | KQAVGLVEHR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KEHVRKTIDD | LKKVMKNFES | RVEFTEDLQK | MSDAAGDIVD | IREEIKCDFE | FKAKHRIAHK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PHSKPKTSDI | FEADIANDVK | SKDLLADKEL | WARLEELERQ | EELLGELDSK | PDTVIANGED |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TTSSEEEKED | RNTNVNAMHQ | VTDSHTPCHK | DVASSEPFSG | QVNSQLNCSV | NGSSSYHSDD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DDDDDDDDDD | DNIDDDDGDN | DHEALGVGDN | SIPTIYFSHT | VEPKRVRINT | GKNTTLKFSE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KKEEAKRKRK | NSTGSGHSAQ | ELPTIRTPAD | IYRAFVDVVN | GEYVPRKSIL | KSRSRENSVC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SDTSESSAAE | FDDRRGVLRS | ISCEEATCSD | TSESILEEEP | QENQKKLLPL | SVTPEAFSGT |
| 490 | 500 | 510 | 520 | 530 | |
| VIEKEFVSPS | LTPPPAIAHP | ALPTIPERKE | VLLEASEETG | KRVSKFKAAR | LQQKD |