P19474
PR
Gene name |
TRIM21 |
Protein name |
E3 ubiquitin-protein ligase TRIM21 |
Names |
52 kDa Ro protein, 52 kDa ribonucleoprotein autoantigen Ro/SS-A, RING finger protein 81, RING-type E3 ubiquitin transferase TRIM21, Ro(SS-A), Sjoegren syndrome type A antigen, SS-A, Tripartite motif-containing protein 21 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6737 |
EC number |
2.3.2.27: Aminoacyltransferases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
8 structures for P19474
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2IWG | X-ray | 235 A | B/E | 287-465 | PDB |
| 5JPX | NMR | - | A | 86-130 | PDB |
| 5OLM | X-ray | 195 A | A/B | 1-129 | PDB |
| 6FGA | X-ray | 282 A | A/B/C/D/E/F/G/H | 1-98 | PDB |
| 6S53 | X-ray | 280 A | A/B/G/H | 1-85 | PDB |
| 7BBD | X-ray | 220 A | B | 1-85 | PDB |
| 8A58 | X-ray | 225 A | C/D | 1-85 | PDB |
| AF-P19474-F1 | Predicted | AlphaFoldDB |
437 variants for P19474
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA5831908 rs369699546 |
2 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5831907 rs775371395 |
6 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5831906 rs192836562 |
6 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379204788 rs775371395 |
6 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461288942 CA379204772 |
7 | L>F | No |
ClinGen gnomAD |
|
|
CA5831905 rs750740737 CA5831904 |
9 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216587177 rs756479564 |
9 | M>V | No |
ClinGen Ensembl |
|
|
CA379204711 rs1168811286 |
12 | E>G | No |
ClinGen gnomAD |
|
|
rs747272981 CA5831902 |
13 | E>K | No |
ClinGen ExAC |
|
|
CA379204679 rs1590837998 |
14 | V>G | No |
ClinGen Ensembl |
|
|
rs758865723 CA379204602 |
21 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1031495874 CA216587024 |
21 | D>N | No |
ClinGen TOPMed |
|
|
CA5831897 rs758865723 |
21 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs753153264 CA379204591 |
22 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA5831896 rs753153264 |
22 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1231933884 CA379204594 |
22 | P>S | No |
ClinGen TOPMed |
|
|
CA379204579 rs779542271 |
23 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1508307 CA5831894 rs367660765 |
24 | V>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs367660765 CA5831893 |
24 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379204540 rs1230178924 |
27 | V>A | No |
ClinGen gnomAD |
|
|
rs767066255 CA379204545 |
27 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767066255 CA5831892 |
27 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5831890 rs751244449 |
30 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA379204509 rs751244449 |
30 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379204488 rs1337510494 |
31 | C>F | No |
ClinGen gnomAD |
|
|
rs1327622957 CA379204439 |
37 | Q>R | No |
ClinGen gnomAD |
|
|
CA5831887 rs199774486 |
38 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762711398 CA5831888 |
38 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769612427 CA5831886 |
41 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5831885 rs759524568 |
43 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776518349 CA5831884 |
44 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771068060 CA5831883 |
45 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs747163318 CA5831882 |
46 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1413037981 CA379204380 |
46 | G>V | No |
ClinGen TOPMed |
|
|
CA5831879 rs142674871 CA5831881 |
47 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5831880 rs142674871 |
47 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA216586916 rs906767685 |
48 | G>D | No |
ClinGen TOPMed |
|
|
rs1004183011 CA216586923 |
48 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA379204376 rs1004183011 |
48 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1564810654 CA379204369 |
49 | S>N | No |
ClinGen Ensembl |
|
|
rs187897017 CA5831876 |
50 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs187897017 CA5831877 |
50 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_013749 CA216586909 rs1042302 |
52 | P>A | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 52 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379204347 rs1374506305 |
53 | V>M | No |
ClinGen gnomAD |
|
|
rs751114017 CA5831873 |
55 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA379204332 rs1305414653 |
55 | R>W | No |
ClinGen gnomAD |
|
|
CA379204329 rs1430804405 |
56 | Q>K | No |
ClinGen gnomAD |
|
|
CA5831870 rs200488796 |
57 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5831869 rs201475245 |
57 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1419652464 COSM926952 CA379204281 |
63 | L>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs376066276 CA5831866 |
64 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376066276 CA216586847 COSM428981 |
64 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5831867 rs776665896 |
64 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA379204269 rs1454980281 |
65 | P>L | No |
ClinGen gnomAD |
|
|
CA379204264 rs1246428666 |
66 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 67 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5831864 rs772420632 |
67 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772420632 CA5831863 |
67 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5831862 rs748392449 |
69 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 70 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774529692 CA5831861 |
72 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774529692 CA216586806 |
72 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379204214 rs1282375620 |
74 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1234827948 CA379204206 |
75 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1272795109 CA379204179 |
79 | I>V | No |
ClinGen gnomAD |
|
|
CA379204168 COSM688141 rs1434621501 |
80 | S>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA379204160 rs1328378156 |
81 | Q>L | No |
ClinGen gnomAD |
|
|
rs977339312 CA216586775 |
82 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA216586770 rs938866166 |
83 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 85 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379204134 rs1220194889 |
85 | E>G | No |
ClinGen TOPMed |
|
|
CA379204136 rs1370105695 |
85 | E>K | No |
ClinGen TOPMed |
|
|
CA379204130 rs1359263679 |
86 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756633675 CA5831857 |
86 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA216586751 rs927444132 |
87 | T>A | No |
ClinGen Ensembl |
|
|
CA379204123 rs1415474624 |
87 | T>I | No |
ClinGen gnomAD |
|
|
VAR_061821 CA5831855 rs58403334 |
88 | Q>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA379204113 rs757990805 |
89 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757990805 CA5831854 |
89 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379204107 rs1287538987 |
90 | E>K | No |
ClinGen TOPMed |
|
|
rs1483252342 CA379204099 |
91 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5831852 rs370385142 COSM926950 |
91 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1487013377 CA379204093 |
92 | C>Y | No |
ClinGen gnomAD |
|
|
rs754776451 CA5831851 |
94 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA379204074 rs1441731712 |
95 | H>P | No |
ClinGen gnomAD |
|
|
VAR_013750 CA216586658 rs2975162 |
96 | G>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA379204062 rs1216089333 |
97 | E>* | No |
ClinGen gnomAD |
|
|
CA379204064 rs1216089333 |
97 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs377182147 CA5831850 |
98 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5831849 rs766328253 |
100 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5831848 rs760763049 |
102 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA379204019 rs1314781117 |
103 | C>* | No |
ClinGen gnomAD |
|
|
rs989966146 CA216586613 COSM428980 |
104 | E>D | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1394303416 CA379204016 |
104 | E>K | No |
ClinGen TOPMed |
|
|
CA379203992 rs1359068205 |
107 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 107 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 109 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423967961 CA379203948 |
113 | V>A | No |
ClinGen gnomAD |
|
|
CA5831845 rs762085934 |
113 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA379203925 rs1419431292 |
116 | Q>H | No |
ClinGen gnomAD |
|
|
CA216586586 rs774456097 |
117 | S>C | No |
ClinGen Ensembl |
|
|
rs183163094 CA5831840 |
118 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775781424 CA5831841 |
118 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5831837 rs191468264 |
121 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs191468264 CA379203900 |
121 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs111343385 CA5831836 |
121 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379203899 rs111343385 |
121 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs191468264 CA5831838 |
121 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 122 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778606470 CA5831835 |
122 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs373364363 CA5831834 |
123 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379203886 rs1316238814 |
123 | H>R | No |
ClinGen gnomAD |
|
|
rs370217154 CA5831830 |
124 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5831832 rs370217154 |
124 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1048580436 CA216586524 |
124 | A>V | No |
ClinGen TOPMed |
|
|
rs1379163054 CA379203867 |
126 | V>A | No |
ClinGen gnomAD |
|
|
CA379203863 rs1590837740 |
127 | P>S | No |
ClinGen Ensembl |
|
|
rs1164917569 CA379203831 |
132 | A>T | No |
ClinGen gnomAD |
|
|
CA5831825 rs761961466 |
132 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379203824 rs1156857599 |
133 | Q>* | No |
ClinGen TOPMed |
|
|
CA5831824 rs751644653 |
133 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176517119 CA379203817 |
134 | E>A | No |
ClinGen gnomAD |
|
|
CA5831822 rs367901949 |
134 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs943646800 CA216586473 |
135 | Y>* | No |
ClinGen TOPMed |
|
|
rs376885569 CA5831820 |
136 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5831798 rs761094259 |
137 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 137 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432870859 CA379203779 |
138 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 139 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379203757 rs1488653195 |
141 | V>M | No |
ClinGen gnomAD |
|
|
rs748866982 CA379203749 |
142 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs768080889 CA379203751 |
142 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768080889 COSM428979 CA5831795 |
142 | A>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748866982 CA5831794 |
142 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA216586042 rs905622222 |
145 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA216586034 rs1041424672 |
146 | L>R | No |
ClinGen TOPMed |
|
|
CA5831792 rs200627515 |
147 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5831791 rs745654190 |
149 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA379203693 rs1218799840 |
151 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 154 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5831788 rs751472608 |
155 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA379203652 rs1464996819 |
157 | E>K | No |
ClinGen Ensembl |
|
|
CA379203642 rs1416567779 |
158 | V>L | No |
ClinGen gnomAD |
|
|
rs1341367198 CA379203634 |
159 | E>A | No |
ClinGen gnomAD |
|
|
CA379203632 rs1302088631 |
159 | E>D | No |
ClinGen gnomAD |
|
|
CA5831786 rs752823878 |
160 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752823878 CA5831785 |
160 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564810407 CA379203622 |
161 | A>G | No |
ClinGen Ensembl |
|
|
rs765432246 CA5831784 |
161 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA216585951 rs569615934 |
162 | I>M | No |
ClinGen Ensembl |
|
|
rs1423051003 CA379203597 |
165 | A>E | No |
ClinGen gnomAD |
|
|
rs375865854 CA5831783 |
165 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5831782 rs754138818 |
166 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379203581 rs1426114637 |
167 | W>* | No |
ClinGen gnomAD |
|
|
CA5831781 rs766746377 |
168 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379203575 rs1590837498 |
168 | K>R | No |
ClinGen Ensembl |
|
|
CA216584414 rs760381542 |
176 | S>Y | No |
ClinGen gnomAD |
|
|
rs980255765 CA216584399 |
177 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5831760 rs766661587 |
178 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379203191 rs756408935 |
179 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574966130 CA5831758 |
180 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5831757 rs767901426 |
181 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 182 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564810130 CA379203162 |
182 | F>V | No |
ClinGen Ensembl |
|
|
rs202232848 CA5831755 |
183 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764861100 CA5831754 |
184 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1355845547 CA379203095 |
187 | N>I | No |
ClinGen gnomAD |
|
| TCGA novel | 187 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379203075 rs1226934593 |
189 | L>M | No |
ClinGen TOPMed |
|
|
CA5831751 rs770667290 |
190 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs770667290 CA379203062 |
190 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA5831752 rs776394317 |
190 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA379203051 rs1276351524 |
191 | E>G | No |
ClinGen gnomAD |
|
|
rs1331877094 COSM76812 CA379203042 |
192 | E>Q | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA379203026 rs1403178097 |
193 | E>A | No |
ClinGen gnomAD |
|
|
CA5831749 rs773126563 |
193 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1156816070 CA379203003 |
195 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA379202999 rs1156816070 |
195 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA379202995 rs1419563350 |
196 | Q>K | No |
ClinGen gnomAD |
|
|
rs1406284198 CA379202985 |
197 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA216584294 rs772975404 |
198 | Q>* | No |
ClinGen gnomAD |
|
|
rs77584343 CA216584274 |
199 | E>G | No |
ClinGen Ensembl |
|
|
CA379202963 rs1238014971 |
200 | L>P | No |
ClinGen TOPMed |
|
|
CA379202957 rs1478181847 |
201 | E>G | No |
ClinGen gnomAD |
|
|
rs771600665 CA216584267 |
203 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA379202940 rs1488991136 CA379202941 |
203 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1376708185 CA379202944 |
203 | D>H | No |
ClinGen gnomAD |
|
|
rs1376708185 CA379202945 |
203 | D>N | No |
ClinGen gnomAD |
|
|
rs771600665 CA5831748 |
203 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA5831747 rs748100939 |
205 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5831746 rs200123206 |
206 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5831745 rs755084656 |
207 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487238844 CA379202900 |
207 | Q>L | No |
ClinGen gnomAD |
|
|
CA379202866 rs1388350017 |
210 | I>M | No |
ClinGen TOPMed |
|
|
rs975154785 CA216584240 |
212 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs756422491 CA5831742 |
212 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA379202847 rs1342458934 |
213 | E>* | No |
ClinGen gnomAD |
|
|
rs757789140 CA379202841 |
213 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs757789140 CA5831739 |
213 | E>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA379202813 rs1343930548 |
215 | E>D | No |
ClinGen gnomAD |
|
|
CA5831738 rs752141663 |
218 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752141663 CA379202785 |
218 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5831737 rs764736589 |
219 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs764736589 CA379202778 |
219 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1435288852 CA379202766 |
220 | Q>* | No |
ClinGen TOPMed |
|
|
rs1173814921 CA379202763 |
220 | Q>R | No |
ClinGen gnomAD |
|
|
rs1011185812 CA216584211 |
221 | Q>P | No |
ClinGen gnomAD |
|
|
CA379202736 rs1192273922 |
222 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1192273922 CA379202739 |
222 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs375673915 CA5831734 |
223 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760380325 CA5831733 |
224 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5831730 rs369388803 |
226 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376986186 CA5831729 |
226 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1003555392 CA379202686 |
227 | E>D | No |
ClinGen gnomAD |
|
|
rs1465202344 CA379202682 |
228 | L>F | No |
ClinGen TOPMed |
|
|
rs1010202393 CA216584163 |
229 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA379202663 rs1278976242 |
231 | E>G | No |
ClinGen gnomAD |
|
|
rs2554934 CA216584159 VAR_013751 |
231 | E>K | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs906488509 CA216584149 |
233 | D>E | No |
ClinGen Ensembl |
|
|
COSM926942 rs201531249 CA5831728 |
234 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5831727 rs201531249 |
234 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372452966 CA379202647 |
234 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5831726 rs372452966 |
234 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1449309170 CA379202626 |
237 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA379202608 rs1340277926 |
240 | A>T | No |
ClinGen gnomAD |
|
|
rs185337125 CA5831724 |
243 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749957230 CA5831696 |
246 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs767150820 CA5831695 |
248 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs756903520 CA5831694 |
248 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA379202539 rs1435129852 |
249 | I>T | No |
ClinGen gnomAD |
|
|
CA379202536 rs1363097839 |
250 | V>I | No |
ClinGen gnomAD |
|
|
rs1416721031 CA379202528 |
251 | L>Q | No |
ClinGen gnomAD |
|
|
CA216582717 rs938679474 |
252 | E>K | No |
ClinGen TOPMed |
|
|
rs763897691 CA5831692 |
253 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA216582716 rs763897691 |
253 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA5831648 rs760818203 |
254 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750591685 CA5831647 |
258 | N>Y | No |
ClinGen ExAC |
|
|
rs373852558 CA379202464 |
259 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373852558 CA5831646 |
259 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379202437 rs1443179649 |
263 | D>Y | No |
ClinGen gnomAD |
|
|
CA5831644 rs774725359 |
266 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5831643 rs768929484 |
267 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1204725853 CA379202396 |
269 | L>P | No |
ClinGen gnomAD |
|
|
rs775954054 CA5831641 |
270 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA379202389 rs1479743638 |
270 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5831640 rs770341375 |
271 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs200023997 CA5831639 |
272 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771699573 CA5831637 |
273 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA379202346 rs1240085813 COSM688153 |
277 | G>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5831633 rs753740211 |
278 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1388576736 CA379202319 |
280 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5831630 rs750469188 |
283 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 284 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230796948 CA379202274 |
284 | T>K | No |
ClinGen TOPMed |
|
|
rs751699840 CA5831627 |
285 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384085767 CA379202254 |
286 | A>P | No |
ClinGen TOPMed |
|
|
rs911613115 CA216581334 |
289 | I>V | No |
ClinGen TOPMed |
|
|
rs1590835542 CA379202162 |
290 | T>P | No |
ClinGen Ensembl |
|
|
rs1167287041 CA379202146 |
292 | D>H | No |
ClinGen gnomAD |
|
|
rs763454580 CA216581322 |
296 | A>T | No |
ClinGen gnomAD |
|
|
rs150401161 CA379202089 |
297 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150401161 CA5831597 |
297 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1242753916 CA379202086 |
297 | N>S | No |
ClinGen gnomAD |
|
|
CA5831596 rs199739277 |
298 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA379202074 rs199739277 |
298 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379202073 rs199739277 |
298 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201929889 CA379202079 |
298 | P>T | No |
ClinGen gnomAD |
|
|
CA379202059 rs1337998218 |
299 | W>* | No |
ClinGen gnomAD |
|
|
CA379202064 rs1214527978 |
299 | W>* | No |
ClinGen gnomAD |
|
|
CA379202057 rs1337998218 |
299 | W>C | No |
ClinGen gnomAD |
|
|
rs1286388652 CA379202034 |
301 | I>M | No |
ClinGen gnomAD |
|
|
rs1453835742 CA379202030 |
302 | L>V | No |
ClinGen gnomAD |
|
|
rs1334301453 CA379202015 |
304 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs757286526 CA5831593 |
306 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370592392 CA5831594 |
306 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA379201989 rs1327567369 |
308 | Q>* | No |
ClinGen gnomAD |
|
|
CA216581274 rs534350158 |
308 | Q>H | No |
ClinGen TOPMed |
|
|
CA379201987 rs1327567369 |
308 | Q>K | No |
ClinGen gnomAD |
|
|
rs777844453 CA379201970 |
310 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA5831590 rs758567750 |
311 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216581263 rs1020686539 |
313 | D>N | No |
ClinGen Ensembl |
|
|
CA216581252 rs946895111 |
316 | Q>K | No |
ClinGen TOPMed |
|
|
CA216581247 rs774727142 |
317 | S>C | No |
ClinGen Ensembl |
|
|
rs754288887 CA5831585 |
318 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs755279386 CA5831586 |
318 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs374402312 CA379201917 |
319 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374402312 CA5831584 |
319 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5831582 rs773682651 |
321 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216581227 rs565752756 |
323 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs774921559 CA216581224 |
324 | R>G | No |
ClinGen Ensembl |
|
|
rs762590248 CA5831580 |
328 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA5831579 rs768958925 |
329 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA379201803 rs1268680746 |
330 | M>I | No |
ClinGen gnomAD |
|
|
rs1439387038 CA379201807 |
330 | M>T | No |
ClinGen gnomAD |
|
|
rs1297159482 CA379201813 |
330 | M>V | No |
ClinGen gnomAD |
|
|
CA5831578 rs769627311 |
331 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1001997531 CA216581218 |
332 | L>P | No |
ClinGen Ensembl |
|
|
CA379201781 rs1460905267 |
333 | G>R | No |
ClinGen TOPMed |
|
|
rs1423870746 CA379201764 |
334 | A>D | No |
ClinGen gnomAD |
|
|
rs1423870746 CA379201767 |
334 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 335 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363515280 CA379201753 |
335 | Q>H | No |
ClinGen gnomAD |
|
|
CA216581217 rs1054808272 |
336 | H>N | No |
ClinGen TOPMed |
|
|
rs1238134046 CA379201743 |
336 | H>R | No |
ClinGen gnomAD |
|
|
CA5831576 rs776489665 |
338 | H>P | No |
ClinGen ExAC |
|
|
rs905032994 CA216581188 |
339 | S>C | No |
ClinGen gnomAD |
|
|
CA379201703 rs1429697436 |
340 | G>R | No |
ClinGen TOPMed |
|
|
CA5831575 rs201583036 |
341 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5831574 rs746990888 |
341 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468681183 CA379201658 |
343 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1178103138 CA379201646 |
344 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 346 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406424840 CA379201609 |
347 | D>V | No |
ClinGen TOPMed |
|
|
rs772111148 CA5831572 |
348 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1314883405 CA379201588 |
349 | T>I | No |
ClinGen gnomAD |
|
|
rs202233326 CA5831570 |
352 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379201546 rs1290104044 |
353 | A>D | No |
ClinGen gnomAD |
|
|
CA379201531 rs1219230609 |
354 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 354 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 360 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1036449015 CA216581138 |
360 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA379201464 rs1305857648 |
361 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs755296975 CA5831569 |
361 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA379201449 rs1369127259 |
362 | S>A | No |
ClinGen gnomAD |
|
|
rs780484565 CA5831567 |
363 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA379201439 rs1404295259 |
363 | V>M | No |
ClinGen gnomAD |
|
|
CA5831566 rs373117861 |
364 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201211100 CA5831565 |
364 | R>H | Variant assessed as Somatic; 0.0004195 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs201211100 CA379201426 |
364 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1158686689 CA379201389 |
367 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA379201397 rs1344330019 |
367 | G>R | No |
ClinGen gnomAD |
|
|
CA379201387 rs1431593012 |
368 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5831561 rs752319529 |
368 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA379201384 rs1431593012 |
368 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA379201350 rs1480429380 |
371 | L>V | No |
ClinGen gnomAD |
|
|
rs1267374612 CA379201335 |
372 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1260452501 CA379201306 |
375 | S>G | No |
ClinGen gnomAD |
|
|
CA5831559 rs759240021 |
375 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs760428568 CA5831557 |
381 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs760428568 CA5831556 |
381 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA5831554 rs772058256 |
390 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531361182 CA5831553 |
390 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA216581044 rs768706533 |
392 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768706533 CA5831551 |
392 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749552998 CA5831550 |
393 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs749552998 CA379201163 |
393 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA379201151 rs1413555674 |
395 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5831548 rs756475953 |
397 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA379201136 rs538797691 |
397 | P>H | No |
ClinGen gnomAD |
|
|
CA216581007 rs538797691 |
397 | P>L | No |
ClinGen gnomAD |
|
|
CA379201133 rs1241357953 |
398 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 399 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379201127 rs1590835294 |
399 | H>Y | No |
ClinGen Ensembl |
|
|
rs750871852 CA5831547 |
401 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA5831546 rs781763137 |
402 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA379201107 rs1346475332 |
402 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 404 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759072456 CA5831541 |
405 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5831540 rs753499449 |
406 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1228117562 CA379201064 |
409 | I>V | No |
ClinGen gnomAD |
|
|
rs765999535 CA5831539 |
410 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs773061696 CA5831537 |
412 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs773061696 CA379201043 |
412 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5831538 rs773061696 |
412 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA216580936 rs979060453 |
413 | Y>* | No |
ClinGen Ensembl |
|
|
CA379201038 rs1247893863 |
413 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA379201039 rs1247893863 |
413 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1590835266 CA379201037 |
413 | Y>S | No |
ClinGen Ensembl |
|
|
CA379201033 rs1590835258 |
414 | E>K | No |
ClinGen Ensembl |
|
|
rs1283764481 CA379201025 |
415 | A>T | No |
ClinGen TOPMed |
|
|
rs767378115 CA379201016 |
416 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs767378115 CA5831536 |
416 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA379201012 rs1345048161 |
417 | M>T | No |
ClinGen TOPMed |
|
|
rs761757344 CA5831535 |
417 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA379201001 rs1590835236 |
418 | V>G | No |
ClinGen Ensembl |
|
|
rs1564809238 CA379200991 |
420 | F>Y | No |
ClinGen Ensembl |
|
|
rs768746875 CA379200979 |
421 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA379200971 rs1168875225 |
422 | N>K | No |
ClinGen gnomAD |
|
|
CA379200974 rs1372991020 |
422 | N>S | No |
ClinGen gnomAD |
|
|
rs1446840002 CA379200966 |
423 | I>T | No |
ClinGen gnomAD |
|
|
rs1182634933 CA379200960 |
424 | T>N | No |
ClinGen gnomAD |
|
|
rs1248617484 CA379200945 |
426 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs559436133 CA216580921 |
427 | G>C | No |
ClinGen Ensembl |
|
|
CA5831529 rs769975106 |
428 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379200929 rs1491001877 |
429 | L>F | No |
ClinGen TOPMed |
|
|
CA379200925 rs1223595216 |
430 | I>F | No |
ClinGen TOPMed |
|
|
CA5831528 rs746167796 |
434 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1314057883 CA379200883 COSM3809226 |
436 | C>S | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1564809212 CA379200859 |
438 | F>L | No |
ClinGen Ensembl |
|
|
rs369693512 CA5831525 |
439 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778184981 CA5831524 |
439 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs369693512 CA5831526 |
439 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 440 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs527377315 CA5831523 |
440 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 442 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755771107 CA5831520 |
443 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3397681 CA5831521 rs777735629 |
443 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5831519 rs750164091 |
444 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA379200805 rs1442460003 |
444 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA379200791 rs1312445469 |
445 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs199881122 CA5831517 |
446 | F>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199881122 CA5831518 |
446 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371209714 CA216580787 |
447 | S>I | No |
ClinGen ESP |
|
|
CA5831516 rs774319405 |
448 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490483239 CA379200750 |
449 | G>S | No |
ClinGen gnomAD |
|
|
rs763082253 CA5831514 |
451 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs775435709 CA379200704 |
452 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs770081380 CA5831512 |
453 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs77819979 CA216580735 |
454 | G>E | No |
ClinGen Ensembl |
|
|
rs999950900 COSM3666920 CA216580741 |
454 | G>R | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA5831511 rs147945907 |
455 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5831510 rs777095654 |
456 | N>H | No |
ClinGen ExAC |
|
|
CA5831509 rs771391386 |
456 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 456 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590835143 CA379200669 |
456 | N>T | No |
ClinGen Ensembl |
|
|
CA379200661 rs1590835137 |
457 | T>P | No |
ClinGen Ensembl |
|
|
rs747427609 CA379200646 |
458 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA5831507 rs747427609 |
458 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA379200635 rs1450208691 |
459 | P>L | No |
ClinGen TOPMed |
|
|
CA5831506 rs778330914 |
459 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs577581987 CA379200632 |
460 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379200619 rs1457712535 |
461 | T>I | No |
ClinGen gnomAD |
|
|
CA379200627 rs748768606 |
461 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs748768606 CA5831504 |
461 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs375099862 CA5831503 |
465 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755718025 CA5831502 |
466 | N>S | No |
ClinGen ExAC |
|
|
CA5831501 rs750110927 |
468 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5831500 rs767202191 |
469 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA5831499 rs556551431 |
470 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379200524 rs549756195 |
471 | G>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs549756195 CA5831497 |
471 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379200516 rs1262121456 |
472 | S>P | No |
ClinGen gnomAD |
|
|
rs752772216 CA5831495 |
474 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA379200494 rs1205991720 |
474 | D>G | No |
ClinGen gnomAD |
|
|
rs765439089 CA5831494 |
475 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs759731100 CA5831493 |
476 | Y>L | No |
ClinGen ExAC gnomAD |
No associated diseases with P19474
17 regional properties for P19474
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | B-box-type zinc finger | 87 - 128 | IPR000315 |
| domain | Zinc finger, RING-type | 16 - 55 | IPR001841 |
| domain | B30.2/SPRY domain | 268 - 465 | IPR001870 |
| domain | U-box domain | 13 - 83 | IPR003613 |
| domain | SPRY domain | 339 - 466 | IPR003877 |
| domain | Butyrophylin-like, SPRY domain | 285 - 302 | IPR003879-1 |
| domain | Butyrophylin-like, SPRY domain | 302 - 319 | IPR003879-2 |
| domain | Butyrophylin-like, SPRY domain | 324 - 348 | IPR003879-3 |
| domain | Butyrophylin-like, SPRY domain | 354 - 367 | IPR003879-4 |
| domain | Butyrophylin-like, SPRY domain | 398 - 422 | IPR003879-5 |
| domain | Butyrophylin-like, SPRY domain | 430 - 448 | IPR003879-6 |
| domain | SPRY-associated | 286 - 338 | IPR006574 |
| conserved_site | Zinc finger, RING-type, conserved site | 31 - 40 | IPR017907 |
| domain | Zinc finger, C3HC4 RING-type | 16 - 54 | IPR018957 |
| domain | Zinc finger, B-box, chordata | 100 - 117 | IPR020457-1 |
| domain | Zinc finger, B-box, chordata | 119 - 133 | IPR020457-2 |
| domain | TRIM21, PRY/SPRY domain | 287 - 465 | IPR035831 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.27 | Aminoacyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| autophagosome | A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the lytic vacuole/lysosome for degradation as part of macroautophagy. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| P-body | A focus in the cytoplasm where mRNAs may become inactivated by decapping or some other mechanism. Protein and RNA localized to these foci are involved in mRNA degradation, nonsense-mediated mRNA decay (NMD), translational repression, and RNA-mediated gene silencing. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| identical protein binding | Binding to an identical protein or proteins. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases 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. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators 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. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues. |
| ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
| zinc ion binding | Binding to a zinc ion (Zn). |
26 GO annotations of biological process
| Name | Definition |
|---|---|
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| cellular response to chemical stress | 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 chemical stimulus indicating the organism is under stress. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| negative regulation of innate immune response | Any process that stops, prevents, or reduces the frequency, rate or extent of the innate immune response. |
| negative regulation of NF-kappaB transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB. |
| negative regulation of protein deubiquitination | Any process that decreases the frequency, rate or extent of protein deubiquitination. Protein deubiquitination is the removal of one or more ubiquitin groups from a protein. |
| negative regulation of viral transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of viral transcription. |
| positive regulation of autophagy | Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| positive regulation of cell cycle | Any process that activates or increases the rate or extent of progression through the cell cycle. |
| positive regulation of DNA-binding transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
| positive regulation of protein binding | Any process that activates or increases the frequency, rate or extent of protein binding. |
| positive regulation of viral entry into host cell | Any process that activates or increases the frequency, rate or extent of the introduction of viral entry into the host cell. |
| protein autoubiquitination | The ubiquitination by a protein of one or more of its own amino acid residues, or residues on an identical protein. Ubiquitination occurs on the lysine residue by formation of an isopeptide crosslink. |
| protein destabilization | Any process that decreases the stability of a protein, making it more vulnerable to degradative processes or aggregation. |
| protein K63-linked ubiquitination | A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is added to a protein. K63-linked ubiquitination does not target the substrate protein for degradation, but is involved in several pathways, notably as a signal to promote error-free DNA postreplication repair. |
| protein monoubiquitination | Addition of a single ubiquitin group to a protein. |
| protein polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| regulation of protein localization | Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. |
| regulation of type I interferon production | Any process that modulates the frequency, rate, or extent of interferon type I production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families. |
| regulation of viral entry into host cell | Any process that modulates the frequency, rate or extent of the viral entry into the host cell. |
| response to interferon-gamma | 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 an interferon-gamma stimulus. Interferon-gamma is also known as type II interferon. |
| suppression of viral release by host | A process in which a host organism stops, prevents or reduces the frequency, rate or extent of the release of a virus with which it is infected, from its cells. |
49 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5E9G4 | TRIM10 | Tripartite motif-containing protein 10 | Bos taurus (Bovine) | PR |
| Q2T9Z0 | TRIM17 | E3 ubiquitin-protein ligase TRIM17 | Bos taurus (Bovine) | PR |
| E1BJS7 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Bos taurus (Bovine) | PR |
| Q7YRV4 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Bos taurus (Bovine) | PR |
| Q1PRL4 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Gallus gallus (Chicken) | PR |
| Q7YR32 | TRIM10 | Tripartite motif-containing protein 10 | Pan troglodytes (Chimpanzee) | PR |
| Q9BTV5 | FSD1 | Fibronectin type III and SPRY domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q9UJV3 | MID2 | Probable E3 ubiquitin-protein ligase MID2 | Homo sapiens (Human) | PR |
| P29590 | PML | Protein PML | Homo sapiens (Human) | PR |
| Q9NQ86 | TRIM36 | E3 ubiquitin-protein ligase TRIM36 | Homo sapiens (Human) | PR |
| Q86UV6 | TRIM74 | Tripartite motif-containing protein 74 | Homo sapiens (Human) | PR |
| Q2Q1W2 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Homo sapiens (Human) | PR |
| Q9BXM9 | FSD1L | FSD1-like protein | Homo sapiens (Human) | PR |
| Q9H2S5 | RNF39 | RING finger protein 39 | Homo sapiens (Human) | PR |
| Q86UV7 | TRIM73 | Tripartite motif-containing protein 73 | Homo sapiens (Human) | PR |
| Q86XT4 | TRIM50 | E3 ubiquitin-protein ligase TRIM50 | Homo sapiens (Human) | PR |
| Q6ZMU5 | TRIM72 | Tripartite motif-containing protein 72 | Homo sapiens (Human) | PR |
| Q9UPQ4 | TRIM35 | E3 ubiquitin-protein ligase TRIM35 | Homo sapiens (Human) | PR |
| Q9BZY9 | TRIM31 | E3 ubiquitin-protein ligase TRIM31 | Homo sapiens (Human) | PR |
| Q9C029 | TRIM7 | E3 ubiquitin-protein ligase TRIM7 | Homo sapiens (Human) | PR |
| O15553 | MEFV | Pyrin | Homo sapiens (Human) | SS |
| A6NCK2 | TRIM43B | Tripartite motif-containing protein 43B | Homo sapiens (Human) | PR |
| Q8N9V2 | TRIML1 | Probable E3 ubiquitin-protein ligase TRIML1 | Homo sapiens (Human) | PR |
| Q14142 | TRIM14 | Tripartite motif-containing protein 14 | Homo sapiens (Human) | PR |
| A6NK02 | TRIM75 | Tripartite motif-containing protein 75 | Homo sapiens (Human) | PR |
| Q5EBN2 | TRIM61 | Putative tripartite motif-containing protein 61 | Homo sapiens (Human) | PR |
| Q9WUH5 | Trim10 | Tripartite motif-containing protein 10 | Mus musculus (Mouse) | PR |
| Q8BZT2 | Sh3rf2 | E3 ubiquitin-protein ligase SH3RF2 | Mus musculus (Mouse) | PR |
| Q7TPM3 | Trim17 | E3 ubiquitin-protein ligase TRIM17 | Mus musculus (Mouse) | PR |
| Q1XH17 | Trim72 | Tripartite motif-containing protein 72 | Mus musculus (Mouse) | PR |
| Q60953 | Pml | Protein PML | Mus musculus (Mouse) | PR |
| Q9JJ26 | Mefv | Pyrin | Mus musculus (Mouse) | SS |
| Q99PQ1 | Trim12a | Tripartite motif-containing protein 12A | Mus musculus (Mouse) | PR |
| Q61510 | Trim25 | E3 ubiquitin/ISG15 ligase TRIM25 | Mus musculus (Mouse) | PR |
| Q810I2 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Mus musculus (Mouse) | PR |
| Q1PSW8 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Mus musculus (Mouse) | PR |
| Q3TL54 | Trim43a | Tripartite motif-containing protein 43A | Mus musculus (Mouse) | PR |
| P86449 | Trim43c | Tripartite motif-containing protein 43C | Mus musculus (Mouse) | PR |
| O77666 | TRIM26 | Tripartite motif-containing protein 26 | Sus scrofa (Pig) | PR |
| O19085 | TRIM10 | Tripartite motif-containing protein 10 | Sus scrofa (Pig) | PR |
| Q865W2 | TRIM50 | E3 ubiquitin-protein ligase TRIM50 | Sus scrofa (Pig) | PR |
| Q920M2 | Rnf39 | RING finger protein 39 | Rattus norvegicus (Rat) | PR |
| Q9JJ25 | Mefv | Pyrin | Rattus norvegicus (Rat) | SS |
| A0JPQ4 | Trim72 | Tripartite motif-containing protein 72 | Rattus norvegicus (Rat) | PR |
| Q810I1 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Rattus norvegicus (Rat) | PR |
| D3ZVM4 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Rattus norvegicus (Rat) | PR |
| F6QEU4 | trim71 | E3 ubiquitin-protein ligase TRIM71 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q640S6 | trim72 | Tripartite motif-containing protein 72 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| E7FAM5 | trim71 | E3 ubiquitin-protein ligase TRIM71 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASAARLTMM | WEEVTCPICL | DPFVEPVSIE | CGHSFCQECI | SQVGKGGGSV | CPVCRQRFLL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KNLRPNRQLA | NMVNNLKEIS | QEAREGTQGE | RCAVHGERLH | LFCEKDGKAL | CWVCAQSRKH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RDHAMVPLEE | AAQEYQEKLQ | VALGELRRKQ | ELAEKLEVEI | AIKRADWKKT | VETQKSRIHA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EFVQQKNFLV | EEEQRQLQEL | EKDEREQLRI | LGEKEAKLAQ | QSQALQELIS | ELDRRCHSSA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LELLQEVIIV | LERSESWNLK | DLDITSPELR | SVCHVPGLKK | MLRTCAVHIT | LDPDTANPWL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ILSEDRRQVR | LGDTQQSIPG | NEERFDSYPM | VLGAQHFHSG | KHYWEVDVTG | KEAWDLGVCR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DSVRRKGHFL | LSSKSGFWTI | WLWNKQKYEA | GTYPQTPLHL | QVPPCQVGIF | LDYEAGMVSF |
| 430 | 440 | 450 | 460 | 470 | |
| YNITDHGSLI | YSFSECAFTG | PLRPFFSPGF | NDGGKNTAPL | TLCPLNIGSQ | GSTDY |