Q8N9V2
PR
Gene name |
TRIML1 (RNF209) |
Protein name |
Probable E3 ubiquitin-protein ligase TRIML1 |
Names |
RING finger protein 209, RING-type E3 ubiquitin transferase TRIML1, Tripartite motif family-like protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:339976 |
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
1 structures for Q8N9V2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N9V2-F1 | Predicted | AlphaFoldDB |
468 variants for Q8N9V2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA174884 rs193920871 RCV000149375 COSM1179915 |
396 | K>N | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs772280374 CA3168402 |
3 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA358978044 rs1485466944 |
4 | A>E | No |
ClinGen TOPMed |
|
| TCGA novel | 4 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358978050 rs1309915956 |
5 | D>Y | No |
ClinGen gnomAD |
|
|
CA112189503 rs926977510 |
12 | E>G | No |
ClinGen Ensembl |
|
|
CA358978142 rs1218028508 |
14 | L>F | No |
ClinGen TOPMed |
|
|
rs1287575540 CA358978178 |
16 | C>Y | No |
ClinGen gnomAD |
|
|
CA3168404 rs761110707 |
17 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs769029038 CA3168405 |
17 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3168406 rs180844753 |
19 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761506324 CA3168407 |
20 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3168408 rs764928093 |
21 | D>E | No |
ClinGen ExAC gnomAD |
|
| VAR_035963 | 21 | D>H | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 24 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3168409 rs749932522 |
25 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1326116724 CA358978496 |
27 | V>L | No |
ClinGen TOPMed |
|
|
rs1346894199 CA358978530 |
28 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3168411 rs765895129 |
29 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3168410 rs762385224 |
29 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3168413 rs754912472 |
30 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3168412 rs751472138 |
30 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA112189530 COSM225204 rs867705505 |
30 | E>K | Variant assessed as Somatic; 0.0 impact. NS endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3168414 rs62618670 |
31 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 31 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3168415 rs752489413 |
32 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1306939820 CA358978652 |
33 | H>P | No |
ClinGen gnomAD |
|
|
rs757493160 CA3168416 |
33 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA112189560 rs201529877 |
34 | S>C | No |
ClinGen Ensembl |
|
|
rs1225436097 CA358978689 CA358978686 |
34 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs1052874683 CA112189567 |
34 | S>T | No |
ClinGen TOPMed |
|
|
rs1388679231 CA358978702 |
35 | F>Y | No |
ClinGen TOPMed |
|
|
CA3168417 rs779208107 |
36 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1560969102 CA358978755 |
36 | C>W | No |
ClinGen Ensembl |
|
|
rs1487330612 CA358978842 |
40 | L>H | No |
ClinGen gnomAD |
|
|
rs1335701310 CA358978879 |
41 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs530062293 CA3168421 |
43 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 45 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3168422 rs780316032 |
45 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs893092467 CA112189608 |
47 | H>D | No |
ClinGen TOPMed |
|
|
rs769092925 CA3168424 |
47 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA112189616 rs1004797667 |
49 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
COSM1540187 rs200213542 CA3168427 |
50 | P>A | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA358979141 rs1432902836 |
50 | P>R | No |
ClinGen gnomAD |
|
|
rs200213542 CA3168426 |
50 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200213542 CA358979138 |
50 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1396496885 CA358979172 |
52 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3168428 rs372227189 |
52 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3168429 rs762623663 |
53 | C>G | No |
ClinGen ExAC |
|
|
rs1560969184 CA358979220 |
56 | C>F | No |
ClinGen Ensembl |
|
|
rs765843433 CA3168430 |
56 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA358979217 rs1560969184 |
56 | C>Y | No |
ClinGen Ensembl |
|
|
rs1167383934 CA358979232 COSM234319 |
57 | W>* | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs540211625 CA3168431 |
57 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3168432 rs759499967 |
58 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560969213 CA358979267 |
59 | T>I | No |
ClinGen Ensembl |
|
|
rs755912290 CA3168435 |
61 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350315806 CA358979299 |
62 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3168436 COSM1054395 rs753100096 |
63 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs753100096 CA358979306 |
63 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA112189710 rs886490647 |
64 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA112189721 rs867657040 |
66 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 66 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3168438 rs758737063 |
67 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA3168442 rs184902814 |
70 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1471722 CA3168443 rs112281664 |
70 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA112189757 rs112281664 |
70 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3168441 rs184902814 |
70 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3168444 rs770102080 |
71 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs773605789 CA3168445 |
72 | G>A | No |
ClinGen ExAC gnomAD |
|
|
COSM230050 CA358979409 rs773605789 |
72 | G>E | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1461318247 CA358979404 |
72 | G>R | No |
ClinGen TOPMed |
|
|
CA112189774 rs955863001 |
73 | R>K | No |
ClinGen Ensembl |
|
|
rs748916425 CA3168446 CA358979420 |
73 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA3168447 rs770627440 |
75 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358979437 rs770627440 |
75 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM209201 rs756927618 CA3168449 |
78 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3168450 rs200256522 |
78 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760728490 CA3168452 |
80 | Q>E | No |
ClinGen ExAC TOPMed |
|
|
CA3168453 rs567599035 |
81 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3168457 rs369748946 |
82 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3168456 rs369748946 |
82 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758681494 COSM252890 CA3168455 |
82 | R>W | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs754956671 CA3168458 |
83 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA358979521 rs781361166 |
84 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3168459 rs781361166 |
84 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358979532 rs1469156294 |
85 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1579203187 CA358979560 |
87 | Q>H | No |
ClinGen Ensembl |
|
|
rs372585911 CA3168460 |
87 | Q>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372585911 CA358979556 |
87 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA358979574 CA3168462 rs536583213 |
88 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs980069451 CA112189862 |
88 | S>T | No |
ClinGen TOPMed |
|
|
rs553268136 CA3168464 |
89 | E>K | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1474171062 CA358979590 |
90 | D>Y | No |
ClinGen gnomAD |
|
|
rs745555450 CA358979613 |
91 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358979603 rs77409624 |
91 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3168466 rs77409624 |
91 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1370909865 CA358979624 |
92 | Q>H | No |
ClinGen TOPMed |
|
|
rs914391345 CA112189916 |
93 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA358979635 rs914391345 |
93 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs771445612 CA3168468 |
94 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs141022727 CA3168470 |
96 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3168472 rs776563987 |
98 | M>I | No |
ClinGen ExAC |
|
|
CA3168471 rs768776384 |
98 | M>R | No |
ClinGen ExAC |
|
|
CA358979709 rs1378469715 |
99 | P>L | No |
ClinGen gnomAD |
|
|
rs111308948 CA3168474 |
100 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358979720 rs1189971522 |
100 | T>I | No |
ClinGen gnomAD |
|
|
CA3168475 rs751685612 |
101 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767471504 CA3168477 |
102 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3168476 rs759840720 |
102 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs752831773 CA3168478 |
104 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3168479 COSM3674155 rs377254358 |
104 | A>V | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM1578769 CA3168482 rs142394531 |
107 | D>N | meninges [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs779363974 CA3168483 |
108 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3168485 rs140603000 |
109 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140603000 CA358979800 |
109 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3168486 rs779420713 |
110 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
COSM586802 CA358979829 rs1265460869 |
111 | G>C | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3168487 rs746585173 |
112 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401098092 CA358979869 |
113 | S>N | No |
ClinGen gnomAD |
|
|
rs372670242 CA358979890 |
114 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372670242 CA3168490 |
114 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3168489 rs776654046 |
114 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358979893 rs372670242 |
114 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3168492 rs773106430 |
116 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358979942 rs1278121231 |
118 | Q>* | No |
ClinGen gnomAD |
|
|
rs1278121231 CA358979939 |
118 | Q>K | No |
ClinGen gnomAD |
|
|
rs759663756 CA3168493 |
119 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs767847324 CA358979971 |
119 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3168494 COSM165150 rs767847324 |
119 | S>N | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 119 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760686478 CA3168496 |
120 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3168495 rs752917428 |
120 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3168497 rs764178121 |
121 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs891869306 COSM1429089 CA112190115 |
121 | G>D | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs764178121 CA3168498 |
121 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257657175 CA358980007 |
122 | A>V | No |
ClinGen gnomAD |
|
|
rs150484432 CA3168499 |
125 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3168500 rs369262775 |
126 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1470352721 CA358980092 |
128 | S>P | No |
ClinGen gnomAD |
|
|
rs576716594 CA3168501 |
129 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757986004 CA3168503 |
129 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3168502 rs757986004 |
129 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138508820 CA3168504 |
129 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358980124 rs1376192647 |
130 | E>K | No |
ClinGen gnomAD |
|
|
CA3168506 rs780882220 |
131 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
VAR_052145 rs13131525 CA3168507 |
132 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA358980188 rs1345259969 |
133 | E>* | No |
ClinGen gnomAD |
|
|
rs531465298 CA3168508 |
134 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1280628767 CA358980228 |
135 | H>R | No |
ClinGen gnomAD |
|
|
rs1228581843 COSM341952 CA358980224 |
135 | H>Y | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs772877453 CA3168509 |
136 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA358980237 rs1193579828 |
136 | R>K | No |
ClinGen gnomAD |
|
|
CA3168535 rs761886564 |
137 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA358980937 rs1471832065 |
139 | L>F | No |
ClinGen TOPMed |
|
|
rs1345366461 CA358980942 |
139 | L>P | No |
ClinGen Ensembl |
|
|
rs1471832065 CA358980941 |
139 | L>V | No |
ClinGen TOPMed |
|
|
CA112191011 rs556207095 |
141 | E>D | No |
ClinGen 1000Genomes |
|
|
CA358980957 rs1560970058 |
141 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3168536 rs765250470 |
142 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA358980971 rs1297067506 |
143 | L>V | No |
ClinGen gnomAD |
|
|
rs763404758 CA3168538 |
144 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs773723882 CA3168537 |
144 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs766822406 CA3168539 COSM1540185 |
147 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3168540 rs752025162 |
147 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA112191068 rs946951763 |
148 | V>I | No |
ClinGen TOPMed |
|
|
CA112191080 rs1043054135 |
150 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 150 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767208782 CA3168542 |
152 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA358981055 rs1207518664 |
152 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 153 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358981079 rs1264166456 |
155 | A>D | No |
ClinGen gnomAD |
|
|
CA358981097 rs1447588794 |
158 | T>I | No |
ClinGen gnomAD |
|
|
rs755601791 CA358981102 |
159 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA3168544 rs755601791 |
159 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1229002395 CA358981143 |
165 | K>Q | No |
ClinGen TOPMed |
|
|
CA358981154 rs1363633629 |
166 | L>Q | No |
ClinGen gnomAD |
|
|
rs1169207641 CA358981615 |
173 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3168589 rs777901628 |
173 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs749310662 CA3168590 |
176 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3168593 rs200256223 |
177 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3168592 COSM1540184 rs771144257 |
177 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs200869318 CA3168595 |
179 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3168594 rs367831548 |
179 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3168596 rs775765133 |
182 | Y>H | No |
ClinGen ExAC |
|
| TCGA novel | 184 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358981719 rs1341992701 |
185 | M>T | No |
ClinGen TOPMed |
|
|
CA112193292 rs909413194 |
186 | H>P | No |
ClinGen gnomAD |
|
|
CA358981745 rs763722790 |
188 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244764363 CA358981738 |
188 | F>L | No |
ClinGen TOPMed |
|
|
rs370647779 CA112193315 |
192 | E>Q | No |
ClinGen ESP |
|
|
rs866587782 CA112193319 |
193 | E>K | No |
ClinGen Ensembl |
|
|
rs753494682 CA3168600 |
194 | Q>E | No |
ClinGen ExAC |
|
|
rs753494682 CA112193327 |
194 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs761256632 CA3168601 |
194 | Q>R | No |
ClinGen ExAC |
|
|
rs1468268886 CA358981822 COSM1230427 |
200 | L>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1468268886 CA358981820 |
200 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs147049670 CA3168603 |
201 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758375093 CA3168604 |
202 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA3168605 rs766177023 |
203 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA358981841 rs1478190742 |
203 | E>G | No |
ClinGen gnomAD |
|
|
rs1416835599 CA358981867 |
206 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs754803429 CA3168607 |
208 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358981877 rs1171250937 |
208 | M>V | No |
ClinGen gnomAD |
|
|
CA3168608 rs777795947 |
209 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA3168611 rs757371596 |
211 | L>P | No |
ClinGen ExAC |
|
|
rs1437503166 CA358981902 |
212 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs957870898 CA112193398 |
212 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 212 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779173333 CA3168612 |
213 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3168613 rs746354248 |
214 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3168615 rs775921618 |
216 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs747271668 CA3168616 |
217 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA358981947 rs1214569267 |
218 | L>P | No |
ClinGen gnomAD |
|
|
CA358981963 rs1240032686 |
221 | Q>* | No |
ClinGen gnomAD |
|
|
rs761489448 CA3168619 |
221 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1486522460 CA358981966 |
221 | Q>R | No |
ClinGen gnomAD |
|
|
rs764698937 CA3168620 |
223 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 224 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358982006 rs1414318408 |
227 | K>R | No |
ClinGen gnomAD |
|
|
CA358982015 rs1317820118 |
228 | M>I | No |
ClinGen gnomAD |
|
|
CA3168623 rs187357829 |
228 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3168622 rs187357829 |
228 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs137925264 CA3168624 |
229 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3168626 rs138401785 |
230 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA112193505 rs1052242013 |
231 | Q>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 231 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358982029 rs1052242013 |
231 | Q>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 232 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358982047 rs1413526869 |
233 | E>G | No |
ClinGen gnomAD |
|
|
rs113311676 CA112193511 |
234 | S>Y | No |
ClinGen Ensembl |
|
|
CA3168628 rs757601163 |
235 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 236 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358982066 rs1223581791 |
236 | S>T | No |
ClinGen gnomAD |
|
|
CA358982070 rs1356521723 |
237 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 237 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779122084 CA3168629 |
238 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA358982077 rs1278409538 |
238 | S>R | No |
ClinGen TOPMed |
|
|
rs779122084 CA358982080 |
238 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368183736 CA3168631 COSM1054402 |
239 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs368183736 CA112193523 |
239 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358982091 rs1439900157 |
240 | A>D | No |
ClinGen TOPMed |
|
|
COSM264199 CA3168635 rs112173910 |
242 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA358982128 rs1469386480 |
245 | E>D | Variant assessed as Somatic; 9.243e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA358982141 rs1402846535 |
246 | E>* | No |
ClinGen gnomAD |
|
|
CA358982143 rs1421773649 |
246 | E>A | No |
ClinGen gnomAD |
|
|
rs1448021780 CA358982150 |
247 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs899742705 CA112194778 |
248 | R>G | No |
ClinGen TOPMed |
|
|
CA3168656 rs145957337 |
249 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358982166 rs1234777141 |
250 | A>P | No |
ClinGen gnomAD |
|
|
rs908411279 CA112194795 |
250 | A>V | No |
ClinGen Ensembl |
|
|
CA358982173 rs1165084785 |
251 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 251 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770154978 CA3168657 |
252 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358982186 rs1378051472 |
253 | R>M | No |
ClinGen TOPMed |
|
|
CA358982197 rs1206563992 COSM733770 |
253 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3168685 rs763077190 |
254 | S>G | No |
ClinGen ExAC |
|
|
rs200129069 CA3168686 |
254 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA3168687 rs267600120 |
255 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358982206 rs267600120 |
255 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483752244 CA358982221 |
257 | L>F | No |
ClinGen TOPMed |
|
|
rs1266251045 CA358982243 |
260 | Q>P | No |
ClinGen gnomAD |
|
|
rs767613063 CA3168689 |
261 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA112195197 rs549589492 |
261 | C>G | No |
ClinGen Ensembl |
|
|
rs753167171 CA3168690 COSM1695324 |
262 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3168691 rs75061345 |
265 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1256033836 CA358982279 |
266 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3168692 rs764351533 |
267 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1188749353 CA358982293 |
268 | E>D | No |
ClinGen gnomAD |
|
|
rs1035060628 CA112195224 |
269 | L>M | No |
ClinGen TOPMed |
|
|
CA358982305 rs754295036 |
270 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM733768 rs961061054 CA112195238 |
272 | C>* | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 273 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868435235 CA112195246 |
273 | R>H | No |
ClinGen gnomAD |
|
|
CA3168695 rs147434571 |
274 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3168696 rs745539786 |
275 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA3168699 rs746922494 |
277 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs779751266 CA3168698 |
277 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs369162600 CA358982369 |
279 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3168701 rs776290641 |
279 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs369162600 CA3168700 |
279 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1238182688 CA358982388 |
280 | M>I | No |
ClinGen gnomAD |
|
|
CA3168702 rs544450902 |
281 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 283 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779588753 CA3168724 COSM1540183 |
286 | T>M | lung kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs779588753 CA3168723 |
286 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777157483 CA3168727 |
287 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3168726 rs768639222 |
287 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3168728 rs762267382 COSM1230428 |
289 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA358983182 rs77324985 |
290 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766065139 CA3168732 |
291 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs766065139 CA3168733 |
291 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs201741977 CA3168735 |
298 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358983330 rs1242967850 |
298 | Y>H | No |
ClinGen TOPMed |
|
|
rs200016892 CA112204034 |
300 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3168737 rs200016892 |
300 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA112204038 rs544274098 |
301 | L>V | No |
ClinGen 1000Genomes |
|
|
CA3168738 rs145337493 COSM1054408 |
302 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377389556 CA3168740 |
303 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA358983468 rs1220816087 |
304 | D>E | No |
ClinGen gnomAD |
|
|
CA358983453 rs1225627568 |
304 | D>N | No |
ClinGen TOPMed |
|
|
CA3168741 rs780199624 |
305 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1259167087 CA358983473 |
305 | L>V | No |
ClinGen gnomAD |
|
|
rs747228509 CA3168743 |
306 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358983510 rs1270206491 |
307 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 308 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 309 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767983141 CA3168747 |
311 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767983141 CA3168746 |
311 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 312 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358983596 rs1260934960 |
312 | G>R | No |
ClinGen gnomAD |
|
|
CA3168748 rs763356381 |
313 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3168749 rs766875799 |
314 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3168750 rs371074839 |
314 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759156392 CA3168751 |
315 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529833554 CA3168753 |
318 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529833554 CA3168752 |
318 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3168755 rs777627581 |
319 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA112204128 rs777627581 |
319 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3168756 rs546391133 COSM1650242 |
321 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA358983756 rs546391133 |
321 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358983792 rs1370388942 |
322 | E>D | No |
ClinGen TOPMed |
|
|
rs1471944516 CA358983790 |
322 | E>G | No |
ClinGen TOPMed |
|
|
rs755575479 CA112204150 |
323 | R>* | No |
ClinGen Ensembl |
|
|
rs559867227 CA3168759 |
324 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 324 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3168758 rs559867227 |
324 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376026367 CA3168760 |
326 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781330037 CA3168761 |
327 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA358983875 rs147254109 |
328 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3168762 COSM209202 rs147254109 |
328 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA112204198 rs370332090 |
330 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3168766 rs771397236 |
332 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358983923 rs1438861024 COSM1540182 |
332 | G>R | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs200776134 CA3168767 |
333 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358983947 rs1471654827 |
334 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1256722394 CA358983943 |
334 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs759219735 CA3168768 |
335 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs139768762 CA3168769 |
335 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1158298795 CA358983983 |
337 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3168770 rs368069261 |
338 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368069261 CA3168771 |
338 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753745393 CA3168773 |
339 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs763625424 CA3168772 |
339 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3168774 rs149811543 |
340 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358984067 COSM1540181 rs1286368723 |
341 | H>Q | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA358984057 rs1446277411 |
341 | H>Y | No |
ClinGen gnomAD |
|
|
CA112204253 rs970203737 |
342 | Y>S | No |
ClinGen Ensembl |
|
|
rs975946109 CA112204257 |
343 | W>G | No |
ClinGen TOPMed |
|
|
rs1397035286 CA358984103 |
343 | W>S | No |
ClinGen TOPMed |
|
|
CA358984143 rs1579171907 |
345 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 345 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370752590 CA112204262 |
345 | V>M | No |
ClinGen ESP TOPMed |
|
|
CA358984169 rs1355139278 |
346 | E>D | No |
ClinGen gnomAD |
|
|
CA358984149 rs1306667910 |
346 | E>K | No |
ClinGen gnomAD |
|
|
rs1216721195 CA358984186 |
347 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1216721195 CA358984190 |
347 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs758221099 CA3168777 |
349 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs748429317 CA3168779 |
352 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748429317 CA112204278 |
352 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3168780 rs550980940 |
353 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358984326 rs1469466625 |
353 | W>C | No |
ClinGen gnomAD |
|
|
CA112204283 rs567638242 |
354 | E>A | No |
ClinGen 1000Genomes |
|
|
CA358984331 rs1220271971 |
354 | E>K | No |
ClinGen TOPMed |
|
|
rs778044986 CA3168781 |
355 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA112204297 rs778044986 |
355 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358984351 rs1178192096 |
355 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1326434594 CA358984375 |
356 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1326434594 CA358984373 |
356 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA358984384 rs1402085821 |
357 | I>V | No |
ClinGen gnomAD |
|
|
rs1560974906 CA358984414 |
358 | C>W | No |
ClinGen Ensembl |
|
|
CA3168783 rs749794624 |
359 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 360 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771630471 CA3168785 |
361 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA3168787 rs374237670 |
361 | S>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA3168788 rs746160128 |
362 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA358984514 rs1378726388 |
363 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3168789 rs772506477 |
364 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA3168790 rs774965334 |
366 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs536723964 CA112204359 |
366 | G>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs760359489 CA3168791 |
367 | N>H | No |
ClinGen ExAC gnomAD |
|
|
COSM339169 CA358984627 rs1436959061 |
369 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA358984676 rs1245076922 |
371 | P>T | No |
ClinGen gnomAD |
|
|
CA358984699 rs368672196 |
372 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358984707 rs1236579490 |
372 | P>R | No |
ClinGen gnomAD |
|
|
CA3168792 rs368672196 |
372 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358984734 rs1560974968 |
374 | D>H | No |
ClinGen Ensembl |
|
|
rs776176918 CA3168794 |
376 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358984846 rs1179315959 |
378 | L>R | No |
ClinGen gnomAD |
|
|
rs765019514 CA3168796 |
379 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3168795 rs761736958 |
379 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 380 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358984952 rs766232239 CA3168799 |
384 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA112204385 rs928884225 |
385 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3168800 rs752835015 |
387 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1232581635 CA358985054 |
388 | S>R | No |
ClinGen gnomAD |
|
|
CA3168802 rs777991114 |
390 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM2150429 CA358985092 rs777991114 |
390 | W>C | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA112204392 rs1013863724 |
391 | V>I | No |
ClinGen TOPMed |
|
|
CA3168803 rs781586002 |
392 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746418087 CA3168806 |
393 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 394 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780517286 CA3168809 |
397 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs746651691 CA3168810 |
399 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 400 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202048532 CA3168812 |
400 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 401 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363371819 CA358985310 |
402 | E>G | No |
ClinGen TOPMed |
|
|
rs778116045 CA3168813 |
403 | P>* | No |
ClinGen ExAC |
|
|
rs772987198 CA3168817 |
407 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358985435 rs1477803195 |
408 | G>D | No |
ClinGen gnomAD |
|
|
CA358985443 rs1477803195 |
408 | G>V | No |
ClinGen gnomAD |
|
|
rs1168953853 CA358985461 |
409 | V>A | No |
ClinGen gnomAD |
|
|
CA3168818 rs762990748 |
414 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1396185356 CA358985597 |
415 | S>Y | No |
ClinGen TOPMed |
|
|
CA358985625 rs1255425536 |
417 | H>L | No |
ClinGen gnomAD |
|
|
rs751462812 CA3168820 |
417 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1457248887 CA358985650 |
418 | I>M | No |
ClinGen TOPMed |
|
|
rs764350437 CA3168822 |
418 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs553195275 CA3168823 |
419 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757369740 CA3168824 |
420 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA358985684 rs1340821103 |
421 | Y>C | No |
ClinGen gnomAD |
|
|
rs199861732 CA3168825 |
421 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759002546 CA3168827 |
423 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3168828 COSM3780263 rs146642336 |
424 | T>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA358985835 rs1350016494 |
428 | L>P | No |
ClinGen TOPMed |
|
|
CA358985853 rs1478346631 |
429 | I>M | No |
ClinGen gnomAD |
|
|
rs780777205 CA3168832 |
429 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403398387 CA358985879 |
431 | S>G | No |
ClinGen gnomAD |
|
|
rs747832657 COSM2155058 CA3168833 |
433 | P>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1378655296 CA358985971 |
434 | Q>H | No |
ClinGen TOPMed |
|
|
CA3168835 rs772831440 |
435 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 436 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762790342 CA3168836 |
436 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA358986001 rs1579172488 |
437 | F>V | No |
ClinGen Ensembl |
|
|
CA3168837 COSM1328570 rs770830936 |
438 | Q>* | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs759354254 CA3168839 |
439 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA112204563 rs1031983389 |
439 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 439 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3168840 rs767450126 |
441 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1310360130 CA358986062 |
443 | P>S | No |
ClinGen gnomAD |
|
|
rs538878235 CA3168842 |
444 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM76826 CA358986081 rs1247199932 |
445 | F>I | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1316000776 CA358986112 |
446 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1560975221 CA358986108 |
446 | S>P | No |
ClinGen Ensembl |
|
|
CA358986163 rs1370875701 |
451 | N>D | No |
ClinGen TOPMed |
|
|
CA3168844 rs765219761 |
451 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1288779251 CA358986176 |
452 | E>* | No |
ClinGen gnomAD |
|
|
CA3168845 rs758413670 |
453 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA358986197 rs1200221007 |
454 | T>A | No |
ClinGen gnomAD |
|
|
CA3168846 rs766815907 |
454 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA358986231 rs893470878 |
457 | D>A | No |
ClinGen TOPMed |
|
|
CA112204626 rs893470878 |
457 | D>G | No |
ClinGen TOPMed |
|
|
CA358986266 rs1428801890 |
460 | T>A | No |
ClinGen TOPMed |
|
|
CA358986264 rs1428801890 |
460 | T>P | No |
ClinGen TOPMed |
|
|
rs577028611 CA112204651 |
461 | I>T | No |
ClinGen Ensembl |
|
|
CA358986276 rs1412585114 |
461 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 462 | C>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3168851 rs781580234 |
462 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA3168850 rs781580234 |
462 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs777291531 CA3168853 |
463 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3168857 rs145227641 |
464 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3168856 rs145227641 |
464 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 465 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs79639126 CA3168858 |
465 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA3168859 rs775483351 |
466 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs765434450 CA3168861 COSM2157545 |
468 | V>I | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA358986367 rs1317620375 |
469 | V>G | No |
ClinGen gnomAD |
No associated diseases with Q8N9V2
8 regional properties for Q8N9V2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Leucine-rich repeat | 810 - 831 | IPR001611-1 |
| repeat | Leucine-rich repeat | 869 - 889 | IPR001611-2 |
| repeat | Leucine-rich repeat | 925 - 946 | IPR001611-3 |
| repeat | Leucine-rich repeat | 981 - 1002 | IPR001611-4 |
| domain | DAPIN domain | 1 - 94 | IPR004020 |
| domain | NACHT nucleoside triphosphatase | 207 - 405 | IPR007111 |
| domain | NOD2, winged helix domain | 446 - 501 | IPR041075 |
| domain | NACHT, LRR and PYD domains-containing protein, helical domain HD2 | 503 - 620 | IPR041267 |
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 | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| 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. |
| 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. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| 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 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. |
| 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 viral entry into host cell | Any process that modulates the frequency, rate or extent of the viral entry into the host cell. |
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 |
| Q5EBN2 | TRIM61 | Putative tripartite motif-containing protein 61 | 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 |
| Q9BZY9 | TRIM31 | E3 ubiquitin-protein ligase TRIM31 | Homo sapiens (Human) | PR |
| Q9H2S5 | RNF39 | RING finger protein 39 | 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 |
| 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 |
| P19474 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | 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 |
| 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 |
| MSTADLMENL | REELTCFICL | DYFSSPVTTE | CGHSFCLVCL | LRSWEEHNTP | LSCPECWRTL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EGPHFQSNER | LGRLASIARQ | LRSQVLQSED | EQGSYGRMPT | TAKALSDDEQ | GGSAFVAQSH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GANRVHLSSE | AEEHHREKLQ | EILNLLRVRR | KEAQAVLTHE | KERVKLCQEE | TKTCKQVVVS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EYMKMHQFLK | EEEQLQLQLL | EQEEKENMRK | LRNNEIKLTQ | QIRSLSKMIA | QIESSSQSSA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FESLEEVRGA | LERSEPLLLQ | CPEATTTELS | LCRITGMKEM | LRKFSTEITL | DPATANAYLV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LSEDLKSVKY | GGSRQQLPDN | PERFDQSATV | LGTQIFTSGR | HYWEVEVGNK | TEWEVGICKD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SVSRKGNLPK | PPGDLFSLIG | LKIGDDYSLW | VSSPLKGQHV | REPVCKVGVF | LDYESGHIAF |
| 430 | 440 | 450 | 460 | ||
| YNGTDESLIY | SFPQASFQEA | LRPIFSPCLP | NEGTNTDPLT | ICSLNSHV |