Q96RU7
PR
Gene name |
TRIB3 (C20orf97, NIPK, SKIP3, TRB3) |
Protein name |
Tribbles homolog 3 |
Names |
TRB-3, Neuronal cell death-inducible putative kinase, SINK, p65-interacting inhibitor of NF-kappa-B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57761 |
EC number |
|
Protein Class |
|
Descriptions
(Annotation based on sequence homology with Q96RU8)
TRIB1 controls the levels of C/EBPs involved in the differentiation of myeloid cells and adipocytes by recruiting the proteins to COP1 ubiquitin ligase. TRIB1 recognizes a conserved stretch within a transactivation domain of C/EBP proteins, and suggests a model by which TRIB1 acts as a dynamic adapter for recruiting C/EBPs to COP1. TRIB1 contains a pseudokinase domain and this pseudokinase interacts with the COP1-binding motif and prevents the recruitment of COP1 ubiquitin ligase.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q96RU7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96RU7-F1 | Predicted | AlphaFoldDB |
392 variants for Q96RU7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM1026615 CA310649261 rs561436808 |
2 | R>* | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA9722474 rs561436808 |
2 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9722475 rs763995626 |
2 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407921737 rs1177534922 |
3 | A>D | No |
ClinGen gnomAD |
|
|
rs1177534922 CA407921734 |
3 | A>G | No |
ClinGen gnomAD |
|
|
rs201377550 CA9722476 |
3 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs200292810 CA9722477 |
4 | T>P | No |
ClinGen 1000Genomes |
|
|
rs1398755474 CA407921817 |
8 | A>S | No |
ClinGen gnomAD |
|
|
rs1158204760 CA407921822 |
8 | A>V | No |
ClinGen gnomAD |
|
|
CA9722481 rs756979282 |
9 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs756979282 CA9722480 |
9 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9722482 rs200422001 |
10 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343840941 CA407921855 |
11 | G>D | No |
ClinGen gnomAD |
|
|
CA310649271 rs919254456 |
13 | L>P | No |
ClinGen TOPMed |
|
|
rs540055195 CA9722484 |
16 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559951555 CA9722485 |
18 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201854555 CA9722489 |
18 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9722488 rs201854555 |
18 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9722486 rs559951555 |
18 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369926677 CA9722490 |
19 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9722491 rs747320204 |
21 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs960600027 CA310649285 |
22 | D>G | No |
ClinGen TOPMed |
|
|
rs771026278 CA9722492 |
22 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA407922085 rs771026278 |
22 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1483093267 CA407922143 |
23 | D>V | No |
ClinGen TOPMed |
|
|
rs1289001951 CA407922171 |
24 | N>K | No |
ClinGen gnomAD |
|
|
rs776819650 CA9722493 |
25 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs759562235 CA9722494 |
27 | T>A | No |
ClinGen ExAC |
|
|
CA9722495 rs764049018 |
27 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722498 rs146062790 |
28 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9722497 rs146062790 |
28 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1240510 rs139999618 CA9722499 |
29 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs142361535 CA9722500 COSM1026627 |
29 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373054103 CA9722502 |
31 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA407922357 rs1404852588 |
34 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs754475678 CA9722503 |
34 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722504 rs779572769 |
35 | A>G | No |
ClinGen ExAC gnomAD |
|
|
COSM264185 CA9722506 rs150841542 |
36 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9722507 rs139296889 COSM1026630 |
36 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 38 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481135283 CA407922417 |
39 | P>S | No |
ClinGen gnomAD |
|
|
CA310649326 rs149937687 |
40 | Q>* | No |
ClinGen ESP TOPMed |
|
|
CA9722510 rs568161318 |
40 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745951994 CA9722511 |
41 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1031777107 CA310649329 |
42 | R>I | No |
ClinGen Ensembl |
|
|
rs533907393 CA9722512 |
43 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1274664497 CA407922478 |
44 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1274664497 CA407922479 |
44 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761852047 CA9722515 |
45 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200711201 CA9722516 |
45 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9722518 rs200711201 |
45 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9722517 rs200711201 |
45 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761852047 CA407922492 COSM1713048 |
45 | P>S | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1462504433 CA407922510 |
46 | C>Y | No |
ClinGen gnomAD |
|
|
CA9722521 rs759247301 |
47 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9722522 rs764904177 |
49 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs199862878 CA9722524 |
50 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 51 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407922597 rs758990580 |
52 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA407922610 rs1408467172 |
52 | P>L | No |
ClinGen gnomAD |
|
|
rs758990580 CA9722525 |
52 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 53 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249007874 CA407922638 |
54 | T>A | No |
ClinGen gnomAD |
|
|
rs1320935448 CA407922713 |
57 | D>H | No |
ClinGen TOPMed |
|
|
CA9722527 rs56032009 |
58 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407922755 rs56032009 |
58 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722528 rs147613161 |
58 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407922763 rs147613161 |
58 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1356357316 CA407922779 |
59 | A>P | No |
ClinGen TOPMed |
|
|
rs1454927427 CA407922801 |
59 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA407922808 rs1307582328 |
60 | T>A | No |
ClinGen TOPMed |
|
|
CA9722529 VAR_042372 rs757496714 COSM13371 |
60 | T>I | central_nervous_system a glioblastoma multiforme sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
rs1227495509 CA407922863 |
61 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 61 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408116875 CA407922929 |
63 | A>D | No |
ClinGen TOPMed |
|
|
CA9722531 rs202008220 |
64 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407922991 rs1213576217 |
66 | S>C | No |
ClinGen gnomAD |
|
|
CA407922980 rs1336917158 |
66 | S>P | No |
ClinGen gnomAD |
|
|
CA9722532 rs769974687 |
67 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722533 rs61746925 |
67 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1242438181 CA407923034 |
69 | G>R | No |
ClinGen gnomAD |
|
|
rs1016761523 CA310649486 |
69 | G>V | No |
ClinGen Ensembl |
|
|
CA407923080 rs1457835641 |
70 | P>R | No |
ClinGen TOPMed |
|
|
CA9722534 rs113126464 |
70 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs113126464 CA310649491 |
70 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs772075386 CA9722535 |
71 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA310649497 rs534352037 |
71 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA407923144 rs1474478967 |
73 | L>I | No |
ClinGen gnomAD |
|
|
CA407923183 rs1167566451 |
74 | L>R | No |
ClinGen TOPMed |
|
|
rs1471155026 CA407923218 |
75 | E>D | No |
ClinGen gnomAD |
|
|
rs138193198 CA9722537 |
75 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs972660806 CA407923226 |
76 | P>A | No |
ClinGen gnomAD |
|
|
CA310649500 rs972660806 |
76 | P>T | No |
ClinGen gnomAD |
|
|
rs61740293 CA9722541 |
77 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9722539 rs61740293 |
77 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9722540 rs61740293 |
77 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775164083 CA9722542 |
78 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9722543 rs61740295 |
79 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs574761647 CA9722546 |
80 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA407923424 rs143437909 |
81 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1565834 CA9722548 rs143437909 |
81 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9722547 COSM723764 rs767907931 |
81 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs910322157 CA310649540 |
83 | Y>* | No |
ClinGen TOPMed |
|
|
rs55927097 CA310649543 |
84 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs55927097 CA9722549 |
84 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2295490 CA407923521 |
84 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2295490 CA9722550 VAR_023965 |
84 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA407923536 rs1386222937 |
85 | A>T | No |
ClinGen TOPMed |
|
|
CA9722551 rs749387697 |
86 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs754952228 CA9722552 |
87 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs779041981 CA9722553 |
88 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1197580335 CA407923652 |
90 | T>A | No |
ClinGen gnomAD |
|
|
CA310649567 rs976195181 |
90 | T>I | No |
ClinGen TOPMed |
|
|
CA407923671 rs1377376452 |
91 | G>S | No |
ClinGen gnomAD |
|
|
rs746989582 CA9722554 |
93 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1418544558 CA407923815 |
94 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1303282974 CA407923839 |
95 | T>I | No |
ClinGen gnomAD |
|
|
CA407923850 rs1346971425 |
96 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA407923868 rs1402668838 |
96 | C>Y | No |
ClinGen gnomAD |
|
|
CA407923971 rs1336064257 |
97 | K>N | No |
ClinGen gnomAD |
|
|
rs907174558 CA310651227 |
98 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA407926980 rs1442234441 |
100 | P>S | No |
ClinGen gnomAD |
|
|
CA407927007 rs200085611 |
101 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722576 rs200085611 |
101 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407927043 rs1463164086 |
102 | Q>* | No |
ClinGen gnomAD |
|
|
CA407927247 rs1421119563 |
106 | A>D | No |
ClinGen gnomAD |
|
|
CA9722581 rs138380491 |
107 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1308182353 CA407927407 |
112 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9722583 rs772570025 |
112 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722585 rs761152597 |
113 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773647097 CA9722584 |
113 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407927499 rs70961720 |
115 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722587 rs70961720 |
115 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407927480 rs1181823175 |
115 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1181823175 CA407927473 |
115 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs528887266 CA9722588 |
116 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407927524 rs528887266 |
116 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 116 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752856987 CA9722590 |
117 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA9722592 rs781292921 |
122 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368799694 CA9722591 |
122 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407927810 rs1362680693 |
123 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs6084298 CA9722593 |
125 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407927951 rs1383999888 |
125 | E>G | No |
ClinGen gnomAD |
|
|
CA9722594 rs756086988 |
126 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA407927977 rs1600253395 |
126 | V>G | No |
ClinGen Ensembl |
|
|
CA310651315 rs1049291062 |
128 | A>G | No |
ClinGen Ensembl |
|
|
rs1224474676 CA407928043 |
129 | G>R | No |
ClinGen gnomAD |
|
|
CA9722595 rs370735737 |
130 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310651316 rs887503755 |
130 | T>S | No |
ClinGen gnomAD |
|
|
CA9722596 rs372541563 |
131 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768222264 CA9722597 |
131 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9722598 rs778559464 |
132 | L>I | No |
ClinGen ExAC |
|
|
rs1600253468 CA407928149 |
134 | Y>H | No |
ClinGen Ensembl |
|
|
rs1261995869 CA407928182 |
135 | A>T | No |
ClinGen gnomAD |
|
|
rs199753662 CA407928298 |
139 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3693485 CA9722601 rs199753662 |
139 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9722600 rs771624931 |
139 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs761215676 CA9722602 |
140 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 143 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1007900461 CA407928416 |
143 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1007900461 CA310651339 |
143 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs376597508 CA9722604 |
144 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9722603 rs771450290 |
144 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 145 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9722605 rs41281850 |
146 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs41281850 CA310651371 |
146 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752911865 CA9722608 |
149 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9722607 rs752911865 |
149 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722609 rs764336159 |
149 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722611 rs367590987 |
151 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756027908 CA9722613 |
151 | R>H | No |
ClinGen ExAC TOPMed |
|
|
CA407928783 rs756027908 |
151 | R>L | No |
ClinGen ExAC TOPMed |
|
|
rs747732928 CA9722612 |
151 | R>TCTA* | No |
ClinGen ExAC |
|
|
CA9722615 rs753577366 |
152 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs780001008 CA9722614 |
152 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9722617 rs45583743 |
153 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_042373 rs35051116 CA9722618 |
153 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1307436880 CA407928904 |
154 | I>N | No |
ClinGen TOPMed |
|
|
rs144665275 CA9722621 |
157 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407929011 rs1224178031 |
157 | P>T | No |
ClinGen gnomAD |
|
|
CA9722622 rs771375777 |
160 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1230289 CA9722624 rs200611082 |
161 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1164746151 CA407929198 |
163 | F>S | No |
ClinGen TOPMed |
|
|
rs372139142 CA9722626 |
164 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9722628 COSM1026674 rs199779823 |
164 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA9722627 rs199779823 |
164 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1425386651 CA407929249 |
165 | Q>* | No |
ClinGen gnomAD |
|
|
rs888680676 CA310651462 |
165 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9722629 rs774602165 |
166 | M>V | No |
ClinGen ExAC |
|
|
rs1348417763 CA407929362 |
167 | A>T | No |
ClinGen gnomAD |
|
|
COSM1026676 CA9722631 rs761884642 |
169 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9722633 rs148545501 |
171 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9722635 rs765053746 |
172 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA407929691 rs1293936907 |
175 | Q>* | No |
ClinGen TOPMed |
|
|
CA407929762 rs1352815856 |
176 | H>R | No |
ClinGen TOPMed |
|
|
CA407929749 rs1223133099 |
176 | H>Y | No |
ClinGen TOPMed |
|
|
rs777366623 CA9722638 |
177 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9722637 rs201080818 |
177 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9722639 rs140478143 |
178 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 180 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9722641 rs149447454 |
181 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149447454 CA407929953 |
181 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1445306127 CA407929968 |
181 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs149447454 CA407929949 |
181 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407930068 rs1411860615 |
184 | K>R | No |
ClinGen gnomAD |
|
|
CA310651510 rs931185651 |
187 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9722643 rs200385673 |
187 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs931185651 CA407930183 |
187 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9722644 rs776018836 |
189 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359122702 CA407930317 |
190 | F>L | No |
ClinGen TOPMed |
|
|
CA9722646 rs199903272 |
191 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407930393 rs1454096682 |
192 | D>H | No |
ClinGen gnomAD |
|
|
CA9722647 rs755869660 |
193 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761925919 CA9722648 |
193 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761925919 CA407930449 |
193 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315833890 CA407930484 |
194 | E>D | No |
ClinGen gnomAD |
|
|
rs1274682102 CA407930480 |
194 | E>V | No |
ClinGen gnomAD |
|
|
rs1348438161 CA407933586 |
197 | K>R | No |
ClinGen gnomAD |
|
|
CA407933606 rs1262316318 |
198 | L>V | No |
ClinGen TOPMed |
|
|
rs1400764470 CA407933671 |
200 | L>P | No |
ClinGen gnomAD |
|
|
rs944110123 CA310653864 |
205 | D>G | No |
ClinGen TOPMed |
|
|
CA310653865 rs903098982 |
206 | S>Y | No |
ClinGen TOPMed |
|
|
CA407933957 rs1371843128 |
207 | C>Y | No |
ClinGen TOPMed |
|
|
CA9722675 rs562068333 |
208 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed |
|
rs1381061433 CA407934051 |
210 | T>S | No |
ClinGen TOPMed |
|
|
rs1230872490 CA407934145 |
212 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 212 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9722677 rs374311690 |
214 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 214 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9722678 rs767036213 |
215 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs534219619 CA310653873 |
216 | L>P | No |
ClinGen Ensembl |
|
|
CA407934384 rs1205757541 |
217 | W>R | No |
ClinGen gnomAD |
|
|
CA9722681 rs755625541 |
219 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9722683 rs374329385 |
220 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407934619 rs755506046 |
221 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722684 rs755506046 |
221 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722685 rs779380315 |
221 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1161000478 CA407934731 |
223 | P>L | No |
ClinGen gnomAD |
|
|
CA407934737 rs1377888625 |
224 | A>T | No |
ClinGen gnomAD |
|
|
rs149890996 CA9722687 |
225 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200530153 CA9722689 COSM1026748 |
226 | V>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1336161436 CA407934902 |
227 | G>A | No |
ClinGen gnomAD |
|
|
CA407934848 rs1322695364 |
227 | G>R | No |
ClinGen gnomAD |
|
|
rs144887765 CA9722690 |
228 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 228 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1001967226 CA310653934 |
229 | E>K | No |
ClinGen Ensembl |
|
|
rs1568538049 CA407935089 |
231 | L>F | No |
ClinGen Ensembl |
|
|
rs1225318124 CA407935099 |
232 | S>G | No |
ClinGen TOPMed |
|
|
CA9722693 rs144632965 |
234 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144632965 CA9722692 |
234 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149061553 CA9722691 |
234 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407935268 rs377104264 |
235 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9722695 rs190953516 |
235 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190953516 CA310653956 |
235 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9722696 rs377104264 |
235 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 237 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146612978 CA9722697 |
237 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9722699 rs144357571 |
238 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9722701 rs755561059 |
240 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA407935452 rs1600257676 |
241 | A>P | No |
ClinGen Ensembl |
|
|
rs759021800 CA310653984 |
241 | A>V | No |
ClinGen Ensembl |
|
|
rs753115173 CA9722703 |
243 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1460114331 CA407935657 |
244 | V>A | No |
ClinGen Ensembl |
|
|
CA9722704 rs758635562 |
244 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162307451 CA407935689 |
245 | W>* | No |
ClinGen gnomAD |
|
|
CA407935670 rs1255186538 |
245 | W>R | No |
ClinGen TOPMed |
|
|
CA9722706 rs747299411 |
246 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA920148727 rs1568538149 |
247 | L>H | No |
ClinGen Ensembl |
|
|
CA407935748 rs1448806285 |
247 | L>P | No |
ClinGen gnomAD |
|
|
rs1042068721 CA310653992 |
248 | G>D | No |
ClinGen TOPMed |
|
|
CA9722707 rs757442359 |
248 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9722709 rs141572809 |
249 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1313484694 CA407935813 |
250 | A>T | No |
ClinGen gnomAD |
|
|
CA9722711 rs774097748 |
251 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs138118324 CA310654007 |
252 | F>L | No |
ClinGen ESP gnomAD |
|
|
CA407935900 rs1600257749 |
253 | T>P | No |
ClinGen Ensembl |
|
|
rs1600257754 CA407935937 |
254 | M>I | No |
ClinGen Ensembl |
|
|
rs748102304 CA9722712 |
254 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1200976699 CA407935986 |
256 | A>S | No |
ClinGen gnomAD |
|
|
CA310654011 rs149594802 |
256 | A>V | No |
ClinGen ESP |
|
|
CA310654013 rs866148993 |
257 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9722715 rs534951995 |
257 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9722717 rs760450429 |
258 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760450429 CA9722716 |
258 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310654018 rs1013153605 |
259 | Y>* | No |
ClinGen TOPMed |
|
|
CA407936096 rs1600257783 |
259 | Y>S | No |
ClinGen Ensembl |
|
|
CA407936123 rs1186318451 |
260 | P>L | No |
ClinGen gnomAD |
|
|
CA407936191 rs1389270403 |
262 | Q>* | No |
ClinGen TOPMed |
|
|
rs111635801 CA310654021 |
262 | Q>R | No |
ClinGen Ensembl |
|
|
CA9722719 rs759054542 |
264 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA407936308 rs1470213465 |
265 | E>* | No |
ClinGen gnomAD |
|
|
CA9722721 rs753204950 |
267 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407936463 rs1003885985 |
270 | F>L | No |
ClinGen TOPMed |
|
|
rs147263507 CA9722727 |
271 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9722728 rs764408437 |
273 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9722730 rs200373395 |
274 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA407936573 rs200373395 |
274 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs56291463 CA9722731 VAR_042374 |
274 | R>H | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA9722729 rs200373395 |
274 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9722732 rs201177176 |
275 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140801463 CA9722733 |
275 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140801463 CA9722734 |
275 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773160631 CA9722737 |
276 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773160631 CA407936619 |
276 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146095753 CA9722736 |
276 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 277 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263420012 CA407936638 |
277 | A>V | No |
ClinGen gnomAD |
|
|
rs375469008 CA407936668 |
278 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372839206 CA9722741 |
278 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722740 rs372839206 |
278 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236478034 CA407936643 |
278 | Y>H | No |
ClinGen TOPMed |
|
|
rs147404126 CA9722744 |
279 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147404126 CA9722743 |
279 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1178138769 CA407936699 |
279 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1357412885 CA407936724 |
280 | L>F | No |
ClinGen gnomAD |
|
|
rs764614610 CA9722745 |
281 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA407936758 rs764614610 |
281 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1302373644 CA407936825 |
283 | G>C | No |
ClinGen gnomAD |
|
|
CA9722746 rs751952607 COSM4136886 |
285 | S>L | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1568538408 CA407936909 |
286 | A>T | No |
ClinGen Ensembl |
|
|
CA9722749 rs767852731 |
288 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs750710612 CA9722750 |
288 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407937034 rs201381552 |
289 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs572540425 CA9722753 |
289 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs572540425 CA9722754 |
289 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9722752 rs201381552 |
289 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407937089 rs1453108118 |
290 | C>R | No |
ClinGen TOPMed |
|
|
CA407937092 rs924581832 |
290 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA310654176 rs924581832 |
290 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs758296486 CA9722755 |
291 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722756 rs375609488 |
293 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9722757 COSM1740663 rs541757425 |
293 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs541757425 CA9722758 |
293 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1488675231 CA407937202 |
295 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 295 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781133629 CA9722759 |
297 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765696231 CA9722760 |
297 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765696231 CA407937246 |
297 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765696231 CA407937245 |
297 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722763 rs762486995 |
298 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722762 rs142647921 COSM1751404 |
298 | R>W | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 300 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296576906 CA407937347 |
300 | P>S | No |
ClinGen gnomAD |
|
|
CA9722764 rs150932071 |
301 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA310654227 rs1028401819 COSM3799530 |
302 | E>K | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA9722766 rs201359012 |
303 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722765 rs139447354 |
303 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1325367647 CA407937512 |
305 | T>A | No |
ClinGen TOPMed |
|
|
rs1315713203 CA407937536 |
306 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 307 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9722771 rs753864966 |
314 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA9722770 rs766581672 |
314 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs371072439 CA9722772 |
316 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA310654257 rs952777500 |
316 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs779124482 CA9722773 |
317 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779124482 CA407937851 |
317 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722775 rs751618484 |
319 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310654291 rs533372729 |
319 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA310654285 rs751618484 |
319 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240022069 CA407937949 |
320 | M>T | No |
ClinGen gnomAD |
|
|
rs781183054 CA9722777 |
321 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA407938067 rs1156974202 |
323 | A>V | No |
ClinGen gnomAD |
|
|
rs1406121792 CA407938078 |
324 | P>A | No |
ClinGen gnomAD |
|
|
rs769364709 CA9722779 |
325 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407938139 rs769364709 |
325 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9722780 rs529433973 |
326 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs146704824 CA9722781 |
326 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146704824 CA9722782 |
326 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs962381247 CA310654332 |
327 | S>A | No |
ClinGen TOPMed |
|
|
CA9722783 rs374473490 |
328 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA407938383 rs1379820878 |
333 | A>S | No |
ClinGen gnomAD |
|
|
rs762356631 CA9722784 |
333 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773476269 CA9722786 |
334 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA9722785 rs200901075 |
334 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766520143 CA9722788 |
335 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766520143 CA407938454 |
335 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 337 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407938495 rs1199100255 |
337 | P>R | No |
ClinGen gnomAD |
|
|
rs200830984 CA9722790 |
339 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1473170832 CA407938661 |
343 | D>G | No |
ClinGen gnomAD |
|
|
rs757282337 CA9722793 |
344 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1580010 CA9722795 rs56342286 VAR_042375 |
347 | E>K | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA310654384 rs1042117080 |
349 | E>D | No |
ClinGen Ensembl |
|
|
CA9722796 rs750191742 |
350 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9722798 rs755993110 |
353 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1259357509 CA407939016 |
353 | E>G | No |
ClinGen TOPMed |
|
|
rs755993110 CA9722797 |
353 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449668826 CA407939056 |
354 | V>E | No |
ClinGen gnomAD |
|
|
rs375125314 CA9722799 |
354 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407939143 rs1279804641 |
357 | Y>C | No |
ClinGen gnomAD |
|
|
rs773707686 CA9722804 |
357 | Y>N | No |
ClinGen ExAC |
No associated diseases with Q96RU7
1 regional properties for Q96RU7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 68 - 315 | IPR000719 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| mitogen-activated protein kinase kinase binding | Binding to a mitogen-activated protein kinase kinase, a protein that can phosphorylate a MAP kinase. |
| 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. |
| protein kinase inhibitor activity | Binds to and stops, prevents or reduces the activity of a protein kinase, an enzyme which phosphorylates a protein. |
| transcription corepressor activity | A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
| ubiquitin-protein transferase regulator activity | Binds to and modulates the activity of a ubiquitin-protein transferase, an enzyme that catalyzes the covalent attachment of ubiquitin to lysine in a substrate protein. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to insulin stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to a stimulus indicating endoplasmic reticulum (ER) stress, and ends when the execution phase of apoptosis is triggered. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of fat cell differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation. |
| negative regulation of fatty acid biosynthetic process | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids. |
| negative regulation of protein kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| positive regulation of proteasomal ubiquitin-dependent protein catabolic process | Any process that activates or increases the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
| positive regulation of protein binding | Any process that activates or increases the frequency, rate or extent of protein binding. |
| positive regulation of ubiquitin-protein transferase activity | Any process that activates, maintains or increases the rate of ubiquitin transferase activity. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of autophagy | Any process that modulates the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| regulation of glucose transmembrane transport | Any process that modulates the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of MAP kinase activity | Any process that modulates the frequency, rate or extent of MAP kinase activity. |
| response to endoplasmic reticulum 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 stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
65 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q02066 | Abscisic acid-inducible protein kinase | Triticum aestivum (Wheat) | PR | |
| Q3SZW1 | TSSK1B | Testis-specific serine/threonine-protein kinase 1 | Bos taurus (Bovine) | PR |
| Q5GLH2 | TRIB2 | Tribbles homolog 2 | Bos taurus (Bovine) | SS |
| Q0VCE3 | TRIB3 | Tribbles homolog 3 | Bos taurus (Bovine) | SS |
| Q28283 | TRIB2 | Tribbles homolog 2 | Canis lupus familiaris (Dog) (Canis familiaris) | SS |
| Q14680 | MELK | Maternal embryonic leucine zipper kinase | Homo sapiens (Human) | EV |
| Q15831 | STK11 | Serine/threonine-protein kinase STK11 | Homo sapiens (Human) | PR |
| Q13131 | PRKAA1 | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | Homo sapiens (Human) | EV |
| Q96RG2 | PASK | PAS domain-containing serine/threonine-protein kinase | Homo sapiens (Human) | EV |
| P54646 | PRKAA2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Homo sapiens (Human) | EV |
| Q9BXA7 | TSSK1B | Testis-specific serine/threonine-protein kinase 1 | Homo sapiens (Human) | PR |
| Q92519 | TRIB2 | Tribbles homolog 2 | Homo sapiens (Human) | SS |
| Q96RU8 | TRIB1 | Tribbles homolog 1 | Homo sapiens (Human) | EV |
| Q8BRK8 | Prkaa2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Mus musculus (Mouse) | SS |
| Q61241 | Tssk1b | Testis-specific serine/threonine-protein kinase 1 | Mus musculus (Mouse) | PR |
| Q61846 | Melk | Maternal embryonic leucine zipper kinase | Mus musculus (Mouse) | PR |
| O54863 | Tssk2 | Testis-specific serine/threonine-protein kinase 2 | Mus musculus (Mouse) | PR |
| Q5EG47 | Prkaa1 | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | Mus musculus (Mouse) | SS |
| Q8K4K4 | Trib1 | Tribbles homolog 1 | Mus musculus (Mouse) | SS |
| Q8K4K2 | Trib3 | Tribbles homolog 3 | Mus musculus (Mouse) | SS |
| Q8K4K3 | Trib2 | Tribbles homolog 2 | Mus musculus (Mouse) | SS |
| Q28948 | PRKAA2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Sus scrofa (Pig) | SS |
| Q09137 | Prkaa2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Rattus norvegicus (Rat) | EV |
| P54645 | Prkaa1 | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | Rattus norvegicus (Rat) | EV |
| Q9WTQ6 | Trib3 | Tribbles homolog 3 | Rattus norvegicus (Rat) | SS |
| Q5QNM6 | CIPK13 | Putative CBL-interacting protein kinase 13 | Oryza sativa subsp japonica (Rice) | PR |
| Q5JLQ9 | CIPK30 | CBL-interacting protein kinase 30 | Oryza sativa subsp japonica (Rice) | PR |
| Q5N942 | SAPK4 | Serine/threonine-protein kinase SAPK4 | Oryza sativa subsp japonica (Rice) | PR |
| Q852Q0 | OSK3 | Serine/threonine protein kinase OSK3 | Oryza sativa subsp. japonica (Rice) | SS |
| Q75LR7 | SAPK1 | Serine/threonine-protein kinase SAPK1 | Oryza sativa subsp japonica (Rice) | PR |
| Q75H77 | SAPK10 | Serine/threonine-protein kinase SAPK10 | Oryza sativa subsp japonica (Rice) | PR |
| Q7Y0B9 | SAPK8 | Serine/threonine-protein kinase SAPK8 | Oryza sativa subsp japonica (Rice) | PR |
| Q7XQP4 | SAPK7 | Serine/threonine-protein kinase SAPK7 | Oryza sativa subsp japonica (Rice) | PR |
| Q852Q2 | OSK1 | Serine/threonine protein kinase OSK1 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6ZLP5 | CIPK23 | CBL-interacting protein kinase 23 | Oryza sativa subsp japonica (Rice) | PR |
| Q0D4J7 | SAPK2 | Serine/threonine-protein kinase SAPK2 | Oryza sativa subsp japonica (Rice) | PR |
| Q8LIG4 | CIPK3 | CBL-interacting protein kinase 3 | Oryza sativa subsp japonica (Rice) | PR |
| Q852Q1 | OSK4 | Serine/threonine protein kinase OSK4 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6ERS4 | CIPK16 | CBL-interacting protein kinase 16 | Oryza sativa subsp japonica (Rice) | PR |
| P0C5D6 | SAPK3 | Serine/threonine-protein kinase SAPK3 | Oryza sativa subsp japonica (Rice) | PR |
| Q2RAX3 | CIPK33 | CBL-interacting protein kinase 33 | Oryza sativa subsp japonica (Rice) | PR |
| Q75V57 | SAPK9 | Serine/threonine-protein kinase SAPK9 | Oryza sativa subsp japonica (Rice) | PR |
| Q21017 | kin-29 | Serine/threonine-protein kinase kin-29 | Caenorhabditis elegans | SS |
| P45894 | aak-1 | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | Caenorhabditis elegans | SS |
| Q95ZQ4 | aak-2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Caenorhabditis elegans | SS |
| G5EED4 | nipi-3 | Protein nipi-3 | Caenorhabditis elegans | PR |
| P43291 | SRK2A | Serine/threonine-protein kinase SRK2A | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q93VD3 | CIPK23 | CBL-interacting serine/threonine-protein kinase 23 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9C958 | SRK2B | Serine/threonine-protein kinase SRK2B | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M9E9 | SRK2C | Serine/threonine-protein kinase SRK2C | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O64812 | SRK2J | Serine/threonine-protein kinase SRK2J | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q2V452 | CIPK3 | CBL-interacting serine/threonine-protein kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| O22971 | CIPK13 | CBL-interacting serine/threonine-protein kinase 13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38997 | KIN10 | SNF1-related protein kinase catalytic subunit alpha KIN10 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P92958 | KIN11 | SNF1-related protein kinase catalytic subunit alpha KIN11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39192 | SRK2D | Serine/threonine-protein kinase SRK2D | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O65554 | CIPK6 | CBL-interacting serine/threonine-protein kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q940H6 | SRK2E | Serine/threonine-protein kinase SRK2E | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P43292 | SRK2G | Serine/threonine-protein kinase SRK2G | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LDI3 | CIPK24 | CBL-interacting serine/threonine-protein kinase 24 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FLZ3 | KIN12 | SNF1-related protein kinase catalytic subunit alpha KIN12 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FJ54 | CIPK20 | CBL-interacting serine/threonine-protein kinase 20 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94CG0 | CIPK21 | CBL-interacting serine/threonine-protein kinase 21 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FFP9 | SRK2H | Serine/threonine-protein kinase SRK2H | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39193 | SRK2I | Serine/threonine-protein kinase SRK2I | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRATPLAAPA | GSLSRKKRLE | LDDNLDTERP | VQKRARSGPQ | PRLPPCLLPL | SPPTAPDRAT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AVATASRLGP | YVLLEPEEGG | RAYQALHCPT | GTEYTCKVYP | VQEALAVLEP | YARLPPHKHV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ARPTEVLAGT | QLLYAFFTRT | HGDMHSLVRS | RHRIPEPEAA | VLFRQMATAL | AHCHQHGLVL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RDLKLCRFVF | ADRERKKLVL | ENLEDSCVLT | GPDDSLWDKH | ACPAYVGPEI | LSSRASYSGK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AADVWSLGVA | LFTMLAGHYP | FQDSEPVLLF | GKIRRGAYAL | PAGLSAPARC | LVRCLLRREP |
| 310 | 320 | 330 | 340 | 350 | |
| AERLTATGIL | LHPWLRQDPM | PLAPTRSHLW | EAAQVVPDGL | GLDEAREEEG | DREVVLYG |