Q9BXA7
PR
Gene name |
TSSK1B (SPOGA1, SPOGA4, STK22A, STK22D, TSSK1) |
Protein name |
Testis-specific serine/threonine-protein kinase 1 |
Names |
TSK-1, TSK1, TSSK-1, Testis-specific kinase 1, Serine/threonine-protein kinase 22A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83942 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
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
153-180 (Activation loop from InterPro)
Target domain |
12-272 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1 structures for Q9BXA7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BXA7-F1 | Predicted | AlphaFoldDB |
382 variants for Q9BXA7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1331491584 CA360635013 |
2 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs192415501 CA360635001 |
3 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200485378 CA3371140 |
4 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1387198272 CA360634994 |
5 | A>T | No |
ClinGen gnomAD |
|
|
COSM264244 rs767886872 COSM264243 CA3371139 |
9 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3371138 rs762478599 COSM1230725 |
9 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs367688907 CA3371137 |
10 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360634964 rs1477878000 |
10 | R>Q | No |
ClinGen gnomAD |
|
|
CA3371136 rs768799103 |
12 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360634933 rs1209402409 |
15 | G>A | No |
ClinGen gnomAD |
|
|
CA360634935 rs1248022789 |
15 | G>R | No |
ClinGen gnomAD |
|
|
COSM1432516 CA360634937 rs1248022789 |
15 | G>W | large_intestine Variant assessed as Somatic; 4.643e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs746760750 CA3371132 |
17 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200123059 CA360634916 |
18 | L>V | No |
ClinGen gnomAD |
|
|
rs1345369341 CA360634900 |
20 | E>G | No |
ClinGen gnomAD |
|
|
rs11556766 CA125018758 |
23 | Y>C | No |
ClinGen ESP gnomAD |
|
|
rs11556766 CA125018759 |
23 | Y>S | No |
ClinGen ESP gnomAD |
|
|
CA3371131 rs777683839 |
24 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1436622166 CA360634865 |
26 | V>I | No |
ClinGen gnomAD |
|
|
rs1356956990 CA360634847 |
28 | S>C | No |
ClinGen gnomAD |
|
|
rs371883440 CA3371129 |
29 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3371128 rs778832320 |
29 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754431398 CA3371127 |
30 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs754431398 CA360634837 |
30 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA360634830 rs1234275424 |
31 | S>C | No |
ClinGen TOPMed |
|
|
rs201871941 CA3371125 |
33 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755838825 CA3371124 |
33 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201871941 CA360634820 |
33 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3371123 rs375540062 |
36 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360634793 rs1481376872 |
37 | N>S | No |
ClinGen TOPMed |
|
|
CA125018704 COSM2991424 COSM2991423 rs948968186 |
39 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3371121 rs757711263 |
40 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA360634770 rs1202728440 |
41 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 42 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371539722 CA3371119 |
44 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371539722 COSM286043 COSM286042 CA360634748 |
44 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs763097374 CA3371118 |
45 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763097374 CA360634741 |
45 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3371117 rs534196861 |
45 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs985345461 CA125018636 |
46 | K>E | No |
ClinGen TOPMed |
|
|
CA3371115 rs759867210 |
46 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs765367103 CA3371116 |
46 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360634722 rs1428163183 |
48 | A>V | No |
ClinGen gnomAD |
|
|
rs1169705753 CA360634714 |
49 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 50 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747955728 CA3371113 |
50 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747955728 CA3371112 VAR_041235 COSM1059738 |
50 | A>T | endometrium Variant assessed as Somatic; 4.636e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1356791051 CA360634710 |
50 | A>V | No |
ClinGen TOPMed |
|
|
rs774231170 CA3371111 |
52 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA360634695 rs1473191960 |
52 | F>L | No |
ClinGen gnomAD |
|
|
rs774231170 CA360634697 |
52 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA360634679 rs1269257433 |
54 | E>D | No |
ClinGen TOPMed |
|
|
rs1221370319 CA360634681 |
54 | E>G | No |
ClinGen TOPMed |
|
|
CA3371108 rs199613682 |
58 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745469147 CA3371106 |
59 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360634650 rs1319841062 |
59 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1580371446 CA360634639 |
60 | E>D | No |
ClinGen Ensembl |
|
|
CA360634634 rs1228371397 |
61 | I>T | No |
ClinGen gnomAD |
|
|
rs1286026401 CA360634621 |
63 | I>F | No |
ClinGen gnomAD |
|
|
CA3371104 rs143941919 |
66 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360634596 rs1308999412 |
67 | L>V | No |
ClinGen gnomAD |
|
|
rs752014753 CA3371103 |
70 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs977830166 CA125018577 |
71 | S>Y | No |
ClinGen Ensembl |
|
|
CA3371102 rs749240107 |
72 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA360634547 rs1323542045 |
74 | K>* | No |
ClinGen gnomAD |
|
|
rs752718200 CA3371100 |
75 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3371101 rs569282193 |
75 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3371099 rs765292079 |
76 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550752546 CA3371098 |
77 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs776861012 CA3371097 |
78 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs761565170 CA3371095 |
80 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774179911 CA3371094 |
81 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1265709129 CA360634486 |
83 | H>Q | No |
ClinGen gnomAD |
|
|
CA3371092 VAR_041236 rs55930004 |
83 | H>Y | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA360634481 rs1227305011 |
84 | G>D | No |
ClinGen gnomAD |
|
|
rs775305117 CA3371091 |
87 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA360634463 rs1379953128 |
87 | Y>H | No |
ClinGen TOPMed |
|
|
CA3371089 rs780965734 |
88 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360634456 rs1225813372 |
88 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs370311657 CA3371087 |
89 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747368107 CA3371086 |
90 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396714556 CA360634437 |
91 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs755041373 CA3371082 |
93 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373083902 COSM268098 CA3371083 COSM268099 |
93 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755041373 CA3371081 |
93 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760943989 CA3371079 |
95 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs760943989 CA3371078 |
95 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs751349054 CA3371077 |
95 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
COSM1230727 CA3371075 rs762679921 |
97 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs780970056 CA125018336 |
99 | L>F | No |
ClinGen gnomAD |
|
|
CA360634380 rs560177454 |
100 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769659609 CA3371073 |
100 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360634375 rs1379923515 |
101 | L>* | No |
ClinGen gnomAD |
|
| TCGA novel | 102 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 102 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360634349 rs770706524 |
105 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770706524 CA3371070 |
105 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201361921 CA3371071 |
105 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3371069 rs368990432 |
109 | H>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA125018297 rs368990432 |
109 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 110 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360634309 COSM3696869 COSM3696868 rs1290786566 |
112 | E>K | large_intestine Variant assessed as Somatic; 4.633e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1464743569 CA360634304 |
112 | E>V | No |
ClinGen gnomAD |
|
|
CA3371067 rs188476689 |
114 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3371066 rs568715339 |
114 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568715339 CA360634292 |
114 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436396327 CA360634250 |
120 | L>V | No |
ClinGen gnomAD |
|
|
CA360634230 rs1580371087 |
123 | A>S | No |
ClinGen Ensembl |
|
|
CA360634220 rs1187882254 |
124 | I>M | No |
ClinGen gnomAD |
|
|
CA125018207 rs1041706432 |
127 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA360634195 rs1263228854 |
128 | H>D | No |
ClinGen gnomAD |
|
|
CA3371063 rs753900877 |
129 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360634188 rs753900877 |
129 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 132 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3371059 rs556130601 |
132 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3371058 rs556130601 |
132 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM201407 COSM201406 rs1308092663 CA360634162 |
133 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs977695941 CA125018122 |
135 | R>Q | No |
ClinGen Ensembl |
|
|
rs369972958 COSM1230726 CA3371056 |
135 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377172387 CA360634139 |
137 | L>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs377172387 CA125018093 |
137 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3371054 rs759461458 |
138 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs930826619 CA125018065 |
139 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360634104 rs1336803872 |
140 | D>E | No |
ClinGen TOPMed |
|
|
rs573427120 CA3371052 |
141 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1389254422 CA360634073 |
143 | L>V | No |
ClinGen TOPMed |
|
|
CA360634034 rs1167817034 |
146 | K>E | No |
ClinGen gnomAD |
|
|
CA3371049 rs369016859 |
146 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 147 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374780694 CA360633977 |
150 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1374780694 CA360633979 |
150 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1254480524 CA360633963 |
151 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3371048 rs367834917 |
152 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3371045 CA360633920 rs779203447 |
154 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs748523386 CA3371046 |
154 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3371044 rs769200502 |
156 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs749726686 CA3371043 |
156 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780562758 CA3371042 |
157 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1484287447 CA360633875 |
158 | S>P | No |
ClinGen TOPMed |
|
|
CA3371040 rs745987204 |
159 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1059732 rs576153450 CA125017975 |
160 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3371038 rs567096428 |
160 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360633847 rs567096428 |
160 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3371039 rs576153450 |
160 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA3371035 rs183589367 |
163 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3371036 rs139028259 |
163 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753776999 CA3371034 |
165 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1460045853 CA360633761 |
167 | G>D | No |
ClinGen TOPMed |
|
|
CA3371033 rs766448304 |
168 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360633750 rs370626526 |
168 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1230728 COSM1739150 CA3371032 rs370626526 |
168 | R>Q | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs772894135 CA3371031 |
169 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1166574951 CA360633748 |
169 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360633736 rs1580370770 |
170 | A>T | No |
ClinGen Ensembl |
|
|
CA3371030 rs374634260 |
170 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3371028 rs200163161 |
172 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs906276297 CA125017862 |
178 | S>* | No |
ClinGen TOPMed |
|
|
rs201103634 COSM201404 CA3371024 COSM201405 |
180 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs757364627 CA3371021 |
181 | Y>C | No |
ClinGen ExAC |
|
|
CA3371020 rs373888440 |
182 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3371019 rs755285810 |
182 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360633551 rs1350023038 |
184 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA125017831 rs996911846 |
186 | V>L | No |
ClinGen gnomAD |
|
|
CA360633463 rs1337335706 |
191 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766393226 CA3371016 |
193 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368448367 CA125017807 |
194 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA360633414 rs1413756112 |
195 | K>Q | No |
ClinGen gnomAD |
|
|
rs201922356 CA3371015 |
196 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3371013 rs560296208 |
198 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA360633378 rs560296208 |
198 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 200 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158806587 CA360633324 |
201 | S>N | No |
ClinGen gnomAD |
|
|
rs1193489777 CA360633289 |
204 | V>L | No |
ClinGen gnomAD |
|
|
rs1193489777 CA360633292 |
204 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360633269 rs1561570065 |
206 | L>F | No |
ClinGen Ensembl |
|
|
CA3371006 rs200685350 |
208 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3371005 rs200685350 |
208 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1254257301 CA360633238 |
209 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs746310690 CA3371004 |
211 | C>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1432512 CA3371002 rs770870954 |
212 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3370999 rs772467727 |
217 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780060193 CA3370997 |
220 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1363864617 CA360633083 |
221 | I>M | No |
ClinGen gnomAD |
|
|
CA360633091 rs1432198740 |
221 | I>V | No |
ClinGen gnomAD |
|
|
CA3370996 rs755977554 |
225 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs562314478 CA3370995 |
226 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756692400 CA3370993 |
226 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3370994 rs756692400 |
226 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360633025 rs1171184810 |
227 | I>V | No |
ClinGen gnomAD |
|
|
CA360632987 rs1424085044 |
230 | E>V | No |
ClinGen TOPMed |
|
|
CA3370992 rs373430280 |
232 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs192780356 CA3370991 COSM1432509 COSM73101 |
232 | R>H | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA360632966 rs192780356 |
232 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA125017665 rs373430280 |
232 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs55940513 CA3370989 |
233 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs55940513 CA3370988 VAR_041237 |
233 | V>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs759971263 CA3370987 |
234 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1275705891 CA360632932 |
236 | P>L | No |
ClinGen Ensembl |
|
|
CA360632933 rs1199639514 |
236 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
VAR_041238 COSM1268817 rs55738530 CA3370986 |
237 | R>C | oesophagus large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs573310968 CA3370985 |
237 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs573310968 CA125017621 |
237 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 238 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360632910 rs1226086355 |
240 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3370984 rs760645008 |
242 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773395049 CA3370983 |
242 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1315508196 CA360632895 |
243 | G>S | No |
ClinGen TOPMed |
|
|
CA360632887 rs1333153247 |
244 | E>A | No |
ClinGen gnomAD |
|
|
rs748314371 CA3370981 |
244 | E>D | No |
ClinGen ExAC TOPMed |
|
|
rs540913761 CA3370982 |
244 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA360632889 rs540913761 |
244 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1368178364 CA360632875 |
246 | K>Q | No |
ClinGen gnomAD |
|
|
rs1414498194 CA360632871 |
246 | K>R | No |
ClinGen gnomAD |
|
|
rs769662141 CA3370980 |
247 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3370977 rs780970776 |
248 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3370978 rs780970776 |
248 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3370976 rs200090313 |
249 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1269358083 CA360632842 |
251 | H>Y | No |
ClinGen TOPMed |
|
|
CA3370975 rs751027729 |
253 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200978152 CA3370974 |
254 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360632811 rs1476459935 |
255 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360632803 rs752300335 |
256 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125017525 rs997345287 COSM201402 COSM201403 |
256 | D>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1561569835 CA360632801 |
257 | V>I | No |
ClinGen Ensembl |
|
|
CA360632792 rs1580370092 |
258 | N>T | No |
ClinGen Ensembl |
|
|
rs754276272 CA3370970 |
259 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754276272 CA3370969 |
259 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764903788 CA3370971 |
259 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 260 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535839960 CA360632782 |
260 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1432506 CA3370968 rs535839960 |
260 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA125017431 rs200084781 |
261 | L>F | No |
ClinGen Ensembl |
|
|
CA360632778 rs1283199052 |
261 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1390127819 CA360632771 |
262 | H>P | No |
ClinGen gnomAD |
|
|
CA360632774 rs1233531585 |
262 | H>Y | No |
ClinGen gnomAD |
|
|
rs370148342 CA360632756 |
264 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773858136 CA360632761 |
264 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773858136 CA3370966 |
264 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3370963 rs774673658 |
265 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3370964 rs762006295 |
265 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1411721687 CA360632746 |
266 | I>F | No |
ClinGen gnomAD |
|
|
rs898064599 CA125017367 |
266 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs768971961 CA3370962 |
267 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA125017361 rs1008373434 |
267 | L>R | No |
ClinGen Ensembl |
|
|
rs745637018 CA3370961 |
268 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA125017325 rs776557637 |
270 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3370960 rs776557637 |
270 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360632718 rs1233337513 |
270 | C>W | No |
ClinGen gnomAD |
|
|
rs770638043 CA3370959 |
274 | P>A | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 275 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 276 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360632678 rs1404433291 |
276 | A>T | No |
ClinGen gnomAD |
|
|
CA3370957 rs375756830 |
277 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3370956 rs373083123 |
277 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA125017283 rs373083123 |
277 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3370955 rs373083123 |
277 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3370958 rs375756830 |
277 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA360632669 rs1211740915 |
278 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs778511464 CA3370954 |
279 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 279 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3370953 rs201452729 |
280 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs867839367 CA125017248 |
281 | S>F | No |
ClinGen Ensembl |
|
|
CA360632651 rs1185232170 |
282 | V>M | No |
ClinGen gnomAD |
|
|
CA3370951 rs766698338 |
283 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs756447462 CA3370950 |
285 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs369078372 CA3370948 |
285 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761963339 CA3370947 |
286 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125017202 rs937665329 |
286 | K>N | No |
ClinGen Ensembl |
|
|
CA3370943 rs775591445 |
287 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376961614 CA3370946 |
287 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376961614 CA3370945 |
287 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_041239 rs34696815 CA3370942 |
288 | G>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs199827802 CA3370941 |
289 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1157247217 CA360632607 |
289 | E>V | No |
ClinGen gnomAD |
|
|
CA3370940 rs773106705 |
290 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1352960607 CA360632593 |
291 | S>C | No |
ClinGen TOPMed |
|
|
CA3370938 rs747639144 |
292 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3370939 rs369630791 |
292 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs11953478 VAR_041240 CA3370936 |
293 | G>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA125017107 rs868567777 |
293 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA360632583 rs1193688090 |
294 | T>A | No |
ClinGen gnomAD |
|
|
CA3370934 rs754249824 |
294 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3370935 rs754249824 |
294 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3370933 rs754249824 |
294 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125017084 rs61736967 |
296 | P>L | No |
ClinGen TOPMed |
|
|
CA360632570 rs61736967 |
296 | P>R | No |
ClinGen TOPMed |
|
|
COSM99218 COSM99029 CA3370932 rs201394403 |
296 | P>S | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1225996392 CA360632563 |
297 | L>F | No |
ClinGen gnomAD |
|
|
CA360632566 rs1580369660 |
297 | L>S | No |
ClinGen Ensembl |
|
|
CA3370930 rs757905729 |
298 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA3370929 rs752118875 |
299 | T>A | No |
ClinGen ExAC |
|
|
CA360632552 rs764177231 |
299 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3370928 rs764177231 |
299 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3370926 rs374502735 |
300 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA125017034 rs952474850 |
300 | P>L | No |
ClinGen TOPMed |
|
|
rs374502735 CA360632549 |
300 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1059724 rs371461523 CA3370924 COSM1059725 |
301 | E>K | Variant assessed as Somatic; 4.644e-05 impact. endometrium central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3370923 rs773045297 |
302 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1453340466 CA360632527 |
304 | S>P | No |
ClinGen gnomAD |
|
|
rs896800905 CA125017001 |
306 | K>E | No |
ClinGen TOPMed |
|
|
rs771990661 CA3370922 |
306 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs748779940 CA3370919 |
307 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA3370920 rs774167263 |
307 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3370918 rs748779940 |
307 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1429278424 CA360632501 |
308 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 308 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA125016957 rs367672503 |
309 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367672503 CA3370917 |
309 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 310 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769629300 CA360632487 |
311 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360632482 rs1332155285 |
311 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3370916 rs769629300 |
311 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360632475 rs1245675809 |
313 | E>K | No |
ClinGen gnomAD |
|
|
CA360632463 rs1267891011 |
314 | P>R | No |
ClinGen TOPMed |
|
|
CA3370914 rs781636494 |
316 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA125016943 rs1009118857 |
316 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs919931737 CA125016929 |
317 | E>D | No |
ClinGen Ensembl |
|
|
CA125016936 rs561351274 |
317 | E>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3370913 rs757711235 |
318 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1346199372 CA360632442 |
318 | A>T | No |
ClinGen gnomAD |
|
|
CA360632439 rs757711235 |
318 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3370911 rs778176934 |
319 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3370910 rs758477399 |
320 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3370909 rs752771711 |
321 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1221435950 CA360632426 |
321 | Q>K | No |
ClinGen TOPMed |
|
|
rs1362892313 CA360632418 |
322 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA360632390 rs1445487825 |
326 | T>A | No |
ClinGen gnomAD |
|
|
CA125016877 rs552417104 |
326 | T>I | No |
ClinGen Ensembl |
|
|
CA360632371 rs374009361 |
329 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374009361 CA3370904 |
329 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3370903 rs761618235 |
330 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761618235 CA3370902 |
330 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3370901 rs774303063 |
331 | T>K | No |
ClinGen ExAC |
|
|
rs1390920172 CA360632351 |
332 | A>V | No |
ClinGen gnomAD |
|
|
CA360632349 rs1428646697 |
333 | M>V | No |
ClinGen gnomAD |
|
|
rs1163024592 CA360632327 |
335 | M>I | No |
ClinGen TOPMed |
|
|
rs36057481 CA3370897 |
336 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3370898 rs774930580 |
336 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA360632324 rs774930580 |
336 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs36057481 CA360632322 |
336 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3370895 rs201419068 |
338 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360632309 rs1212123964 |
338 | Q>P | No |
ClinGen gnomAD |
|
|
CA3370894 rs771385288 |
339 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360632295 rs1297906733 |
340 | E>D | No |
ClinGen gnomAD |
|
|
CA3370892 rs778324817 |
340 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125016780 rs1020368221 |
341 | I>M | No |
ClinGen TOPMed |
|
|
rs758890105 CA3370891 |
343 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752814803 CA3370890 |
343 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA360632262 rs1012250452 |
346 | S>I | No |
ClinGen TOPMed |
|
|
rs1012250452 CA125016768 |
346 | S>N | No |
ClinGen TOPMed |
|
|
CA3370888 rs755060361 |
346 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs754009944 CA3370887 |
347 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766617453 CA3370886 |
347 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3370884 rs199777349 |
348 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3370885 rs199777349 |
348 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA125016701 rs377747657 |
349 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377747657 CA3370882 |
349 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764791999 CA3370880 |
350 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA360632236 CA360632234 rs1157297538 |
351 | M>I | No |
ClinGen TOPMed |
|
|
rs776394499 CA125016691 |
351 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3370878 rs776394499 COSM448446 |
351 | M>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 353 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3370876 rs747389790 |
354 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA360632197 rs374467859 |
357 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3370873 rs374467859 |
357 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3370872 rs374467859 |
357 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772486035 CA125016637 |
357 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3370874 rs772486035 |
357 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360632192 rs1234853825 |
358 | P>R | No |
ClinGen gnomAD |
|
|
CA360632196 rs1294189948 |
358 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756349312 CA3370868 |
359 | Q>E | No |
ClinGen ExAC gnomAD |
|
| rs747842861 | 359 | Q>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs747842861 | 359 | Q>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs186917814 CA3370864 |
360 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs949092520 CA125016576 |
360 | Q>R | No |
ClinGen TOPMed |
|
|
rs866652443 CA360632159 CA125016569 |
363 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3370863 rs372882864 |
364 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA360632152 rs774488206 |
365 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3370860 rs774488206 |
365 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3370861 rs765308693 |
365 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360632150 rs1181613335 |
366 | A>T | No |
ClinGen gnomAD |
1 associated diseases with Q9BXA7
[MIM: 616871]: Myeloproliferative/lymphoproliferative neoplasms, familial (MPLPF)
A familial cancer predisposition syndrome with incomplete penetrance, characterized by increased susceptibility to myeloid neoplasms and rarely to lymphoid malignancies. MPLPF inheritance is autosomal dominant. {ECO:0000269|PubMed:25920683, ECO:0000269|PubMed:26712909}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- A familial cancer predisposition syndrome with incomplete penetrance, characterized by increased susceptibility to myeloid neoplasms and rarely to lymphoid malignancies. MPLPF inheritance is autosomal dominant. {ECO:0000269|PubMed:25920683, ECO:0000269|PubMed:26712909}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| acrosomal vesicle | A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome. |
| motile cilium | A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| protein-containing complex binding | Binding to a macromolecular complex. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| spermatid development | The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure. |
69 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q02066 | Abscisic acid-inducible protein kinase | Triticum aestivum (Wheat) | PR | |
| Q5GLH2 | TRIB2 | Tribbles homolog 2 | Bos taurus (Bovine) | SS |
| Q0VCE3 | TRIB3 | Tribbles homolog 3 | Bos taurus (Bovine) | SS |
| Q3SZW1 | TSSK1B | Testis-specific serine/threonine-protein kinase 1 | Bos taurus (Bovine) | PR |
| Q92519 | TRIB2 | Tribbles homolog 2 | Homo sapiens (Human) | SS |
| Q96RU7 | TRIB3 | Tribbles homolog 3 | Homo sapiens (Human) | PR |
| Q96RU8 | TRIB1 | Tribbles homolog 1 | Homo sapiens (Human) | EV |
| Q15831 | STK11 | Serine/threonine-protein kinase STK11 | Homo sapiens (Human) | PR |
| 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 |
| O14757 | CHEK1 | Serine/threonine-protein kinase Chk1 | Homo sapiens (Human) | EV |
| Q8IWQ3 | BRSK2 | Serine/threonine-protein kinase BRSK2 | Homo sapiens (Human) | PR |
| Q8TDC3 | BRSK1 | Serine/threonine-protein kinase BRSK1 | Homo sapiens (Human) | SS |
| Q14680 | MELK | Maternal embryonic leucine zipper kinase | Homo sapiens (Human) | EV |
| P57059 | SIK1 | Serine/threonine-protein kinase SIK1 | Homo sapiens (Human) | PR |
| Q9NRH2 | SNRK | SNF-related serine/threonine-protein kinase | Homo sapiens (Human) | SS |
| O60285 | NUAK1 | NUAK family SNF1-like kinase 1 | Homo sapiens (Human) | PR |
| Q13131 | PRKAA1 | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | Homo sapiens (Human) | EV |
| Q8K4K3 | Trib2 | Tribbles homolog 2 | Mus musculus (Mouse) | SS |
| Q8BRK8 | Prkaa2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Mus musculus (Mouse) | SS |
| Q8K4K2 | Trib3 | Tribbles homolog 3 | Mus musculus (Mouse) | SS |
| Q61846 | Melk | Maternal embryonic leucine zipper kinase | 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 |
| O54863 | Tssk2 | Testis-specific serine/threonine-protein kinase 2 | Mus musculus (Mouse) | PR |
| Q61241 | Tssk1b | Testis-specific serine/threonine-protein kinase 1 | Mus musculus (Mouse) | PR |
| Q28948 | PRKAA2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Sus scrofa (Pig) | SS |
| Q9WTQ6 | Trib3 | Tribbles homolog 3 | Rattus norvegicus (Rat) | 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 |
| 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 |
| 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 |
| MDDAAVLKRR | GYLLGINLGE | GSYAKVKSAY | SERLKFNVAI | KIIDRKKAPA | DFLEKFLPRE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IEILAMLNHC | SIIKTYEIFE | TSHGKVYIVM | ELAVQGDLLE | LIKTRGALHE | DEARKKFHQL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SLAIKYCHDL | DVVHRDLKCD | NLLLDKDFNI | KLSDFSFSKR | CLRDDSGRMA | LSKTFCGSPA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YAAPEVLQGI | PYQPKVYDIW | SLGVILYIMV | CGSMPYDDSN | IKKMLRIQKE | HRVNFPRSKH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LTGECKDLIY | HMLQPDVNRR | LHIDEILSHC | WMQPKARGSP | SVAINKEGES | SRGTEPLWTP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EPGSDKKSAT | KLEPEGEAQP | QAQPETKPEG | TAMQMSRQSE | ILGFPSKPST | METEEGPPQQ |
| PPETRAQ |