O43293
PR
Gene name |
DAPK3 (ZIPK) |
Protein name |
Death-associated protein kinase 3 |
Names |
DAP kinase 3, DAP-like kinase, Dlk, MYPT1 kinase, Zipper-interacting protein kinase, ZIP-kinase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1613 |
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
160-182 (Activation loop from InterPro)
Target domain |
13-275 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
8 structures for O43293
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1YRP | X-ray | 310 A | A/B | 1-277 | PDB |
| 2J90 | X-ray | 200 A | A/B | 9-289 | PDB |
| 3BHY | X-ray | 124 A | A | 9-289 | PDB |
| 3BQR | X-ray | 175 A | A | 9-289 | PDB |
| 5A6N | X-ray | 170 A | A/B | 9-289 | PDB |
| 5A6O | X-ray | 160 A | A/B | 9-289 | PDB |
| 5VJA | X-ray | 246 A | A/B/C/D | 9-289 | PDB |
| AF-O43293-F1 | Predicted | AlphaFoldDB |
419 variants for O43293
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA304434593 rs1051045261 |
3 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403385512 rs1051045261 |
3 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA403385453 rs1349875953 |
6 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9088436 rs772025209 |
7 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9088437 rs766140185 |
7 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775366216 CA9088432 |
12 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9088431 rs760074401 |
13 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403385196 rs1178057431 |
13 | Y>F | No |
ClinGen gnomAD |
|
|
CA403385166 rs1410563097 |
14 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA304434591 rs920868227 |
15 | M>I | No |
ClinGen Ensembl |
|
|
CA304434590 rs912519004 |
16 | G>W | No |
ClinGen TOPMed |
|
|
rs1471426710 CA403385027 |
21 | S>G | No |
ClinGen gnomAD |
|
|
rs1223378833 CA403382554 |
22 | G>S | No |
ClinGen gnomAD |
|
|
CA403382536 rs1475150741 |
23 | Q>* | No |
ClinGen TOPMed |
|
|
CA403382503 rs1490871180 |
25 | A>S | No |
ClinGen gnomAD |
|
|
rs1293797045 CA403382486 |
26 | I>F | No |
ClinGen gnomAD |
|
|
rs1185966975 CA403382484 |
26 | I>N | No |
ClinGen TOPMed |
|
|
rs763315165 CA9088388 CA403382472 |
27 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403382458 rs139511601 |
28 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs971367639 CA304432754 |
28 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs139511601 CA9088386 |
28 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1221336241 CA9088384 |
29 | K>E | No |
ClinGen TOPMed |
|
|
CA403382442 rs1221336241 |
29 | K>Q | No |
ClinGen TOPMed |
|
|
rs765486615 CA9088381 |
30 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA9088379 rs199986718 |
31 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA304432734 COSM996225 rs991187490 |
31 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs199986718 CA9088380 |
31 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403382400 rs1173048874 |
32 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA403382385 rs1254512933 |
34 | G>R | No |
ClinGen TOPMed |
|
|
CA9088375 rs768239001 |
35 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403382373 rs1249724968 |
36 | G>D | No |
ClinGen gnomAD |
|
|
CA9088373 rs774941611 |
36 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA403382328 rs1251653470 |
42 | K>N | No |
ClinGen gnomAD |
|
|
CA403382250 rs1310239166 |
48 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9088371 rs745771864 |
48 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403382232 rs1223752744 |
49 | L>Q | No |
ClinGen gnomAD |
|
|
rs374470911 CA304432711 |
50 | S>P | No |
ClinGen ESP |
|
|
rs374470911 CA304432714 |
50 | S>T | No |
ClinGen ESP |
|
|
CA304432707 rs890970969 |
51 | S>C | No |
ClinGen TOPMed |
|
|
rs199653811 COSM711521 CA9088369 |
52 | S>I | lung Variant assessed as Somatic; 0.0 impact. bone [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1196349982 CA403382160 |
53 | R>P | No |
ClinGen gnomAD |
|
|
rs1196349982 CA403382158 |
53 | R>Q | No |
ClinGen gnomAD |
|
|
CA403382163 rs1374744334 |
53 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748443298 CA9088368 |
54 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 56 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755208227 CA9088366 |
56 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA403382103 rs755208227 |
56 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA9088367 rs781566656 |
56 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1409833062 CA403382084 |
57 | S>N | No |
ClinGen gnomAD |
|
|
rs533370572 CA403382067 |
58 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs533370572 CA9088363 |
58 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779973024 CA9088364 |
58 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1275021134 CA403382036 |
60 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA403381999 rs765691185 |
61 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304432693 rs150676155 |
62 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150676155 CA9088360 |
62 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754136673 CA9088359 |
63 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA403381970 rs754136673 |
63 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA304432683 rs1019141831 |
64 | E>G | No |
ClinGen TOPMed |
|
|
CA9088358 rs763768538 |
65 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9088357 rs547931889 |
66 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774146708 CA9088353 |
69 | R>Q | Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759587748 CA9088354 |
69 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947755077 CA304432653 |
72 | R>Q | No |
ClinGen TOPMed |
|
|
rs371231370 CA9088351 |
72 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141934386 CA9088350 |
73 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403381812 rs527761712 |
74 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403381808 rs527761712 |
74 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527761712 CA9088349 |
74 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9088348 rs747200424 |
75 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 75 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403381747 rs1274463588 |
77 | I>T | No |
ClinGen gnomAD |
|
|
CA403381723 rs1454762416 |
78 | T>I | No |
ClinGen gnomAD |
|
|
rs1599180655 CA403381736 |
78 | T>P | No |
ClinGen Ensembl |
|
|
rs1158244034 CA403381691 |
79 | L>Q | No |
ClinGen gnomAD |
|
|
CA403381669 rs1365609533 |
80 | H>P | No |
ClinGen gnomAD |
|
|
CA304432633 rs960961126 |
81 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM1525368 CA403381575 rs1184011576 |
84 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs757722900 CA9088343 |
85 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1350688281 CA403381471 |
87 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs755805746 CA9088341 |
88 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9088339 rs371046687 COSM228212 |
89 | V>M | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs767115325 CA9088338 |
90 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439250668 CA403381419 |
91 | L>F | No |
ClinGen TOPMed |
|
|
rs758986651 CA9088337 |
91 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs908357745 CA304432598 |
94 | E>* | No |
ClinGen Ensembl |
|
|
CA403381311 rs142199588 |
96 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs142199588 CA9088333 |
96 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200475430 CA9088332 |
97 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1214333484 CA403381235 |
98 | G>D | No |
ClinGen TOPMed |
|
|
rs1446173155 CA403381227 |
99 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1272847566 CA403381199 |
100 | E>* | No |
ClinGen TOPMed |
|
|
rs745966899 CA9088326 |
104 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs369395432 CA9088325 |
106 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403380976 rs1293077934 |
109 | E>K | No |
ClinGen gnomAD |
|
|
rs1248808528 CA403380941 |
110 | S>L | No |
ClinGen gnomAD |
|
| VAR_040438 | 112 | T>M | a colorectal adenocarcinoma sample; somatic mutation; greatly reduces kinase activity, increases cell proliferation and cell survival [UniProt] | No | UniProt |
|
CA9088321 rs756460255 |
114 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA403380830 rs1181116211 |
115 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403380762 rs1391889158 |
118 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 118 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750920877 CA9088319 |
121 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304432553 rs750920877 |
121 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9088318 rs754606988 |
122 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9088316 rs763048239 CA304432543 |
125 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9088317 rs751075936 |
125 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239129800 CA403380567 COSM996221 |
126 | G>D | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs773267403 CA403380576 |
126 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9088314 rs773267403 |
126 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9088312 rs562811984 |
127 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403380534 rs1196866145 |
128 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA403380542 rs1374397443 |
128 | H>Y | No |
ClinGen gnomAD |
|
|
CA403380469 rs1332708329 |
131 | H>Q | No |
ClinGen TOPMed |
|
|
CA9088309 rs746080627 |
132 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs369564445 CA9088308 |
134 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770995408 CA9088307 |
134 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369564445 CA403380440 |
134 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403380428 rs1196704334 |
135 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9088304 rs756550520 |
136 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs756550520 CA304432508 |
136 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1475478078 CA403380399 |
136 | A>V | No |
ClinGen TOPMed |
|
|
rs1599180451 CA403380346 |
139 | D>A | No |
ClinGen Ensembl |
|
|
rs527836528 CA304432346 |
142 | P>L | No |
ClinGen 1000Genomes |
|
|
rs906658031 CA304432342 |
145 | I>T | No |
ClinGen Ensembl |
|
|
rs1383272095 CA403380023 |
150 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 151 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762281940 CA9088264 |
152 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368786626 CA9088265 CA304432330 |
152 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368786626 CA9088266 |
152 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9088263 rs777206615 |
154 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA403379859 rs1383887226 |
154 | N>S | No |
ClinGen gnomAD |
|
|
rs1445557672 COSM1564505 CA403379848 |
155 | P>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs747408963 CA9088261 |
156 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs375789466 CA9088260 |
156 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1236942881 CA403379743 |
160 | I>V | No |
ClinGen TOPMed |
|
| VAR_040439 | 161 | D>N | an ovarian mucinous carcinoma sample; somatic mutation; greatly reduces kinase activity, increases cell proliferation and cell survival [UniProt] | No | UniProt |
|
rs778633982 CA403379675 |
162 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221656403 CA403379661 |
163 | G>D | No |
ClinGen gnomAD |
|
|
CA403379674 rs1289429252 |
163 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403379595 rs1438429756 |
165 | A>S | No |
ClinGen TOPMed |
|
|
COSM1392709 CA403379608 rs1438429756 |
165 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA9088255 rs200205146 |
165 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403379556 rs1360892164 |
166 | H>R | No |
ClinGen gnomAD |
|
|
rs371469059 CA304432292 |
167 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs945781725 CA304432280 |
169 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9088252 rs752515134 |
169 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA403379468 rs1599179941 |
170 | A>S | No |
ClinGen Ensembl |
|
|
rs149596948 COSM996215 CA9088251 |
170 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3707126 CA403379438 rs1351960075 |
171 | G>A | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA9088249 rs765316109 |
172 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9088247 rs761954414 |
173 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 174 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304432268 rs999413567 |
175 | K>R | No |
ClinGen TOPMed |
|
|
CA9088246 rs776532339 |
176 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 177 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403378956 rs1202135950 |
185 | A>P | No |
ClinGen gnomAD |
|
|
CA403378960 rs1202135950 |
185 | A>T | No |
ClinGen gnomAD |
|
|
rs1242077238 CA403377476 |
186 | P>L | No |
ClinGen gnomAD |
|
|
rs1459827902 CA403377480 |
186 | P>S | No |
ClinGen gnomAD |
|
|
rs1203909241 CA403377431 |
188 | I>M | No |
ClinGen gnomAD |
|
|
rs370820532 CA9088221 |
193 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201511494 CA9088222 |
193 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769277616 CA9088219 |
195 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1337566793 CA403377203 |
198 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1288417478 CA403377155 |
200 | M>I | No |
ClinGen gnomAD |
|
|
rs750753947 CA9088185 |
203 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947452629 CA304431891 |
204 | G>S | No |
ClinGen TOPMed |
|
|
rs538455279 CA304431882 |
208 | Y>* | No |
ClinGen 1000Genomes gnomAD |
|
|
rs776168606 CA9088182 |
210 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776168606 CA304431876 |
210 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776168606 CA403376980 |
210 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748389948 CA9088102 |
213 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9088103 rs770186961 |
213 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA403376396 rs1222858255 |
215 | S>F | No |
ClinGen TOPMed |
|
|
rs1254949642 COSM170117 CA403376379 |
216 | P>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| VAR_040440 | 216 | P>S | a lung neuroendocrine carcinoma sample; somatic mutation; greatly reduces kinase activity, increases cell proliferation, cell adhesion and cell survival [UniProt] | No | UniProt |
|
rs780924181 CA9088101 |
217 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403376304 rs1244158137 |
221 | T>I | No |
ClinGen TOPMed |
|
|
CA9088098 rs779691953 |
222 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA403376243 rs1401557149 |
225 | T>M | No |
ClinGen gnomAD |
|
|
CA9088095 rs765017644 |
227 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1001427037 CA304430599 |
229 | I>V | No |
ClinGen TOPMed |
|
|
rs866486559 CA304430595 |
230 | S>L | No |
ClinGen Ensembl |
|
|
CA403376147 rs1438783235 |
232 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1380741681 CA403376117 |
233 | N>I | No |
ClinGen gnomAD |
|
|
rs767756142 CA9088092 |
234 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA403376077 rs1181884901 |
235 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201391109 CA9088088 |
237 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403375979 rs1354849188 |
238 | E>A | No |
ClinGen gnomAD |
|
|
rs770155589 CA9088086 |
238 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773770930 CA9088087 |
238 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403375955 rs748580973 |
239 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9088085 rs748580973 |
239 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 241 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9088081 rs200465016 |
246 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1469405529 CA403375632 |
251 | F>I | No |
ClinGen gnomAD |
|
|
rs1188528193 CA403375568 |
253 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA403375572 rs1188528193 |
253 | R>G | No |
ClinGen TOPMed |
|
|
rs745312042 CA9088079 |
253 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403375556 rs745312042 |
253 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561123866 CA304430546 |
254 | R>Q | No |
ClinGen gnomAD |
|
|
rs1456216640 CA403375550 |
254 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA403375537 rs1187817863 |
255 | L>M | No |
ClinGen gnomAD |
|
|
CA9088078 COSM1203003 rs778931557 |
257 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA403375413 rs1488926676 |
259 | D>G | No |
ClinGen gnomAD |
|
|
CA403375377 rs1160498088 |
260 | P>S | No |
ClinGen TOPMed |
|
|
COSM1392707 CA9088047 rs547931912 |
262 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs754403949 CA9088048 |
262 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9088046 rs761143911 |
265 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs775955714 CA9088045 |
265 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA403373851 rs1401820456 |
266 | I>V | No |
ClinGen gnomAD |
|
|
CA403373827 rs1404059609 |
267 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1416077220 CA403373743 |
272 | H>R | No |
ClinGen TOPMed |
|
|
CA304429505 rs878855905 |
277 | A>V | No |
ClinGen gnomAD |
|
|
CA403373548 rs1254427385 |
279 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403373544 rs1254427385 |
279 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs781570365 CA9087991 |
279 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751921245 CA9087989 |
280 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs200817833 CA9087990 |
280 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1310903922 CA403373531 |
281 | R>Q | No |
ClinGen gnomAD |
|
|
rs1207215208 CA403373533 |
281 | R>W | No |
ClinGen gnomAD |
|
|
CA9087988 rs766719686 |
282 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA403373520 rs1220124523 |
282 | N>S | No |
ClinGen gnomAD |
|
|
CA304429476 rs922141244 |
283 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403373512 rs922141244 |
283 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1355283883 CA403373499 |
284 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA403373493 rs973700357 |
284 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA304429473 rs973700357 |
284 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs201738241 CA304429458 |
285 | G>D | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9087984 rs761336141 |
286 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA403373446 rs1435087825 |
288 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9087983 rs199804056 |
288 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763980607 CA403373423 |
289 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763980607 CA9087982 |
289 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403373416 rs1438745927 |
290 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA403373413 rs760637791 |
290 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9087981 rs760637791 |
290 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA304429446 rs983531332 |
291 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9087980 rs775204534 |
292 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA403373390 rs1481999452 |
292 | P>S | No |
ClinGen gnomAD |
|
|
rs1366637247 CA403373385 |
293 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1366637247 CA403373384 |
293 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1163368959 CA403373370 |
295 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA403373371 rs1350466803 |
295 | R>W | No |
ClinGen gnomAD |
|
|
COSM3692744 CA9087978 rs745590940 |
296 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA403373363 rs1378923587 |
296 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1239907738 CA403373356 |
298 | K>E | No |
ClinGen gnomAD |
|
|
CA403373327 rs1309428329 |
301 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA304429418 rs1025063393 |
301 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA403373312 rs1378608998 |
302 | L>V | No |
ClinGen gnomAD |
|
|
rs773577945 CA9087977 |
303 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415363735 CA403373268 |
304 | E>Q | No |
ClinGen gnomAD |
|
|
CA9087976 rs770089058 |
306 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1418895563 CA403373183 |
307 | I>M | No |
ClinGen gnomAD |
|
|
CA304429406 rs759204602 |
308 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 309 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403373118 rs1160916334 |
310 | H>Y | No |
ClinGen gnomAD |
|
|
CA403373080 rs1421541590 |
311 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs910807209 CA304429385 |
313 | L>F | No |
ClinGen TOPMed |
|
|
CA403373016 rs1568189578 |
314 | P>Q | No |
ClinGen Ensembl |
|
|
CA304429381 rs866821340 |
314 | P>S | No |
ClinGen gnomAD |
|
|
CA403373000 rs1599175518 |
315 | P>S | No |
ClinGen Ensembl |
|
|
rs1034652061 CA304429371 |
316 | N>K | No |
ClinGen Ensembl |
|
|
rs958583859 CA304429372 |
316 | N>S | No |
ClinGen Ensembl |
|
|
CA403372960 rs1216259280 |
317 | N>H | No |
ClinGen gnomAD |
|
|
rs1354883758 CA403372947 |
317 | N>K | No |
ClinGen gnomAD |
|
|
CA403372717 rs1313589631 |
324 | R>C | No |
ClinGen gnomAD |
|
|
rs1235236990 CA403372712 |
324 | R>H | No |
ClinGen gnomAD |
|
|
rs1357240038 CA403372697 |
325 | F>S | No |
ClinGen gnomAD |
|
|
CA403372693 rs1357240038 |
325 | F>Y | No |
ClinGen gnomAD |
|
|
CA9087971 rs780476853 |
326 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201446546 CA9087970 |
327 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403372652 rs1385491386 |
327 | K>T | No |
ClinGen gnomAD |
|
|
CA403372604 rs1456114297 |
328 | V>A | No |
ClinGen gnomAD |
|
|
rs778568680 CA9087968 |
328 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778568680 CA9087969 |
328 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367556622 CA403372582 |
329 | L>P | No |
ClinGen gnomAD |
|
|
CA9087967 rs111719490 |
330 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs372041714 CA304429345 |
332 | A>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs372041714 CA403372475 |
332 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9087965 rs763645506 |
333 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599175443 CA403372445 |
334 | A>S | No |
ClinGen Ensembl |
|
|
rs1168837408 CA403372411 |
335 | A>V | No |
ClinGen TOPMed |
|
|
rs537660810 CA9087962 |
336 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403372276 rs1217983026 |
340 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1217983026 CA403372277 |
340 | R>G | No |
ClinGen gnomAD |
|
|
rs1389482654 CA403372187 |
343 | Q>* | No |
ClinGen gnomAD |
|
|
rs552081970 CA9087958 |
344 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552081970 CA9087957 |
344 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs900684606 CA304429319 |
344 | R>L | No |
ClinGen TOPMed |
|
|
CA403372099 rs1397582555 |
346 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA403372095 rs1170551655 |
346 | R>L | No |
ClinGen gnomAD |
|
|
rs1170551655 CA403372087 |
346 | R>Q | No |
ClinGen gnomAD |
|
|
CA403372069 rs1375304544 |
347 | R>Q | No |
ClinGen gnomAD |
|
|
rs780562643 CA9087955 |
347 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253795536 CA403372001 |
349 | C>W | No |
ClinGen gnomAD |
|
|
rs942297952 CA304429307 |
349 | C>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 350 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403371972 rs1438818645 |
350 | H>Q | No |
ClinGen gnomAD |
|
|
CA9087953 rs772529170 |
350 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9087952 rs377026101 |
351 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA304429294 rs1047724607 |
352 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1302855545 CA403371887 |
352 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs779229348 CA9087951 |
353 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756917160 CA9087950 |
355 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253014199 CA403371836 |
355 | A>V | No |
ClinGen gnomAD |
|
|
CA403371818 rs1599175328 |
357 | A>T | No |
ClinGen Ensembl |
|
|
CA9087948 rs777223988 |
357 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs181345641 CA9087947 |
358 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9087946 rs752202554 |
360 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1399175519 CA403371702 |
361 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1399175519 CA403371704 |
361 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9087943 rs559756449 |
363 | K>E | No |
ClinGen 1000Genomes ExAC |
|
|
rs546274811 CA403371621 |
363 | K>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs546274811 CA304429275 |
363 | K>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs529645237 CA9087942 |
364 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403371566 rs1195714368 |
365 | A>T | No |
ClinGen gnomAD |
|
|
rs776930359 CA9087941 |
367 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9087940 rs776930359 |
367 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439647310 CA403371493 |
368 | R>H | No |
ClinGen gnomAD |
|
|
rs560829558 CA304429265 |
368 | R>S | No |
ClinGen 1000Genomes |
|
|
rs768714914 CA9087939 |
370 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1392706 rs1380725318 CA403371424 |
371 | S>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1314662003 CA403371422 |
371 | S>N | No |
ClinGen TOPMed |
|
|
rs775516777 CA9087937 |
372 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA304429244 rs958771540 |
373 | S>G | No |
ClinGen Ensembl |
|
|
CA9087936 rs147011394 |
373 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs531962501 CA304429224 |
374 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA403371274 rs774762127 |
376 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9087934 rs774762127 |
376 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403371223 CA9087933 rs771329507 |
377 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396014271 CA403371229 |
377 | D>G | No |
ClinGen gnomAD |
|
|
CA9087932 rs199762113 |
379 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1483954115 CA403371194 |
379 | R>W | No |
ClinGen gnomAD |
|
|
CA403371179 rs1379859459 |
380 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1183205241 CA403371151 |
380 | R>S | No |
ClinGen TOPMed |
|
|
rs763032380 CA403371104 |
382 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763032380 CA9087928 |
382 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763032380 CA403371112 |
382 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9087929 rs201287470 |
382 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9087927 rs755036580 |
386 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA403370924 rs1487192345 |
388 | T>I | No |
ClinGen gnomAD |
|
|
rs200352688 CA9087925 |
389 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200352688 CA403370896 |
389 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403370840 rs758239546 COSM4131797 |
390 | A>E | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs758239546 CA9087924 |
390 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403370776 rs1232186588 |
393 | R>Q | No |
ClinGen gnomAD |
|
|
rs750145142 CA9087923 |
393 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1398529210 CA403370718 |
395 | A>G | No |
ClinGen gnomAD |
|
|
CA403370716 rs1398529210 |
395 | A>V | No |
ClinGen gnomAD |
|
|
CA403370691 rs1319192704 |
397 | E>K | No |
ClinGen gnomAD |
|
|
rs563048257 CA9087921 |
398 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 398 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775606509 CA9087920 |
399 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967919275 CA403370533 |
402 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1190048528 CA403370540 |
402 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs967919275 CA304429145 COSM1564506 |
402 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 403 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759543762 CA9087918 |
404 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1599175149 CA403370466 |
404 | L>R | No |
ClinGen Ensembl |
|
|
rs774935995 CA304429144 |
405 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774935995 CA9087917 |
405 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3357126 CA403370422 rs1212460459 |
406 | T>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA304429138 rs141435903 |
407 | S>N | No |
ClinGen ESP gnomAD |
|
|
rs749691110 CA403370332 |
408 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9087915 rs749691110 |
408 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1012048987 CA304429131 |
410 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1433365180 CA403370185 |
411 | R>C | No |
ClinGen gnomAD |
|
|
rs369672101 CA9087914 |
411 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403370146 rs769532059 |
412 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9087913 rs769532059 |
412 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304429127 rs546562367 |
412 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
| TCGA novel | 412 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403370122 rs546562367 |
412 | R>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs747786647 CA9087912 |
415 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs754551409 CA9087911 |
415 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754551409 CA9087910 |
415 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780075017 CA9087908 |
419 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403369816 rs1476280022 |
419 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1476280022 CA403369809 |
419 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1034377541 CA304429105 |
421 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9087906 rs750281566 |
422 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1216630504 CA403369664 |
424 | A>T | No |
ClinGen gnomAD |
|
|
rs1365999138 CA403369651 |
424 | A>V | No |
ClinGen gnomAD |
|
|
rs1376326104 CA403369628 |
425 | K>T | No |
ClinGen TOPMed |
|
|
rs1302940665 CA403369605 |
426 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA304429099 rs77999895 |
426 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403369611 rs1302940665 |
426 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403369592 rs1441964573 |
426 | Q>R | No |
ClinGen gnomAD |
|
|
CA403369581 rs1329355549 |
427 | V>I | No |
ClinGen gnomAD |
|
|
rs1461551356 CA403369555 |
428 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1025302295 CA304429090 |
429 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1025302295 CA403369550 COSM1525371 |
429 | S>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA403369498 rs1393085951 |
431 | M>I | No |
ClinGen gnomAD |
|
|
rs1172604839 CA403369488 |
432 | R>C | No |
ClinGen gnomAD |
|
|
CA403369477 rs1454408768 |
432 | R>H | No |
ClinGen gnomAD |
|
|
CA403369482 rs1454408768 |
432 | R>L | No |
ClinGen gnomAD |
|
|
rs774254988 CA9087900 |
435 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs774254988 CA403369419 |
435 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA403369390 rs1207319807 |
436 | D>G | No |
ClinGen gnomAD |
|
|
rs766945853 CA9087899 |
436 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs149066820 CA9087898 |
437 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9087896 rs376921546 |
438 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376921546 CA9087895 |
438 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9087893 rs554401220 |
439 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9087892 rs746569597 |
440 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1408382059 CA403369160 |
446 | L>P | No |
ClinGen gnomAD |
|
|
CA403369141 rs1373581291 |
447 | Q>R | No |
ClinGen gnomAD |
|
|
CA403369126 rs1312001964 |
448 | G>D | No |
ClinGen gnomAD |
|
|
rs1435109615 CA403369116 |
449 | V>L | No |
ClinGen gnomAD |
|
|
rs1435109615 CA403369119 |
449 | V>M | No |
ClinGen gnomAD |
|
|
CA403369084 rs1205598377 |
450 | E>D | No |
ClinGen TOPMed |
|
|
CA304429046 rs373965880 |
450 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1037470105 CA403369061 |
451 | C>* | No |
ClinGen TOPMed |
|
|
CA403369058 rs1037470105 |
451 | C>W | No |
ClinGen TOPMed |
|
|
rs1156561306 CA403369053 |
452 | G>R | No |
ClinGen gnomAD |
|
|
CA9087891 rs779410086 COSM394684 |
452 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA403369010 COSM1203002 rs1391844858 |
454 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA403369003 rs1179438707 |
454 | R>H | No |
ClinGen gnomAD |
No associated diseases with O43293
4 regional properties for O43293
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 | |
5 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. |
| 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. |
| PML body | A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cAMP response element binding protein binding | Binding to a cAMP response element binding protein (a CREB protein). |
| identical protein binding | Binding to an identical protein or proteins. |
| leucine zipper domain binding | Binding to a leucine zipper domain, a protein secondary structure exhibiting a periodic repetition of leucine residues at every seventh position over a distance covering eight helical turns. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| 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. |
| small GTPase binding | Binding to a small monomeric GTPase. |
22 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| apoptotic signaling pathway | The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. |
| cellular response to interferon-gamma | 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 interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far. |
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| 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. |
| negative regulation of translation | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of canonical Wnt signaling pathway | Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of actin cytoskeleton reorganization | Any process that modulates the frequency, rate or extent of actin cytoskeleton reorganization. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
| 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 cell motility | Any process that modulates the frequency, rate or extent of cell motility. |
| regulation of cell shape | Any process that modulates the surface configuration of a cell. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of focal adhesion assembly | Any process that modulates the frequency, rate or extent of focal adhesion formation, the establishment and maturation of focal adhesions. |
| regulation of mitotic cell cycle | Any process that modulates the rate or extent of progress through the mitotic cell cycle. |
| regulation of mitotic nuclear division | Any process that modulates the frequency, rate or extent of mitosis. |
| regulation of myosin II filament organization | Any process that modulates the frequency, rate or extent of the assembly, arrangement of constituent parts, or disassembly of a bipolar filament composed of myosin II molecules. |
| regulation of smooth muscle contraction | Any process that modulates the frequency, rate or extent of smooth muscle contraction. |
99 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A4IFM7 | MYLK2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Bos taurus (Bovine) | SS |
| Q0V7M1 | PSKH1 | Serine/threonine-protein kinase H1 | Bos taurus (Bovine) | SS |
| Q0VD22 | STK33 | Serine/threonine-protein kinase 33 | Bos taurus (Bovine) | PR |
| Q96NX5 | CAMK1G | Calcium/calmodulin-dependent protein kinase type 1G | Homo sapiens (Human) | SS |
| O15075 | DCLK1 | Serine/threonine-protein kinase DCLK1 | Homo sapiens (Human) | EV |
| Q14012 | CAMK1 | Calcium/calmodulin-dependent protein kinase type 1 | Homo sapiens (Human) | EV |
| Q86YV6 | MYLK4 | Myosin light chain kinase family member 4 | Homo sapiens (Human) | SS |
| Q16566 | CAMK4 | Calcium/calmodulin-dependent protein kinase type IV | Homo sapiens (Human) | SS |
| P11801 | PSKH1 | Serine/threonine-protein kinase H1 | Homo sapiens (Human) | SS |
| Q8N568 | DCLK2 | Serine/threonine-protein kinase DCLK2 | Homo sapiens (Human) | PR |
| O75962 | TRIO | Triple functional domain protein | Homo sapiens (Human) | EV |
| Q9H1R3 | MYLK2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Homo sapiens (Human) | EV |
| Q32MK0 | MYLK3 | Myosin light chain kinase 3 | Homo sapiens (Human) | SS |
| Q8WWF8 | CAPSL | Calcyphosin-like protein | Homo sapiens (Human) | PR |
| Q6P2M8 | PNCK | Calcium/calmodulin-dependent protein kinase type 1B | Homo sapiens (Human) | SS |
| Q9BYT3 | STK33 | Serine/threonine-protein kinase 33 | Homo sapiens (Human) | PR |
| Q8NCB2 | CAMKV | CaM kinase-like vesicle-associated protein | Homo sapiens (Human) | SS |
| Q8IU85 | CAMK1D | Calcium/calmodulin-dependent protein kinase type 1D | Homo sapiens (Human) | SS |
| P53355 | DAPK1 | Death-associated protein kinase 1 | Homo sapiens (Human) | EV |
| Q9UIK4 | DAPK2 | Death-associated protein kinase 2 | Homo sapiens (Human) | EV |
| O94768 | STK17B | Serine/threonine-protein kinase 17B | Homo sapiens (Human) | PR |
| Q9UEE5 | STK17A | Serine/threonine-protein kinase 17A | Homo sapiens (Human) | SS |
| Q9QYK9 | Pnck | Calcium/calmodulin-dependent protein kinase type 1B | Mus musculus (Mouse) | PR |
| Q91VB2 | Camk1g | Calcium/calmodulin-dependent protein kinase type 1G | Mus musculus (Mouse) | SS |
| Q8BG48 | Stk17b | Serine/threonine-protein kinase 17B | Mus musculus (Mouse) | PR |
| Q8VCR8 | Mylk2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Mus musculus (Mouse) | SS |
| Q6PGN3 | Dclk2 | Serine/threonine-protein kinase DCLK2 | Mus musculus (Mouse) | PR |
| Q91YS8 | Camk1 | Calcium/calmodulin-dependent protein kinase type 1 | Mus musculus (Mouse) | SS |
| Q3UIZ8 | Mylk3 | Myosin light chain kinase 3 | Mus musculus (Mouse) | SS |
| Q8VDF3 | Dapk2 | Death-associated protein kinase 2 | Mus musculus (Mouse) | EV |
| Q6P8Y1 | Capsl | Calcyphosin-like protein | Mus musculus (Mouse) | PR |
| Q8BW96 | Camk1d | Calcium/calmodulin-dependent protein kinase type 1D | Mus musculus (Mouse) | SS |
| Q3UHL1 | Camkv | CaM kinase-like vesicle-associated protein | Mus musculus (Mouse) | SS |
| P08414 | Camk4 | Calcium/calmodulin-dependent protein kinase type IV | Mus musculus (Mouse) | SS |
| Q9JLM8 | Dclk1 | Serine/threonine-protein kinase DCLK1 | Mus musculus (Mouse) | SS |
| Q91YA2 | Pskh1 | Serine/threonine-protein kinase H1 | Mus musculus (Mouse) | SS |
| Q80YE7 | Dapk1 | Death-associated protein kinase 1 | Mus musculus (Mouse) | SS |
| Q62407 | Speg | Striated muscle-specific serine/threonine-protein kinase | Mus musculus (Mouse) | SS |
| Q0KL02 | Trio | Triple functional domain protein | Mus musculus (Mouse) | SS |
| Q924X7 | Stk33 | Serine/threonine-protein kinase 33 | Mus musculus (Mouse) | PR |
| O54784 | Dapk3 | Death-associated protein kinase 3 | Mus musculus (Mouse) | PR |
| Q7TNJ7 | Camk1g | Calcium/calmodulin-dependent protein kinase type 1G | Rattus norvegicus (Rat) | SS |
| P20689 | Mylk2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Rattus norvegicus (Rat) | SS |
| F1M0Z1 | Trio | Triple functional domain protein | Rattus norvegicus (Rat) | SS |
| Q91XS8 | Stk17b | Serine/threonine-protein kinase 17B | Rattus norvegicus (Rat) | PR |
| O08875 | Dclk1 | Serine/threonine-protein kinase DCLK1 | Rattus norvegicus (Rat) | PR |
| E9PT87 | Mylk3 | Myosin light chain kinase 3 | Rattus norvegicus (Rat) | SS |
| O70150 | Pnck | Calcium/calmodulin-dependent protein kinase type 1B | Rattus norvegicus (Rat) | PR |
| Q63092 | Camkv | CaM kinase-like vesicle-associated protein | Rattus norvegicus (Rat) | SS |
| Q63638 | Speg | Striated muscle-specific serine/threonine-protein kinase | Rattus norvegicus (Rat) | SS |
| P13234 | Camk4 | Calcium/calmodulin-dependent protein kinase type IV | Rattus norvegicus (Rat) | SS |
| Q63450 | Camk1 | Calcium/calmodulin-dependent protein kinase type 1 | Rattus norvegicus (Rat) | EV |
| P97924 | Kalrn | Kalirin | Rattus norvegicus (Rat) | SS |
| Q5MPA9 | Dclk2 | Serine/threonine-protein kinase DCLK2 | Rattus norvegicus (Rat) | PR |
| O88764 | Dapk3 | Death-associated protein kinase 3 | Rattus norvegicus (Rat) | PR |
| Q5VQQ5 | CPK2 | Calcium-dependent protein kinase 2 | Oryza sativa subsp. japonica (Rice) | SS |
| Q8LPZ7 | CPK3 | Calcium-dependent protein kinase 3 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6K968 | CPK6 | Calcium-dependent protein kinase 6 | Oryza sativa subsp. japonica (Rice) | SS |
| P53684 | CPK7 | Calcium-dependent protein kinase 7 | Oryza sativa subsp japonica (Rice) | PR |
| Q75GE8 | CPK8 | Calcium-dependent protein kinase 8 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6I5I8 | CPK16 | Calcium-dependent protein kinase 16 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6AVM3 | CCAMK | Calcium and calcium/calmodulin-dependent serine/threonine-protein kinase | Oryza sativa subsp japonica (Rice) | PR |
| Q84SL0 | CPK20 | Calcium-dependent protein kinase 20 | Oryza sativa subsp. japonica (Rice) | SS |
| P53682 | CPK23 | Calcium-dependent protein kinase 23 | Oryza sativa subsp japonica (Rice) | PR |
| Q9TXJ0 | cmk-1 | Calcium/calmodulin-dependent protein kinase type 1 | Caenorhabditis elegans | PR |
| Q95QC4 | zyg-8 | Serine/threonine-protein kinase zyg-8 | Caenorhabditis elegans | PR |
| O44997 | dapk-1 | Death-associated protein kinase dapk-1 | Caenorhabditis elegans | SS |
| P28583 | Calcium-dependent protein kinase SK5 | Glycine max (Soybean) (Glycine hispida) | PR | |
| Q9M9V8 | CPK10 | Calcium-dependent protein kinase 10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39016 | CPK11 | Calcium-dependent protein kinase 11 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FX86 | CRK8 | CDPK-related kinase 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SSF8 | CPK30 | Calcium-dependent protein kinase 30 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38872 | CPK6 | Calcium-dependent protein kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q7XJR9 | CPK16 | Calcium-dependent protein kinase 16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SIQ7 | CPK24 | Calcium-dependent protein kinase 24 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SJ61 | CPK25 | Calcium-dependent protein kinase 25 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZV15 | CPK20 | Calcium-dependent protein kinase 20 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P93759 | GK-1 | Calcium-dependent protein kinase 14 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8S8S2 | LPEAT2 | Lysophospholipid acyltransferase LPEAT2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38870 | CPK2 | Calcium-dependent protein kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LJL9 | CRK2 | CDPK-related kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SG12 | CRK6 | CDPK-related kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SCS2 | CRK5 | CDPK-related kinase 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8W4I7 | CPK13 | Calcium-dependent protein kinase 13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6NLQ6 | CPK32 | Calcium-dependent protein kinase 32 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZSA4 | CPK27 | Calcium-dependent protein kinase 27 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38869 | CPK4 | Calcium-dependent protein kinase 4 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q42479 | CPK3 | Calcium-dependent protein kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q1PE17 | CPK18 | Calcium-dependent protein kinase 18 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q06850 | CPK1 | Calcium-dependent protein kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FMP5 | CPK17 | Calcium-dependent protein kinase 17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38873 | CPK7 | Calcium-dependent protein kinase 7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q3E9C0 | CPK34 | Calcium-dependent protein kinase 34 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q42438 | CPK8 | Calcium-dependent protein kinase 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q42396 | CPK12 | Calcium-dependent protein kinase 12 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FKW4 | CPK28 | Calcium-dependent protein kinase 28 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q1LUA6 | trio | Triple functional domain protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| A8C984 | mylk3 | Myosin light chain kinase 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q7SY49 | camkv | CaM kinase-like vesicle-associated protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSTFRQEDVE | DHYEMGEELG | SGQFAIVRKC | RQKGTGKEYA | AKFIKKRRLS | SSRRGVSREE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IEREVNILRE | IRHPNIITLH | DIFENKTDVV | LILELVSGGE | LFDFLAEKES | LTEDEATQFL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KQILDGVHYL | HSKRIAHFDL | KPENIMLLDK | NVPNPRIKLI | DFGIAHKIEA | GNEFKNIFGT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PEFVAPEIVN | YEPLGLEADM | WSIGVITYIL | LSGASPFLGE | TKQETLTNIS | AVNYDFDEEY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FSNTSELAKD | FIRRLLVKDP | KRRMTIAQSL | EHSWIKAIRR | RNVRGEDSGR | KPERRRLKTT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RLKEYTIKSH | SSLPPNNSYA | DFERFSKVLE | EAAAAEEGLR | ELQRSRRLCH | EDVEALAAIY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EEKEAWYREE | SDSLGQDLRR | LRQELLKTEA | LKRQAQEEAK | GALLGTSGLK | RRFSRLENRY |
| 430 | 440 | 450 | |||
| EALAKQVASE | MRFVQDLVRA | LEQEKLQGVE | CGLR |