O15075
EV
Gene name |
DCLK1 (DCAMKL1, DCDC3A, KIAA0369) |
Protein name |
Serine/threonine-protein kinase DCLK1 |
Names |
Doublecortin domain-containing protein 3A, Doublecortin-like and CAM kinase-like 1, Doublecortin-like kinase 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9201 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
SERINE/THREONINE-PROTEIN KINASE (PTHR24347) |
Descriptions
Doublecortin-like kinase 1 (DCLK1) is upregulated in many tumors and is a marker for tumor stem cells. DCLK1 contains the N-terminal tandem doublecortin domains and the C-terminal Ser/Thr kinase domain. The C-terminal kinase is autoinhibited by a C-terminal autoinhibitory domain), which consists of an arginine-rich region to function as a pseudosubstrate for DCLK1 by binding to the cleft between the two lobes of the kinase domain, blocking the ATP and peptide substrate-binding site and inhibiting DCLK1 kinase activity in an ATP-competitive manner. HPCAL1, a member of visinin-like-proteins (VILIPs), belongs to the neuronal calcium sensor (NCS) family, which are calcium-binding proteins involved in the regulation of neuronal Ca2+ signaling. HPCAL1 directly binds the AID of DCLK1 in a Ca2+-dependent manner to activate DCLK1 kinase activity.
Autoinhibitory domains (AIDs)
Target domain |
390-647 (Protein kinase domain) |
Relief mechanism |
Partner binding |
Assay |
Mutagenesis experiment, Deletion assay, Structural analysis |
Accessory elements
532-552 (Activation loop from InterPro)
Target domain |
390-647 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
12 structures for O15075
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1MFW | X-ray | 160 A | A | 49-154 | PDB |
| 1MG4 | X-ray | 150 A | A | 49-154 | PDB |
| 1UF0 | NMR | - | A | 54-156 | PDB |
| 5JZJ | X-ray | 171 A | A/B | 372-649 | PDB |
| 5JZN | X-ray | 285 A | A/B | 372-649 | PDB |
| 6KYQ | X-ray | 214 A | A/B | 379-704 | PDB |
| 6KYR | X-ray | 221 A | A/B | 379-704 | PDB |
| 7F3G | X-ray | 210 A | A/B | 372-649 | PDB |
| 7KX6 | X-ray | 250 A | A/B | 372-649 | PDB |
| 7KX8 | X-ray | 310 A | A/B | 372-686 | PDB |
| 7KXW | X-ray | 300 A | A/B | 372-649 | PDB |
| AF-O15075-F1 | Predicted | AlphaFoldDB |
369 variants for O15075
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6948676 rs202044323 |
2 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335613725 CA387985147 |
3 | F>C | No |
ClinGen gnomAD |
|
|
CA248563828 rs1033291245 |
3 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA248563826 rs977685309 |
4 | G>D | No |
ClinGen TOPMed |
|
|
CA387985141 rs1454981668 |
4 | G>R | No |
ClinGen TOPMed |
|
|
CA6948675 rs774842177 |
7 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA387985102 rs1398280014 |
7 | M>V | No |
ClinGen gnomAD |
|
|
rs1165437069 CA387985072 |
9 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs576234646 CA387985076 |
9 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6948673 rs199983211 |
11 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs920255390 CA248563823 |
14 | E>K | No |
ClinGen TOPMed |
|
|
CA248563818 rs940382487 |
16 | D>N | No |
ClinGen Ensembl |
|
|
rs1340568626 CA387984962 |
18 | A>E | No |
ClinGen gnomAD |
|
|
COSM1203126 COSM1203125 CA387984959 rs1340568626 |
18 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6948669 rs781103461 |
21 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA6948668 rs758430190 |
22 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1376151056 CA387984899 |
23 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs752565045 CA248563806 |
24 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387984894 rs1309260749 |
24 | G>R | No |
ClinGen TOPMed |
|
|
CA6948667 rs752565045 |
24 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 25 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 25 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1661386 rs1445277054 CA387984869 COSM1661385 |
26 | R>Q | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA248563799 rs373323934 |
28 | N>K | No |
ClinGen ESP gnomAD |
|
| VAR_045673 | 29 | G>C | a gastric adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA248563796 rs1024483972 |
29 | G>R | No |
ClinGen TOPMed |
|
|
rs1368532243 CA387984819 |
31 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA387984822 rs1368532243 |
31 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1566022863 CA387984809 |
32 | S>I | No |
ClinGen Ensembl |
|
|
CA387984807 rs200714460 |
32 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387984789 rs1161548886 |
34 | T>K | No |
ClinGen gnomAD |
|
|
CA387984755 rs760301962 |
37 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs760301962 CA6948662 COSM291121 COSM291120 |
37 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6948661 rs772745963 |
38 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs376111080 CA248563777 |
42 | Y>H | No |
ClinGen ESP TOPMed |
|
|
CA387984659 rs1566022803 |
45 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| VAR_045674 | 46 | T>M | a gastric adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA387984628 rs1470740227 |
48 | Q>R | No |
ClinGen TOPMed |
|
|
CA6948658 rs373107227 COSM1366651 COSM1366652 |
49 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA387984551 rs1304735527 |
54 | K>R | No |
ClinGen gnomAD |
|
|
rs1405419969 CA387984543 |
55 | K>E | No |
ClinGen gnomAD |
|
|
rs867794611 CA248563760 |
55 | K>R | No |
ClinGen gnomAD |
|
|
CA387984541 rs867794611 |
55 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 59 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1321590833 CA387984500 |
59 | V>I | No |
ClinGen gnomAD |
|
|
rs1374686309 CA387984486 |
60 | R>H | No |
ClinGen TOPMed |
|
|
rs1158168068 CA387984465 |
62 | Y>C | No |
ClinGen gnomAD |
|
|
CA6948655 rs775875746 |
62 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6948654 rs770183177 |
63 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770183177 CA387984459 |
63 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs746085515 COSM271640 COSM271639 CA6948653 |
65 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 66 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387984358 rs1593913438 |
72 | I>F | No |
ClinGen Ensembl |
|
|
rs1245453953 CA387984312 |
76 | I>V | No |
ClinGen gnomAD |
|
|
rs956066614 CA248563744 |
78 | P>S | No |
ClinGen Ensembl |
|
|
rs748125069 CA6948650 |
80 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA248563739 rs865830641 |
81 | F>L | No |
ClinGen Ensembl |
|
|
CA387984252 rs1448174952 |
81 | F>Y | No |
ClinGen gnomAD |
|
|
COSM1366648 CA6948649 COSM1366647 rs778679656 |
82 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6948648 COSM160354 COSM160353 rs754793386 |
82 | R>L | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1284872928 CA387984236 |
83 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA387984187 rs1263548938 |
86 | A>T | No |
ClinGen TOPMed |
|
|
CA387984095 COSM947107 rs1366698690 VAR_045675 COSM20549 |
93 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium stomach a gastric adenocarcinoma sample; somatic mutation [NCI-TCGA, Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt NCI-TCGA dbSNP gnomAD |
|
rs531312784 CA6948645 |
95 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6948644 rs750026852 |
96 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA387984049 rs1327027669 |
98 | N>D | No |
ClinGen gnomAD |
|
|
rs1457106323 CA387983953 |
107 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 109 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA248563715 rs1008349465 |
115 | K>R | No |
ClinGen Ensembl |
|
|
CA387983891 rs1177470859 |
116 | K>N | No |
ClinGen gnomAD |
|
|
rs764457570 CA6948640 |
116 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 117 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776065878 CA387983870 |
119 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6948638 rs763530579 |
119 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1397181238 CA387983154 |
127 | E>K | No |
ClinGen TOPMed |
|
|
CA6948617 rs752129882 |
128 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs771110309 CA6948616 |
130 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387983103 rs1352726513 |
134 | I>L | No |
ClinGen gnomAD |
|
|
CA387983101 rs1235436201 |
134 | I>T | No |
ClinGen gnomAD |
|
|
CA387983019 rs1230251110 |
145 | N>S | No |
ClinGen TOPMed |
|
|
CA387982982 rs1226116200 |
150 | W>L | No |
ClinGen gnomAD |
|
|
rs749232440 CA6948612 |
151 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1593901391 CA387982963 |
153 | N>S | No |
ClinGen Ensembl |
|
|
COSM1743150 rs745600254 COSM1743151 CA6948609 |
154 | V>I | biliary_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1443353427 CA387982948 |
155 | K>N | No |
ClinGen gnomAD |
|
|
CA387982945 rs1593901359 |
156 | T>P | No |
ClinGen Ensembl |
|
|
CA387982935 rs1214142906 |
157 | T>I | No |
ClinGen TOPMed |
|
|
rs1593901351 CA387982940 |
157 | T>P | No |
ClinGen Ensembl |
|
|
rs1028740648 CA248560036 |
158 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1249811 CA387982915 rs1566017267 COSM1249812 |
161 | R>Q | oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs368906217 CA6948606 |
161 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs899361438 CA248560027 |
165 | S>L | No |
ClinGen gnomAD |
|
|
CA6948605 rs777440939 |
165 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753288236 CA6948603 |
166 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6948602 rs200959547 |
167 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387982878 rs1202855987 |
168 | T>I | No |
ClinGen gnomAD |
|
|
CA387982870 rs1461609252 |
170 | K>Q | No |
ClinGen TOPMed |
|
|
rs1490824475 CA387982867 |
170 | K>T | No |
ClinGen gnomAD |
|
|
rs1158974685 CA387982862 |
171 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 172 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220924038 CA387982853 |
172 | S>N | No |
ClinGen gnomAD |
|
|
rs755492980 CA6948601 |
175 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1593901216 CA387982825 |
176 | V>G | No |
ClinGen Ensembl |
|
|
CA248560014 rs886691472 |
176 | V>M | No |
ClinGen Ensembl |
|
|
rs754197263 CA6948600 |
177 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6948599 rs766765628 |
177 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387982823 rs766765628 |
177 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 178 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350213751 CA387982817 COSM1249807 COSM1249808 |
178 | E>G | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 186 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767584616 CA6948596 |
188 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1319516535 COSM947098 CA387982704 COSM947097 |
195 | V>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA387982681 rs1160789205 |
198 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6948592 rs745784836 |
198 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 200 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 200 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423128195 CA387982624 |
207 | K>R | No |
ClinGen gnomAD |
|
|
rs746646195 CA6948589 |
210 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6948588 rs777528773 |
211 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1185208328 CA387982524 |
222 | D>H | No |
ClinGen TOPMed |
|
|
CA387982507 rs1191799433 |
224 | I>T | No |
ClinGen gnomAD |
|
|
CA6948583 rs754353941 |
228 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1475362195 CA387982480 |
228 | S>W | No |
ClinGen TOPMed |
|
| TCGA novel | 232 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6948580 rs750671778 |
233 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1366635 CA387982450 COSM1366636 rs1237880518 |
233 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs750671778 CA387982452 |
233 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1212119744 COSM186372 CA387982431 COSM186373 |
236 | T>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA387982425 rs1460772332 |
237 | L>S | No |
ClinGen Ensembl |
|
|
rs1301129425 CA387982427 |
237 | L>V | No |
ClinGen gnomAD |
|
|
CA387982419 rs1402173711 |
238 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 239 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 240 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387986841 rs1185580270 |
244 | C>R | No |
ClinGen gnomAD |
|
|
CA387986825 rs1443228197 |
245 | L>F | No |
ClinGen gnomAD |
|
|
rs751723606 CA6948558 |
248 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 249 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 250 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763049563 CA6948556 |
251 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA248462140 rs868208520 |
252 | D>Y | No |
ClinGen Ensembl |
|
|
rs1252383850 CA387986717 |
254 | I>V | No |
ClinGen gnomAD |
|
|
CA387986642 rs1228347026 |
260 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387986618 rs1294775940 |
262 | K>N | No |
ClinGen gnomAD |
|
|
rs766391796 CA6948554 |
264 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA248462100 rs866848982 |
268 | D>N | No |
ClinGen Ensembl |
|
|
CA387986498 rs1398390392 |
272 | D>E | No |
ClinGen gnomAD |
|
|
CA387846030 rs1323559124 |
277 | R>Q | No |
ClinGen TOPMed |
|
|
rs1593684070 CA387845980 |
282 | T>A | No |
ClinGen Ensembl |
|
|
rs775132428 CA6948524 |
285 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA387845953 rs775132428 |
285 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 287 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387845931 rs1207637180 |
288 | A>P | No |
ClinGen gnomAD |
|
| VAR_045676 | 291 | S>F | a gastric adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs1268441796 CA387845906 |
292 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1317893 VAR_045677 CA248141714 COSM1317894 rs56185003 |
292 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD |
| TCGA novel | 294 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1008421942 CA248141683 |
299 | P>S | No |
ClinGen TOPMed |
|
|
rs1437147123 COSM3772813 COSM3772811 COSM3772812 CA387845844 |
301 | P>L | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 302 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1366629 CA6948518 rs777971990 COSM1366630 |
304 | R>C | large_intestine Variant assessed as Somatic; 9.241e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs777971990 CA6948519 |
304 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3772809 CA6948517 COSM3772808 rs758716913 COSM3772810 |
304 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA387845824 rs1336598190 |
305 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA387845803 rs1455927173 |
308 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 309 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866436233 CA248141609 COSM1562273 COSM1562272 |
310 | S>F | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA6948515 rs779066772 |
311 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387844603 rs1593664577 |
317 | T>P | No |
ClinGen Ensembl |
|
|
rs760066804 CA6948466 |
324 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760066804 CA387844557 |
324 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3721427 COSM3721424 COSM3721425 COSM3721426 rs1349581346 CA387844550 |
325 | P>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs563995347 CA6948465 |
325 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs894891178 COSM1317895 COSM158711 COSM158710 CA248131621 |
326 | R>C | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6948462 rs373217123 |
326 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA387844544 rs373217123 |
326 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1235958087 CA387844538 |
327 | S>L | No |
ClinGen gnomAD |
|
|
rs1159091695 CA387844532 |
328 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1313289615 CA387844522 |
330 | S>A | No |
ClinGen gnomAD |
|
|
rs769128085 CA6948461 |
330 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1593664473 CA387844504 |
333 | P>T | No |
ClinGen Ensembl |
|
|
rs141887894 CA6948458 |
335 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387844490 rs1281500583 |
335 | P>S | No |
ClinGen TOPMed |
|
|
rs1286887898 CA387844470 |
338 | P>L | No |
ClinGen gnomAD |
|
|
rs1180086262 CA387844466 |
339 | G>R | No |
ClinGen TOPMed |
|
|
rs1467455048 CA387844456 |
340 | S>I | No |
ClinGen gnomAD |
|
|
rs147962548 CA6948457 |
342 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6948456 rs147962548 |
342 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM170007 CA387844447 COSM170006 rs1378105661 |
342 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 344 | Q>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771970920 CA6948455 |
345 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 345 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566560661 CA387843652 |
346 | S>N | No |
ClinGen Ensembl |
|
|
rs1221694968 CA387843631 |
349 | H>P | No |
ClinGen gnomAD |
|
|
CA387843632 rs1249013178 |
349 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1200371044 CA387843626 |
350 | G>S | No |
ClinGen gnomAD |
|
|
CA387843620 rs1251929920 |
351 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1211444400 CA387843603 |
353 | S>F | No |
ClinGen gnomAD |
|
|
rs200878326 CA6948410 |
354 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 356 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1279022780 CA387843584 |
357 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs777418883 CA6948409 |
357 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6948407 rs753191248 |
359 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs532051324 CA6948405 |
361 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387843542 rs1227873881 |
363 | S>R | No |
ClinGen TOPMed |
|
|
CA387843535 rs1266242947 |
364 | S>L | No |
ClinGen TOPMed |
|
|
CA387843538 rs1330609773 |
364 | S>T | No |
ClinGen gnomAD |
|
|
CA387843532 rs1437584784 |
365 | M>L | No |
ClinGen gnomAD |
|
|
rs1396529215 CA387843530 |
365 | M>T | No |
ClinGen gnomAD |
|
|
CA6948403 rs766641915 |
366 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1399390249 CA387843514 |
367 | E>G | No |
ClinGen gnomAD |
|
|
CA387843518 rs1320275524 |
367 | E>K | No |
ClinGen gnomAD |
|
|
CA387843500 rs1173689068 |
369 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 372 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754265976 CA6948386 |
376 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1278196878 COSM1514286 CA387842747 COSM1514284 COSM1514285 |
377 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 378 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207370482 CA387842696 |
380 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 381 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780388988 CA6948385 |
384 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA387842642 rs1272479368 |
384 | A>T | No |
ClinGen gnomAD |
|
|
rs1381737188 CA387842630 |
385 | T>A | No |
ClinGen gnomAD |
|
|
CA6948384 rs756382778 |
385 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA248120030 rs376414675 |
387 | T>A | No |
ClinGen ESP |
|
| TCGA novel | 388 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA248120027 rs866658941 |
389 | R>Q | No |
ClinGen Ensembl |
|
|
rs1295024741 CA387842537 |
392 | V>I | No |
ClinGen TOPMed |
|
|
rs1310450357 COSM1587080 CA387842523 COSM243979 COSM243978 |
393 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs761911329 CA6948381 |
395 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs752597825 CA6948380 |
396 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs761253827 CA248119979 |
397 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 400 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 401 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387842418 rs1593644012 |
407 | C>* | No |
ClinGen Ensembl |
|
|
rs1566558913 CA387842416 |
408 | V>I | No |
ClinGen Ensembl |
|
|
rs773115614 CA6948354 COSM298634 COSM298633 |
411 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1229445992 CA387841355 |
415 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs373867921 CA6948351 |
422 | K>T | No |
ClinGen ESP ExAC |
|
| TCGA novel | 423 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 426 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221522393 CA387849683 |
427 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767997062 CA6948350 |
427 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773811526 CA6948331 |
430 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387849634 rs1566554172 |
432 | M>T | No |
ClinGen Ensembl |
|
|
rs1436163065 CA387849588 |
438 | S>C | No |
ClinGen gnomAD |
|
|
CA387849568 rs1566554161 |
441 | R>I | No |
ClinGen Ensembl |
|
| TCGA novel | 444 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6948328 rs377548672 |
449 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM551224 CA248155607 rs749408147 COSM551223 COSM1140386 |
450 | L>P | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA248155597 rs776100552 |
452 | I>T | No |
ClinGen Ensembl |
|
|
rs746369758 CA6948326 |
455 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194178143 CA387849477 |
455 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 457 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260115024 CA387849451 |
458 | P>L | No |
ClinGen gnomAD |
|
|
CA6948325 rs777067371 |
459 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA387849441 rs771132885 |
460 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6948324 rs771132885 |
460 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 462 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276251110 CA387849384 |
468 | V>G | No |
ClinGen gnomAD |
|
|
rs368116002 CA6948295 |
472 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 472 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 473 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364916806 CA387849229 |
475 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 476 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 477 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777541553 CA6948293 |
480 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 485 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1443244742 CA387849161 |
485 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6948289 rs758996166 |
488 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA248151147 rs1001239789 |
490 | G>A | No |
ClinGen gnomAD |
|
|
rs766831813 CA6948287 |
493 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1593628007 CA387849096 |
494 | N>T | No |
ClinGen Ensembl |
|
|
rs1394084630 CA387849064 |
499 | I>F | No |
ClinGen gnomAD |
|
|
CA6948283 rs762134916 |
499 | I>T | No |
ClinGen ExAC gnomAD |
|
|
COSM947085 COSM1152647 rs775609349 CA6948279 COSM947086 |
508 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs770840688 CA387848988 |
510 | R>C | No |
ClinGen ExAC TOPMed |
|
|
COSM98977 rs1361586366 COSM304458 CA387848986 |
510 | R>H | large_intestine stomach [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs770840688 CA6948278 |
510 | R>S | No |
ClinGen ExAC TOPMed |
|
|
rs774837014 CA6948265 |
519 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs950108110 CA248142245 |
520 | Y>C | No |
ClinGen Ensembl |
|
|
CA387848708 rs1422411579 |
521 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 525 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6948262 rs775491203 |
528 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1172508526 CA387848622 |
529 | L>M | No |
ClinGen TOPMed |
|
|
CA387848589 rs1282469303 |
532 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 535 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566544733 CA387848519 |
539 | I>T | No |
ClinGen Ensembl |
|
|
CA6948258 rs771972541 |
540 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6948256 rs778673015 |
542 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414798084 CA387848440 |
548 | C>R | No |
ClinGen gnomAD |
|
|
rs567041957 CA248142143 |
551 | P>L | No |
ClinGen 1000Genomes |
|
|
rs750993021 CA6948251 |
559 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1419839290 CA387848300 |
562 | T>A | No |
ClinGen gnomAD |
|
|
CA6948250 rs200521809 |
562 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6948249 rs535509328 |
563 | G>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1179016201 CA387848144 |
565 | G>D | No |
ClinGen gnomAD |
|
|
rs954649433 CA248140784 |
568 | V>A | No |
ClinGen Ensembl |
|
|
CA387848045 rs1220579668 |
570 | I>S | No |
ClinGen TOPMed |
|
|
CA6948231 rs757899330 |
570 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866370681 CA248140756 |
573 | A>S | No |
ClinGen Ensembl |
|
|
rs1192882931 CA387847712 |
587 | F>L | No |
ClinGen TOPMed |
|
|
rs756141643 CA6948205 |
590 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 590 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764134344 CA6948203 |
591 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs760469890 CA248140234 |
591 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764134344 CA248140229 |
591 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs762798402 CA6948202 |
592 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344575823 CA387847544 |
593 | D>E | No |
ClinGen gnomAD |
|
|
CA387847501 rs1395858654 |
596 | V>L | No |
ClinGen gnomAD |
|
|
rs1193243458 CA387847466 |
598 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1193243458 CA387847468 |
598 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1431759280 CA387847437 |
600 | Q>P | No |
ClinGen gnomAD |
|
|
CA387847397 rs1184485999 |
605 | Q>E | No |
ClinGen gnomAD |
|
|
CA387847386 rs1593611266 |
606 | V>G | No |
ClinGen Ensembl |
|
|
rs572820868 CA248140216 |
606 | V>M | No |
ClinGen 1000Genomes |
|
|
rs554236550 CA248140215 |
609 | P>L | No |
ClinGen 1000Genomes TOPMed |
|
|
CA387847365 rs554236550 |
609 | P>R | No |
ClinGen 1000Genomes TOPMed |
|
| TCGA novel | 610 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387847357 rs1485826598 |
611 | P>A | No |
ClinGen gnomAD |
|
|
rs765069595 CA6948199 |
614 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387847328 rs1213755565 |
615 | N>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 615 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6948197 rs776384268 |
616 | V>I | No |
ClinGen ExAC |
|
|
CA248140179 rs575565299 |
618 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
rs1471739635 CA387847289 |
621 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 621 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA248138498 rs916631884 |
627 | M>T | No |
ClinGen TOPMed |
|
|
rs1235080806 CA387846779 |
627 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1396292591 CA387846753 |
631 | D>N | No |
ClinGen TOPMed |
|
|
rs1398840362 CA387846742 |
632 | V>A | No |
ClinGen gnomAD |
|
|
rs1398840362 CA387846741 |
632 | V>G | No |
ClinGen gnomAD |
|
|
CA248138474 rs998846373 |
637 | S>C | No |
ClinGen TOPMed |
|
|
rs1461765425 CA387846678 |
642 | L>F | No |
ClinGen gnomAD |
|
|
COSM551235 COSM551236 COSM1140380 rs1213237656 CA387846664 |
644 | H>Y | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1421961690 CA387846637 |
648 | N>H | No |
ClinGen gnomAD |
|
|
rs761282174 CA6948155 |
649 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1438658565 CA387845457 |
650 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6948154 rs773822732 |
651 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 651 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6948152 rs763441974 |
653 | P>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1514287 rs146043148 CA6948153 COSM1514289 COSM1514288 |
653 | P>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs775847658 CA6948151 |
655 | N>S | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 656 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361436548 CA387845319 |
657 | H>Q | No |
ClinGen TOPMed |
|
|
CA6948149 rs529067405 |
658 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6948148 rs372376341 |
661 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 664 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 666 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6948147 rs771151820 |
667 | K>R | No |
ClinGen ExAC |
|
|
CA387845112 rs1374940370 |
670 | N>D | No |
ClinGen gnomAD |
|
|
rs1374940370 CA387845114 |
670 | N>H | No |
ClinGen gnomAD |
|
|
CA6948146 rs747122620 |
672 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 672 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6948144 rs754979350 |
675 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387845037 rs1322088693 |
675 | P>L | No |
ClinGen gnomAD |
|
|
CA6948145 rs754979350 |
675 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6948142 rs780022912 |
677 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427749722 CA387844958 |
680 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 682 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158634780 CA387844890 |
685 | I>V | No |
ClinGen gnomAD |
|
|
rs200688248 CA6948108 |
696 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs774488296 CA6948105 |
699 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463921540 CA387844157 |
701 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 702 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593575713 CA387844147 |
702 | N>T | No |
ClinGen Ensembl |
|
|
CA387844120 rs1483282949 |
705 | V>A | No |
ClinGen TOPMed |
|
|
rs769680190 CA6948104 |
706 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 730 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs745824879 | 734 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 739 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with O15075
5 regional properties for O15075
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 390 - 647 | IPR000719 |
| domain | Doublecortin domain | 52 - 143 | IPR003533-1 |
| domain | Doublecortin domain | 181 - 269 | IPR003533-2 |
| active_site | Serine/threonine-protein kinase, active site | 507 - 519 | IPR008271 |
| binding_site | Protein kinase, ATP binding site | 396 - 423 | IPR017441 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR24347 | SERINE/THREONINE-PROTEIN KINASE |
| PANTHER Subfamily | PTHR24347:SF401 | SERINE_THREONINE-PROTEIN KINASE DCLK1 |
| PANTHER Protein Class |
non-receptor serine/threonine protein kinase
protein modifying enzyme |
|
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| 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. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| axon extension | Long distance growth of a single axon process involved in cellular development. |
| central nervous system development | The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. |
| central nervous system projection neuron axonogenesis | Generation of a long process of a CNS neuron, that carries efferent (outgoing) action potentials from the cell body towards target cells in a different central nervous system region. |
| dendrite morphogenesis | The process in which the anatomical structures of a dendrite are generated and organized. |
| endosomal transport | The directed movement of substances mediated by an endosome, a membrane-bounded organelle that carries materials enclosed in the lumen or located in the endosomal membrane. |
| forebrain development | The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions). |
| 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 protein localization to nucleus | Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to nucleus. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| neuron migration | The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature. |
| neuron projection morphogenesis | The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| protein localization to nucleus | A process in which a protein transports or maintains the localization of another protein to the nucleus. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| response to virus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. |
102 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 |
| Q9VUI3 | DCX-EMAP | Echinoderm microtubule-associated protein-like CG42247 | Drosophila melanogaster (Fruit fly) | PR |
| Q96NX5 | CAMK1G | Calcium/calmodulin-dependent protein kinase type 1G | Homo sapiens (Human) | SS |
| Q14012 | CAMK1 | Calcium/calmodulin-dependent protein kinase type 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 |
| 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 |
| Q9UEE5 | STK17A | Serine/threonine-protein kinase 17A | Homo sapiens (Human) | SS |
| 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 |
| P53355 | DAPK1 | Death-associated protein kinase 1 | Homo sapiens (Human) | EV |
| 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 |
| O43293 | DAPK3 | Death-associated protein kinase 3 | Homo sapiens (Human) | PR |
| Q8IU85 | CAMK1D | Calcium/calmodulin-dependent protein kinase type 1D | Homo sapiens (Human) | SS |
| Q9UHG0 | DCDC2 | Doublecortin domain-containing protein 2 | Homo sapiens (Human) | PR |
| Q8N568 | DCLK2 | Serine/threonine-protein kinase DCLK2 | Homo sapiens (Human) | PR |
| 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 |
| 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 |
| 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 |
| Q5DU00 | Dcdc2 | Doublecortin domain-containing protein 2 | Mus musculus (Mouse) | PR |
| Q6PGN3 | Dclk2 | Serine/threonine-protein kinase DCLK2 | Mus musculus (Mouse) | PR |
| Q9JLM8 | Dclk1 | Serine/threonine-protein kinase DCLK1 | Mus musculus (Mouse) | SS |
| 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 |
| 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 |
| O88764 | Dapk3 | Death-associated protein kinase 3 | Rattus norvegicus (Rat) | PR |
| 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 |
| O08875 | Dclk1 | Serine/threonine-protein kinase DCLK1 | 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 |
| O44997 | dapk-1 | Death-associated protein kinase dapk-1 | Caenorhabditis elegans | SS |
| Q95QC4 | zyg-8 | Serine/threonine-protein kinase zyg-8 | Caenorhabditis elegans | PR |
| 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 |
| MSFGRDMELE | HFDERDKAQR | YSRGSRVNGL | PSPTHSAHCS | FYRTRTLQTL | SSEKKAKKVR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FYRNGDRYFK | GIVYAISPDR | FRSFEALLAD | LTRTLSDNVN | LPQGVRTIYT | IDGLKKISSL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DQLVEGESYV | CGSIEPFKKL | EYTKNVNPNW | SVNVKTTSAS | RAVSSLATAK | GSPSEVRENK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DFIRPKLVTI | IRSGVKPRKA | VRILLNKKTA | HSFEQVLTDI | TDAIKLDSGV | VKRLYTLDGK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QVMCLQDFFG | DDDIFIACGP | EKFRYQDDFL | LDESECRVVK | STSYTKIASS | SRRSTTKSPG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PSRRSKSPAS | TSSVNGTPGS | QLSTPRSGKS | PSPSPTSPGS | LRKQRSSQHG | GSSTSLASTK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VCSSMDENDG | PGEEVSEEGF | QIPATITERY | KVGRTIGDGN | FAVVKECVER | STAREYALKI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IKKSKCRGKE | HMIQNEVSIL | RRVKHPNIVL | LIEEMDVPTE | LYLVMELVKG | GDLFDAITST |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NKYTERDASG | MLYNLASAIK | YLHSLNIVHR | DIKPENLLVY | EHQDGSKSLK | LGDFGLATIV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DGPLYTVCGT | PTYVAPEIIA | ETGYGLKVDI | WAAGVITYIL | LCGFPPFRGS | GDDQEVLFDQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ILMGQVDFPS | PYWDNVSDSA | KELITMMLLV | DVDQRFSAVQ | VLEHPWVNDD | GLPENEHQLS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VAGKIKKHFN | TGPKPNSTAA | GVSVIATTAL | DKERQVFRRR | RNQDVRSRYK | AQPAPPELNS |
| 730 | |||||
| ESEDYSPSSS | ETVRSPNSPF |