| Gene ID | 1022 |
| Symbol | CDK7 |
| Synonymous | CAK1|CDKN7|HCAK|MO15|STK1|p39MO15 |
| Full name | cyclin-dependent kinase 7 |
| Gene description | 39 KDa protein kinase|CAK|CDK-activating kinase 1|TFIIH basal transcription factor complex kinase subunit|cell division protein kinase 7|cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)|homolog of Xenopus MO15 Cdk-activating |
| Cytoband | 5q12.1 |
| Gene type | protein-coding |
| Synonymous | MIM:601955; HGNC:HGNC:1778; Ensembl:ENSG00000134058; HPRD:15993; Vega:OTTHUMG00000099358 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.385C>T; p.H129Y; 5:69258130-69258130 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.885C>A; p.F295L; 5:69276563-69276563 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.123G>T; p.K41N; 5:69235450-69235450 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.254C>A; p.S85Y; 5:69255485-69255485 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.15G>A; p.V5V; 5:69234990-69234990 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - coding silent |
c.658G>C; p.D220H; 5:69269237-69269237 |
breast | carcinoma | Substitution - Missense |
c.839C>T; p.P280L; 5:69273016-69273016 |
skin | malignant_melanoma | Substitution - Missense |
c.715G>C; p.D239H; 5:69272892-69272892 |
breast | carcinoma | Substitution - Missense |
c.654C>T; p.D218D; 5:69269233-69269233 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.127-1G>C; p.?; 5:69252417-69252417 |
urinary_tract; bladder | carcinoma | Unknown |
c.475G>A; p.A159T; 5:69259884-69259884 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.901C>T; p.P301S; 5:69276579-69276579 |
skin | malignant_melanoma | Substitution - Missense |
c.5C>T; p.A2V; 5:69234980-69234980 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.629T>A; p.V210D; 5:69269208-69269208 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1012+1G>A; p.?; 5:69276691-69276691 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.955G>T; p.E319*; 5:69276633-69276633 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.787G>A; p.A263T; 5:69272964-69272964 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.22C>T; p.R8W; 5:69234997-69234997 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.388C>A; p.Q130K; 5:69258133-69258133 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>A; p.D216N; 5:69269225-69269225 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.482C>A; p.S161Y; 5:69259891-69259891 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1032A>G; p.L344L; 5:69277126-69277126 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.314A>C; p.N105T; 5:69258059-69258059 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.552A>T; p.L184L; 5:69262229-69262229 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1026G>T; p.K342N; 5:69277120-69277120 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.819A>C; p.Q273H; 5:69272996-69272996 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.457C>G; p.L153V; 5:69259866-69259866 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.89G>C; p.R30T; 5:69235416-69235416 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.617T>C; p.L206S; 5:69262294-69262294 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.197T>A; p.L66*; 5:69254638-69254638 |
thyroid | other; neoplasm | Substitution - Nonsense |
c.274G>A; p.D92N; 5:69255505-69255505 |
breast | carcinoma | Substitution - Missense |
c.157G>C; p.D53H; 5:69252448-69252448 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.855G>A; p.T285T; 5:69273032-69273032 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.911G>C; p.G304A; 5:69276589-69276589 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.270C>A; p.V90V; 5:69255501-69255501 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.539C>T; p.A180V; 5:69262216-69262216 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.91G>T; p.D31Y; 5:69235418-69235418 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.644G>A; p.G215E; 5:69269223-69269223 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.295G>C; p.E99Q; 5:69255526-69255526 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.848G>A; p.R283Q; 5:69273025-69273025 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.758C>T; p.P253L; 5:69272935-69272935 |
skin | malignant_melanoma | Substitution - Missense |