| Gene ID | 902 |
| Symbol | CCNH |
| Synonymous | CAK|CycH|p34|p37 |
| Full name | cyclin H |
| Gene description | CAK complex subunit|CDK-activating kinase complex subunit|MO15-associated protein|cyclin-H|cyclin-dependent kinase-activating kinase complex subunit |
| Cytoband | 5q13.3-q14 |
| Gene type | protein-coding |
| Synonymous | MIM:601953; HGNC:HGNC:1594; Ensembl:ENSG00000134480; HPRD:09059; Vega:OTTHUMG00000119077 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.454C>A; p.Q152K; 5:87408047-87408047 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.930G>T; p.E310D; 5:87395047-87395047 |
skin | malignant_melanoma | Substitution - Missense |
c.949G>A; p.D317N; 5:87394469-87394469 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.180T>C; p.Y60Y; 5:87411284-87411284 |
pancreas | carcinoma | Substitution - coding silent |
c.781A>T; p.K261*; 5:87399485-87399485 |
breast | carcinoma | Substitution - Nonsense |
c.601A>G; p.T201A; 5:87404932-87404932 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.601A>G; p.T201A; 5:87404932-87404932 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.105G>T; p.V35V; 5:87412690-87412690 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.732C>T; p.C244C; 5:87401730-87401730 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.590G>A; p.R197K; 5:87404943-87404943 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.177C>A; p.Y59*; 5:87411287-87411287 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.797G>A; p.R266K; 5:87399469-87399469 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.712C>A; p.L238M; 5:87401750-87401750 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.951C>G; p.D317E; 5:87394467-87394467 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.421G>C; p.E141Q; 5:87408080-87408080 |
breast | carcinoma | Substitution - Missense |
c.406C>T; p.Q136*; 5:87408095-87408095 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.561G>C; p.L187F; 5:87404972-87404972 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.561G>C; p.L187F; 5:87404972-87404972 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.702G>C; p.E234D; 5:87401760-87401760 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.355A>T; p.N119Y; 5:87408146-87408146 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.834G>A; p.E278E; 5:87399432-87399432 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.865G>A; p.V289I; 5:87399401-87399401 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.429A>G; p.I143M; 5:87408072-87408072 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.733C>T; p.L245L; 5:87401729-87401729 |
pancreas | carcinoma | Substitution - coding silent |
c.251G>T; p.C84F; 5:87409353-87409353 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.251G>T; p.C84F; 5:87409353-87409353 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.251G>T; p.C84F; 5:87409353-87409353 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.514A>G; p.I172V; 5:87407987-87407987 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.514A>G; p.I172V; 5:87407987-87407987 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.251G>T; p.C84F; 5:87409353-87409353 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.251G>T; p.C84F; 5:87409353-87409353 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.514A>G; p.I172V; 5:87407987-87407987 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.230G>A; p.R77K; 5:87411234-87411234 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.379G>A; p.G127R; 5:87408122-87408122 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.802_803delGA; p.E268fs*16; 5:87399463-87399464 |
thyroid | carcinoma; anaplastic_carcinoma | Deletion - Frameshift |
c.629C>T; p.S210F; 5:87404904-87404904 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.603G>A; p.T201T; 5:87404930-87404930 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.603G>A; p.T201T; 5:87404930-87404930 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.39C>T; p.F13F; 5:87412756-87412756 |
skin | malignant_melanoma | Substitution - coding silent |
c.157G>T; p.E53*; 5:87411307-87411307 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.206C>T; p.S69L; 5:87411258-87411258 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.262A>G; p.K88E; 5:87409342-87409342 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.809T>C; p.V270A; 5:87399457-87399457 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.61A>T; p.R21*; 5:87412734-87412734 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.835C>T; p.R279*; 5:87399431-87399431 |
pancreas | carcinoma | Substitution - Nonsense |
c.835C>T; p.R279*; 5:87399431-87399431 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.491A>C; p.Y164S; 5:87408010-87408010 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.329T>C; p.F110S; 5:87408172-87408172 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.448C>T; p.L150F; 5:87408053-87408053 |
skin | malignant_melanoma | Substitution - Missense |
c.529C>T; p.R177C; 5:87405004-87405004 |
skin | malignant_melanoma | Substitution - Missense |
c.872delC; p.T291fs*30; 5:87399394-87399394 |
breast | carcinoma; HER-positive_carcinoma | Deletion - Frameshift |
c.896A>T; p.D299V; 5:87395081-87395081 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.785A>G; p.Y262C; 5:87399481-87399481 |
liver | carcinoma | Substitution - Missense |
c.785A>G; p.Y262C; 5:87399481-87399481 |
liver | carcinoma | Substitution - Missense |
c.926A>G; p.H309R; 5:87395051-87395051 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.802G>T; p.E268*; 5:87399464-87399464 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.602C>T; p.T201M; 5:87404931-87404931 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.602C>T; p.T201M; 5:87404931-87404931 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.907G>A; p.V303I; 5:87395070-87395070 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.685G>A; p.E229K; 5:87404848-87404848 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.574G>A; p.D192N; 5:87404959-87404959 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.11A>T; p.N4I; 5:87412784-87412784 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |