| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 79648 |
Name | MCPH1 |
Synonymous | microcephalin 1;MCPH1;microcephalin 1 |
Definition | BRCT-repeat inhibitor of TERT expression 1|microcephalin |
Position | 8p23.1 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
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Loss of Function mutations compare to missense mutations | Top |
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| The ratio of the loss-of-function mutations over missense mutations is 0.20. |
The copy number variations for various cancers | Top |
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The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
|
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
|---|---|---|---|
c.2347G>A; p.G783R; 8:6621586-6621586 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.991C>T; p.R331C; 8:6444713-6444713 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.1781C>T; p.T594M; 8:6445503-6445503 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1073G>T; p.R358I; 8:6444795-6444795 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1396delA; p.T468fs*32; 8:6445118-6445118 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.505A>C; p.N169H; 8:6439021-6439021 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |