| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 1528 |
Name | CYB5A |
Synonymous | cytochrome b5 type A (microsomal);CYB5A;cytochrome b5 type A (microsomal) |
Definition | cytochrome b5|type 1 cyt-b5 |
Position | 18q23 |
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 0.00. |
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.288G>A; p.P96P; 18:74260915-74260915 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.7G>C; p.E3Q; 18:74291869-74291869 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.31T>C; p.Y11H; 18:74291845-74291845 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.375G>C; p.L125F; 18:74253614-74253614 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.375G>C; p.L125F; 18:74253614-74253614 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.138T>C; p.G46G; 18:74263469-74263469 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.339G>A; p.W113*; 18:74253650-74253650 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.366C>T; p.A122A; 18:74253623-74253623 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.172G>A; p.D58N; 18:74263435-74263435 |
breast | carcinoma | Substitution - Missense |
c.22G>A; p.A8T; 18:74291854-74291854 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.369C>T; p.V123V; 18:74253620-74253620 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.48G>T; p.E16D; 18:74291828-74291828 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.256C>T; p.P86S; 18:74263351-74263351 |
skin | malignant_melanoma | Substitution - Missense |
c.14C>T; p.S5L; 18:74291862-74291862 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.232A>C; p.T78P; 18:74263375-74263375 |
breast | carcinoma | Substitution - Missense |
c.117A>T; p.K39N; 18:74291759-74291759 |
liver | carcinoma | Substitution - Missense |
c.245_246GG>TT; p.G82>?; 18:74263361-74263362 |
lung | carcinoma; adenocarcinoma | Complex |
c.45G>A; p.E15E; 18:74291831-74291831 |
breast | carcinoma | Substitution - coding silent |
c.181G>C; p.E61Q; 18:74263426-74263426 |
thyroid | carcinoma | Substitution - Missense |
c.383G>A; p.R128H; 18:74253606-74253606 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.227C>T; p.S76F; 18:74263380-74263380 |
skin | malignant_melanoma | Substitution - Missense |
c.382C>T; p.R128C; 18:74253607-74253607 |
skin | malignant_melanoma | Substitution - Missense |
c.382C>T; p.R128C; 18:74253607-74253607 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.367G>C; p.V123L; 18:74253622-74253622 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |