General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 8190 |
Name | MIA |
Synonymous | melanoma inhibitory activity;MIA;melanoma inhibitory activity |
Definition | melanoma-derived growth regulatory protein |
Position | 19q13.2 |
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 |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.07. |
The copy number variations for various cancers | Top |
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.44C>G; p.S15C; 19:40775586-40775586 |
liver | carcinoma | Substitution - Missense |
c.44C>G; p.S15C; 19:40775586-40775586 |
liver | carcinoma | Substitution - Missense |
c.296G>A; p.R99H; 19:40777003-40777003 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7C>T; p.R3W; 19:40775549-40775549 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7C>T; p.R3W; 19:40775549-40775549 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8G>T; p.R3L; 19:40775550-40775550 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.262-2A>G; p.?; 19:40776967-40776967 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.40C>A; p.L14M; 19:40775582-40775582 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.137C>T; p.S46F; 19:40775761-40775761 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.156G>A; p.Q52Q; 19:40775780-40775780 |
skin | malignant_melanoma | Substitution - coding silent |
c.70G>T; p.G24C; 19:40775612-40775612 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.61G>A; p.G21S; 19:40775603-40775603 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.172G>A; p.D58N; 19:40775796-40775796 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.84_85insA; p.L30fs*3; 19:40775626-40775627 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.186G>A; p.L62L; 19:40775810-40775810 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.166G>A; p.A56T; 19:40775790-40775790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.69G>T; p.R23S; 19:40775611-40775611 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.392A>G; p.Q131R; 19:40777416-40777416 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.392A>G; p.Q131R; 19:40777416-40777416 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.171C>T; p.P57P; 19:40775795-40775795 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.357C>T; p.V119V; 19:40777064-40777064 |
breast | carcinoma | Substitution - coding silent |
c.154C>T; p.Q52*; 19:40775778-40775778 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.167delC; p.D58fs*5; 19:40775791-40775791 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |