Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
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

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We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.07.

The copy number variations for various cancers

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The copy number variations in 17 major cancer groups: 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; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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

livercarcinomaSubstitution - Missense

c.44C>G; p.S15C; 19:40775586-40775586

livercarcinomaSubstitution - Missense

c.296G>A; p.R99H; 19:40777003-40777003

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.7C>T; p.R3W; 19:40775549-40775549

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.7C>T; p.R3W; 19:40775549-40775549

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.8G>T; p.R3L; 19:40775550-40775550

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.262-2A>G; p.?; 19:40776967-40776967

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.40C>A; p.L14M; 19:40775582-40775582

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.137C>T; p.S46F; 19:40775761-40775761

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.156G>A; p.Q52Q; 19:40775780-40775780

skinmalignant_melanomaSubstitution - coding silent

c.70G>T; p.G24C; 19:40775612-40775612

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.61G>A; p.G21S; 19:40775603-40775603

urinary_tract; bladdercarcinomaSubstitution - Missense

c.172G>A; p.D58N; 19:40775796-40775796

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.84_85insA; p.L30fs*3; 19:40775626-40775627

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.186G>A; p.L62L; 19:40775810-40775810

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.166G>A; p.A56T; 19:40775790-40775790

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.69G>T; p.R23S; 19:40775611-40775611

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.392A>G; p.Q131R; 19:40777416-40777416

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.392A>G; p.Q131R; 19:40777416-40777416

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.171C>T; p.P57P; 19:40775795-40775795

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.357C>T; p.V119V; 19:40777064-40777064

breastcarcinomaSubstitution - coding silent

c.154C>T; p.Q52*; 19:40775778-40775778

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.167delC; p.D58fs*5; 19:40775791-40775791

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift


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