Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

2013

Name

EMP2

Synonymous

epithelial membrane protein 2;EMP2;epithelial membrane protein 2

Definition

-

Position

16p13.2

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 0.00.

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.418G>A; p.G140S; 16:10532991-10532991

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.384G>A; p.A128A; 16:10533025-10533025

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.70G>T; p.V24F; 16:10547548-10547548

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.70G>T; p.V24F; 16:10547548-10547548

 livercarcinomaSubstitution - Missense

c.498C>G; p.R166R; 16:10532911-10532911

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.73G>A; p.D25N; 16:10547545-10547545

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.458C>T; p.T153I; 16:10532951-10532951

 skinmalignant_melanomaSubstitution - Missense

c.450C>T; p.F150F; 16:10532959-10532959

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.300C>T; p.I100I; 16:10537944-10537944

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.395C>T; p.P132L; 16:10533014-10533014

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.232G>A; p.A78T; 16:10538012-10538012

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.232G>A; p.A78T; 16:10538012-10538012

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.179C>T; p.T60M; 16:10538065-10538065

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.28G>A; p.A10T; 16:10547590-10547590

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.28G>A; p.A10T; 16:10547590-10547590

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.246C>T; p.F82F; 16:10537998-10537998

 skinmalignant_melanomaSubstitution - coding silent

c.28G>A; p.A10T; 16:10547590-10547590

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.246C>T; p.F82F; 16:10537998-10537998

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.369T>C; p.I123I; 16:10533040-10533040

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.341C>A; p.S114Y; 16:10533068-10533068

 NSNSSubstitution - Missense

c.248T>C; p.V83A; 16:10537996-10537996

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.299T>C; p.I100T; 16:10537945-10537945

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.263G>A; p.R88H; 16:10537981-10537981

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.180G>A; p.T60T; 16:10538064-10538064

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.488T>C; p.L163P; 16:10532921-10532921

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.273G>A; p.Q91Q; 16:10537971-10537971

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.381C>T; p.N127N; 16:10533028-10533028

 breastcarcinomaSubstitution - coding silent

c.359G>A; p.R120H; 16:10533050-10533050

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.372C>T; p.H124H; 16:10533037-10533037

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.138G>A; p.T46T; 16:10543601-10543601

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.138G>A; p.T46T; 16:10543601-10543601

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.176C>A; p.S59Y; 16:10538068-10538068

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.189G>A; p.A63A; 16:10538055-10538055

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.189G>A; p.A63A; 16:10538055-10538055

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.161G>T; p.S54I; 16:10543578-10543578

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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