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

Basic Information

Gene ID

2012

Name

EMP1

Synonymous

epithelial membrane protein 1;EMP1;epithelial membrane protein 1

Definition

tumor-associated membrane protein

Position

12p12.3

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 0.08.

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.32T>G; p.V11G; 12:13211542-13211542

 skin; axillamalignant_melanomaSubstitution - Missense

c.32T>G; p.V11G; 12:13211542-13211542

 lungcarcinoma; bronchioloalveolar_adenocarcinomaSubstitution - Missense

c.32T>G; p.V11G; 12:13211542-13211542

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.333G>T; p.V111V; 12:13214550-13214550

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.362C>T; p.A121V; 12:13214579-13214579

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.423C>A; p.F141L; 12:13214640-13214640

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.243C>T; p.V81V; 12:13213748-13213748

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.358T>A; p.Y120N; 12:13214575-13214575

 skinmalignant_melanomaSubstitution - Missense

c.466A>C; p.K156Q; 12:13214683-13214683

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.291C>G; p.L97L; 12:13213796-13213796

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.133A>G; p.T45A; 12:13213533-13213533

 breastcarcinomaSubstitution - Missense

c.195G>A; p.Q65Q; 12:13213700-13213700

 large_intestine; colonadenomaSubstitution - coding silent

c.441C>T; p.I147I; 12:13214658-13214658

 oesophaguscarcinomaSubstitution - coding silent

c.289C>T; p.L97F; 12:13213794-13213794

 livercarcinomaSubstitution - Missense

c.98C>T; p.T33M; 12:13213498-13213498

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.175G>T; p.D59Y; 12:13213575-13213575

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.468G>T; p.K156N; 12:13214685-13214685

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.84G>A; p.W28*; 12:13213484-13213484

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.84G>A; p.W28*; 12:13213484-13213484

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.464G>T; p.R155I; 12:13214681-13214681

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.259T>G; p.F87V; 12:13213764-13213764

 skinmalignant_melanomaSubstitution - Missense

c.219C>T; p.I73I; 12:13213724-13213724

 skinmalignant_melanomaSubstitution - coding silent

c.320T>C; p.L107P; 12:13214537-13214537

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.347A>G; p.Y116C; 12:13214564-13214564

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.170G>A; p.S57N; 12:13213570-13213570

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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