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

Basic Information

Gene ID

7462

Name

LAT2

Synonymous

linker for activation of T cells family, member 2;LAT2;linker for activation of T cells family, member 2

Definition

Williams-Beuren syndrome chromosomal region 15 protein|Williams-Beuren syndrome chromosomal region 5 protein|linker for activation of B-cells|linker for activation of T cells, transmembrane adaptor 2|linker for activation of T-cells family member 2|membra

Position

7q11.23

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

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 0.11.

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.699C>T; p.Y233Y; 7:74224709-74224709

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.607C>T; p.R203C; 7:74224176-74224176

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.607C>T; p.R203C; 7:74224176-74224176

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.80G>A; p.R27H; 7:74216055-74216055

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.566delA; p.E189fs*46; 7:74224135-74224135

 livercarcinomaDeletion - Frameshift

c.167G>A; p.R56Q; 7:74219776-74219776

 pancreascarcinomaSubstitution - Missense

c.715G>C; p.A239P; 7:74224725-74224725

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.167G>A; p.R56Q; 7:74219776-74219776

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.126G>A; p.Q42Q; 7:74216856-74216856

 skinmalignant_melanomaSubstitution - coding silent

c.457C>T; p.Q153*; 7:74224026-74224026

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.501A>G; p.S167S; 7:74224070-74224070

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.390T>C; p.D130D; 7:74223725-74223725

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.454C>A; p.Q152K; 7:74224023-74224023

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.552G>A; p.P184P; 7:74224121-74224121

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.552G>A; p.P184P; 7:74224121-74224121

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.381C>T; p.P127P; 7:74221685-74221685

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.385G>C; p.E129Q; 7:74221689-74221689

 ovaryother; neoplasmSubstitution - Missense

c.159G>A; p.T53T; 7:74219768-74219768

 pancreascarcinomaSubstitution - coding silent

c.385G>C; p.E129Q; 7:74221689-74221689

 ovaryother; neoplasmSubstitution - Missense

c.158C>A; p.T53K; 7:74219767-74219767

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.613T>C; p.S205P; 7:74224182-74224182

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.158C>T; p.T53M; 7:74219767-74219767

 pancreascarcinomaSubstitution - Missense

c.352T>C; p.Y118H; 7:74221656-74221656

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.314G>A; p.G105E; 7:74220716-74220716

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.86C>T; p.S29L; 7:74216061-74216061

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.527C>T; p.S176F; 7:74224096-74224096

 oesophaguscarcinomaSubstitution - Missense

c.53T>G; p.L18W; 7:74216028-74216028

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.53T>G; p.L18W; 7:74216028-74216028

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.53T>G; p.L18W; 7:74216028-74216028

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.711G>A; p.E237E; 7:74224721-74224721

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.286C>T; p.Q96*; 7:74220604-74220604

 pancreascarcinoma; ductal_carcinomaSubstitution - Nonsense

c.367C>T; p.R123W; 7:74221671-74221671

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.367C>T; p.R123W; 7:74221671-74221671

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.367C>T; p.R123W; 7:74221671-74221671

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.367C>T; p.R123W; 7:74221671-74221671

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.322G>A; p.E108K; 7:74220724-74220724

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.88C>T; p.R30C; 7:74216063-74216063

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.89G>A; p.R30H; 7:74216064-74216064

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.31G>A; p.G11R; 7:74216006-74216006

 pancreascarcinomaSubstitution - Missense

c.372C>G; p.F124L; 7:74221676-74221676

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.209C>T; p.A70V; 7:74219990-74219990

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.210G>A; p.A70A; 7:74219991-74219991

 skinmalignant_melanomaSubstitution - coding silent

c.620A>C; p.K207T; 7:74224189-74224189

 lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.338C>A; p.P113H; 7:74221642-74221642

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.200G>T; p.G67V; 7:74219981-74219981

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.464G>A; p.G155D; 7:74224033-74224033

 skinmalignant_melanomaSubstitution - Missense

c.65C>G; p.A22G; 7:74216040-74216040

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.647C>A; p.A216E; 7:74224657-74224657

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.241T>C; p.L81L; 7:74220230-74220230

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3G>A; p.M1I; 7:74215978-74215978

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.372C>T; p.F124F; 7:74221676-74221676

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.221C>T; p.P74L; 7:74220002-74220002

 skinmalignant_melanomaSubstitution - Missense

c.593C>T; p.S198F; 7:74224162-74224162

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.460G>A; p.E154K; 7:74224029-74224029

 skinmalignant_melanomaSubstitution - Missense

c.637C>T; p.Q213*; 7:74224647-74224647

 pancreascarcinomaSubstitution - Nonsense

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