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

Basic Information

Gene ID

4118

Name

MAL

Synonymous

mal, T-cell differentiation protein;MAL;mal, T-cell differentiation protein

Definition

T-lymphocyte maturation-associated protein|myelin and lymphocyte protein

Position

2q11.1

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.166A>G; p.M56V; 2:95048031-95048031

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.94-2A>C; p.?; 2:95047957-95047957

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaUnknown

c.94-2A>C; p.?; 2:95047957-95047957

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaUnknown

c.336G>A; p.T112T; 2:95049655-95049655

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.194C>G; p.A65G; 2:95048059-95048059

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.282C>T; p.T94T; 2:95049601-95049601

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.161G>T; p.W54L; 2:95048026-95048026

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.276C>T; p.H92H; 2:95049595-95049595

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.236G>T; p.G79V; 2:95048101-95048101

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.197C>G; p.T66S; 2:95048062-95048062

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.295T>A; p.Y99N; 2:95049614-95049614

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.387G>T; p.V129V; 2:95049706-95049706

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.243G>A; p.E81E; 2:95048108-95048108

 skinmalignant_melanomaSubstitution - coding silent

c.243G>A; p.E81E; 2:95048108-95048108

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.114G>T; p.W38C; 2:95047979-95047979

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.283G>T; p.A95S; 2:95049602-95049602

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.440T>C; p.L147S; 2:95053433-95053433

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.415T>C; p.Y139H; 2:95053408-95053408

 livercarcinomaSubstitution - Missense

c.335C>T; p.T112M; 2:95049654-95049654

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.309A>G; p.S103S; 2:95049628-95049628

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.117C>T; p.I39I; 2:95047982-95047982

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.430G>A; p.V144M; 2:95053423-95053423

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.127T>A; p.S43T; 2:95047992-95047992

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.428C>T; p.A143V; 2:95053421-95053421

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.428C>T; p.A143V; 2:95053421-95053421

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.139C>T; p.P47S; 2:95048004-95048004

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.351C>T; p.F117F; 2:95049670-95049670

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.367C>A; p.H123N; 2:95049686-95049686

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.147C>A; p.P49P; 2:95048012-95048012

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.100G>A; p.G34R; 2:95047965-95047965

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.349T>C; p.F117L; 2:95049668-95049668

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.198C>A; p.T66T; 2:95048063-95048063

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.141C>T; p.P47P; 2:95048006-95048006

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.31A>G; p.T11A; 2:95025823-95025823

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.429G>A; p.A143A; 2:95053422-95053422

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.220A>G; p.I74V; 2:95048085-95048085

 prostatecarcinomaSubstitution - Missense

c.171C>T; p.F57F; 2:95048036-95048036

 pancreascarcinomaSubstitution - coding silent

c.297C>A; p.Y99*; 2:95049616-95049616

 prostateadenomaSubstitution - Nonsense

c.262-2A>G; p.?; 2:95049579-95049579

 lungcarcinoma; adenocarcinomaUnknown

c.99C>T; p.F33F; 2:95047964-95047964

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.130T>G; p.S44A; 2:95047995-95047995

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.359G>T; p.R120M; 2:95049678-95049678

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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