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

Basic Information

Gene ID

4144

Name

MAT2A

Synonymous

methionine adenosyltransferase II, alpha;MAT2A;methionine adenosyltransferase II, alpha

Definition

MAT 2|MAT-II|S-adenosylmethionine synthase isoform type-2|adoMet synthase 2|adoMet synthetase 2|methionine adenosyltransferase 2

Position

2p11.2

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 0.04.

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.999C>T; p.F333F; 2:85542948-85542948

 skinmalignant_melanomaSubstitution - coding silent

c.1030G>C; p.E344Q; 2:85542979-85542979

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.550-7C>A; p.?; 2:85542148-85542148

 kidneyother; neoplasmUnknown

c.731T>C; p.L244P; 2:85542336-85542336

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.437C>A; p.T146N; 2:85541860-85541860

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.529C>T; p.R177C; 2:85541952-85541952

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.674A>G; p.K225R; 2:85542279-85542279

 kidneyother; neoplasmSubstitution - Missense

c.251G>A; p.R84H; 2:85541336-85541336

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.768G>T; p.Q256H; 2:85542373-85542373

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.912C>T; p.S304S; 2:85542708-85542708

 skinmalignant_melanomaSubstitution - coding silent

c.1062T>C; p.D354D; 2:85543011-85543011

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.429T>C; p.T143T; 2:85541852-85541852

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.730C>G; p.L244V; 2:85542335-85542335

 pancreascarcinomaSubstitution - Missense

c.164C>A; p.A55D; 2:85541155-85541155

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.169G>A; p.E57K; 2:85541160-85541160

 prostatecarcinomaSubstitution - Missense

c.406G>T; p.G136C; 2:85541829-85541829

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.797T>C; p.I266T; 2:85542593-85542593

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.943C>G; p.L315V; 2:85542739-85542739

 breastcarcinomaSubstitution - Missense

c.416T>C; p.F139S; 2:85541839-85541839

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1053G>C; p.K351N; 2:85543002-85543002

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.596G>C; p.R199T; 2:85542201-85542201

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.885T>C; p.A295A; 2:85542681-85542681

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.331G>C; p.E111Q; 2:85541671-85541671

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.986C>G; p.S329C; 2:85542935-85542935

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.469G>A; p.A157T; 2:85541892-85541892

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.825T>C; p.G275G; 2:85542621-85542621

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.218C>T; p.S73F; 2:85541303-85541303

 ovaryother; neoplasmSubstitution - Missense

c.385G>T; p.D129Y; 2:85541725-85541725

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.792C>G; p.R264R; 2:85542588-85542588

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.792C>G; p.R264R; 2:85542588-85542588

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.951+1G>A; p.?; 2:85542748-85542748

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.792C>G; p.R264R; 2:85542588-85542588

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.148C>T; p.P50S; 2:85541139-85541139

 breastcarcinomaSubstitution - Missense

c.934C>T; p.R312W; 2:85542730-85542730

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.179C>A; p.A60D; 2:85541264-85541264

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.1019A>T; p.K340M; 2:85542968-85542968

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.816_817insG; p.W274fs*34; 2:85542612-85542613

 central_nervous_system; brainglioma; astrocytoma_Grade_IVInsertion - Frameshift

c.443A>T; p.E148V; 2:85541866-85541866

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.670G>A; p.E224K; 2:85542275-85542275

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.927_928TC>AT; p.L310L; 2:85542723-85542724

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1182A>G; p.K394K; 2:85543766-85543766

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.831T>C; p.H277H; 2:85542627-85542627

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.495A>T; p.A165A; 2:85541918-85541918

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.554C>T; p.T185I; 2:85542159-85542159

 soft_tissue; striated_musclerhabdomyosarcoma; alveolarSubstitution - Missense

c.115G>C; p.D39H; 2:85541106-85541106

 breastcarcinomaSubstitution - Missense

c.1038A>T; p.L346F; 2:85542987-85542987

 pancreascarcinomaSubstitution - Missense

c.651A>G; p.E217E; 2:85542256-85542256

 breastcarcinomaSubstitution - coding silent

c.1066C>T; p.R356C; 2:85543015-85543015

 skinmalignant_melanomaSubstitution - Missense

c.675A>G; p.K225K; 2:85542280-85542280

 livercarcinomaSubstitution - coding silent

c.109A>C; p.I37L; 2:85541100-85541100

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1086-1G>A; p.?; 2:85543669-85543669

 skinmalignant_melanomaUnknown

c.634G>A; p.E212K; 2:85542239-85542239

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.813T>C; p.Y271Y; 2:85542609-85542609

 breastcarcinomaSubstitution - coding silent

c.123C>G; p.V41V; 2:85541114-85541114

 kidneyother; neoplasmSubstitution - coding silent

c.677T>A; p.V226D; 2:85542282-85542282

 pancreascarcinomaSubstitution - Missense

c.1024G>A; p.E342K; 2:85542973-85542973

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.980C>T; p.P327L; 2:85542929-85542929

 skinmalignant_melanomaSubstitution - Missense

c.219C>T; p.S73S; 2:85541304-85541304

 ovaryother; neoplasmSubstitution - coding silent

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