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

Basic Information

Gene ID

4507

Name

MTAP

Synonymous

methylthioadenosine phosphorylase;MTAP;methylthioadenosine phosphorylase

Definition

5'-methylthioadenosine phosphorylase|MTA phosphorylase|MTAPase|MeSAdo phosphorylase|S-methyl-5'-thioadenosine phosphorylase|epididymis luminal protein 249

Position

9p21

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

Top

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.07.

The copy number variations for various cancers

Top

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.366G>C; p.Q122H; 9:21837926-21837926

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.368C>T; p.S123F; 9:21837928-21837928

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.567G>A; p.W189*; 9:21854747-21854747

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.166G>A; p.V56I; 9:21816759-21816759

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.192G>A; p.Q64Q; 9:21818047-21818047

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.192G>A; p.Q64Q; 9:21818047-21818047

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.433T>G; p.C145G; 9:21837993-21837993

 skinmalignant_melanomaSubstitution - Missense

c.717C>G; p.T239T; 9:21859329-21859329

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.454C>T; p.L152F; 9:21854634-21854634

 skinmalignant_melanomaSubstitution - Missense

c.339C>G; p.F113L; 9:21818194-21818194

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.158T>C; p.V53A; 9:21816751-21816751

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.618G>T; p.K206N; 9:21854798-21854798

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.543A>C; p.A181A; 9:21854723-21854723

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.147G>A; p.K49K; 9:21816740-21816740

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.663T>G; p.Y221*; 9:21854843-21854843

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.147G>A; p.K49K; 9:21816740-21816740

 pancreascarcinomaSubstitution - coding silent

c.147G>A; p.K49K; 9:21816740-21816740

 skinmalignant_melanomaSubstitution - coding silent

c.527G>A; p.R176H; 9:21854707-21854707

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.516C>T; p.I172I; 9:21854696-21854696

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.561C>T; p.R187R; 9:21854741-21854741

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.92delA; p.K32fs*14; 9:21815491-21815491

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.369C>T; p.S123S; 9:21837929-21837929

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.780C>T; p.S260S; 9:21859392-21859392

 skinmalignant_melanomaSubstitution - coding silent

c.168C>T; p.V56V; 9:21816761-21816761

 skinmalignant_melanomaSubstitution - coding silent

c.784G>A; p.E262K; 9:21859396-21859396

 skinmalignant_melanomaSubstitution - Missense

c.426G>A; p.E142E; 9:21837986-21837986

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.533G>A; p.S178N; 9:21854713-21854713

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.591C>A; p.T197T; 9:21854771-21854771

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.406T>C; p.C136R; 9:21837966-21837966

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.429G>A; p.P143P; 9:21837989-21837989

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.429G>A; p.P143P; 9:21837989-21837989

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.498G>A; p.K166K; 9:21854678-21854678

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.86G>C; p.R29T; 9:21815485-21815485

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.572C>T; p.A191V; 9:21854752-21854752

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.572C>T; p.A191V; 9:21854752-21854752

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.508G>A; p.V170I; 9:21854688-21854688

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.654G>C; p.A218A; 9:21854834-21854834

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.4G>A; p.A2T; 9:21802752-21802752

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.250G>A; p.E84K; 9:21818105-21818105

 breastcarcinomaSubstitution - Missense

c.807C>A; p.N269K; 9:21859419-21859419

 pancreasother; adenomaSubstitution - Missense

c.766C>T; p.P256S; 9:21859378-21859378

 skinmalignant_melanomaSubstitution - Missense

c.40A>C; p.I14L; 9:21815439-21815439

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.534C>T; p.S178S; 9:21854714-21854714

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.534C>T; p.S178S; 9:21854714-21854714

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.146A>C; p.K49T; 9:21816739-21816739

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.266T>C; p.V89A; 9:21818121-21818121

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

')