Cancer metastasis database

Annotation category 5

Gene information

Gene ID 4507
Symbol

MTAP

Synonymous

BDMF|DMSFH|DMSMFH|HEL-249|LGMBF|MSAP|c86fus

Full name

methylthioadenosine phosphorylase

Gene description

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

Cytoband

9p21

Gene type

protein-coding

Synonymous

MIM:156540; HGNC:HGNC:7413; Ensembl:ENSG00000099810; HPRD:01134; Vega:OTTHUMG00000019690

COSMIC somatic mutation

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