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

Basic Information

Gene ID

920

Name

CD4

Synonymous

CD4 molecule;CD4;CD4 molecule

Definition

CD4 antigen (p55)|CD4 receptor|T-cell surface antigen T4/Leu-3|T-cell surface glycoprotein CD4

Position

12p13.31

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 0.11.

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.515C>T; p.S172F; 12:6814900-6814900

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.539G>A; p.G180D; 12:6814924-6814924

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1171T>G; p.S391A; 12:6818435-6818435

 thyroidother; neoplasmSubstitution - Missense

c.365T>C; p.V122A; 12:6814292-6814292

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.516T>A; p.S172S; 12:6814901-6814901

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.672A>T; p.P224P; 12:6816120-6816120

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1219G>A; p.G407S; 12:6818483-6818483

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.606_607+8delAGGTAAGGGA; p.?; 12:6814991-6815000

 breastcarcinomaUnknown

c.167C>T; p.S56F; 12:6800424-6800424

 skinmalignant_melanomaSubstitution - Missense

c.167C>T; p.S56F; 12:6800424-6800424

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.573G>A; p.K191K; 12:6814958-6814958

 skinmalignant_melanomaSubstitution - coding silent

c.1065G>T; p.E355D; 12:6817239-6817239

 breastcarcinomaSubstitution - Missense

c.92G>A; p.G31D; 12:6800349-6800349

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.97A>T; p.K33*; 12:6800354-6800354

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.846C>T; p.L282L; 12:6816294-6816294

 meningesmeningiomaSubstitution - coding silent

c.1173C>T; p.S391S; 12:6818437-6818437

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1330A>C; p.T444P; 12:6818898-6818898

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.683C>A; p.T228K; 12:6816131-6816131

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.218C>T; p.P73L; 12:6814145-6814145

 skinmalignant_melanomaSubstitution - Missense

c.709G>A; p.E237K; 12:6816157-6816157

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.165C>T; p.N55N; 12:6800422-6800422

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.807C>T; p.D269D; 12:6816255-6816255

 skinmalignant_melanomaSubstitution - coding silent

c.58C>T; p.P20S; 12:6800315-6800315

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.836C>T; p.P279L; 12:6816284-6816284

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1163C>A; p.P388H; 12:6818427-6818427

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1026G>A; p.L342L; 12:6817200-6817200

 skinmalignant_melanomaSubstitution - coding silent

c.492delG; p.K167fs*31; 12:6814877-6814877

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.492delG; p.K167fs*31; 12:6814877-6814877

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.492delG; p.K167fs*31; 12:6814877-6814877

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.492delG; p.K167fs*31; 12:6814877-6814877

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.492delG; p.K167fs*31; 12:6814877-6814877

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.492delG; p.K167fs*31; 12:6814877-6814877

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.378T>C; p.T126T; 12:6814763-6814763

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.277C>A; p.P93T; 12:6814204-6814204

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.808C>T; p.P270S; 12:6816256-6816256

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1038C>G; p.N346K; 12:6817212-6817212

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.561G>A; p.L187L; 12:6814946-6814946

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.752G>T; p.W251L; 12:6816200-6816200

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.72G>T; p.Q24H; 12:6800329-6800329

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.509C>T; p.S170F; 12:6814894-6814894

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.765C>T; p.D255D; 12:6816213-6816213

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.472C>T; p.P158S; 12:6814857-6814857

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.589A>G; p.I197V; 12:6814974-6814974

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.109G>T; p.V37L; 12:6800366-6800366

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.304G>A; p.E102K; 12:6814231-6814231

 breastcarcinomaSubstitution - Missense

c.1278G>A; p.R426R; 12:6818542-6818542

 skinmalignant_melanomaSubstitution - coding silent

c.956-2A>T; p.?; 12:6817128-6817128

 lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.956-2A>T; p.?; 12:6817128-6817128

 lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.511G>T; p.V171L; 12:6814896-6814896

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1055C>T; p.S352L; 12:6817229-6817229

 kidneyother; neoplasmSubstitution - Missense

c.1055C>T; p.S352L; 12:6817229-6817229

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.345G>A; p.K115K; 12:6814272-6814272

 skinmalignant_melanomaSubstitution - coding silent

c.1095G>A; p.A365A; 12:6817269-6817269

 breastcarcinomaSubstitution - coding silent

c.676G>T; p.A226S; 12:6816124-6816124

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.237C>T; p.R79R; 12:6814164-6814164

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1077G>T; p.W359C; 12:6817251-6817251

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.522G>A; p.L174L; 12:6814907-6814907

 skinmalignant_melanomaSubstitution - coding silent

c.1213G>A; p.V405I; 12:6818477-6818477

 thyroidcarcinomaSubstitution - Missense

c.154C>T; p.H52Y; 12:6800411-6800411

 skinmalignant_melanomaSubstitution - Missense

c.1233C>T; p.F411F; 12:6818497-6818497

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.675C>T; p.L225L; 12:6816123-6816123

 skinmalignant_melanomaSubstitution - coding silent

c.675C>T; p.L225L; 12:6816123-6816123

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.346G>A; p.E116K; 12:6814273-6814273

 skinmalignant_melanomaSubstitution - Missense

c.520C>G; p.L174V; 12:6814905-6814905

 breastcarcinomaSubstitution - Missense

c.286A>G; p.I96V; 12:6814213-6814213

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1371C>A; p.P457P; 12:6819323-6819323

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.268G>A; p.G90R; 12:6814195-6814195

 skinmalignant_melanomaSubstitution - Missense

c.639G>T; p.K213N; 12:6816087-6816087

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.408G>A; p.G136G; 12:6814793-6814793

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1279C>T; p.R427C; 12:6818847-6818847

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.756C>T; p.I252I; 12:6816204-6816204

 breastcarcinomaSubstitution - coding silent

c.872A>G; p.Y291C; 12:6816320-6816320

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1212C>T; p.G404G; 12:6818476-6818476

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.344_346delAGG; p.E117delE; 12:6814271-6814273

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.1020G>T; p.L340L; 12:6817194-6817194

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1317C>T; p.L439L; 12:6818885-6818885

 skinmalignant_melanomaSubstitution - coding silent

c.731G>A; p.R244K; 12:6816179-6816179

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.856C>T; p.Q286*; 12:6816304-6816304

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.807C>A; p.D269E; 12:6816255-6816255

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.809C>A; p.P270H; 12:6816257-6816257

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1238G>C; p.G413A; 12:6818502-6818502

 skinmalignant_melanomaSubstitution - Missense

c.597C>T; p.I199I; 12:6814982-6814982

 ovaryother; neoplasmSubstitution - coding silent

c.379G>A; p.A127T; 12:6814764-6814764

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1042G>A; p.E348K; 12:6817216-6817216

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.481A>C; p.K161Q; 12:6814866-6814866

 pancreascarcinomaSubstitution - Missense

c.1347-1G>A; p.?; 12:6819298-6819298

 breastcarcinomaUnknown

c.844C>T; p.L282F; 12:6816292-6816292

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.837G>A; p.P279P; 12:6816285-6816285

 breastcarcinomaSubstitution - coding silent

c.1358A>G; p.K453R; 12:6819310-6819310

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1086C>T; p.N362N; 12:6817260-6817260

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.944T>C; p.V315A; 12:6816392-6816392

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230A>T; p.N77I; 12:6814157-6814157

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.168C>T; p.S56S; 12:6800425-6800425

 skinmalignant_melanomaSubstitution - coding silent

c.1191G>A; p.M397I; 12:6818455-6818455

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.513G>A; p.V171V; 12:6814898-6814898

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.236G>A; p.R79H; 12:6814163-6814163

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1341T>C; p.C447C; 12:6818909-6818909

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.269G>A; p.G90E; 12:6814196-6814196

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.804G>T; p.Q268H; 12:6816252-6816252

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1089T>C; p.P363P; 12:6817263-6817263

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1035G>A; p.E345E; 12:6817209-6817209

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1216G>A; p.A406T; 12:6818480-6818480

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.665C>T; p.S222F; 12:6816113-6816113

 skinmalignant_melanomaSubstitution - Missense

c.697A>T; p.T233S; 12:6816145-6816145

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.793C>T; p.R265W; 12:6816241-6816241

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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