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

Basic Information

Gene ID

27250

Name

PDCD4

Synonymous

programmed cell death 4 (neoplastic transformation inhibitor);PDCD4;programmed cell death 4 (neoplastic transformation inhibitor)

Definition

neoplastic transformation inhibitor protein|nuclear antigen H731|programmed cell death protein 4|protein 197/15a

Position

10q24

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

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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 0.16.

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.187_204del18; p.L63_S68delLRKNSS; 10:110881376-110881393

 breastcarcinoma; basal_(triple-negative)_carcinomaDeletion - In frame

c.929G>A; p.R310H; 10:110890609-110890609

 breastcarcinomaSubstitution - Missense

c.1114T>A; p.L372I; 10:110894427-110894427

 soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Missense

c.1114T>A; p.L372I; 10:110894427-110894427

 soft_tissue; striated_musclerhabdomyosarcomaSubstitution - Missense

c.226T>C; p.S76P; 10:110881415-110881415

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.206G>A; p.R69Q; 10:110881395-110881395

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1323A>G; p.K441K; 10:110896061-110896061

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1237C>T; p.P413S; 10:110895975-110895975

 skinmalignant_melanomaSubstitution - Missense

c.62A>G; p.D21G; 10:110881251-110881251

 skinmalignant_melanomaSubstitution - Missense

c.1086G>T; p.E362D; 10:110894186-110894186

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1212T>C; p.G404G; 10:110895950-110895950

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.228G>T; p.S76S; 10:110881417-110881417

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.227C>T; p.S76L; 10:110881416-110881416

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.278C>T; p.T93I; 10:110881467-110881467

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1283G>A; p.R428Q; 10:110896021-110896021

 pancreascarcinomaSubstitution - Missense

c.558A>G; p.E186E; 10:110887667-110887667

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1031T>C; p.I344T; 10:110894131-110894131

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.860A>G; p.D287G; 10:110889615-110889615

 thyroidcarcinomaSubstitution - Missense

c.154G>A; p.E52K; 10:110881343-110881343

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.111G>T; p.K37N; 10:110881300-110881300

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1220G>T; p.R407I; 10:110895958-110895958

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.421C>T; p.P141S; 10:110883077-110883077

 skinmalignant_melanomaSubstitution - Missense

c.557A>G; p.E186G; 10:110887666-110887666

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.604G>A; p.V202M; 10:110887713-110887713

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1333G>T; p.D445Y; 10:110896071-110896071

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.4G>A; p.D2N; 10:110876031-110876031

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.736G>T; p.D246Y; 10:110887845-110887845

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.736G>T; p.D246Y; 10:110887845-110887845

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.555G>A; p.A185A; 10:110885366-110885366

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.172A>G; p.K58E; 10:110881361-110881361

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.450T>C; p.C150C; 10:110885261-110885261

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1372G>A; p.E458K; 10:110898050-110898050

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.37C>T; p.P13S; 10:110876064-110876064

 skinmalignant_melanomaSubstitution - Missense

c.228G>A; p.S76S; 10:110881417-110881417

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1295A>T; p.E432V; 10:110896033-110896033

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1303C>T; p.Q435*; 10:110896041-110896041

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Nonsense

c.44-2A>C; p.?; 10:110881231-110881231

 breastcarcinomaUnknown

c.1009G>T; p.E337*; 10:110894109-110894109

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1274T>A; p.V425E; 10:110896012-110896012

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.342G>C; p.K114N; 10:110881531-110881531

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.96G>A; p.G32G; 10:110881285-110881285

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.394G>A; p.D132N; 10:110883050-110883050

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.724A>G; p.K242E; 10:110887833-110887833

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.163_164insT; p.N56fs*1; 10:110881352-110881353

 livercarcinomaInsertion - Frameshift

c.308G>A; p.R103Q; 10:110881497-110881497

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.337C>T; p.P113S; 10:110881526-110881526

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.498G>T; p.K166N; 10:110885309-110885309

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.867G>A; p.V289V; 10:110889622-110889622

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.867G>A; p.V289V; 10:110889622-110889622

 skinmalignant_melanomaSubstitution - coding silent

c.358G>C; p.G120R; 10:110883014-110883014

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.169G>A; p.A57T; 10:110881358-110881358

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.249C>T; p.D83D; 10:110881438-110881438

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.426_427delCT; p.N142fs*2; 10:110883082-110883083

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.870G>T; p.Q290H; 10:110889625-110889625

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.251C>T; p.A84V; 10:110881440-110881440

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.151A>G; p.N51D; 10:110881340-110881340

 skinmalignant_melanomaSubstitution - Missense

c.133A>G; p.I45V; 10:110881322-110881322

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.914C>T; p.S305F; 10:110890594-110890594

 skinmalignant_melanomaSubstitution - Missense

c.442-1G>A; p.?; 10:110885252-110885252

 skinmalignant_melanomaUnknown

c.77G>A; p.G26D; 10:110881266-110881266

 central_nervous_system; braingliomaSubstitution - Missense

c.533A>G; p.H178R; 10:110885344-110885344

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.764C>A; p.P255H; 10:110887873-110887873

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.866T>C; p.V289A; 10:110889621-110889621

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.330G>T; p.R110S; 10:110881519-110881519

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1373A>G; p.E458G; 10:110898051-110898051

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1071T>G; p.P357P; 10:110894171-110894171

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.923G>C; p.G308A; 10:110890603-110890603

 breastcarcinomaSubstitution - Missense

c.960G>C; p.G320G; 10:110890640-110890640

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1071T>C; p.P357P; 10:110894171-110894171

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.621A>T; p.L207F; 10:110887730-110887730

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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