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

Basic Information

Gene ID

5625

Name

PRODH

Synonymous

proline dehydrogenase (oxidase) 1;PRODH;proline dehydrogenase (oxidase) 1

Definition

p53-induced gene 6 protein|proline dehydrogenase 1, mitochondrial|proline oxidase 2|proline oxidase, mitochondrial|tumor protein p53 inducible protein 6

Position

22q11.21

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 0.06.

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.868G>T; p.G290C; 22:18922386-18922386

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1441G>A; p.V481M; 22:18916975-18916975

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.534C>A; p.D178E; 22:18925184-18925184

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.418G>A; p.A140T; 22:18931054-18931054

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.418G>A; p.A140T; 22:18931054-18931054

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.418G>A; p.A140T; 22:18931054-18931054

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.418G>A; p.A140T; 22:18931054-18931054

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1068G>T; p.M356I; 22:18919742-18919742

 oesophaguscarcinomaSubstitution - Missense

c.915C>T; p.T305T; 22:18922339-18922339

 skinmalignant_melanomaSubstitution - coding silent

c.1357C>T; p.R453C; 22:18918386-18918386

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.624C>T; p.C208C; 22:18925094-18925094

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.486C>G; p.S162S; 22:18925719-18925719

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.416G>A; p.S139N; 22:18931056-18931056

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.719G>A; p.R240K; 22:18923128-18923128

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.510T>A; p.D170E; 22:18925695-18925695

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1057G>A; p.E353K; 22:18919753-18919753

 oesophaguscarcinomaSubstitution - Missense

c.956G>A; p.S319N; 22:18921397-18921397

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.789G>A; p.V263V; 22:18922877-18922877

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1239G>T; p.Q413H; 22:18919463-18919463

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.517+2T>C; p.?; 22:18925686-18925686

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1137G>A; p.V379V; 22:18919565-18919565

 skinmalignant_melanomaSubstitution - coding silent

c.593G>A; p.R198H; 22:18925125-18925125

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.593G>A; p.R198H; 22:18925125-18925125

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.822C>T; p.D274D; 22:18922844-18922844

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.561C>T; p.F187F; 22:18925157-18925157

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.561C>T; p.F187F; 22:18925157-18925157

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.561C>T; p.F187F; 22:18925157-18925157

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1295G>A; p.R432H; 22:18918448-18918448

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1562G>A; p.R521Q; 22:18913491-18913491

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1122C>T; p.G374G; 22:18919580-18919580

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.449T>C; p.L150P; 22:18931023-18931023

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.824C>A; p.T275N; 22:18922842-18922842

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.824C>A; p.T275N; 22:18922842-18922842

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1463A>G; p.N488S; 22:18916953-18916953

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.532G>A; p.D178N; 22:18925186-18925186

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1356C>A; p.A452A; 22:18918387-18918387

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.277C>T; p.L93L; 22:18931195-18931195

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1292G>A; p.R431H; 22:18918451-18918451

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1292G>A; p.R431H; 22:18918451-18918451

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1298A>T; p.E433V; 22:18918445-18918445

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1292G>A; p.R431H; 22:18918451-18918451

 thyroidother; neoplasmSubstitution - Missense

c.1464C>T; p.N488N; 22:18916952-18916952

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1495A>G; p.N499D; 22:18916921-18916921

 skinmalignant_melanomaSubstitution - Missense

c.1413C>T; p.N471N; 22:18918330-18918330

 skinmalignant_melanomaSubstitution - coding silent

c.1515T>C; p.F505F; 22:18916901-18916901

 thyroidother; neoplasmSubstitution - coding silent

c.1515T>C; p.F505F; 22:18916901-18916901

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1006G>A; p.A336T; 22:18921347-18921347

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.544C>T; p.Q182*; 22:18925174-18925174

 skinmalignant_melanomaSubstitution - Nonsense

c.409G>T; p.G137C; 22:18931063-18931063

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1050G>T; p.E350D; 22:18919760-18919760

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.577G>A; p.G193S; 22:18925141-18925141

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1729C>T; p.R577W; 22:18913249-18913249

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.886G>C; p.E296Q; 22:18922368-18922368

 oesophaguscarcinomaSubstitution - Missense

c.274-2A>T; p.?; 22:18931200-18931200

 lungcarcinoma; adenocarcinomaUnknown

c.1167C>A; p.A389A; 22:18919535-18919535

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.678C>T; p.S226S; 22:18923169-18923169

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.445G>T; p.D149Y; 22:18931027-18931027

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.850G>A; p.E284K; 22:18922404-18922404

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.853_854insA; p.S285fs*12; 22:18922400-18922401

 breastcarcinomaInsertion - Frameshift

c.500C>T; p.A167V; 22:18925705-18925705

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1731G>A; p.R577R; 22:18913247-18913247

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1462A>G; p.N488D; 22:18916954-18916954

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1694C>T; p.A565V; 22:18913284-18913284

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.951G>A; p.W317*; 22:18921402-18921402

 breastcarcinomaSubstitution - Nonsense

c.661G>A; p.A221T; 22:18925057-18925057

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1328G>A; p.R443Q; 22:18918415-18918415

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.649C>T; p.R217C; 22:18925069-18925069

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1109C>T; p.A370V; 22:18919593-18919593

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.1643A>G; p.Y548C; 22:18913335-18913335

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1741C>T; p.L581L; 22:18913237-18913237

 thyroidother; neoplasmSubstitution - coding silent

c.417C>T; p.S139S; 22:18931055-18931055

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.905C>T; p.T302M; 22:18922349-18922349

 pancreascarcinomaSubstitution - Missense

c.1144G>A; p.E382K; 22:18919558-18919558

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1362G>A; p.A454A; 22:18918381-18918381

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.667+3G>A; p.?; 22:18925048-18925048

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1358G>A; p.R453H; 22:18918385-18918385

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.530G>A; p.R177Q; 22:18925188-18925188

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.1368G>A; p.E456E; 22:18918375-18918375

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.554G>A; p.W185*; 22:18925164-18925164

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.569G>A; p.R190H; 22:18925149-18925149

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.956G>T; p.S319I; 22:18921397-18921397

 oesophaguscarcinomaSubstitution - Missense

c.391C>T; p.R131W; 22:18931081-18931081

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.964G>A; p.D322N; 22:18921389-18921389

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.330G>A; p.K110K; 22:18931142-18931142

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.56C>A; p.P19Q; 22:18936232-18936232

 thyroidother; neoplasmSubstitution - Missense

c.56C>A; p.P19Q; 22:18936232-18936232

 thyroidother; neoplasmSubstitution - Missense

c.482A>C; p.E161A; 22:18930990-18930990

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1401C>T; p.Y467Y; 22:18918342-18918342

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1401C>T; p.Y467Y; 22:18918342-18918342

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.327G>T; p.M109I; 22:18931145-18931145

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1766G>A; p.R589Q; 22:18913212-18913212

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.503A>G; p.E168G; 22:18925702-18925702

 bone; fibulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.392G>A; p.R131Q; 22:18931080-18931080

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.812C>A; p.A271D; 22:18922854-18922854

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.448C>A; p.L150M; 22:18931024-18931024

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1188G>T; p.E396D; 22:18919514-18919514

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1423C>T; p.H475Y; 22:18918320-18918320

 skinmalignant_melanomaSubstitution - Missense

c.1423C>T; p.H475Y; 22:18918320-18918320

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1068G>A; p.M356I; 22:18919742-18919742

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.685G>T; p.G229C; 22:18923162-18923162

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.685G>T; p.G229C; 22:18923162-18923162

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1251+10C>T; p.?; 22:18919441-18919441

 kidneyother; neoplasmUnknown

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