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

Basic Information

Gene ID

11108

Name

PRDM4

Synonymous

PR domain containing 4;PRDM4;PR domain containing 4

Definition

PR domain zinc finger protein 4|PR domain-containing protein 4|PR-domain zinc-finger protein PFM1

Position

12q23-q24.1

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 0.11.

The copy number variations for various cancers

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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.1136T>C; p.L379P; 12:107746415-107746415

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2296G>T; p.E766*; 12:107734320-107734320

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1761A>C; p.E587D; 12:107741109-107741109

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2334T>C; p.S778S; 12:107734282-107734282

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.901G>A; p.V301M; 12:107751640-107751640

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2389_2392delCTTT; p.S798fs*>3; 12:107734224-107734227

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.353A>C; p.D118A; 12:107752188-107752188

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1542C>T; p.T514T; 12:107742288-107742288

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.300G>A; p.L100L; 12:107753955-107753955

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2379G>A; p.A793A; 12:107734237-107734237

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2379G>A; p.A793A; 12:107734237-107734237

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2264C>T; p.P755L; 12:107734352-107734352

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1800C>T; p.I600I; 12:107741070-107741070

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1959G>T; p.K653N; 12:107739517-107739517

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.246G>A; p.M82I; 12:107754009-107754009

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.502C>T; p.R168C; 12:107752039-107752039

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1157C>T; p.S386L; 12:107746394-107746394

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1950G>C; p.L650F; 12:107739526-107739526

 breastcarcinomaSubstitution - Missense

c.907C>T; p.L303F; 12:107751634-107751634

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.907C>T; p.L303F; 12:107751634-107751634

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1071G>A; p.L357L; 12:107751470-107751470

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1776C>A; p.C592*; 12:107741094-107741094

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1638C>A; p.L546L; 12:107741232-107741232

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2296G>C; p.E766Q; 12:107734320-107734320

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.2392_2395delTCTG; p.S798fs*>3; 12:107734221-107734224

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.1472G>A; p.R491H; 12:107743206-107743206

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1307G>T; p.R436L; 12:107744631-107744631

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2387C>A; p.S796Y; 12:107734229-107734229

 thyroidcarcinomaSubstitution - Missense

c.2113_2114CC>TT; p.P705F; 12:107734502-107734503

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.968G>A; p.S323N; 12:107751573-107751573

 breastcarcinomaSubstitution - Missense

c.524C>T; p.A175V; 12:107752017-107752017

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2149T>A; p.L717I; 12:107734467-107734467

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.199G>A; p.A67T; 12:107754056-107754056

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.199G>A; p.A67T; 12:107754056-107754056

 stomachadenocarcinomaSubstitution - Missense

c.836G>A; p.G279D; 12:107751705-107751705

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.836G>A; p.G279D; 12:107751705-107751705

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.836G>A; p.G279D; 12:107751705-107751705

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1616C>A; p.P539H; 12:107741254-107741254

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1900C>T; p.R634W; 12:107740970-107740970

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2313A>C; p.E771D; 12:107734303-107734303

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1249C>T; p.R417C; 12:107746302-107746302

 prostatecarcinomaSubstitution - Missense

c.1653G>T; p.K551N; 12:107741217-107741217

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.256C>T; p.P86S; 12:107753999-107753999

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2086C>A; p.H696N; 12:107739390-107739390

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.987C>T; p.V329V; 12:107751554-107751554

 skinmalignant_melanomaSubstitution - coding silent

c.451C>T; p.Q151*; 12:107752090-107752090

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1072C>T; p.Q358*; 12:107751469-107751469

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2372A>G; p.Y791C; 12:107734244-107734244

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.493A>G; p.I165V; 12:107752048-107752048

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2404T>A; p.*802K; 12:107734212-107734212

 kidneycarcinoma; clear_cell_renal_cell_carcinomaNonstop extension

c.2404T>A; p.*802K; 12:107734212-107734212

 kidneycarcinoma; clear_cell_renal_cell_carcinomaNonstop extension

c.2404T>A; p.*802K; 12:107734212-107734212

 kidneycarcinoma; clear_cell_renal_cell_carcinomaNonstop extension

c.2404T>A; p.*802K; 12:107734212-107734212

 kidneycarcinoma; clear_cell_renal_cell_carcinomaNonstop extension

c.585G>T; p.E195D; 12:107751956-107751956

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.544G>T; p.D182Y; 12:107751997-107751997

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2154G>A; p.K718K; 12:107734462-107734462

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.90A>C; p.S30S; 12:107756887-107756887

 skinmalignant_melanomaSubstitution - coding silent

c.1035A>G; p.V345V; 12:107751506-107751506

 livercarcinomaSubstitution - coding silent

c.1035A>G; p.V345V; 12:107751506-107751506

 livercarcinomaSubstitution - coding silent

c.1932G>A; p.K644K; 12:107739544-107739544

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2009G>A; p.G670E; 12:107739467-107739467

 skinmalignant_melanomaSubstitution - Missense

c.1417G>A; p.E473K; 12:107743261-107743261

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.293C>T; p.P98L; 12:107753962-107753962

 skinmalignant_melanomaSubstitution - Missense

c.1442A>G; p.E481G; 12:107743236-107743236

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2098C>T; p.R700C; 12:107734518-107734518

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.535C>T; p.H179Y; 12:107752006-107752006

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.301G>A; p.E101K; 12:107753954-107753954

 pancreascarcinomaSubstitution - Missense

c.2073G>A; p.Q691Q; 12:107739403-107739403

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.703C>T; p.L235L; 12:107751838-107751838

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2235C>T; p.L745L; 12:107734381-107734381

 prostatecarcinomaSubstitution - coding silent

c.1276+1G>A; p.?; 12:107746274-107746274

 breastcarcinoma; ductal_carcinomaUnknown

c.445C>T; p.P149S; 12:107752096-107752096

 skin; shouldermalignant_melanomaSubstitution - Missense

c.445C>T; p.P149S; 12:107752096-107752096

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.269A>G; p.Y90C; 12:107753986-107753986

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2089A>G; p.T697A; 12:107739387-107739387

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1687C>T; p.L563L; 12:107741183-107741183

 breastcarcinomaSubstitution - coding silent

c.255A>G; p.L85L; 12:107754000-107754000

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1703A>G; p.H568R; 12:107741167-107741167

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1033G>A; p.V345I; 12:107751508-107751508

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.668C>T; p.S223F; 12:107751873-107751873

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1117T>C; p.F373L; 12:107751424-107751424

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.224G>A; p.G75D; 12:107754031-107754031

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1924+2T>C; p.?; 12:107740944-107740944

 oesophaguscarcinoma; adenocarcinomaUnknown

c.748G>A; p.G250R; 12:107751793-107751793

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.317G>C; p.R106T; 12:107753938-107753938

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2147A>T; p.H716L; 12:107734469-107734469

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.904G>T; p.A302S; 12:107751637-107751637

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.482G>C; p.G161A; 12:107752059-107752059

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2239C>A; p.R747S; 12:107734377-107734377

 skinmalignant_melanomaSubstitution - Missense

c.610A>G; p.I204V; 12:107751931-107751931

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.661G>T; p.E221*; 12:107751880-107751880

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1403A>G; p.H468R; 12:107743275-107743275

 breastcarcinomaSubstitution - Missense

c.1852C>T; p.H618Y; 12:107741018-107741018

 thyroidcarcinomaSubstitution - Missense

c.145G>T; p.G49C; 12:107756832-107756832

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.923A>G; p.N308S; 12:107751618-107751618

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2182C>T; p.R728W; 12:107734434-107734434

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.833A>T; p.N278I; 12:107751708-107751708

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.893C>G; p.S298C; 12:107751648-107751648

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2385G>A; p.E795E; 12:107734231-107734231

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.265A>C; p.N89H; 12:107753990-107753990

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2198A>G; p.E733G; 12:107734418-107734418

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.727A>T; p.N243Y; 12:107751814-107751814

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2229C>T; p.Y743Y; 12:107734387-107734387

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.87C>G; p.V29V; 12:107756890-107756890

 breastcarcinomaSubstitution - coding silent

c.1453A>G; p.N485D; 12:107743225-107743225

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.623G>C; p.G208A; 12:107751918-107751918

 breastcarcinomaSubstitution - Missense

c.1730G>A; p.S577N; 12:107741140-107741140

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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