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

Basic Information

Gene ID

3175

Name

ONECUT1

Synonymous

one cut homeobox 1;ONECUT1;one cut homeobox 1

Definition

hepatocyte nuclear factor 6|hepatocyte nuclear factor 6, alpha|one cut domain family member 1

Position

15q21.3

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 0.07.

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.628G>A; p.D210N; 15:52789257-52789257

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1056G>T; p.K352N; 15:52788829-52788829

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1051T>C; p.W351R; 15:52788834-52788834

 breastcarcinomaSubstitution - Missense

c.876C>G; p.I292M; 15:52789009-52789009

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.540G>A; p.S180S; 15:52789345-52789345

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1025C>T; p.S342F; 15:52788860-52788860

 skinmalignant_melanomaSubstitution - Missense

c.875T>C; p.I292T; 15:52789010-52789010

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1346G>A; p.S449N; 15:52757607-52757607

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.727C>T; p.P243S; 15:52789158-52789158

 stomachadenocarcinomaSubstitution - Missense

c.840C>T; p.V280V; 15:52789045-52789045

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1031G>A; p.R344Q; 15:52788854-52788854

 breastcarcinomaSubstitution - Missense

c.1031G>A; p.R344Q; 15:52788854-52788854

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1031G>A; p.R344Q; 15:52788854-52788854

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.481A>C; p.M161L; 15:52789404-52789404

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1216G>A; p.E406K; 15:52757737-52757737

 skinmalignant_melanomaSubstitution - Missense

c.1292delA; p.N431fs*4; 15:52757661-52757661

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.735C>T; p.N245N; 15:52789150-52789150

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.520G>A; p.G174S; 15:52789365-52789365

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1212C>G; p.F404L; 15:52757741-52757741

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1269G>A; p.G423G; 15:52757684-52757684

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.120C>G; p.H40Q; 15:52789765-52789765

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.490C>A; p.L164I; 15:52789395-52789395

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1047G>A; p.R349R; 15:52788838-52788838

 skinmalignant_melanomaSubstitution - coding silent

c.1225C>A; p.R409S; 15:52757728-52757728

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.243C>T; p.G81G; 15:52789642-52789642

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.192C>T; p.G64G; 15:52789693-52789693

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1090G>T; p.A364S; 15:52788795-52788795

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.223C>G; p.P75A; 15:52789662-52789662

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.951G>T; p.Q317H; 15:52788934-52788934

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.527G>A; p.G176D; 15:52789358-52789358

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.527G>A; p.G176D; 15:52789358-52789358

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.527G>A; p.G176D; 15:52789358-52789358

 large_intestine; coloncarcinomaSubstitution - Missense

c.527G>A; p.G176D; 15:52789358-52789358

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.404C>T; p.P135L; 15:52789481-52789481

 skinmalignant_melanomaSubstitution - Missense

c.873G>C; p.E291D; 15:52789012-52789012

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.810G>A; p.E270E; 15:52789075-52789075

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.476C>A; p.A159D; 15:52789409-52789409

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.893C>T; p.A298V; 15:52788992-52788992

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.298C>T; p.P100S; 15:52789587-52789587

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.241G>A; p.G81S; 15:52789644-52789644

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.806G>A; p.R269Q; 15:52789079-52789079

 breastcarcinomaSubstitution - Missense

c.916A>G; p.K306E; 15:52788969-52788969

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.103C>T; p.R35C; 15:52789782-52789782

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.457C>T; p.R153W; 15:52789428-52789428

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1370C>A; p.S457Y; 15:52757583-52757583

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.559C>T; p.L187L; 15:52789326-52789326

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.885A>C; p.K295N; 15:52789000-52789000

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.724G>T; p.V242L; 15:52789161-52789161

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.676C>T; p.L226F; 15:52789209-52789209

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.624C>T; p.P208P; 15:52789261-52789261

 skinmalignant_melanomaSubstitution - coding silent

c.444C>A; p.S148R; 15:52789441-52789441

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.687C>T; p.H229H; 15:52789198-52789198

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.977C>T; p.T326I; 15:52788908-52788908

 skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.654C>T; p.F218F; 15:52789231-52789231

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.654C>T; p.F218F; 15:52789231-52789231

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.805C>G; p.R269G; 15:52789080-52789080

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.412C>T; p.H138Y; 15:52789473-52789473

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.994C>T; p.R332C; 15:52788891-52788891

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1330T>A; p.W444R; 15:52757623-52757623

 livercarcinomaSubstitution - Missense

c.900T>C; p.R300R; 15:52788985-52788985

 livercarcinomaSubstitution - coding silent

c.953G>T; p.R318M; 15:52788932-52788932

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1330T>A; p.W444R; 15:52757623-52757623

 livercarcinomaSubstitution - Missense

c.900T>C; p.R300R; 15:52788985-52788985

 livercarcinomaSubstitution - coding silent

c.736G>T; p.G246C; 15:52789149-52789149

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1305C>T; p.N435N; 15:52757648-52757648

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1305C>T; p.N435N; 15:52757648-52757648

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1305C>T; p.N435N; 15:52757648-52757648

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.183C>T; p.G61G; 15:52789702-52789702

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1193G>A; p.R398Q; 15:52757760-52757760

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1193G>A; p.R398Q; 15:52757760-52757760

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1193G>A; p.R398Q; 15:52757760-52757760

 skinmalignant_melanomaSubstitution - Missense

c.1012A>G; p.S338G; 15:52788873-52788873

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.787C>A; p.Q263K; 15:52789098-52789098

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.552C>T; p.S184S; 15:52789333-52789333

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1215G>A; p.K405K; 15:52757738-52757738

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.919C>T; p.R307C; 15:52788966-52788966

 prostatecarcinomaSubstitution - Missense

c.919C>T; p.R307C; 15:52788966-52788966

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.945C>T; p.F315F; 15:52788940-52788940

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.540G>T; p.S180S; 15:52789345-52789345

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.1043G>A; p.R348Q; 15:52788842-52788842

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.725T>C; p.V242A; 15:52789160-52789160

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1096C>T; p.R366C; 15:52788789-52788789

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.274G>T; p.E92*; 15:52789611-52789611

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1105G>A; p.A369T; 15:52788780-52788780

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.962G>A; p.C321Y; 15:52788923-52788923

 breastcarcinomaSubstitution - Missense

c.1159A>G; p.K387E; 15:52757794-52757794

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.778G>A; p.G260S; 15:52789107-52789107

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.609G>A; p.P203P; 15:52789276-52789276

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.792C>T; p.L264L; 15:52789093-52789093

 skinmalignant_melanomaSubstitution - coding silent

c.1192C>T; p.R398*; 15:52757761-52757761

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.1270T>A; p.L424M; 15:52757683-52757683

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1270T>A; p.L424M; 15:52757683-52757683

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.947C>T; p.A316V; 15:52788938-52788938

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.122G>A; p.R41H; 15:52789763-52789763

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.991C>T; p.L331L; 15:52788894-52788894

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1102G>C; p.A368P; 15:52788783-52788783

 breastcarcinomaSubstitution - Missense

c.1336G>T; p.D446Y; 15:52757617-52757617

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.362A>C; p.K121T; 15:52789523-52789523

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1063_1065delCAG; p.Q355delQ; 15:52788820-52788822

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - In frame

c.698A>G; p.H233R; 15:52789187-52789187

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1185C>T; p.V395V; 15:52757768-52757768

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.650G>A; p.G217D; 15:52789235-52789235

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.449C>T; p.T150M; 15:52789436-52789436

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.64C>T; p.P22S; 15:52789821-52789821

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1226G>A; p.R409H; 15:52757727-52757727

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.522C>T; p.G174G; 15:52789363-52789363

 skinmalignant_melanomaSubstitution - coding silent

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