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

Basic Information

Gene ID

9988

Name

DMTF1

Synonymous

cyclin D binding myb-like transcription factor 1;DMTF1;cyclin D binding myb-like transcription factor 1

Definition

cyclin D-binding Myb-like protein|cyclin-D-binding Myb-like transcription factor 1|cyclin-D-interacting Myb-like protein 1|hDMTF1

Position

7q21

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 0.10.

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.231A>G; p.P77P; 7:87166604-87166604

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1421A>G; p.D474G; 7:87190954-87190954

 oesophaguscarcinomaSubstitution - Missense

c.158G>T; p.R53M; 7:87166531-87166531

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1189G>A; p.V397I; 7:87185968-87185968

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.947G>A; p.R316H; 7:87184523-87184523

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.963T>C; p.C321C; 7:87184539-87184539

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1179C>T; p.N393N; 7:87185958-87185958

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1919G>A; p.S640N; 7:87193993-87193993

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.520-1G>A; p.?; 7:87179544-87179544

 skinmalignant_melanomaUnknown

c.1481T>A; p.F494Y; 7:87191014-87191014

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1219A>G; p.K407E; 7:87188109-87188109

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.972A>G; p.K324K; 7:87184548-87184548

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.512A>C; p.Y171S; 7:87174662-87174662

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.647G>A; p.R216H; 7:87179672-87179672

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.756G>A; p.A252A; 7:87182273-87182273

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.89T>C; p.I30T; 7:87165030-87165030

 skinmalignant_melanomaSubstitution - Missense

c.585C>A; p.F195L; 7:87179610-87179610

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.585C>A; p.F195L; 7:87179610-87179610

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1471C>T; p.L491L; 7:87191004-87191004

 skinmalignant_melanomaSubstitution - coding silent

c.646C>T; p.R216C; 7:87179671-87179671

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.56T>G; p.V19G; 7:87164997-87164997

 skinmalignant_melanomaSubstitution - Missense

c.2191C>A; p.H731N; 7:87195048-87195048

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.292G>A; p.D98N; 7:87171054-87171054

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.655G>A; p.D219N; 7:87179680-87179680

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.780C>T; p.V260V; 7:87182297-87182297

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.7A>G; p.T3A; 7:87164948-87164948

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.7A>G; p.T3A; 7:87164948-87164948

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.378A>T; p.E126D; 7:87173585-87173585

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1439A>T; p.D480V; 7:87190972-87190972

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1501C>T; p.H501Y; 7:87193204-87193204

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1880T>G; p.F627C; 7:87193954-87193954

 pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.946C>T; p.R316C; 7:87184522-87184522

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1142G>A; p.R381Q; 7:87185921-87185921

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.939C>T; p.V313V; 7:87184515-87184515

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.939C>T; p.V313V; 7:87184515-87184515

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1903T>G; p.F635V; 7:87193977-87193977

 pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.2074G>T; p.D692Y; 7:87194729-87194729

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.793C>T; p.R265*; 7:87182310-87182310

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1123C>T; p.R375C; 7:87185902-87185902

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1414T>C; p.S472P; 7:87190947-87190947

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1123C>T; p.R375C; 7:87185902-87185902

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.792C>T; p.C264C; 7:87182309-87182309

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1500C>T; p.F500F; 7:87193203-87193203

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.792C>T; p.C264C; 7:87182309-87182309

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1500C>T; p.F500F; 7:87193203-87193203

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1201+6G>T; p.?; 7:87185986-87185986

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.286G>C; p.A96P; 7:87171048-87171048

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1853A>G; p.H618R; 7:87193927-87193927

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2155C>T; p.P719S; 7:87194810-87194810

 skinmalignant_melanomaSubstitution - Missense

c.1193C>T; p.S398L; 7:87185972-87185972

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2255A>C; p.D752A; 7:87195112-87195112

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2132T>G; p.V711G; 7:87194787-87194787

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.725A>G; p.H242R; 7:87182242-87182242

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1201+8A>C; p.?; 7:87185988-87185988

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.571G>A; p.E191K; 7:87179596-87179596

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1277C>T; p.S426F; 7:87188167-87188167

 skinmalignant_melanomaSubstitution - Missense

c.121A>G; p.I41V; 7:87166494-87166494

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1336C>T; p.R446C; 7:87188226-87188226

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.526G>A; p.G176R; 7:87179551-87179551

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1648T>C; p.S550P; 7:87193351-87193351

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1502A>T; p.H501L; 7:87193205-87193205

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1807C>A; p.P603T; 7:87193881-87193881

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1807C>A; p.P603T; 7:87193881-87193881

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.773C>A; p.S258Y; 7:87182290-87182290

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1604C>T; p.A535V; 7:87193307-87193307

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1604C>T; p.A535V; 7:87193307-87193307

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2094C>T; p.I698I; 7:87194749-87194749

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1201+7T>A; p.?; 7:87185987-87185987

 urinary_tract; bladdercarcinomaUnknown

c.1734G>T; p.E578D; 7:87193808-87193808

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1201+7T>A; p.?; 7:87185987-87185987

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.964C>T; p.R322C; 7:87184540-87184540

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1793C>T; p.S598F; 7:87193867-87193867

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1773C>T; p.V591V; 7:87193847-87193847

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1773C>T; p.V591V; 7:87193847-87193847

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2175T>A; p.D725E; 7:87195032-87195032

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1238delA; p.N415fs*28; 7:87188128-87188128

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1238delA; p.N415fs*28; 7:87188128-87188128

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1238delA; p.N415fs*28; 7:87188128-87188128

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1238delA; p.N415fs*28; 7:87188128-87188128

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.87C>A; p.L29L; 7:87165028-87165028

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2053G>T; p.E685*; 7:87194708-87194708

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.931G>A; p.E311K; 7:87184507-87184507

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.931G>A; p.E311K; 7:87184507-87184507

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.789G>A; p.R263R; 7:87182306-87182306

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1960G>A; p.E654K; 7:87194034-87194034

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1777A>G; p.S593G; 7:87193851-87193851

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1337G>A; p.R446H; 7:87188227-87188227

 bone; pelvischondrosarcomaSubstitution - Missense

c.2039C>A; p.S680Y; 7:87194694-87194694

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1033A>G; p.I345V; 7:87184609-87184609

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1879T>G; p.F627V; 7:87193953-87193953

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1995A>G; p.S665S; 7:87194069-87194069

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1797T>G; p.D599E; 7:87193871-87193871

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.945C>T; p.T315T; 7:87184521-87184521

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2129A>G; p.D710G; 7:87194784-87194784

 breastcarcinomaSubstitution - Missense

c.2123C>T; p.A708V; 7:87194778-87194778

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1760C>T; p.A587V; 7:87193834-87193834

 ovaryother; neoplasmSubstitution - Missense

c.831_833delAGA; p.E281delE; 7:87184407-87184409

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IIDeletion - In frame

c.478G>T; p.E160*; 7:87174628-87174628

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1948A>G; p.R650G; 7:87194022-87194022

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.725A>T; p.H242L; 7:87182242-87182242

 livercarcinomaSubstitution - Missense

c.192_194delTGA; p.D66delD; 7:87166565-87166567

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaDeletion - In frame

c.396A>G; p.Q132Q; 7:87173603-87173603

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.648C>T; p.R216R; 7:87179673-87179673

 ovaryother; neoplasmSubstitution - coding silent

c.508C>T; p.R170C; 7:87174658-87174658

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2090T>G; p.L697R; 7:87194745-87194745

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.196_198delGAT; p.D66delD; 7:87166569-87166571

 prostatecarcinoma; adenocarcinomaDeletion - In frame

c.196_198delGAT; p.D66delD; 7:87166569-87166571

 ovarycarcinomaDeletion - In frame

c.273A>G; p.A91A; 7:87171035-87171035

 thyroidother; neoplasmSubstitution - coding silent

c.943A>G; p.T315A; 7:87184519-87184519

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.794G>A; p.R265Q; 7:87182311-87182311

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.733G>A; p.D245N; 7:87182250-87182250

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - Missense

c.990T>C; p.N330N; 7:87184566-87184566

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

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