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

Basic Information

Gene ID

860

Name

RUNX2

Synonymous

runt-related transcription factor 2;RUNX2;runt-related transcription factor 2

Definition

PEA2-alpha A|PEBP2-alpha A|SL3-3 enhancer factor 1 alpha A subunit|SL3/AKV core-binding factor alpha A subunit|acute myeloid leukemia 3 protein|core-binding factor, runt domain, alpha subunit 1|oncogene AML-3|osteoblast-specific transcription factor 2|pol

Position

6p21

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 0.23.

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.1397C>T; p.P466L; 6:45547136-45547136

 skin; neckmalignant_melanomaSubstitution - Missense

c.1485C>T; p.D495D; 6:45547224-45547224

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1485C>T; p.D495D; 6:45547224-45547224

 stomachadenocarcinomaSubstitution - coding silent

c.195A>G; p.Q65Q; 6:45422729-45422729

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.195A>G; p.Q65Q; 6:45422729-45422729

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.195A>G; p.Q65Q; 6:45422729-45422729

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.195A>G; p.Q65Q; 6:45422729-45422729

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.195A>G; p.Q65Q; 6:45422729-45422729

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.195A>G; p.Q65Q; 6:45422729-45422729

 central_nervous_system; braingliomaSubstitution - coding silent

c.195A>G; p.Q65Q; 6:45422729-45422729

 central_nervous_system; braingliomaSubstitution - coding silent

c.195A>G; p.Q65Q; 6:45422729-45422729

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.792G>A; p.Q264Q; 6:45492047-45492047

 skinmalignant_melanomaSubstitution - coding silent

c.567C>T; p.G189G; 6:45432006-45432006

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1088G>C; p.G363A; 6:45546827-45546827

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.496G>A; p.A166T; 6:45431935-45431935

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.501G>T; p.E167D; 6:45431940-45431940

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1243A>G; p.T415A; 6:45546982-45546982

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.568C>T; p.R190W; 6:45432007-45432007

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1532G>A; p.G511D; 6:45547271-45547271

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.999C>T; p.T333T; 6:45512385-45512385

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1380delG; p.G462fs*22; 6:45547119-45547119

 breastcarcinoma; basal_(triple-negative)_carcinomaDeletion - Frameshift

c.1380delG; p.G462fs*22; 6:45547119-45547119

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.558A>C; p.R186S; 6:45431997-45431997

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.940T>C; p.S314P; 6:45512326-45512326

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.733C>T; p.R245C; 6:45491988-45491988

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1378C>T; p.P460S; 6:45547117-45547117

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.606C>T; p.T202T; 6:45437972-45437972

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.984G>A; p.G328G; 6:45512370-45512370

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.975G>T; p.R325R; 6:45512361-45512361

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1206G>A; p.P402P; 6:45546945-45546945

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.660A>C; p.T220T; 6:45438026-45438026

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1414C>A; p.P472T; 6:45547153-45547153

 livercarcinomaSubstitution - Missense

c.1414C>A; p.P472T; 6:45547153-45547153

 livercarcinomaSubstitution - Missense

c.1010G>T; p.R337M; 6:45512396-45512396

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1010G>T; p.R337M; 6:45512396-45512396

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1565G>T; p.*522L; 6:45547304-45547304

 large_intestine; rectumcarcinoma; adenocarcinomaNonstop extension

c.473C>T; p.A158V; 6:45431912-45431912

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.217_246del30; p.A80_A89del10; 6:45422751-45422780

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisDeletion - In frame

c.489T>G; p.N163K; 6:45431928-45431928

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1107T>C; p.P369P; 6:45546846-45546846

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1096G>T; p.E366*; 6:45546835-45546835

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.801G>A; p.R267R; 6:45492056-45492056

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.795C>A; p.N265K; 6:45492050-45492050

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.974G>C; p.R325P; 6:45512360-45512360

 skinmalignant_melanomaSubstitution - Missense

c.1068C>T; p.L356L; 6:45545263-45545263

 breastcarcinomaSubstitution - coding silent

c.1533C>T; p.G511G; 6:45547272-45547272

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.160_180del21; p.Q65_Q71delQQQQQQQ; 6:45422694-45422714

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - In frame

c.918C>A; p.Y306*; 6:45512304-45512304

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.684A>T; p.R228S; 6:45438050-45438050

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.684A>T; p.R228S; 6:45438050-45438050

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1349C>T; p.S450L; 6:45547088-45547088

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1349C>T; p.S450L; 6:45547088-45547088

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1088-1G>A; p.?; 6:45546826-45546826

 skinmalignant_melanomaUnknown

c.959C>T; p.P320L; 6:45512345-45512345

 skinmalignant_melanomaSubstitution - Missense

c.414G>A; p.V138V; 6:45422948-45422948

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.211C>G; p.Q71E; 6:45422745-45422745

 skinmalignant_melanomaSubstitution - Missense

c.211C>G; p.Q71E; 6:45422745-45422745

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1396C>T; p.P466S; 6:45547135-45547135

 skinmalignant_melanomaSubstitution - Missense

c.231T>G; p.A77A; 6:45422765-45422765

 livercarcinomaSubstitution - coding silent

c.506G>A; p.R169Q; 6:45431945-45431945

 skinmalignant_melanomaSubstitution - Missense

c.506G>A; p.R169Q; 6:45431945-45431945

 breastcarcinomaSubstitution - Missense

c.480C>A; p.N160K; 6:45431919-45431919

 prostatecarcinomaSubstitution - Missense

c.1397C>A; p.P466H; 6:45547136-45547136

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.187C>T; p.Q63*; 6:45422721-45422721

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1021G>T; p.D341Y; 6:45512407-45512407

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1397C>A; p.P466H; 6:45547136-45547136

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.189G>A; p.Q63Q; 6:45422723-45422723

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1325C>G; p.T442S; 6:45547064-45547064

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1400C>T; p.S467F; 6:45547139-45547139

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1019C>A; p.S340*; 6:45512405-45512405

 breastcarcinomaSubstitution - Nonsense

c.859+1G>A; p.?; 6:45492115-45492115

 skinmalignant_melanomaUnknown

c.1231G>A; p.G411S; 6:45546970-45546970

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1231G>A; p.G411S; 6:45546970-45546970

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1203C>T; p.T401T; 6:45546942-45546942

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.174A>G; p.Q58Q; 6:45422708-45422708

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.174A>G; p.Q58Q; 6:45422708-45422708

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.174A>G; p.Q58Q; 6:45422708-45422708

 skinmalignant_melanomaSubstitution - coding silent

c.175_177delCAG; p.Q71delQ; 6:45422709-45422711

 skinmalignant_melanomaDeletion - In frame

c.174A>G; p.Q58Q; 6:45422708-45422708

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.310G>T; p.E104*; 6:45422844-45422844

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.217_234del18; p.A84_A89delAAAAAA; 6:45422751-45422768

 salivary_glandcarcinoma; adenoid_cystic_carcinomaDeletion - In frame

c.1369C>T; p.P457S; 6:45547108-45547108

 skinmalignant_melanomaSubstitution - Missense

c.969C>A; p.S323S; 6:45512355-45512355

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1333C>A; p.L445I; 6:45547072-45547072

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.557G>T; p.R186I; 6:45431996-45431996

 breastcarcinomaSubstitution - Missense

c.1222A>T; p.M408L; 6:45546961-45546961

 thyroidother; neoplasmSubstitution - Missense

c.1355G>A; p.G452E; 6:45547094-45547094

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.782T>C; p.V261A; 6:45492037-45492037

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.180G>A; p.Q60Q; 6:45422714-45422714

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.957C>A; p.T319T; 6:45512343-45512343

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1205C>T; p.P402L; 6:45546944-45546944

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.574G>T; p.G192*; 6:45432013-45432013

 breastcarcinomaSubstitution - Nonsense

c.58G>A; p.D20N; 6:45328784-45328784

 skinmalignant_melanomaSubstitution - Missense

c.1442C>T; p.T481M; 6:45547181-45547181

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.607G>T; p.V203F; 6:45437973-45437973

 livercarcinomaSubstitution - Missense

c.820C>T; p.P274S; 6:45492075-45492075

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.464C>T; p.T155I; 6:45431903-45431903

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1089T>C; p.G363G; 6:45546828-45546828

 livercarcinomaSubstitution - coding silent

c.1089T>C; p.G363G; 6:45546828-45546828

 livercarcinomaSubstitution - coding silent

c.550G>A; p.D184N; 6:45431989-45431989

 large_intestine; colonadenomaSubstitution - Missense

c.324C>T; p.D108D; 6:45422858-45422858

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.550G>A; p.D184N; 6:45431989-45431989

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.550G>A; p.D184N; 6:45431989-45431989

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.512C>T; p.A171V; 6:45431951-45431951

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.379C>A; p.P127T; 6:45422913-45422913

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.349G>A; p.D117N; 6:45422883-45422883

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1187C>T; p.A396V; 6:45546926-45546926

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.349G>A; p.D117N; 6:45422883-45422883

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1118C>G; p.P373R; 6:45546857-45546857

 breastcarcinomaSubstitution - Missense

c.1083G>T; p.Q361H; 6:45545278-45545278

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1413G>T; p.P471P; 6:45547152-45547152

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1034C>A; p.A345D; 6:45545229-45545229

 kidneyother; neoplasmSubstitution - Missense

c.1034C>A; p.A345D; 6:45545229-45545229

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.973C>A; p.R325R; 6:45512359-45512359

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.84delC; p.S31fs*9; 6:45422618-45422618

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.84delC; p.S31fs*9; 6:45422618-45422618

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.734G>A; p.R245H; 6:45491989-45491989

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.84delC; p.S31fs*9; 6:45422618-45422618

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.84delC; p.S31fs*9; 6:45422618-45422618

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.84delC; p.S31fs*9; 6:45422618-45422618

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.84delC; p.S31fs*9; 6:45422618-45422618

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.84delC; p.S31fs*9; 6:45422618-45422618

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1345A>G; p.T449A; 6:45547084-45547084

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1508C>A; p.S503Y; 6:45547247-45547247

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1307C>A; p.P436H; 6:45547046-45547046

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.78C>T; p.R26R; 6:45422612-45422612

 ovaryother; neoplasmSubstitution - coding silent

c.435C>T; p.L145L; 6:45431874-45431874

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1540G>A; p.D514N; 6:45547279-45547279

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1225T>C; p.S409P; 6:45546964-45546964

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.233C>A; p.A78E; 6:45422767-45422767

 livercarcinomaSubstitution - Missense

c.233C>A; p.A78E; 6:45422767-45422767

 livercarcinomaSubstitution - Missense

c.192G>A; p.Q64Q; 6:45422726-45422726

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.192G>A; p.Q64Q; 6:45422726-45422726

 central_nervous_system; braingliomaSubstitution - coding silent

c.192G>A; p.Q64Q; 6:45422726-45422726

 central_nervous_system; braingliomaSubstitution - coding silent

c.960G>T; p.P320P; 6:45512346-45512346

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1430C>T; p.S477L; 6:45547169-45547169

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.477delT; p.N160fs*16; 6:45431916-45431916

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.86C>A; p.P29H; 6:45422620-45422620

 pancreascarcinomaSubstitution - Missense

c.86C>A; p.P29H; 6:45422620-45422620

 pancreascarcinomaSubstitution - Missense

c.458T>C; p.V153A; 6:45431897-45431897

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.925C>G; p.Q309E; 6:45512311-45512311

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1442_1443insG; p.L482fs*8; 6:45547181-45547182

 endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.607G>A; p.V203I; 6:45437973-45437973

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.607G>A; p.V203I; 6:45437973-45437973

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.965C>T; p.S322F; 6:45512351-45512351

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1005G>A; p.V335V; 6:45512391-45512391

 skinmalignant_melanomaSubstitution - coding silent

c.1380G>A; p.P460P; 6:45547119-45547119

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.363C>T; p.F121F; 6:45422897-45422897

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.732C>T; p.D244D; 6:45491987-45491987

 kidneyother; neoplasmSubstitution - coding silent

c.732C>T; p.D244D; 6:45491987-45491987

 kidneyother; neoplasmSubstitution - coding silent

c.732C>T; p.D244D; 6:45491987-45491987

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

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