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

Basic Information

Gene ID

864

Name

RUNX3

Synonymous

runt-related transcription factor 3;RUNX3;runt-related transcription factor 3

Definition

CBF-alpha-3|PEA2 alpha C|PEA2-alpha C|PEBP2 alpha C|PEBP2-alpha C|SL3-3 enhancer factor 1 alpha C subunit|SL3/AKV core-binding factor alpha C subunit|acute myeloid leukemia 2 protein|acute myeloid leukemia gene 2|core-binding factor subunit alpha-3|core-b

Position

1p36

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 0.09.

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.647G>A; p.R216Q; 1:24907315-24907315

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1161C>T; p.G387G; 1:24902209-24902209

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.79_81delGGC; p.G27delG; 1:24929788-24929790

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.731A>C; p.D244A; 1:24902639-24902639

 ovaryother; neoplasmSubstitution - Missense

c.235C>T; p.L79L; 1:24929634-24929634

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1059C>T; p.G353G; 1:24902311-24902311

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1135_1136CC>TT; p.P379F; 1:24902234-24902235

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.591C>T; p.R197R; 1:24907371-24907371

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.694C>T; p.P232S; 1:24907268-24907268

 skin; extremitymalignant_melanomaSubstitution - Missense

c.854C>T; p.S285L; 1:24902516-24902516

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1170C>T; p.A390A; 1:24902200-24902200

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1170C>T; p.A390A; 1:24902200-24902200

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.520G>A; p.V174M; 1:24919264-24919264

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.376G>A; p.A126T; 1:24927637-24927637

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.983C>T; p.S328F; 1:24902387-24902387

 skinmalignant_melanomaSubstitution - Missense

c.729C>T; p.S243S; 1:24902641-24902641

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.795C>G; p.D265E; 1:24902575-24902575

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.378C>T; p.A126A; 1:24927635-24927635

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.819C>T; p.A273A; 1:24902551-24902551

 skinmalignant_melanomaSubstitution - coding silent

c.1209G>A; p.T403T; 1:24902161-24902161

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1210C>A; p.P404T; 1:24902160-24902160

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.361C>T; p.L121L; 1:24927652-24927652

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.428G>T; p.R143L; 1:24927585-24927585

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.532C>T; p.R178W; 1:24919252-24919252

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.659G>A; p.S220N; 1:24907303-24907303

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.898A>C; p.T300P; 1:24902472-24902472

 breastcarcinomaSubstitution - Missense

c.614G>A; p.R205H; 1:24907348-24907348

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.340G>A; p.D114N; 1:24927673-24927673

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.353_354CC>TT; p.S118F; 1:24927659-24927660

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.598delG; p.D200fs*9; 1:24907364-24907364

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.427C>T; p.R143C; 1:24927586-24927586

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.608G>T; p.R203L; 1:24907354-24907354

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.13G>A; p.V5I; 1:24929856-24929856

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.960C>T; p.S320S; 1:24902410-24902410

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.729C>G; p.S243S; 1:24902641-24902641

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1197G>A; p.T399T; 1:24902173-24902173

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.502C>T; p.R168*; 1:24919282-24919282

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.502C>T; p.R168*; 1:24919282-24919282

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.502C>T; p.R168*; 1:24919282-24919282

 large_intestine; coloncarcinomaSubstitution - Nonsense

c.502C>T; p.R168*; 1:24919282-24919282

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.465T>A; p.T155T; 1:24919319-24919319

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.533G>A; p.R178Q; 1:24919251-24919251

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.330G>T; p.M110I; 1:24927683-24927683

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.762G>T; p.T254T; 1:24902608-24902608

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.330G>T; p.M110I; 1:24927683-24927683

 lungcarcinoma; bronchioloalveolar_adenocarcinomaSubstitution - Missense

c.947C>T; p.P316L; 1:24902423-24902423

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.518C>T; p.T173I; 1:24919266-24919266

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.345G>T; p.E115D; 1:24927668-24927668

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.301G>A; p.V101M; 1:24927712-24927712

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.623T>G; p.V208G; 1:24907339-24907339

 thyroidother; neoplasmSubstitution - Missense

c.844G>T; p.A282S; 1:24902526-24902526

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.274G>T; p.A92S; 1:24929595-24929595

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1236G>T; p.W412C; 1:24902134-24902134

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.847_848AC>CA; p.T283Q; 1:24902522-24902523

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.894G>A; p.P298P; 1:24902476-24902476

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.375G>T; p.S125S; 1:24927638-24927638

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.172G>C; p.V58L; 1:24929697-24929697

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.145C>A; p.R49R; 1:24929724-24929724

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.926C>T; p.P309L; 1:24902444-24902444

 pancreascarcinomaSubstitution - Missense

c.879C>T; p.S293S; 1:24902491-24902491

 breastcarcinomaSubstitution - coding silent

c.276C>A; p.A92A; 1:24929593-24929593

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.830C>T; p.A277V; 1:24902540-24902540

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.748C>T; p.R250C; 1:24902622-24902622

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.243G>T; p.S81S; 1:24929626-24929626

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.550C>T; p.R184W; 1:24907412-24907412

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.437G>C; p.R146P; 1:24927576-24927576

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.222C>T; p.F74F; 1:24929647-24929647

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.776C>T; p.T259M; 1:24902594-24902594

 pancreascarcinomaSubstitution - Missense

c.800G>T; p.R267M; 1:24902570-24902570

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.943delG; p.A315fs*63; 1:24902427-24902427

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1215C>T; p.G405G; 1:24902155-24902155

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.980C>T; p.P327L; 1:24902390-24902390

 central_nervous_system; braingliomaSubstitution - Missense

c.525C>T; p.D175D; 1:24919259-24919259

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.700C>T; p.Q234*; 1:24907262-24907262

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.244C>A; p.H82N; 1:24929625-24929625

 breastcarcinomaSubstitution - Missense

c.629C>T; p.P210L; 1:24907333-24907333

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.844G>A; p.A282T; 1:24902526-24902526

 livercarcinomaSubstitution - Missense

c.1084G>A; p.A362T; 1:24902286-24902286

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.613C>T; p.R205C; 1:24907349-24907349

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.613C>T; p.R205C; 1:24907349-24907349

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.526G>A; p.G176R; 1:24919258-24919258

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.826G>A; p.A276T; 1:24902544-24902544

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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