| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 860 |
Name | RUNX2 |
Synonymous | AML3|CBFA1|CCD|CCD1|OSF-2|OSF2|PEA2aA|PEBP2A1|PEBP2A2|PEBP2aA|PEBP2aA1;runt-related transcription factor 2;RUNX2;runt-related transcription factor 2 |
Definition | CBF-alpha-1|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 |
Position | 6p21 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for RUNX2 | ||
PCGP somatic mutation [Top] | ||
There is no record for RUNX2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1397C>T; p.P466L; |
skin; neck | malignant_melanoma |
c.175_177delCAG; p.Q71delQ; |
NS | malignant_melanoma |
c.174A>G; p.Q58Q; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1088G>C; p.G363A; |
lung | carcinoma; adenocarcinoma |
c.1400C>T; p.S467F; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.607G>T; p.V203F; |
liver | carcinoma |
c.1034C>A; p.A345D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.496G>A; p.A166T; |
lung | carcinoma; adenocarcinoma |
c.973C>A; p.R325R; |
lung | carcinoma; adenocarcinoma |
c.960G>T; p.P320P; |
lung | carcinoma; adenocarcinoma |
c.1010G>T; p.R337M; |
lung | carcinoma; adenocarcinoma |
c.558A>C; p.R186S; |
lung | carcinoma; adenocarcinoma |
c.795C>A; p.N265K; |
liver | carcinoma; hepatocellular_carcinoma |
c.217_234del18; p.A84_A89delAAAAAA; |
salivary_gland | carcinoma; adenoid_cystic_carcinoma |
c.480C>A; p.N160K; |
prostate | carcinoma |
c.1307C>A; p.P436H; |
lung | carcinoma; small_cell_carcinoma |
c.1380delG; p.G462fs*22; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.550G>A; p.D184N; |
large_intestine; colon | adenoma |
c.1231G>A; p.G411S; 6:45622685-45622685 |
ovary | carcinoma; serous_carcinoma |
c.820C>T; p.P274S; |
lung | carcinoma; adenocarcinoma |
c.969C>A; p.S323S; 6:45588070-45588070 |
ovary | carcinoma; serous_carcinoma |
c.1540G>A; p.D514N; |
lung | carcinoma; squamous_cell_carcinoma |
c.957C>A; p.T319T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1325C>G; p.T442S; |
lung | carcinoma; squamous_cell_carcinoma |
c.984G>A; p.G328G; |
lung | carcinoma; squamous_cell_carcinoma |
c.1010G>T; p.R337M; |
lung | carcinoma; adenocarcinoma |
c.925C>G; p.Q309E; |
lung | carcinoma; adenocarcinoma |
c.660A>C; p.T220T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1096G>T; p.E366*; |
lung | carcinoma; squamous_cell_carcinoma |
c.918C>A; p.Y306*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.607G>A; p.V203I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1068C>T; p.L356L; |
breast | carcinoma |
c.1345A>G; p.T449A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.940T>C; p.S314P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1532G>A; p.G511D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1378C>T; p.P460S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.84delC; p.S31fs*9; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1380G>A; p.P460P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1565G>T; p.*522L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.782T>C; p.V261A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1118C>G; p.P373R; |
breast | carcinoma |
c.84delC; p.S31fs*9; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.477delT; p.N160fs*16; |
endometrium | carcinoma; endometrioid_carcinoma |
c.489T>G; p.N163K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.464C>T; p.T155I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1333C>A; p.L445I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1442_1443insG; p.L482fs*8; |
endometrium | carcinoma; endometrioid_carcinoma |
c.574G>T; p.G192*; |
breast | carcinoma |
c.84delC; p.S31fs*9; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1203C>T; p.T401T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.473C>T; p.A158V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.568C>T; p.R190W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1021G>T; p.D341Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.801G>A; p.R267R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1430C>T; p.S477L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1508C>A; p.S503Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1231G>A; p.G411S; 6:45622685-45622685 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.506G>A; p.R169Q; |
breast | carcinoma |
c.84delC; p.S31fs*9; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.192G>A; p.Q64Q; |
prostate | carcinoma; adenocarcinoma |
c.211C>G; p.Q71E; |
prostate | carcinoma; adenocarcinoma |
c.859+1G>A; p.?; |
skin | malignant_melanoma |
c.187C>T; p.Q63*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.965C>T; p.S322F; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1485C>T; p.D495D; |
stomach | adenocarcinoma |