| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 862 |
Name | RUNX1T1 |
Synonymous | AML1T1|CBFA2T1|CDR|ETO|MTG8|ZMYND2;runt-related transcription factor 1; translocated to, 1 (cyclin D-related);RUNX1T1;runt-related transcription factor 1; translocated to, 1 (cyclin D-related) |
Definition | acute myelogenous leukemia 1 translocation 1, cyclin-D related|core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related|eight twenty one protein|myeloid translocation gene on 8q22|protein CBFA2T1|zinc finger MYND domain-cont |
Position | 8q22 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for RUNX1T1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
RUNX1T1_T20M; chr8; 93029540 |
SUB; MISSENSE; G; G/A; SOMATIC | HYPO; VALID; WGS |
RUNX1T1_E2_UTR_5; chr8; 93074902 |
SUB; UTR_5; C; C/T; SOMATIC | RHB; VALID; WGS |
RUNX1T1_E2_UTR_5; chr8; 93074902 |
SUB; UTR_5; C; C/T; SOMATIC | RHB; VALID; WGS |
RUNX1T1_E1_UTR_5; chr8; 93074902 |
SUB; UTR_5; C; C/T; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
RUNX1T1_E1_UTR_5; chr8; 93074902 |
SUB; UTR_5; C; C/T; SOMATIC | RHB; PUTATIVE-HQ; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1205G>A; p.G402E; |
lung | carcinoma; squamous_cell_carcinoma |
c.689C>A; p.P230Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.607G>A; p.G203R; |
lung | carcinoma; squamous_cell_carcinoma |
c.1390G>T; p.A464S; |
lung | carcinoma; squamous_cell_carcinoma |
c.657G>T; p.E219D; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.796G>T; p.D266Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.1429-1G>C; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.98C>A; p.S33*; |
lung | carcinoma; small_cell_carcinoma |
c.1469G>A; p.S490N; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.932G>A; p.R311K; |
NS | malignant_melanoma |
c.357G>A; p.V119V; |
NS | malignant_melanoma |
c.357G>A; p.V119V; |
NS | malignant_melanoma |
c.966+1G>A; p.?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.526C>G; p.Q176E; |
liver | carcinoma; hepatocellular_carcinoma |
c.781C>T; p.Q261*; |
lung | carcinoma; small_cell_carcinoma |
c.1577C>A; p.T526K; |
lung | carcinoma; small_cell_carcinoma |
c.1657T>C; p.S553P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1390G>A; p.A464T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1667C>T; p.P556L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.358-1G>T; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1699C>T; p.R567C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.626A>G; p.D209G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1667C>A; p.P556Q; |
lung | carcinoma; small_cell_carcinoma |
c.156C>T; p.G52G; |
pancreas | carcinoma |
c.1448G>A; p.R483H; |
lung | carcinoma; adenocarcinoma |
c.1384G>A; p.E462K; |
lung | carcinoma; squamous_cell_carcinoma |
c.1551C>A; p.T517T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1448G>A; p.R483H; |
breast | carcinoma; ER-PR-positive_carcinoma |
c.631A>T; p.T211S; |
pancreas | carcinoma; acinar_carcinoma |
c.477C>T; p.L159L; 8:93086672-93086672 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1372C>T; p.R458W; |
large_intestine; colon | adenoma |
c.685C>T; p.R229*; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1239G>A; p.E413E; |
oesophagus | carcinoma; adenocarcinoma |
c.781C>T; p.Q261*; |
lung | carcinoma; small_cell_carcinoma |
c.765T>C; p.P255P; |
liver | carcinoma |
c.190C>T; p.P64S; |
liver | carcinoma; hepatocellular_carcinoma |
c.196T>C; p.S66P; |
liver | carcinoma |
c.498_499insA; p.Q168fs*11; |
large_intestine; colon | carcinoma |
c.1143C>A; p.P381P; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.962A>G; p.D321G; |
liver | carcinoma |
c.1085C>T; p.A362V; |
skin; leg | malignant_melanoma; superficial_spreading |
c.1048G>A; p.E350K; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.1448G>T; p.R483L; |
lung | carcinoma; adenocarcinoma |
c.1471G>T; p.G491C; |
lung | carcinoma; adenocarcinoma |
c.959T>A; p.L320H; |
lung | carcinoma; adenocarcinoma |
c.876T>A; p.P292P; |
lung | carcinoma; adenocarcinoma |
c.1367C>A; p.A456D; |
lung | carcinoma; adenocarcinoma |
c.1434C>A; p.C478*; |
lung | carcinoma; adenocarcinoma |
c.1619G>T; p.G540V; |
lung | carcinoma; adenocarcinoma |
c.97T>C; p.S33P; |
lung | carcinoma; adenocarcinoma |
c.486C>A; p.C162*; |
lung | carcinoma; adenocarcinoma |
c.1315C>A; p.H439N; |
lung | carcinoma; adenocarcinoma |
c.212C>G; p.S71C; |
lung | carcinoma; adenocarcinoma |
c.447+2T>A; p.?; |
lung | carcinoma; adenocarcinoma |
c.1344G>T; p.K448N; |
lung | carcinoma; adenocarcinoma |
c.448-1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.318G>A; p.E106E; |
lung | carcinoma; adenocarcinoma |
c.1156C>A; p.P386T; |
lung | carcinoma; adenocarcinoma |
c.514C>A; p.Q172K; |
lung | carcinoma; adenocarcinoma |
c.601G>A; p.E201K; |
NS | malignant_melanoma |
c.1367C>T; p.A456V; |
skin; extremity | malignant_melanoma |
c.1045C>T; p.R349W; 8:93067651-93067651 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1072C>T; p.R358W; 8:93067624-93067624 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1301C>T; p.A434V; 8:93052189-93052189 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.68C>A; p.P23Q; |
pancreas | carcinoma; ductal_carcinoma |
c.259A>G; p.S87G; |
pancreas | NS |
c.1165C>T; p.L389L; |
liver | carcinoma |
c.1437G>A; p.W479*; |
liver | carcinoma |
c.1655G>A; p.R552K; |
lung | carcinoma; small_cell_carcinoma |
c.1429-3T>C; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.68C>G; p.P23R; |
lung | carcinoma; small_cell_carcinoma |
c.487G>T; p.A163S; |
lung | carcinoma; small_cell_carcinoma |
c.1486C>T; p.R496*; |
ovary | carcinoma; serous_carcinoma |
c.1274C>A; p.T425K; |
lung | carcinoma; adenocarcinoma |
c.1186C>A; p.L396I; |
lung | carcinoma; adenocarcinoma |
c.430G>T; p.V144F; |
lung | carcinoma; adenocarcinoma |
c.1168+2T>A; p.?; |
lung | carcinoma; adenocarcinoma |
c.617G>A; p.R206Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.1069C>T; p.R357W; |
lung | carcinoma; squamous_cell_carcinoma |
c.1433G>T; p.C478F; |
lung | carcinoma; squamous_cell_carcinoma |
c.558C>A; p.T186T; |
lung | carcinoma; squamous_cell_carcinoma |
c.754C>A; p.L252M; |
lung | carcinoma; squamous_cell_carcinoma |
c.470G>T; p.R157L; |
lung | carcinoma; squamous_cell_carcinoma |
c.617G>T; p.R206L; |
lung | carcinoma; squamous_cell_carcinoma |
c.37A>G; p.R13G; |
lung | carcinoma; squamous_cell_carcinoma |
c.354A>T; p.L118L; |
lung | carcinoma; adenocarcinoma |
c.1404C>G; p.I468M; |
lung | carcinoma; squamous_cell_carcinoma |
c.1153G>C; p.D385H; |
lung | carcinoma; adenocarcinoma |
c.1465T>A; p.C489S; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1141C>A; p.P381T; |
lung | carcinoma; adenocarcinoma |
c.154G>A; p.G52S; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.942A>C; p.A314A; |
lung | carcinoma; adenocarcinoma |
c.273G>T; p.R91S; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.844A>T; p.S282C; |
lung | carcinoma; squamous_cell_carcinoma |
c.1086C>A; p.A362A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.838C>T; p.H280Y; |
lung | carcinoma; adenocarcinoma |
c.273G>T; p.R91S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.895C>A; p.R299S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.285C>A; p.T95T; |
ovary | carcinoma; serous_carcinoma |
c.708C>A; p.G236G; |
lung | carcinoma; adenocarcinoma |
c.778C>A; p.P260T; |
lung | carcinoma; adenocarcinoma |
c.1261C>T; p.R421C; |
lung | carcinoma; squamous_cell_carcinoma |
c.1112G>T; p.S371I; |
lung | carcinoma; squamous_cell_carcinoma |
c.1360G>A; p.A454T; |
lung | carcinoma; squamous_cell_carcinoma |
c.713G>T; p.R238L; |
lung | carcinoma; adenocarcinoma |
c.789C>A; p.Y263*; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1016C>A; p.T339N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.437C>G; p.P146R; |
lung | carcinoma; adenocarcinoma |
c.447+2T>C; p.?; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1069C>T; p.R357W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1107C>T; p.G369G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.379G>T; p.E127*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1046G>A; p.R349Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.901G>T; p.E301*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1360G>A; p.A454T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1046G>T; p.R349L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1200G>A; p.A400A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1356G>A; p.T452T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.260G>A; p.S87N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.335G>A; p.R112H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1244C>T; p.A415V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1051G>T; p.E351*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.966+5G>T; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1642G>C; p.A548P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.339C>T; p.T113T; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.693C>A; p.C231*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.389C>A; p.S130Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1069C>T; p.R357W; |
large_intestine; rectum | NS |
c.201_203delTTC; p.S71delS; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1144G>A; p.V382I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.486C>T; p.C162C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.436C>A; p.P146T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1301C>T; p.A434V; 8:93052189-93052189 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1006C>T; p.R336*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1351C>T; p.R451C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.100T>C; p.F34L; |
breast | carcinoma |
c.1425C>T; p.S475S; |
breast | carcinoma |
c.752G>T; p.G251V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.953A>C; p.K318T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.920G>T; p.R307I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1143C>T; p.P381P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.487G>A; p.A163T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1642G>C; p.A548P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.487G>A; p.A163T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1330A>G; p.T444A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1046G>T; p.R349L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.358-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1291G>A; p.V431M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.793T>G; p.L265V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1602G>A; p.T534T; |
breast | carcinoma |
c.916C>A; p.H306N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1389C>T; p.D463D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.592G>A; p.D198N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1524G>T; p.E508D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1653G>A; p.P551P; |
urinary_tract; bladder | carcinoma |
c.604A>G; p.N202D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.637G>T; p.E213*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.572A>G; p.D191G; |
prostate | carcinoma; adenocarcinoma |
c.1302G>T; p.A434A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1611C>T; p.S537S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1307G>A; p.R436Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.685C>T; p.R229*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1045C>T; p.R349W; 8:93067651-93067651 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1102G>C; p.G368R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.758C>A; p.P253H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1454C>T; p.A485V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.52A>T; p.T18S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1261C>T; p.R421C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1046G>A; p.R349Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.601G>A; p.E201K; |
urinary_tract; bladder | carcinoma |
c.207C>A; p.S69S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.713G>T; p.R238L; |
urinary_tract; bladder | carcinoma |
c.1048G>A; p.E350K; |
skin | malignant_melanoma |
c.1387G>A; p.D463N; |
skin | malignant_melanoma |
c.862G>A; p.D288N; |
skin | malignant_melanoma |
c.938G>A; p.W313*; |
skin | malignant_melanoma |
c.601G>A; p.E201K; |
skin | malignant_melanoma |
c.592G>A; p.D198N; |
skin | malignant_melanoma |
c.869A>C; p.N290T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |