| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 57531 |
Name | HACE1 |
Synonymous | -;HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1;HACE1;HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 |
Definition | E3 ubiquitin-protein ligase HACE1|HECT domain and ankyrin repeat-containing E3 ubiquitin-protein ligase 1 |
Position | 6q16.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for HACE1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
HACE1_A449G; chr6; 105232923 |
SUB; MISSENSE; G; G/C; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1401G>T; p.M467I; |
liver | carcinoma; hepatocellular_carcinoma |
c.1870A>C; p.T624P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.995G>A; p.R332Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1419A>C; p.S473S; |
lung | carcinoma; undifferentiated_carcinoma |
c.1836T>G; p.D612E; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.2344-4C>G; p.?; |
liver | carcinoma |
c.2224C>T; p.Q742*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2627+2delt; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2443-5_2443-3delgtt; p.?; |
pancreas | carcinoma; adenocarcinoma |
c.823C>A; p.Q275K; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.214G>A; p.A72T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1951G>A; p.A651T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1016G>T; p.S339I; |
oesophagus | carcinoma; adenocarcinoma |
c.1531T>G; p.L511V; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.2344-4C>G; p.?; |
liver | carcinoma |
c.2581G>A; p.A861T; |
liver | carcinoma |
c.2336A>T; p.Y779F; |
liver | carcinoma |
c.2221G>T; p.V741F; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1054C>T; p.P352S; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1A>G; p.M1V; 6:105414210-105414210 |
lung | carcinoma |
c.790delC; p.Q264fs*26; |
lung | carcinoma; adenocarcinoma |
c.385A>C; p.N129H; |
lung | carcinoma; adenocarcinoma |
c.1641G>T; p.R547S; |
lung | carcinoma; adenocarcinoma |
c.2035G>A; p.D679N; |
lung | carcinoma; adenocarcinoma |
c.152C>G; p.S51*; |
lung | carcinoma; adenocarcinoma |
c.2397T>A; p.N799K; |
lung | carcinoma; adenocarcinoma |
c.2673C>G; p.L891L; |
lung | carcinoma; adenocarcinoma |
c.1711T>A; p.S571T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1075C>T; p.P359S; |
pancreas | carcinoma; ductal_carcinoma |
c.518A>T; p.Q173L; |
liver | carcinoma |
c.1868C>G; p.T623R; |
liver | carcinoma |
c.1221A>T; p.P407P; |
lung | carcinoma; small_cell_carcinoma |
c.426delG; p.R143fs*42; |
prostate | adenoma |
c.2292T>C; p.F764F; |
prostate | adenoma |
c.792G>A; p.Q264Q; |
autonomic_ganglia | neuroblastoma |
c.340A>G; p.M114V; 6:105397853-105397853 |
ovary | carcinoma; serous_carcinoma |
c.754C>A; p.H252N; 6:105351285-105351285 |
ovary | carcinoma; serous_carcinoma |
c.2221G>C; p.V741L; 6:105305031-105305031 |
ovary | carcinoma; serous_carcinoma |
c.1865G>T; p.G622V; |
lung | carcinoma; squamous_cell_carcinoma |
c.1128A>T; p.T376T; |
lung | carcinoma; squamous_cell_carcinoma |
c.485C>T; p.A162V; 6:105387659-105387659 |
ovary | carcinoma; serous_carcinoma |
c.2618C>T; p.S873L; 6:105284880-105284880 |
ovary | carcinoma; serous_carcinoma |
c.1963A>T; p.R655W; |
lung | carcinoma; squamous_cell_carcinoma |
c.430A>G; p.T144A; |
lung | carcinoma; squamous_cell_carcinoma |
c.821G>T; p.R274L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1691G>C; p.R564T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2717A>G; p.Y906C; |
lung | carcinoma; squamous_cell_carcinoma |
c.2478G>A; p.E826E; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1684A>C; p.I562L; |
lung | carcinoma; squamous_cell_carcinoma |
c.576G>T; p.R192S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1238C>T; p.P413L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.107C>T; p.P36L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.188G>A; p.R63H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2344-1G>T; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2580C>T; p.I860I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2617T>C; p.S873P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2058A>G; p.E686E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.787A>G; p.T263A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1478G>T; p.R493I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1569T>G; p.P523P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1924C>T; p.R642W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.759G>A; p.P253P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1057A>G; p.R353G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1104T>C; p.D368D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.333G>T; p.K111N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.610G>A; p.A204T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.751T>C; p.Y251H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2069A>T; p.N690I; |
breast | carcinoma |
c.2667A>G; p.E889E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.262G>T; p.G88*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.486C>A; p.A162A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2213C>T; p.A738V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2213C>T; p.A738V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2222T>C; p.V741A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1351C>T; p.R451W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.177T>C; p.Y59Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1075-4T>C; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2271C>T; p.I757I; |
breast | carcinoma |
c.1327G>T; p.D443Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1424G>A; p.R475H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1793G>A; p.R598H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.804C>G; p.L268L; |
breast | carcinoma |
c.2282delT; p.L761fs*33; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1129G>T; p.E377*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1678+2T>C; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1479-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1673A>G; p.H558R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2222T>C; p.V741A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1777-1G>T; p.?; |
breast | carcinoma |
c.755A>G; p.H252R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.236A>T; p.E79V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2271C>G; p.I757M; |
urinary_tract; bladder | carcinoma |
c.1589G>A; p.W530*; |
urinary_tract; bladder | carcinoma |
c.230C>T; p.S77L; |
skin | malignant_melanoma |
c.523G>A; p.G175S; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.2443-5_2443-3delgtt; p.?; |
stomach | adenocarcinoma |