| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1600 |
Name | DAB1 |
Synonymous | -;disabled homolog 1 (Drosophila);DAB1;disabled homolog 1 (Drosophila) |
Definition | disabled homolog 1 |
Position | 1p32-p31 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for DAB1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
DAB1_R211H; chr1; 57535064 |
SUB; MISSENSE; C; C/T; SOMATIC | MB; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1534G>T; p.G512C; |
lung | carcinoma; small_cell_carcinoma |
c.1093G>A; p.A365T; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1350C>T; p.V450V; |
skin; neck | malignant_melanoma |
c.1484C>T; p.S495L; |
skin; upper_arm | malignant_melanoma |
c.644C>T; p.T215M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1255C>A; p.Q419K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.142G>A; p.G48R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.39C>T; p.T13T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.1615G>A; p.E539K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.186A>G; p.Q62Q; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.422T>C; p.I141T; |
oesophagus | carcinoma; adenocarcinoma |
c.160G>T; p.A54S; |
oesophagus | carcinoma; adenocarcinoma |
c.481A>G; p.I161V; |
liver | carcinoma; hepatocellular_carcinoma |
c.519G>A; p.K173K; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.962T>A; p.M321K; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.960G>C; p.Q320H; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.31G>T; p.V11L; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.1478C>T; p.S493F; |
lung | carcinoma; large_cell_carcinoma |
c.928T>C; p.F310L; |
lung | carcinoma; adenocarcinoma |
c.1168G>A; p.V390I; |
lung | carcinoma; adenocarcinoma |
c.768T>G; p.P256P; |
lung | carcinoma; adenocarcinoma |
c.895+1G>A; p.?; |
lung | carcinoma; adenocarcinoma |
c.1120C>A; p.P374T; |
lung | carcinoma; adenocarcinoma |
c.993G>C; p.Q331H; |
lung | carcinoma; adenocarcinoma |
c.923C>T; p.P308L; |
lung | carcinoma; adenocarcinoma |
c.987C>T; p.V329V; |
lung | carcinoma; adenocarcinoma |
c.141C>A; p.I47I; |
lung | carcinoma; adenocarcinoma |
c.586C>T; p.P196S; |
skin; trunk | malignant_melanoma |
c.1133C>T; p.A378V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.1661G>T; p.G554V; |
lung | carcinoma; bronchioloalveolar_adenocarcinoma |
c.1179G>T; p.T393T; |
lung | carcinoma; small_cell_carcinoma |
c.632G>A; p.R211H; |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma; SHH_subtype |
c.1394C>T; p.S465F; |
skin; upper_leg | malignant_melanoma |
c.835C>G; p.L279V; |
lung | carcinoma; adenocarcinoma |
c.944C>A; p.P315H; |
lung | carcinoma; adenocarcinoma |
c.912C>T; p.G304G; |
ovary | carcinoma; serous_carcinoma |
c.1556G>T; p.S519I; 1:57249422-57249422 |
ovary | carcinoma; serous_carcinoma |
c.227G>A; p.R76H; |
lung | carcinoma; squamous_cell_carcinoma |
c.1301C>A; p.P434H; |
ovary | carcinoma; serous_carcinoma |
c.1519G>T; p.D507Y; |
ovary | carcinoma; serous_carcinoma |
c.267C>T; p.I89I; |
lung | carcinoma; squamous_cell_carcinoma |
c.1214A>T; p.K405M; |
lung | carcinoma; adenocarcinoma |
c.818C>A; p.P273Q; |
lung | carcinoma; adenocarcinoma |
c.1000C>T; p.P334S; |
lung | carcinoma; squamous_cell_carcinoma |
c.57C>A; p.S19S; |
lung | carcinoma; adenocarcinoma |
c.1017C>A; p.I339I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1512C>A; p.T504T; |
lung | carcinoma; adenocarcinoma |
c.487G>A; p.E163K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1284C>T; p.S428S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1474C>G; p.P492A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.182G>T; p.C61F; |
lung | carcinoma; squamous_cell_carcinoma |
c.1063C>T; p.P355S; |
lung | carcinoma; squamous_cell_carcinoma |
c.71A>T; p.Q24L; |
lung | carcinoma; adenocarcinoma |
c.131C>A; p.A44D; |
lung | carcinoma; adenocarcinoma |
c.1587G>A; p.Q529Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.1603G>A; p.D535N; |
lung | carcinoma; squamous_cell_carcinoma |
c.1215G>C; p.K405N; |
lung | carcinoma; squamous_cell_carcinoma |
c.208-1G>T; p.?; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.529G>T; p.D177Y; |
lung | carcinoma; adenocarcinoma |
c.328G>T; p.V110F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.438+2T>A; p.?; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1102C>A; p.P368T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1078C>A; p.Q360K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1014C>T; p.P338P; |
lung | carcinoma; adenocarcinoma |
c.1255C>A; p.Q419K; |
lung | carcinoma; adenocarcinoma |
c.694T>C; p.Y232H; |
lung | carcinoma; adenocarcinoma |
c.1286G>T; p.R429L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.439-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1286G>A; p.R429H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1354G>T; p.V452L; |
breast | carcinoma |
c.433C>A; p.Q145K; |
breast | carcinoma |
c.1557C>T; p.S519S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.43G>A; p.A15T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1533G>T; p.E511D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1271C>T; p.P424L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.159C>T; p.S53S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.210C>T; p.G70G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.222C>T; p.G74G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.277G>T; p.G93*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1587G>T; p.Q529H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.649G>T; p.E217*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.544C>G; p.Q182E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.210C>T; p.G70G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1540G>C; p.E514Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1419T>G; p.T473T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.558+2_558+29del28; p.?; |
breast | carcinoma |
c.758C>A; p.S253Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1338C>A; p.Y446*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.37A>G; p.T13A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1533G>T; p.E511D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.912C>T; p.G304G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.252A>C; p.K84N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.228T>G; p.R76R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1074C>T; p.A358A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.255C>A; p.I85I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.393G>A; p.G131G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.996G>T; p.V332V; |
urinary_tract; bladder | carcinoma |
c.1144G>A; p.G382S; |
urinary_tract; bladder | carcinoma |
c.1257G>T; p.Q419H; |
urinary_tract; bladder | carcinoma |
c.1313G>C; p.C438S; |
urinary_tract; bladder | carcinoma |
c.1381G>T; p.D461Y; |
urinary_tract; bladder | carcinoma |
c.1557C>A; p.S519R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1286G>A; p.R429H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.211G>A; p.V71I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.910G>A; p.G304S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.559-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1446T>C; p.P482P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1555A>G; p.S519G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.427delA; p.T143fs*12; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.786_786+1insC; p.T263fs*7; |
breast | carcinoma |
c.407A>G; p.H136R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1555A>G; p.S519G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.786+1G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1002G>A; p.P334P; |
cervix | carcinoma; squamous_cell_carcinoma |
c.829C>A; p.Q277K; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1651C>T; p.P551S; |
skin | malignant_melanoma |
c.1042C>T; p.P348S; |
skin | malignant_melanoma |
c.1053G>T; p.Q351H; |
skin | malignant_melanoma |
c.1249G>A; p.D417N; |
skin | malignant_melanoma |
c.1430C>T; p.P477L; |
skin | malignant_melanoma |
c.449T>G; p.V150G; |
skin | malignant_melanoma |
c.110G>A; p.G37D; |
skin | malignant_melanoma |
c.1369G>A; p.D457N; |
skin | malignant_melanoma |
c.500G>A; p.R167K; |
skin; upper_leg | malignant_melanoma |
c.1351G>A; p.G451R; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.77G>A; p.R26H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.646G>A; p.E216K; |
stomach | adenocarcinoma |