| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2051 |
Name | EPHB6 |
Synonymous | HEP;EPH receptor B6;EPHB6;EPH receptor B6 |
Definition | ephrin type-B receptor 6|tyrosine-protein kinase-defective receptor EPH-6 |
Position | 7q33-q35 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for EPHB6 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
EPHB6_R826C; chr7; 142567588 |
SUB; MISSENSE; C; C/T; SOMATIC | MB; VALID; WGS |
EPHB6_E2_UTR_5; chr7; 142558942 |
SUB; UTR_5; G; G/A; SOMATIC | MB; PUTATIVE-HQ; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2228C>A; p.P743H; |
lung | carcinoma; adenocarcinoma |
c.1209C>T; p.F403F; |
lung | carcinoma; squamous_cell_carcinoma |
c.653C>A; p.A218D; 7:142272333-142272333 |
lung | carcinoma; adenocarcinoma |
c.298G>A; p.A100T; 7:142271978-142271978 |
lung | carcinoma; adenocarcinoma |
c.850C>A; p.L284M; 7:142272530-142272530 |
lung | carcinoma; adenocarcinoma |
c.462G>T; p.K154N; 7:142272142-142272142 |
lung | carcinoma; adenocarcinoma |
c.1988G>T; p.R663L; 7:142276190-142276190 |
lung | carcinoma; adenocarcinoma |
c.2710C>T; p.R904W; |
skin; ear | malignant_melanoma |
c.2284-5C>T; p.?; |
skin; upper_back | malignant_melanoma |
c.2155C>T; p.R719W; |
skin; upper_leg | malignant_melanoma |
c.160delG; p.W56fs*4; |
NS | malignant_melanoma |
c.751delG; p.A253fs*21; |
NS | malignant_melanoma |
c.1255G>A; p.G419S; |
skin | malignant_melanoma |
c.2108C>G; p.A703G; |
skin; scalp | malignant_melanoma |
c.500C>T; p.S167F; |
skin; neck | malignant_melanoma |
c.2440C>T; p.L814F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1471G>A; p.V491I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.397C>T; p.R133C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.258G>T; p.Q86H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.316C>T; p.R106*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2081G>A; p.R694Q; |
skin; abdomen | malignant_melanoma |
c.437C>T; p.S146F; |
skin; abdomen | malignant_melanoma |
c.437C>T; p.S146F; |
skin; abdomen | malignant_melanoma |
c.1803G>T; p.L601L; |
lung | carcinoma; adenocarcinoma |
c.751delG; p.A253fs*21; |
pancreas | carcinoma; acinar_carcinoma |
c.840_841insC; p.R283fs*41; |
pancreas | carcinoma; acinar_carcinoma |
c.101-3C>T; p.?; |
liver | carcinoma |
c.1078G>A; p.D360N; 7:142273483-142273483 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2874A>C; p.S958S; |
oesophagus | carcinoma; adenocarcinoma |
c.2713C>T; p.R905W; |
oesophagus | carcinoma; adenocarcinoma |
c.1975C>T; p.R659*; |
oesophagus | carcinoma; adenocarcinoma |
c.2613A>T; p.L871L; |
liver | carcinoma; hepatocellular_carcinoma |
c.2798A>G; p.E933G; |
liver | carcinoma |
c.1839C>T; p.T613T; |
liver | carcinoma |
c.44_45insGG; p.M16fs*45; |
large_intestine; colon | carcinoma |
c.2301C>T; p.F767F; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.1807G>C; p.A603P; 7:142275544-142275544 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2155C>T; p.R719W; |
pancreas | other; adenoma |
c.896G>C; p.C299S; |
lung | carcinoma; adenocarcinoma |
c.1238G>T; p.R413L; |
lung | carcinoma; adenocarcinoma |
c.1570C>T; p.R524C; |
lung | carcinoma; adenocarcinoma |
c.704T>C; p.V235A; |
lung | carcinoma; adenocarcinoma |
c.334C>T; p.R112W; |
lung | carcinoma; adenocarcinoma |
c.1010G>A; p.R337H; |
lung | carcinoma; adenocarcinoma |
c.100+1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.627C>T; p.F209F; |
lung | carcinoma; adenocarcinoma |
c.610C>G; p.L204V; |
lung | carcinoma; adenocarcinoma |
c.107_108TG>CT; p.L36S; |
lung | carcinoma; adenocarcinoma |
c.2642C>A; p.P881H; |
lung | carcinoma; adenocarcinoma |
c.2457+1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.334C>G; p.R112G; |
lung | carcinoma; adenocarcinoma |
c.245C>T; p.P82L; |
lung | carcinoma; adenocarcinoma |
c.2223C>A; p.S741R; |
lung | carcinoma; adenocarcinoma |
c.1871G>A; p.R624H; |
NS | malignant_melanoma |
c.2759G>C; p.R920P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.2156G>A; p.R719Q; 7:142276489-142276489 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2789A>G; p.D930G; 7:142278270-142278270 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2078G>T; p.G693V; |
pancreas | carcinoma; ductal_carcinoma |
c.2227C>T; p.P743S; 7:142276560-142276560 |
ovary | carcinoma; mucinous_carcinoma |
c.2623G>A; p.E875K; 7:142278104-142278104 |
central_nervous_system; brain | glioma |
c.1068G>C; p.R356R; |
pancreas | NS |
c.955C>G; p.R319G; |
liver | carcinoma |
c.1486C>T; p.Q496*; |
lung | carcinoma; small_cell_carcinoma |
c.927A>G; p.R309R; |
lung | carcinoma; small_cell_carcinoma |
c.2476C>T; p.R826C; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.362G>A; p.G121D; 7:142272042-142272042 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2098G>A; p.A700T; 7:142276431-142276431 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2666G>T; p.G889V; |
lung | carcinoma; adenocarcinoma |
c.2894A>T; p.Y965F; |
lung | carcinoma; adenocarcinoma |
c.1853T>G; p.V618G; |
lung | carcinoma; adenocarcinoma |
c.1808C>G; p.A603G; |
lung | carcinoma; adenocarcinoma |
c.2164G>A; p.V722M; |
ovary | carcinoma; serous_carcinoma |
c.108G>T; p.L36F; |
ovary | carcinoma; serous_carcinoma |
c.956G>A; p.R319Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.172G>T; p.E58*; |
lung | carcinoma; squamous_cell_carcinoma |
c.1059C>G; p.G353G; |
lung | carcinoma; adenocarcinoma |
c.3018C>A; p.I1006I; |
lung | carcinoma; adenocarcinoma |
c.556G>C; p.A186P; |
lung | carcinoma; adenocarcinoma |
c.670G>A; p.A224T; |
lung | carcinoma; adenocarcinoma |
c.1010G>A; p.R337H; |
lung | carcinoma; adenocarcinoma |
c.647C>T; p.T216M; |
lung | carcinoma; adenocarcinoma |
c.290G>T; p.R97L; |
lung; left_upper_lobe | carcinoma; adenocarcinoma |
c.2381G>A; p.R794H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1705G>T; p.G569C; |
lung | carcinoma; adenocarcinoma |
c.1682G>T; p.R561L; |
lung | carcinoma; adenocarcinoma |
c.2433G>T; p.V811V; |
lung | carcinoma; adenocarcinoma |
c.1426G>T; p.A476S; |
lung | carcinoma; adenocarcinoma |
c.2759G>A; p.R920H; |
lung | carcinoma; adenocarcinoma |
c.1409G>T; p.S470I; |
lung | carcinoma; adenocarcinoma |
c.98A>T; p.E33V; |
lung | carcinoma; adenocarcinoma |
c.778G>T; p.G260C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.455G>A; p.W152*; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.299C>A; p.A100D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2907C>T; p.F969F; |
lung | carcinoma; squamous_cell_carcinoma |
c.2524A>T; p.S842C; |
lung | carcinoma; squamous_cell_carcinoma |
c.2245G>T; p.E749*; |
lung | carcinoma; adenocarcinoma |
c.1687C>G; p.R563G; |
lung | carcinoma; adenocarcinoma |
c.1067G>T; p.R356L; |
lung | carcinoma; adenocarcinoma |
c.2824C>A; p.P942T; |
lung | carcinoma; squamous_cell_carcinoma |
c.470C>A; p.T157K; |
lung | carcinoma; squamous_cell_carcinoma |
c.882A>T; p.V294V; |
lung | carcinoma; squamous_cell_carcinoma |
c.865G>A; p.E289K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.848G>T; p.R283M; |
lung | carcinoma; adenocarcinoma |
c.16G>T; p.A6S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2959G>A; p.D987N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2409G>T; p.V803V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.855C>G; p.H285Q; |
lung | carcinoma; adenocarcinoma |
c.76G>T; p.V26L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.863G>T; p.G288V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.373C>A; p.R125R; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1588G>C; p.E530Q; |
breast | carcinoma |
c.1183C>A; p.L395M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.604G>T; p.G202W; |
breast | carcinoma |
c.2705G>A; p.R902H; |
breast | carcinoma |
c.2250C>A; p.F750L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.374G>A; p.R125Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1199A>G; p.D400G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1397T>C; p.V466A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.519T>C; p.S173S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.426C>A; p.D142E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.619C>T; p.R207C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2802-1G>T; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1525C>T; p.P509S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.608C>A; p.P203H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2829G>T; p.V943V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2085G>A; p.R695R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2053C>T; p.R685C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3050G>A; p.G1017D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.338C>T; p.A113V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3039G>A; p.L1013L; |
breast | carcinoma |
c.851T>C; p.L284P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2025C>A; p.V675V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1237C>T; p.R413C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.461A>G; p.K154R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2684T>G; p.L895W; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.393C>T; p.Y131Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1851C>A; p.V617V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2474T>G; p.L825R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1096T>G; p.C366G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1868G>A; p.R623Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1978G>T; p.E660*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.334C>T; p.R112W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1234G>T; p.G412C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2291A>G; p.E764G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1743T>A; p.P581P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2155C>T; p.R719W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1161A>G; p.L387L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2874A>T; p.S958S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1039G>A; p.V347I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.325T>C; p.F109L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2384C>T; p.S795L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1995C>T; p.V665V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2155C>A; p.R719R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1471G>A; p.V491I; |
urinary_tract; bladder | carcinoma |
c.1198G>A; p.D400N; |
cervix | carcinoma; squamous_cell_carcinoma |
c.2080C>T; p.R694W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.367A>C; p.T123P; |
prostate | carcinoma; adenocarcinoma |
c.461A>G; p.K154R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2599G>A; p.E867K; |
urinary_tract; bladder | carcinoma |
c.2542G>C; p.G848R; |
urinary_tract; bladder | carcinoma |
c.496T>C; p.S166P; |
urinary_tract; bladder | carcinoma |
c.2312A>G; p.Q771R; |
stomach | carcinoma |
c.709C>T; p.R237*; |
skin | malignant_melanoma |
c.1907G>A; p.S636N; |
skin | malignant_melanoma |
c.1699G>A; p.G567S; |
skin | malignant_melanoma |
c.2754G>A; p.M918I; |
skin | malignant_melanoma |
c.1747+9G>A; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2457+7G>T; p.?; |
stomach | adenocarcinoma |