| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 23136 |
Name | EPB41L3 |
Synonymous | 4.1B|DAL-1|DAL1;erythrocyte membrane protein band 4.1-like 3;EPB41L3;erythrocyte membrane protein band 4.1-like 3 |
Definition | band 4.1-like protein 3|differentially expressed in adenocarcinoma of the lung protein 1 |
Position | 18p11.32 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for EPB41L3 | ||
PCGP somatic mutation [Top] | ||
There is no record for EPB41L3 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1903T>A; p.C635S; |
liver | carcinoma; hepatocellular_carcinoma |
c.3019C>G; p.Q1007E; |
lung | carcinoma; squamous_cell_carcinoma |
c.383A>G; p.K128R; |
lung | carcinoma; small_cell_carcinoma |
c.1684G>C; p.G562R; |
lung | carcinoma; small_cell_carcinoma |
c.3004G>A; p.V1002M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2329G>A; p.E777K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1637G>A; p.R546K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.832A>G; p.T278A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.605+1G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.191A>C; p.D64A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1294C>T; p.R432C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK-T_cell_lymphoma |
c.50C>T; p.A17V; |
pancreas | carcinoma; acinar_carcinoma |
c.3050C>T; p.T1017I; |
pancreas | carcinoma; acinar_carcinoma |
c.1492C>T; p.R498W; |
pancreas | carcinoma; acinar_carcinoma |
c.2271G>C; p.K757N; |
liver | carcinoma |
c.2419A>T; p.K807*; |
eye; uveal_tract | malignant_melanoma; spindle |
c.2375delT; p.L792fs*11; |
eye; uveal_tract | malignant_melanoma; spindle |
c.3213A>C; p.K1071N; |
oesophagus | carcinoma; adenocarcinoma |
c.634G>T; p.D212Y; |
oesophagus | carcinoma; adenocarcinoma |
c.158C>T; p.A53V; |
oesophagus | carcinoma; adenocarcinoma |
c.1274G>A; p.R425H; |
oesophagus | carcinoma; adenocarcinoma |
c.2461A>C; p.S821R; |
oesophagus | carcinoma; adenocarcinoma |
c.2950A>C; p.T984P; |
oesophagus | carcinoma; adenocarcinoma |
c.583C>A; p.Q195K; |
oesophagus | carcinoma; adenocarcinoma |
c.3059C>T; p.T1020M; |
oesophagus | carcinoma; adenocarcinoma |
c.489T>G; p.N163K; |
oesophagus | carcinoma; adenocarcinoma |
c.1498G>T; p.E500*; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.433T>G; p.L145V; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1066-7delt; p.?; |
oesophagus | carcinoma; adenocarcinoma |
c.2012C>A; p.A671E; |
oesophagus | carcinoma; adenocarcinoma |
c.466C>T; p.R156*; |
lung | carcinoma; small_cell_carcinoma |
c.1339+10G>A; p.?; |
liver | carcinoma; hepatocellular_carcinoma |
c.982C>T; p.R328*; |
liver | carcinoma; hepatocellular_carcinoma |
c.564T>G; p.F188L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1140T>C; p.C380C; |
liver | carcinoma; hepatocellular_carcinoma |
c.3156G>A; p.A1052A; |
liver | carcinoma |
c.1475C>T; p.T492M; |
large_intestine; colon | carcinoma |
c.2041G>T; p.D681Y; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.712G>A; p.G238R; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.3048C>A; p.T1016T; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell |
c.2994G>T; p.L998L; |
skin; leg | malignant_melanoma; superficial_spreading |
c.696T>A; p.T232T; |
lung | carcinoma; adenocarcinoma |
c.2266G>A; p.E756K; |
lung | carcinoma; adenocarcinoma |
c.2619G>T; p.S873S; |
lung | carcinoma; adenocarcinoma |
c.2310G>A; p.Q770Q; |
lung | carcinoma; adenocarcinoma |
c.1137A>G; p.V379V; |
lung | carcinoma; adenocarcinoma |
c.1684G>A; p.G562R; |
lung | carcinoma; adenocarcinoma |
c.523delG; p.V175fs*12; |
lung | carcinoma; adenocarcinoma |
c.531T>C; p.S177S; |
lung | carcinoma; adenocarcinoma |
c.816G>C; p.K272N; |
lung | carcinoma; adenocarcinoma |
c.2724G>A; p.E908E; |
lung | carcinoma; adenocarcinoma |
c.2026G>A; p.A676T; |
large_intestine; colon | adenoma |
c.1106_1121del16; p.N369fs*27; |
skin; extremity | malignant_melanoma |
c.2039A>G; p.N680S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.1881C>A; p.I627I; |
autonomic_ganglia | neuroblastoma |
c.263C>G; p.S88C; |
prostate | carcinoma |
c.2223C>A; p.T741T; |
pancreas | carcinoma; ductal_carcinoma |
c.422A>T; p.E141V; |
prostate | carcinoma |
c.2693C>T; p.T898M; |
liver | carcinoma |
c.1642G>A; p.E548K; |
liver | carcinoma |
c.646G>A; p.G216R; |
large_intestine; colon | adenoma |
c.1956C>T; p.Y652Y; |
prostate | adenoma |
c.1155A>T; p.T385T; |
prostate | adenoma |
c.2977G>A; p.D993N; |
prostate | adenoma |
c.564T>G; p.F188L; |
endometrium | carcinoma; serous_carcinoma |
c.971G>A; p.R324H; |
endometrium | carcinoma; serous_carcinoma |
c.385C>T; p.R129C; 18:5435240-5435240 |
ovary | carcinoma; serous_carcinoma |
c.2119G>C; p.E707Q; |
lung | carcinoma; adenocarcinoma |
c.70G>T; p.G24W; |
lung | carcinoma; adenocarcinoma |
c.2632G>T; p.G878W; |
lung | carcinoma; adenocarcinoma |
c.89G>T; p.G30V; |
lung | carcinoma; adenocarcinoma |
c.707A>T; p.E236V; 18:5424019-5424019 |
ovary | carcinoma; serous_carcinoma |
c.1484C>T; p.S495L; |
lung | carcinoma; squamous_cell_carcinoma |
c.939A>T; p.L313F; |
lung | carcinoma; squamous_cell_carcinoma |
c.940G>A; p.G314R; |
lung | carcinoma; squamous_cell_carcinoma |
c.2150A>T; p.K717M; |
lung | carcinoma; squamous_cell_carcinoma |
c.1686G>T; p.G562G; |
lung | carcinoma; squamous_cell_carcinoma |
c.1687A>T; p.R563W; |
lung | carcinoma; squamous_cell_carcinoma |
c.530-2A>T; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.1341G>A; p.E447E; |
lung | carcinoma; squamous_cell_carcinoma |
c.2755A>G; p.T919A; 18:5387143-5387143 |
ovary | carcinoma; serous_carcinoma |
c.1847T>A; p.L616H; 18:5406037-5406037 |
ovary | carcinoma; serous_carcinoma |
c.2255C>T; p.T752M; 18:5396870-5396870 |
ovary | carcinoma; serous_carcinoma |
c.1957G>A; p.A653T; |
ovary | carcinoma; serous_carcinoma |
c.706G>T; p.E236*; |
lung | carcinoma; squamous_cell_carcinoma |
c.3010A>T; p.M1004L; |
lung | carcinoma; squamous_cell_carcinoma |
c.3142G>A; p.D1048N; |
lung | carcinoma; squamous_cell_carcinoma |
c.571C>G; p.P191A; |
lung | carcinoma; squamous_cell_carcinoma |
c.144C>T; p.F48F; |
ovary | carcinoma; serous_carcinoma |
c.1003C>A; p.P335T; |
lung | carcinoma; adenocarcinoma |
c.1507-2A>T; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.724C>T; p.P242S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.488A>G; p.N163S; |
lung | carcinoma; adenocarcinoma |
c.3127G>T; p.G1043W; |
lung | carcinoma; adenocarcinoma |
c.2700G>T; p.G900G; |
lung | carcinoma; adenocarcinoma |
c.702G>A; p.Q234Q; |
lung | carcinoma; adenocarcinoma |
c.1975C>T; p.P659S; |
lung | carcinoma; adenocarcinoma |
c.1012C>G; p.L338V; |
lung | carcinoma; squamous_cell_carcinoma |
c.1162A>T; p.R388*; |
lung | carcinoma; squamous_cell_carcinoma |
c.2389G>A; p.E797K; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2365_2366GG>TT; p.G789L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2441G>C; p.G814A; |
lung | carcinoma; squamous_cell_carcinoma |
c.2989G>A; p.D997N; |
lung | carcinoma; squamous_cell_carcinoma |
c.1233G>T; p.R411S; |
lung | carcinoma; squamous_cell_carcinoma |
c.976C>A; p.R326R; |
lung | carcinoma; squamous_cell_carcinoma |
c.2620G>A; p.A874T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1954T>C; p.Y652H; |
ovary | carcinoma; serous_carcinoma |
c.1727G>T; p.R576I; |
lung | carcinoma; adenocarcinoma |
c.2645C>A; p.A882E; |
lung | carcinoma; squamous_cell_carcinoma |
c.3162T>G; p.A1054A; |
lung | carcinoma; squamous_cell_carcinoma |
c.982C>T; p.R328*; |
lung | carcinoma; squamous_cell_carcinoma |
c.3202T>A; p.S1068T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2974-2A>C; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.1453C>T; p.R485W; |
lung | carcinoma; adenocarcinoma |
c.2686G>T; p.A896S; |
lung | carcinoma; adenocarcinoma |
c.69G>T; p.A23A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3165G>C; p.Q1055H; |
lung | carcinoma; adenocarcinoma |
c.1345G>T; p.G449C; |
lung | carcinoma; adenocarcinoma |
c.2598G>C; p.A866A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.746A>G; p.Y249C; |
lung; left_lower_lobe | carcinoma; adenocarcinoma |
c.2140G>A; p.A714T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2372_2373insA; p.L792fs*6; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.212C>T; p.A71V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1878G>A; p.P626P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.690C>A; p.S230S; |
breast | carcinoma |
c.815A>G; p.K272R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3061C>T; p.H1021Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2355G>A; p.K785K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.833C>T; p.T278M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2966C>T; p.S989L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2256G>A; p.T752T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.433T>G; p.L145V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.874A>G; p.K292E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1294C>T; p.R432C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.897T>A; p.D299E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.65C>T; p.A22V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2328C>T; p.I776I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2302G>T; p.A768S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2550G>T; p.K850N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.628C>T; p.R210*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2098G>A; p.D700N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1715C>A; p.A572D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1640C>A; p.A547D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3204A>G; p.S1068S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2694G>A; p.T898T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1956_1957insT; p.A653fs*29; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1863G>A; p.L621L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.982C>T; p.R328*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.288C>A; p.L96L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3007C>A; p.L1003M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2657T>G; p.F886C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2103G>A; p.G701G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2258A>G; p.N753S; |
breast | carcinoma |
c.2746C>G; p.Q916E; |
breast | carcinoma |
c.452T>C; p.F151S; |
breast | carcinoma |
c.1203C>A; p.T401T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.983G>A; p.R328Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3073-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.674T>C; p.L225P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3039C>T; p.T1013T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2250C>A; p.A750A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2012C>T; p.A671V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.970C>T; p.R324C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.762C>A; p.R254R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2427A>T; p.T809T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1145A>G; p.E382G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.560A>C; p.K187T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2293C>T; p.R765*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3213A>T; p.K1071N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2756C>T; p.T919I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2855A>T; p.K952M; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2152G>A; p.A718T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2709G>T; p.E903D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2759C>T; p.A920V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2875G>T; p.G959C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.977G>A; p.R326Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.742G>A; p.D248N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3004G>A; p.V1002M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3125C>T; p.T1042M; |
breast | carcinoma |
c.805G>A; p.E269K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2230G>T; p.E744*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1058C>T; p.P353L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2084C>T; p.T695M; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2209G>A; p.E737K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2113G>A; p.A705T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2757A>G; p.T919T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1137_1138delAT; p.V381fs*1; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1847T>C; p.L616P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2278T>A; p.S760T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1325G>A; p.R442H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3059C>T; p.T1020M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.978G>A; p.R326R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2858C>T; p.T953M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1410G>A; p.P470P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1274G>A; p.R425H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1813T>A; p.Y605N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3112C>T; p.R1038*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2560G>A; p.E854K; |
urinary_tract; bladder | carcinoma |
c.3112C>T; p.R1038*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2458C>G; p.Q820E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.443A>C; p.K148T; |
prostate | carcinoma; adenocarcinoma |
c.2510C>T; p.T837M; |
prostate | carcinoma; adenocarcinoma |
c.1349C>T; p.T450I; |
prostate | carcinoma; adenocarcinoma |
c.3086G>A; p.G1029D; |
prostate | carcinoma; adenocarcinoma |
c.2416C>T; p.R806*; |
urinary_tract; bladder | carcinoma |
c.1484C>T; p.S495L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.387C>T; p.R129R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.560A>C; p.K187T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2757A>G; p.T919T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.385C>T; p.R129C; 18:5435240-5435240 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3203C>T; p.S1068L; |
urinary_tract; bladder | carcinoma |
c.69G>T; p.A23A; |
urinary_tract; bladder | carcinoma |
c.1618C>A; p.P540T; |
prostate | carcinoma; adenocarcinoma |
c.737G>A; p.G246E; |
skin | malignant_melanoma |
c.482A>T; p.Q161L; |
skin | malignant_melanoma |
c.1631C>T; p.P544L; |
skin | malignant_melanoma |
c.2111_2112CT>TC; p.T704I; |
skin | malignant_melanoma |
c.2885C>T; p.S962L; |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.100C>A; p.P34T; |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.1618C>A; p.P540T; |
stomach | adenocarcinoma |
c.730G>T; p.E244*; |
stomach | adenocarcinoma |
c.1622G>C; p.G541A; |
stomach | adenocarcinoma |