| Gene ID | 8895 |
| Symbol | CPNE3 |
| Synonymous | CPN3|PRO1071 |
| Full name | copine III |
| Gene description | copine-3 |
| Cytoband | 8q21.3 |
| Gene type | protein-coding |
| Synonymous | MIM:604207; HGNC:HGNC:2316; Ensembl:ENSG00000085719; HPRD:05016; Vega:OTTHUMG00000163725 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.765G>A; p.R255R; 8:86546627-86546627 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.134T>C; p.V45A; 8:86528946-86528946 |
NS | malignant_melanoma | Substitution - Missense |
c.400G>T; p.E134*; 8:86532521-86532521 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1544T>G; p.V515G; 8:86558340-86558340 |
thyroid | other; neoplasm | Substitution - Missense |
c.29C>T; p.A10V; 8:86528574-86528574 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.140G>A; p.R47H; 8:86528952-86528952 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.140G>A; p.R47H; 8:86528952-86528952 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1444G>A; p.A482T; 8:86556291-86556291 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.496C>T; p.H166Y; 8:86537599-86537599 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1118A>T; p.N373I; 8:86551232-86551232 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1321A>G; p.I441V; 8:86556168-86556168 |
breast | carcinoma | Substitution - Missense |
c.183G>T; p.K61N; 8:86528995-86528995 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1093T>G; p.F365V; 8:86551207-86551207 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1467T>A; p.F489L; 8:86556314-86556314 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.313-3C>A; p.?; 8:86531152-86531152 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1596G>A; p.T532T; 8:86558392-86558392 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.464T>G; p.L155R; 8:86537567-86537567 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.885A>G; p.G295G; 8:86548306-86548306 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1068+2T>G; p.?; 8:86551102-86551102 |
prostate | carcinoma; adenocarcinoma | Unknown |
c.156G>A; p.K52K; 8:86528968-86528968 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1068+2T>G; p.?; 8:86551102-86551102 |
prostate | carcinoma; adenocarcinoma | Unknown |
c.864T>C; p.C288C; 8:86547755-86547755 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1414G>A; p.G472R; 8:86556261-86556261 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1151C>G; p.S384C; 8:86554881-86554881 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1089G>T; p.M363I; 8:86551203-86551203 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1605G>A; p.Q535Q; 8:86558401-86558401 |
skin | malignant_melanoma | Substitution - coding silent |
c.973G>A; p.A325T; 8:86548394-86548394 |
thyroid | other; neoplasm | Substitution - Missense |
c.806T>C; p.V269A; 8:86546668-86546668 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1032T>C; p.A344A; 8:86551064-86551064 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.247G>A; p.D83N; 8:86529059-86529059 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.615T>C; p.D205D; 8:86540316-86540316 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1578T>C; p.P526P; 8:86558374-86558374 |
breast | carcinoma | Substitution - coding silent |
c.326_327insG; p.K110fs*24; 8:86531168-86531169 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.245T>C; p.I82T; 8:86529057-86529057 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1561A>G; p.T521A; 8:86558357-86558357 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1085C>T; p.P362L; 8:86551199-86551199 |
skin | malignant_melanoma | Substitution - Missense |
c.460G>C; p.D154H; 8:86537563-86537563 |
liver | carcinoma | Substitution - Missense |
c.1318G>A; p.A440T; 8:86556165-86556165 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.460G>C; p.D154H; 8:86537563-86537563 |
liver | carcinoma | Substitution - Missense |
c.588C>G; p.I196M; 8:86540289-86540289 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.30G>A; p.A10A; 8:86528575-86528575 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.716C>A; p.A239D; 8:86544822-86544822 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1528G>A; p.E510K; 8:86558324-86558324 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.859G>A; p.G287R; 8:86547750-86547750 |
pancreas | carcinoma | Substitution - Missense |
c.448C>G; p.L150V; 8:86532569-86532569 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1071A>G; p.V357V; 8:86551185-86551185 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.756G>T; p.E252D; 8:86546618-86546618 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1238A>T; p.Q413L; 8:86554968-86554968 |
prostate | adenoma | Substitution - Missense |
c.535C>T; p.R179W; 8:86537638-86537638 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.143C>T; p.T48I; 8:86528955-86528955 |
liver | carcinoma | Substitution - Missense |
c.1476C>A; p.F492L; 8:86556323-86556323 |
liver | carcinoma | Substitution - Missense |
c.590C>G; p.S197C; 8:86540291-86540291 |
pancreas | carcinoma | Substitution - Missense |
c.386C>T; p.T129M; 8:86531228-86531228 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.386C>T; p.T129M; 8:86531228-86531228 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.338G>A; p.R113Q; 8:86531180-86531180 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.126G>A; p.W42*; 8:86528671-86528671 |
skin; upper_leg | malignant_melanoma | Substitution - Nonsense |
c.1187A>C; p.N396T; 8:86554917-86554917 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.133-7G>T; p.?; 8:86528938-86528938 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1437C>T; p.G479G; 8:86556284-86556284 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1437C>T; p.G479G; 8:86556284-86556284 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1611G>T; p.Q537H; 8:86558407-86558407 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1537C>T; p.Q513*; 8:86558333-86558333 |
skin; upper_leg | malignant_melanoma | Substitution - Nonsense |
c.771G>T; p.K257N; 8:86546633-86546633 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1258T>C; p.Y420H; 8:86556105-86556105 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1147C>T; p.R383W; 8:86554877-86554877 |
NS | malignant_melanoma | Substitution - Missense |
c.1147C>T; p.R383W; 8:86554877-86554877 |
NS | malignant_melanoma | Substitution - Missense |
c.1159C>T; p.P387S; 8:86554889-86554889 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1159C>T; p.P387S; 8:86554889-86554889 |
skin | malignant_melanoma | Substitution - Missense |
c.1498A>G; p.K500E; 8:86558294-86558294 |
pancreas | carcinoma | Substitution - Missense |
c.820-2A>C; p.?; 8:86547709-86547709 |
breast | carcinoma | Unknown |
c.1395G>C; p.E465D; 8:86556242-86556242 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1014T>C; p.A338A; 8:86551046-86551046 |
breast | carcinoma | Substitution - coding silent |
c.7G>A; p.A3T; 8:86528552-86528552 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1276A>G; p.I426V; 8:86556123-86556123 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1210G>A; p.V404M; 8:86554940-86554940 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1235C>T; p.T412M; 8:86554965-86554965 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1210G>A; p.V404M; 8:86554940-86554940 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1235C>T; p.T412M; 8:86554965-86554965 |
thyroid | other; neoplasm | Substitution - Missense |
c.1524_1525GG>TT; p.L508_A509>FS; 8:86558320-86558321 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Complex - compound substitution |
c.413A>C; p.N138T; 8:86532534-86532534 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.430G>C; p.E144Q; 8:86532551-86532551 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.370G>A; p.G124R; 8:86531212-86531212 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1250C>T; p.A417V; 8:86554980-86554980 |
skin | malignant_melanoma | Substitution - Missense |
c.1371A>G; p.G457G; 8:86556218-86556218 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.700A>G; p.T234A; 8:86544806-86544806 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1462C>T; p.Q488*; 8:86556309-86556309 |
skin | malignant_melanoma | Substitution - Nonsense |
c.388-1G>T; p.?; 8:86532508-86532508 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1013C>T; p.A338V; 8:86548434-86548434 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.424T>G; p.L142V; 8:86532545-86532545 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.756_757insA; p.R255fs*19; 8:86546618-86546619 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.133-7G>A; p.?; 8:86528938-86528938 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.771G>A; p.K257K; 8:86546633-86546633 |
skin; upper_arm | malignant_melanoma | Substitution - coding silent |
c.1402G>T; p.D468Y; 8:86556249-86556249 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.476C>A; p.S159*; 8:86537579-86537579 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.976C>A; p.L326I; 8:86548397-86548397 |
ovary | other; neoplasm | Substitution - Missense |
c.822T>C; p.I274I; 8:86547713-86547713 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.416G>C; p.R139T; 8:86532537-86532537 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.592C>T; p.L198F; 8:86540293-86540293 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.689A>G; p.Q230R; 8:86544795-86544795 |
skin | malignant_melanoma | Substitution - Missense |
c.757delA; p.R255fs*15; 8:86546619-86546619 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.675C>T; p.L225L; 8:86544781-86544781 |
skin | malignant_melanoma | Substitution - coding silent |
c.249C>T; p.D83D; 8:86529061-86529061 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.937T>C; p.Y313H; 8:86548358-86548358 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.479A>T; p.D160V; 8:86537582-86537582 |
breast | carcinoma | Substitution - Missense |
c.1141G>A; p.A381T; 8:86554871-86554871 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1329T>G; p.N443K; 8:86556176-86556176 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1207C>A; p.H403N; 8:86554937-86554937 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.139C>T; p.R47C; 8:86528951-86528951 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1356A>C; p.I452I; 8:86556203-86556203 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.791C>T; p.S264L; 8:86546653-86546653 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.225_226delGA; p.K76fs*5; 8:86529037-86529038 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.888G>A; p.V296V; 8:86548309-86548309 |
skin | malignant_melanoma | Substitution - coding silent |
c.932T>C; p.L311P; 8:86548353-86548353 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.339A>G; p.R113R; 8:86531181-86531181 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1613G>A; p.*538*; 8:86558409-86558409 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.266T>C; p.L89P; 8:86529078-86529078 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.883G>A; p.G295R; 8:86548304-86548304 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |