| Gene ID | 10970 |
| Symbol | CKAP4 |
| Synonymous | CLIMP-63|ERGIC-63|p63 |
| Full name | cytoskeleton-associated protein 4 |
| Gene description | 63 kDa membrane protein|63-kDa cytoskeleton-linking membrane protein|transmembrane protein (63kD), endoplasmic reticulum/Golgi intermediate compartment|type-II transmembrane protein p63 |
| Cytoband | 12q23.3 |
| Gene type | protein-coding |
| Synonymous | HGNC:HGNC:16991; Ensembl:ENSG00000136026; HPRD:16717; Vega:OTTHUMG00000170085 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.891G>A; p.Q297Q; 12:106239942-106239942 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1210C>G; p.Q404E; 12:106239623-106239623 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.426G>A; p.Q142Q; 12:106247426-106247426 |
parathyroid | carcinoma | Substitution - coding silent |
c.1340G>T; p.R447L; 12:106239493-106239493 |
pancreas | carcinoma | Substitution - Missense |
c.420C>T; p.S140S; 12:106247432-106247432 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.420C>T; p.S140S; 12:106247432-106247432 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1484A>T; p.E495V; 12:106239349-106239349 |
oesophagus | carcinoma | Substitution - Missense |
c.585T>A; p.S195R; 12:106240248-106240248 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1509C>G; p.L503L; 12:106239324-106239324 |
NS | NS | Substitution - coding silent |
c.1798G>A; p.E600K; 12:106239035-106239035 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1397A>T; p.D466V; 12:106239436-106239436 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1026C>T; p.A342A; 12:106239807-106239807 |
pancreas | carcinoma; adenocarcinoma | Substitution - coding silent |
c.443G>A; p.R148K; 12:106247409-106247409 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1265C>T; p.S422F; 12:106239568-106239568 |
skin | malignant_melanoma | Substitution - Missense |
c.1265C>T; p.S422F; 12:106239568-106239568 |
skin | malignant_melanoma | Substitution - Missense |
c.1027G>A; p.D343N; 12:106239806-106239806 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1251G>T; p.E417D; 12:106239582-106239582 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1630A>G; p.S544G; 12:106239203-106239203 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.427G>T; p.D143Y; 12:106247425-106247425 |
liver | carcinoma | Substitution - Missense |
c.427G>T; p.D143Y; 12:106247425-106247425 |
liver | carcinoma | Substitution - Missense |
c.979G>A; p.E327K; 12:106239854-106239854 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.676C>T; p.R226W; 12:106240157-106240157 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1668T>G; p.A556A; 12:106239165-106239165 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1713G>A; p.E571E; 12:106239120-106239120 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1713G>A; p.E571E; 12:106239120-106239120 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.513T>G; p.T171T; 12:106240320-106240320 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.622C>T; p.Q208*; 12:106240211-106240211 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1222G>T; p.G408*; 12:106239611-106239611 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1629C>T; p.V543V; 12:106239204-106239204 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1071C>T; p.L357L; 12:106239762-106239762 |
skin | malignant_melanoma | Substitution - coding silent |
c.342C>A; p.L114L; 12:106247510-106247510 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.604G>A; p.E202K; 12:106240229-106240229 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.604G>A; p.E202K; 12:106240229-106240229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.128C>A; p.P43Q; 12:106247724-106247724 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.785G>A; p.S262N; 12:106240048-106240048 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.522C>A; p.S174S; 12:106240311-106240311 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.581A>G; p.E194G; 12:106240252-106240252 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1729G>A; p.A577T; 12:106239104-106239104 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1316C>T; p.S439F; 12:106239517-106239517 |
skin | malignant_melanoma | Substitution - Missense |
c.707C>A; p.T236K; 12:106240126-106240126 |
pancreas | carcinoma | Substitution - Missense |
c.1623C>A; p.A541A; 12:106239210-106239210 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.906C>T; p.S302S; 12:106239927-106239927 |
thyroid | carcinoma | Substitution - coding silent |
c.1308C>T; p.S436S; 12:106239525-106239525 |
skin | malignant_melanoma | Substitution - coding silent |
c.211G>T; p.G71C; 12:106247641-106247641 |
liver | carcinoma | Substitution - Missense |
c.1151C>T; p.S384F; 12:106239682-106239682 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.425A>G; p.Q142R; 12:106247427-106247427 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1025C>T; p.A342V; 12:106239808-106239808 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1333G>A; p.E445K; 12:106239500-106239500 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1188G>T; p.S396S; 12:106239645-106239645 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1536G>A; p.T512T; 12:106239297-106239297 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1147G>C; p.D383H; 12:106239686-106239686 |
breast | carcinoma | Substitution - Missense |
c.1536G>A; p.T512T; 12:106239297-106239297 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1333G>A; p.E445K; 12:106239500-106239500 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1572G>A; p.L524L; 12:106239261-106239261 |
liver | carcinoma | Substitution - coding silent |
c.647C>T; p.S216L; 12:106240186-106240186 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1572G>A; p.L524L; 12:106239261-106239261 |
liver | carcinoma | Substitution - coding silent |
c.1390G>C; p.D464H; 12:106239443-106239443 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.765C>T; p.F255F; 12:106240068-106240068 |
skin | malignant_melanoma | Substitution - coding silent |
c.1112G>A; p.R371Q; 12:106239721-106239721 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.718C>T; p.R240W; 12:106240115-106240115 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1791G>T; p.K597N; 12:106239042-106239042 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1625C>T; p.S542L; 12:106239208-106239208 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1042G>C; p.A348P; 12:106239791-106239791 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1042G>C; p.A348P; 12:106239791-106239791 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1042G>C; p.A348P; 12:106239791-106239791 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1042G>C; p.A348P; 12:106239791-106239791 |
thyroid | other; neoplasm | Substitution - Missense |
c.1042G>C; p.A348P; 12:106239791-106239791 |
thyroid | other; neoplasm | Substitution - Missense |
c.1024G>A; p.A342T; 12:106239809-106239809 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.910G>T; p.E304*; 12:106239923-106239923 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.885G>A; p.E295E; 12:106239948-106239948 |
liver | carcinoma | Substitution - coding silent |
c.1100C>T; p.P367L; 12:106239733-106239733 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.553C>A; p.L185I; 12:106240280-106240280 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.907A>G; p.R303G; 12:106239926-106239926 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1161G>A; p.P387P; 12:106239672-106239672 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1043C>T; p.A348V; 12:106239790-106239790 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1161G>A; p.P387P; 12:106239672-106239672 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1285C>T; p.R429C; 12:106239548-106239548 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1042G>A; p.A348T; 12:106239791-106239791 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1042G>A; p.A348T; 12:106239791-106239791 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1042G>A; p.A348T; 12:106239791-106239791 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1042G>A; p.A348T; 12:106239791-106239791 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1042G>A; p.A348T; 12:106239791-106239791 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1375G>A; p.G459R; 12:106239458-106239458 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1042G>A; p.A348T; 12:106239791-106239791 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1340G>A; p.R447H; 12:106239493-106239493 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.719G>A; p.R240Q; 12:106240114-106240114 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1105G>C; p.E369Q; 12:106239728-106239728 |
breast | carcinoma | Substitution - Missense |
c.785G>T; p.S262I; 12:106240048-106240048 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1413G>A; p.T471T; 12:106239420-106239420 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1595G>T; p.R532I; 12:106239238-106239238 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.347T>C; p.L116P; 12:106247505-106247505 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1155C>T; p.H385H; 12:106239678-106239678 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.692C>T; p.T231M; 12:106240141-106240141 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.883G>A; p.E295K; 12:106239950-106239950 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.892A>G; p.T298A; 12:106239941-106239941 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1188G>A; p.S396S; 12:106239645-106239645 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1283C>T; p.A428V; 12:106239550-106239550 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1188G>A; p.S396S; 12:106239645-106239645 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.887T>C; p.I296T; 12:106239946-106239946 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1770G>T; p.R590S; 12:106239063-106239063 |
liver | carcinoma | Substitution - Missense |
c.1770G>T; p.R590S; 12:106239063-106239063 |
liver | carcinoma | Substitution - Missense |
c.757G>A; p.A253T; 12:106240076-106240076 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1101G>A; p.P367P; 12:106239732-106239732 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.138_140delGCC; p.P47delP; 12:106247712-106247714 |
liver | carcinoma | Deletion - In frame |
c.1711G>A; p.E571K; 12:106239122-106239122 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.972G>T; p.E324D; 12:106239861-106239861 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1711G>A; p.E571K; 12:106239122-106239122 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1534A>T; p.T512S; 12:106239299-106239299 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.688T>G; p.F230V; 12:106240145-106240145 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |