| Gene ID | 10898 |
| Symbol | CPSF4 |
| Synonymous | CPSF30|NAR|NEB1 |
| Full name | cleavage and polyadenylation specific factor 4, 30kDa |
| Gene description | CPSF 30 kDa subunit|NS1 effector domain-binding protein 1|cleavage and polyadenylation specificity factor 30 kDa subunit|cleavage and polyadenylation specificity factor subunit 4|cleavage-polyadenylation specificity factor, 30kD|neb-1|no arches homolog|no |
| Cytoband | 7q22.1 |
| Gene type | protein-coding |
| Synonymous | MIM:603052; HGNC:HGNC:2327; Ensembl:ENSG00000160917; HPRD:04338; Vega:OTTHUMG00000154599 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.786C>A; p.H262Q; 7:99456476-99456476 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.600G>A; p.S200S; 7:99453995-99453995 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.112G>A; p.A38T; 7:99444797-99444797 |
liver | carcinoma | Substitution - Missense |
c.112G>A; p.A38T; 7:99444797-99444797 |
liver | carcinoma | Substitution - Missense |
c.763G>A; p.A255T; 7:99456453-99456453 |
breast | carcinoma | Substitution - Missense |
c.621G>A; p.T207T; 7:99454016-99454016 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.345C>T; p.I115I; 7:99450313-99450313 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.342C>T; p.H114H; 7:99450310-99450310 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.366G>T; p.K122N; 7:99450334-99450334 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.702C>T; p.N234N; 7:99454097-99454097 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.695C>T; p.A232V; 7:99454090-99454090 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.119T>C; p.V40A; 7:99444804-99444804 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.503G>A; p.R168Q; 7:99452373-99452373 |
breast | carcinoma | Substitution - Missense |
c.545C>A; p.P182Q; 7:99452415-99452415 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.302A>C; p.K101T; 7:99448268-99448268 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.472G>C; p.E158Q; 7:99450770-99450770 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.454C>T; p.L152F; 7:99450752-99450752 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.655C>A; p.P219T; 7:99454050-99454050 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.508G>C; p.E170Q; 7:99452378-99452378 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.99G>C; p.M33I; 7:99439181-99439181 |
pancreas | carcinoma | Substitution - Missense |
c.457G>A; p.V153M; 7:99450755-99450755 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.284A>T; p.E95V; 7:99448250-99448250 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.670G>A; p.V224I; 7:99454065-99454065 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.747C>T; p.G249G; 7:99456437-99456437 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.747C>T; p.G249G; 7:99456437-99456437 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.217C>T; p.R73C; 7:99448183-99448183 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.260A>C; p.E87A; 7:99448226-99448226 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.260A>C; p.E87A; 7:99448226-99448226 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.655_656CC>AA; p.P219K; 7:99454050-99454051 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.546G>A; p.P182P; 7:99452416-99452416 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.129C>T; p.F43F; 7:99444814-99444814 |
skin | malignant_melanoma | Substitution - coding silent |
c.296A>C; p.Y99S; 7:99448262-99448262 |
breast | carcinoma | Substitution - Missense |
c.180C>T; p.I60I; 7:99448146-99448146 |
pancreas | carcinoma | Substitution - coding silent |
c.136A>T; p.K46*; 7:99444821-99444821 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.296A>G; p.Y99C; 7:99448262-99448262 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.413G>A; p.C138Y; 7:99450711-99450711 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.129C>G; p.F43L; 7:99444814-99444814 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.672C>T; p.V224V; 7:99454067-99454067 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.387T>C; p.R129R; 7:99450355-99450355 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.599C>T; p.S200L; 7:99453994-99453994 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.294C>A; p.F98L; 7:99448260-99448260 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.108G>A; p.S36S; 7:99444793-99444793 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.667G>A; p.G223R; 7:99454062-99454062 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.694G>A; p.A232T; 7:99454089-99454089 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.456C>T; p.L152L; 7:99450754-99450754 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.399G>A; p.K133K; 7:99450367-99450367 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.46G>C; p.E16Q; 7:99439128-99439128 |
pancreas | carcinoma | Substitution - Missense |