Entrez Gene

Basic Information
Gene ID	284119
Name	PTRF
Synonymous	polymerase I and transcript release factor;PTRF;polymerase I and transcript release factor
Definition	RNA polymerase I and transcript release factor\|TTF-I interacting peptide 12
Position	17q21.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1053C>T; p.G351G; 17:42404807-42404807	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.800G>A; p.R267Q; 17:42405060-42405060	urinary_tract; bladder	carcinoma	Substitution - Missense
c.110G>A; p.G37E; 17:42422988-42422988	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1008C>T; p.L336L; 17:42404852-42404852	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.506G>A; p.S169N; 17:42405354-42405354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.664A>T; p.K222*; 17:42405196-42405196	breast	carcinoma	Substitution - Nonsense
c.881G>A; p.R294Q; 17:42404979-42404979	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.590C>T; p.A197V; 17:42405270-42405270	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.942G>A; p.A314A; 17:42404918-42404918	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.108G>A; p.S36S; 17:42422990-42422990	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.856C>T; p.R286W; 17:42405004-42405004	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.530C>T; p.A177V; 17:42405330-42405330	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.786C>A; p.N262K; 17:42405074-42405074	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.892C>T; p.R298C; 17:42404968-42404968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.930_931insGC; p.S311fs*>81; 17:42404929-42404930	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.230A>T; p.E77V; 17:42422868-42422868	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.350T>A; p.V117D; 17:42422748-42422748	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.370G>A; p.V124M; 17:42422728-42422728	skin	malignant_melanoma	Substitution - Missense
c.239C>G; p.A80G; 17:42422859-42422859	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>G; p.A80G; 17:42422859-42422859	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>G; p.A80G; 17:42422859-42422859	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>G; p.A80G; 17:42422859-42422859	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>G; p.A80G; 17:42422859-42422859	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>G; p.A80G; 17:42422859-42422859	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>G; p.A80G; 17:42422859-42422859	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>G; p.A80G; 17:42422859-42422859	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>G; p.A80G; 17:42422859-42422859	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>G; p.A80G; 17:42422859-42422859	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>G; p.A80G; 17:42422859-42422859	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>G; p.A80G; 17:42422859-42422859	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.928C>T; p.R310C; 17:42404932-42404932	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1137G>A; p.S379S; 17:42404723-42404723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.652G>A; p.A218T; 17:42405208-42405208	prostate	carcinoma	Substitution - Missense
c.652G>A; p.A218T; 17:42405208-42405208	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.672C>T; p.S224S; 17:42405188-42405188	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.88C>G; p.Q30E; 17:42423010-42423010	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.986G>A; p.R329H; 17:42404874-42404874	urinary_tract; bladder	carcinoma	Substitution - Missense
c.71C>T; p.P24L; 17:42423027-42423027	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1066G>T; p.G356W; 17:42404794-42404794	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.889T>G; p.L297V; 17:42404971-42404971	skin	malignant_melanoma	Substitution - Missense
c.112delG; p.A38fs*6; 17:42422986-42422986	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.799C>T; p.R267W; 17:42405061-42405061	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.89A>G; p.Q30R; 17:42423009-42423009	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.847C>T; p.P283S; 17:42405013-42405013	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.335A>G; p.E112G; 17:42422763-42422763	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.333G>T; p.L111L; 17:42422765-42422765	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.658C>T; p.R220C; 17:42405202-42405202	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.525G>A; p.S175S; 17:42405335-42405335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.682C>T; p.R228C; 17:42405178-42405178	liver	carcinoma	Substitution - Missense
c.28G>C; p.E10Q; 17:42423070-42423070	urinary_tract; bladder	carcinoma	Substitution - Missense
c.940G>A; p.A314T; 17:42404920-42404920	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.653C>T; p.A218V; 17:42405207-42405207	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1074C>T; p.A358A; 17:42404786-42404786	skin	malignant_melanoma	Substitution - coding silent
c.1111G>A; p.A371T; 17:42404749-42404749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.513G>A; p.S171S; 17:42405347-42405347	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.663C>T; p.I221I; 17:42405197-42405197	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1036G>A; p.A346T; 17:42404824-42404824	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.293A>G; p.K98R; 17:42422805-42422805	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.85G>A; p.A29T; 17:42423013-42423013	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.733A>T; p.K245*; 17:42405127-42405127	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.519A>T; p.K173N; 17:42405341-42405341	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.668G>A; p.R223H; 17:42405192-42405192	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.766C>T; p.R256C; 17:42405094-42405094	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.242A>G; p.E81G; 17:42422856-42422856	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.242A>G; p.E81G; 17:42422856-42422856	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.242A>G; p.E81G; 17:42422856-42422856	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.242A>G; p.E81G; 17:42422856-42422856	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.242A>G; p.E81G; 17:42422856-42422856	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.242A>G; p.E81G; 17:42422856-42422856	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.242A>G; p.E81G; 17:42422856-42422856	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.242A>G; p.E81G; 17:42422856-42422856	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.242A>G; p.E81G; 17:42422856-42422856	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.242A>G; p.E81G; 17:42422856-42422856	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.242A>G; p.E81G; 17:42422856-42422856	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.986G>T; p.R329L; 17:42404874-42404874	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.605C>T; p.S202L; 17:42405255-42405255	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.605C>T; p.S202L; 17:42405255-42405255	skin	malignant_melanoma	Substitution - Missense
c.605C>T; p.S202L; 17:42405255-42405255	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.605C>T; p.S202L; 17:42405255-42405255	skin	malignant_melanoma	Substitution - Missense
c.1014C>T; p.A338A; 17:42404846-42404846	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1054G>A; p.G352S; 17:42404806-42404806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.723G>T; p.M241I; 17:42405137-42405137	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.179A>C; p.K60T; 17:42422919-42422919	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.253G>T; p.A85S; 17:42422845-42422845	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.859C>T; p.R287C; 17:42405001-42405001	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.988G>A; p.E330K; 17:42404872-42404872	urinary_tract; bladder	carcinoma	Substitution - Missense
c.893G>A; p.R298H; 17:42404967-42404967	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.797C>T; p.T266M; 17:42405063-42405063	breast	carcinoma	Substitution - Missense
c.740G>A; p.R247H; 17:42405120-42405120	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.740G>A; p.R247H; 17:42405120-42405120	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.909C>T; p.P303P; 17:42404951-42404951	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.418G>A; p.V140I; 17:42422680-42422680	liver	carcinoma	Substitution - Missense
c.418G>A; p.V140I; 17:42422680-42422680	liver	carcinoma	Substitution - Missense
c.1041C>T; p.D347D; 17:42404819-42404819	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.882G>T; p.R294R; 17:42404978-42404978	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1041C>T; p.D347D; 17:42404819-42404819	liver	carcinoma	Substitution - coding silent
c.1041C>T; p.D347D; 17:42404819-42404819	liver	carcinoma	Substitution - coding silent
c.562G>A; p.E188K; 17:42405298-42405298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.40C>A; p.P14T; 17:42423058-42423058	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.764C>T; p.T255M; 17:42405096-42405096	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1067G>T; p.G356V; 17:42404793-42404793	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.88C>T; p.Q30*; 17:42423010-42423010	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.673G>A; p.G225S; 17:42405187-42405187	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1060G>C; p.E354Q; 17:42404800-42404800	breast	carcinoma	Substitution - Missense
c.975C>G; p.V325V; 17:42404885-42404885	breast	carcinoma	Substitution - coding silent
c.104C>T; p.P35L; 17:42422994-42422994	breast	carcinoma	Substitution - Missense
c.899C>G; p.S300C; 17:42404961-42404961	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.875C>T; p.T292M; 17:42404985-42404985	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.680G>T; p.R227L; 17:42405180-42405180	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.574C>A; p.P192T; 17:42405286-42405286	skin	malignant_melanoma	Substitution - Missense
c.612C>T; p.D204D; 17:42405248-42405248	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.906G>T; p.T302T; 17:42404954-42404954	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.181A>T; p.I61F; 17:42422917-42422917	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]