lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	54623
Symbol	PAF1
Synonymous	F23149_1\|PD2
Full name	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)
Gene description	RNA polymerase II-associated factor 1 homolog\|pancreatic differentiation protein 2
Cytoband	19q13.1
Gene type	protein-coding
Synonymous	MIM:610506; HGNC:HGNC:25459; Ensembl:ENSG00000006712; HPRD:10140; Vega:OTTHUMG00000182968

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.901A>C; p.N301H; 19:39388424-39388424	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.258C>T; p.L86L; 19:39389674-39389674	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1195_1197delGAG; p.E399delE; 19:39386390-39386392	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - In frame
c.1004G>A; p.R335H; 19:39386782-39386782	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1524G>A; p.E508E; 19:39386063-39386063	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.218A>T; p.D73V; 19:39389714-39389714	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1405G>T; p.E469*; 19:39386182-39386182	skin	malignant_melanoma	Substitution - Nonsense
c.73G>T; p.E25*; 19:39390264-39390264	breast	carcinoma	Substitution - Nonsense
c.609G>T; p.E203D; 19:39388974-39388974	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1405G>T; p.E469*; 19:39386182-39386182	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.113G>T; p.S38I; 19:39390126-39390126	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.390G>A; p.W130*; 19:39389353-39389353	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1477A>G; p.S493G; 19:39386110-39386110	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1477A>G; p.S493G; 19:39386110-39386110	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1039G>A; p.A347T; 19:39386747-39386747	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1564G>A; p.D522N; 19:39386023-39386023	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1477A>G; p.S493G; 19:39386110-39386110	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1477A>G; p.S493G; 19:39386110-39386110	urinary_tract; bladder	carcinoma	Substitution - Missense
c.220C>A; p.L74I; 19:39389712-39389712	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1259G>A; p.R420Q; 19:39386328-39386328	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1100G>A; p.R367Q; 19:39386565-39386565	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.526A>C; p.I176L; 19:39389134-39389134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.256C>T; p.L86F; 19:39389676-39389676	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.711G>A; p.A237A; 19:39388791-39388791	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1072G>A; p.E358K; 19:39386714-39386714	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1405G>A; p.E469K; 19:39386182-39386182	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1387G>A; p.D463N; 19:39386200-39386200	kidney	Wilms_tumour	Substitution - Missense
c.216T>G; p.H72Q; 19:39389716-39389716	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1127C>T; p.P376L; 19:39386538-39386538	skin	malignant_melanoma	Substitution - Missense
c.445G>A; p.E149K; 19:39389298-39389298	breast	carcinoma	Substitution - Missense
c.1216_1218delAAG; p.K406delK; 19:39386369-39386371	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.1556_1579del24; p.A519_A526delAASDSSEA; 19:39386008-39386031	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - In frame
c.568-8T>G; p.?; 19:39389023-39389023	kidney	other; neoplasm	Unknown
c.1424A>T; p.Q475L; 19:39386163-39386163	liver	carcinoma	Substitution - Missense
c.1424A>T; p.Q475L; 19:39386163-39386163	liver	carcinoma	Substitution - Missense
c.82G>T; p.G28*; 19:39390157-39390157	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1292A>G; p.K431R; 19:39386295-39386295	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.917G>A; p.G306D; 19:39388408-39388408	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.931T>C; p.Y311H; 19:39388394-39388394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.796G>A; p.E266K; 19:39388621-39388621	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1466G>C; p.G489A; 19:39386121-39386121	urinary_tract; bladder	carcinoma	Substitution - Missense
c.986+7A>G; p.?; 19:39388332-39388332	pancreas	carcinoma	Unknown
c.217G>C; p.D73H; 19:39389715-39389715	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.401C>T; p.T134I; 19:39389342-39389342	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.401C>T; p.T134I; 19:39389342-39389342	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1241C>T; p.S414L; 19:39386346-39386346	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1035C>A; p.T345T; 19:39386751-39386751	prostate	adenoma	Substitution - coding silent
c.372C>T; p.H124H; 19:39389371-39389371	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.602C>T; p.P201L; 19:39388981-39388981	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.215A>G; p.H72R; 19:39389717-39389717	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1248C>T; p.S416S; 19:39386339-39386339	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1442A>C; p.D481A; 19:39386145-39386145	liver	carcinoma	Substitution - Missense
c.1008G>A; p.R336R; 19:39386778-39386778	skin	malignant_melanoma	Substitution - coding silent
c.1442A>C; p.D481A; 19:39386145-39386145	liver	carcinoma	Substitution - Missense
c.1353G>A; p.E451E; 19:39386234-39386234	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.853G>A; p.D285N; 19:39388564-39388564	skin	malignant_melanoma	Substitution - Missense
c.51C>A; p.P17P; 19:39390286-39390286	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.394C>T; p.R132*; 19:39389349-39389349	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1258C>T; p.R420W; 19:39386329-39386329	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.683delC; p.K230fs*11; 19:39388819-39388819	prostate	carcinoma	Deletion - Frameshift
c.375G>A; p.A125A; 19:39389368-39389368	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1414G>T; p.G472*; 19:39386173-39386173	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.375G>A; p.A125A; 19:39389368-39389368	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1029A>G; p.S343S; 19:39386757-39386757	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.282C>T; p.I94I; 19:39389650-39389650	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1492C>T; p.R498C; 19:39386095-39386095	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.214C>A; p.H72N; 19:39389718-39389718	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1149G>A; p.E383E; 19:39386516-39386516	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.800C>T; p.T267M; 19:39388617-39388617	pancreas	carcinoma	Substitution - Missense
c.222C>G; p.L74L; 19:39389710-39389710	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.325G>A; p.E109K; 19:39389514-39389514	skin	malignant_melanoma	Substitution - Missense
c.812G>A; p.R271Q; 19:39388605-39388605	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.818G>A; p.R273Q; 19:39388599-39388599	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.568-3C>T; p.?; 19:39389018-39389018	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.963T>C; p.V321V; 19:39388362-39388362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1312G>A; p.E438K; 19:39386275-39386275	pancreas	carcinoid-endocrine_tumour; islet_cell	Substitution - Missense
c.212A>G; p.K71R; 19:39389720-39389720	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1312G>A; p.E438K; 19:39386275-39386275	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.399G>C; p.K133N; 19:39389344-39389344	skin	malignant_melanoma	Substitution - Missense
c.1233T>C; p.D411D; 19:39386354-39386354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.32G>T; p.R11L; 19:39390833-39390833	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.741-1G>A; p.?; 19:39388677-39388677	stomach	carcinoma; adenocarcinoma	Unknown
c.890G>T; p.W297L; 19:39388435-39388435	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.227_230delCTGA; p.T76fs*24; 19:39389702-39389705	liver	carcinoma	Deletion - Frameshift
c.528C>T; p.I176I; 19:39389132-39389132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1293G>C; p.K431N; 19:39386294-39386294	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1293G>C; p.K431N; 19:39386294-39386294	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1474C>T; p.R492W; 19:39386113-39386113	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.315G>T; p.E105D; 19:39389524-39389524	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1321G>A; p.E441K; 19:39386266-39386266	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1192_1193insAGGAGAAG; p.G401fs*>134; 19:39386394-39386395	lung	carcinoma	Insertion - Frameshift
c.216T>C; p.H72H; 19:39389716-39389716	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1413A>C; p.R471S; 19:39386174-39386174	liver	carcinoma	Substitution - Missense
c.1413A>C; p.R471S; 19:39386174-39386174	liver	carcinoma	Substitution - Missense
c.1446A>G; p.S482S; 19:39386141-39386141	liver	carcinoma	Substitution - coding silent
c.1446A>G; p.S482S; 19:39386141-39386141	liver	carcinoma	Substitution - coding silent
c.829G>A; p.E277K; 19:39388588-39388588	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1408G>A; p.D470N; 19:39386179-39386179	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.159C>T; p.F53F; 19:39390080-39390080	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.447G>A; p.E149E; 19:39389296-39389296	skin	malignant_melanoma	Substitution - coding silent
c.221T>G; p.L74R; 19:39389711-39389711	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1467T>G; p.G489G; 19:39386120-39386120	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1467T>G; p.G489G; 19:39386120-39386120	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1065C>T; p.D355D; 19:39386721-39386721	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.525G>A; p.Q175Q; 19:39389135-39389135	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1028C>T; p.S343L; 19:39386758-39386758	urinary_tract; bladder	carcinoma	Substitution - Missense
c.283G>T; p.D95Y; 19:39389649-39389649	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1206C>T; p.S402S; 19:39386381-39386381	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.222C>T; p.L74L; 19:39389710-39389710	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1060C>T; p.R354W; 19:39386726-39386726	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1067T>C; p.M356T; 19:39386719-39386719	pancreas	carcinoma	Substitution - Missense
c.210C>G; p.H70Q; 19:39389722-39389722	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.373G>A; p.A125T; 19:39389370-39389370	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1423delC; p.Q475fs*>57; 19:39386164-39386164	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1067T>C; p.M356T; 19:39386719-39386719	breast	carcinoma	Substitution - Missense
c.1454delG; p.G485fs*>47; 19:39386133-39386133	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation