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	22827
Symbol	PUF60
Synonymous	FIR\|RoBPI\|SIAHBP1\|VRJS
Full name	poly-U binding splicing factor 60KDa
Gene description	FBP interacting repressor\|FUSE-binding protein-interacting repressor\|Ro ribonucleoprotein-binding protein 1\|Siah binding protein 1\|poly(U)-binding-splicing factor PUF60\|pyrimidine tract binding splicing factor
Cytoband	8q24.3
Gene type	protein-coding
Synonymous	MIM:604819; HGNC:HGNC:17042; Ensembl:ENSG00000179950; HPRD:18051; Vega:OTTHUMG00000165155

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1028C>T; p.A343V; 8:143817447-143817447	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.72_74delGGC; p.A25delA; 8:143824350-143824352	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - In frame
c.345A>G; p.Q115Q; 8:143820669-143820669	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1162C>T; p.P388S; 8:143817128-143817128	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1485C>T; p.R495R; 8:143816715-143816715	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.717C>T; p.D239D; 8:143817962-143817962	pancreas	carcinoma	Substitution - coding silent
c.338C>A; p.P113H; 8:143820676-143820676	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.32A>G; p.N11S; 8:143824392-143824392	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.471C>T; p.S157S; 8:143818412-143818412	liver	carcinoma	Substitution - coding silent
c.471C>T; p.S157S; 8:143818412-143818412	liver	carcinoma	Substitution - coding silent
c.179C>T; p.T60M; 8:143821846-143821846	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.179C>T; p.T60M; 8:143821846-143821846	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1647G>A; p.Q549Q; 8:143816553-143816553	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.679C>T; p.R227C; 8:143818000-143818000	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.954C>T; p.L318L; 8:143817646-143817646	skin	malignant_melanoma	Substitution - coding silent
c.390C>T; p.R130R; 8:143818493-143818493	ovary	other; neoplasm	Substitution - coding silent
c.1176C>T; p.V392V; 8:143817114-143817114	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.315_316GG>AA; p.M105_G106>IS; 8:143820698-143820699	skin; head_neck	carcinoma; squamous_cell_carcinoma	Complex - compound substitution
c.981T>G; p.A327A; 8:143817619-143817619	prostate	carcinoma	Substitution - coding silent
c.1264G>A; p.E422K; 8:143817026-143817026	breast	carcinoma	Substitution - Missense
c.1467G>C; p.K489N; 8:143816733-143816733	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1278C>A; p.P426P; 8:143817012-143817012	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.61G>C; p.A21P; 8:143824363-143824363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.825G>T; p.E275D; 8:143817775-143817775	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.691G>C; p.A231P; 8:143817988-143817988	prostate	carcinoma	Substitution - Missense
c.564G>A; p.E188E; 8:143818232-143818232	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.338C>T; p.P113L; 8:143820676-143820676	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1619G>A; p.R540H; 8:143816581-143816581	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1172C>T; p.P391L; 8:143817118-143817118	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.688G>A; p.V230M; 8:143817991-143817991	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.688G>A; p.V230M; 8:143817991-143817991	NS	malignant_melanoma	Substitution - Missense
c.1618C>T; p.R540C; 8:143816582-143816582	skin	malignant_melanoma	Substitution - Missense
c.1539C>G; p.V513V; 8:143816661-143816661	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1486G>A; p.V496I; 8:143816714-143816714	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1486G>A; p.V496I; 8:143816714-143816714	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1477G>A; p.V493M; 8:143816723-143816723	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.761_762CC>TT; p.S254F; 8:143817917-143817918	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1128A>T; p.A376A; 8:143817347-143817347	oesophagus	carcinoma	Substitution - coding silent
c.1483C>A; p.R495S; 8:143816717-143816717	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.928C>T; p.L310F; 8:143817672-143817672	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1467delG; p.K489fs*5; 8:143816733-143816733	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.419T>C; p.L140P; 8:143818464-143818464	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.419T>C; p.L140P; 8:143818464-143818464	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.675C>T; p.F225F; 8:143818004-143818004	skin	malignant_melanoma	Substitution - coding silent
c.670G>A; p.A224T; 8:143818009-143818009	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1503G>T; p.E501D; 8:143816697-143816697	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1399C>T; p.R467C; 8:143816801-143816801	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1120G>T; p.A374S; 8:143817355-143817355	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1187C>T; p.S396L; 8:143817103-143817103	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1187C>T; p.S396L; 8:143817103-143817103	urinary_tract; bladder	carcinoma	Substitution - Missense
c.600C>T; p.I200I; 8:143818196-143818196	breast	carcinoma	Substitution - coding silent
c.1404C>A; p.N468K; 8:143816796-143816796	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1094G>A; p.G365D; 8:143817381-143817381	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1509delA; p.G504fs*18; 8:143816691-143816691	breast	carcinoma	Deletion - Frameshift
c.62C>T; p.A21V; 8:143824362-143824362	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.301G>A; p.A101T; 8:143820713-143820713	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1532T>G; p.I511S; 8:143816668-143816668	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.764G>A; p.C255Y; 8:143817915-143817915	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.487G>A; p.D163N; 8:143818396-143818396	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.436C>T; p.R146C; 8:143818447-143818447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1518G>A; p.E506E; 8:143816682-143816682	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1329G>T; p.S443S; 8:143816961-143816961	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1269G>A; p.E423E; 8:143817021-143817021	pancreas	carcinoma	Substitution - coding silent
c.1269G>A; p.E423E; 8:143817021-143817021	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.493G>A; p.V165I; 8:143818390-143818390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation