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	29803
Symbol	REPIN1
Synonymous	AP4\|RIP60\|ZNF464\|Zfp464
Full name	replication initiator 1
Gene description	60 kDa origin-specific DNA-binding protein\|60 kDa replication initiation region protein\|ATT-binding protein\|DHFR oribeta-binding protein RIP60\|H_DJ0584D14.12\|replication initiation region protein (60kD)\|zinc finger protein 464 (RIP60)\|zinc finger protein
Cytoband	7q36.1
Gene type	protein-coding
Synonymous	HGNC:HGNC:17922; Ensembl:ENSG00000214022; HPRD:17966; Vega:OTTHUMG00000158330

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1358A>T; p.H453L; 7:150372599-150372599	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.704C>A; p.P235H; 7:150371945-150371945	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.481C>G; p.R161G; 7:150371722-150371722	liver	carcinoma	Substitution - Missense
c.1329C>A; p.G443G; 7:150372570-150372570	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1329C>A; p.G443G; 7:150372570-150372570	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.481C>G; p.R161G; 7:150371722-150371722	liver	carcinoma	Substitution - Missense
c.494G>A; p.R165Q; 7:150371735-150371735	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1371G>T; p.R457R; 7:150372612-150372612	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1656C>G; p.F552L; 7:150372897-150372897	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1656C>G; p.F552L; 7:150372897-150372897	urinary_tract; bladder	carcinoma	Substitution - Missense
c.736C>A; p.R246R; 7:150371977-150371977	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.764G>A; p.R255H; 7:150372005-150372005	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.938T>A; p.I313N; 7:150372179-150372179	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1446C>T; p.T482T; 7:150372687-150372687	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1497G>T; p.K499N; 7:150372738-150372738	breast	carcinoma	Substitution - Missense
c.915C>T; p.P305P; 7:150372156-150372156	skin	malignant_melanoma	Substitution - coding silent
c.1023C>T; p.A341A; 7:150372264-150372264	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1066_1077del12; p.P356_A359delPPGA; 7:150372307-150372318	liver	carcinoma	Deletion - In frame
c.1574G>A; p.S525N; 7:150372815-150372815	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1066_1077del12; p.P356_A359delPPGA; 7:150372307-150372318	prostate	carcinoma	Deletion - In frame
c.1109delC; p.S373fs*>195; 7:150372350-150372350	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1109delC; p.S373fs*>195; 7:150372350-150372350	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.681C>T; p.P227P; 7:150371922-150371922	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.67C>T; p.P23S; 7:150371308-150371308	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.681C>T; p.P227P; 7:150371922-150371922	breast	carcinoma	Substitution - coding silent
c.1340C>A; p.A447E; 7:150372581-150372581	pancreas	carcinoma	Substitution - Missense
c.767G>T; p.R256L; 7:150372008-150372008	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1378G>A; p.V460M; 7:150372619-150372619	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1530G>A; p.T510T; 7:150372771-150372771	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.917A>G; p.N306S; 7:150372158-150372158	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1623C>T; p.G541G; 7:150372864-150372864	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.275G>A; p.R92H; 7:150371516-150371516	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1447G>A; p.G483S; 7:150372688-150372688	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1447G>A; p.G483S; 7:150372688-150372688	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1442A>G; p.H481R; 7:150372683-150372683	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.828G>T; p.K276N; 7:150372069-150372069	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.716C>T; p.A239V; 7:150371957-150371957	pancreas	NS	Substitution - Missense
c.716C>T; p.A239V; 7:150371957-150371957	pancreas	carcinoma	Substitution - Missense
c.462C>T; p.F154F; 7:150371703-150371703	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1366G>A; p.D456N; 7:150372607-150372607	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1366G>A; p.D456N; 7:150372607-150372607	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1364C>T; p.P455L; 7:150372605-150372605	skin; trunk	malignant_melanoma	Substitution - Missense
c.1404C>T; p.F468F; 7:150372645-150372645	oesophagus	carcinoma	Substitution - coding silent
c.451G>A; p.E151K; 7:150371692-150371692	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1277_1278CC>TT; p.S426F; 7:150372518-150372519	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.814C>T; p.R272C; 7:150372055-150372055	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1561G>A; p.D521N; 7:150372802-150372802	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.972C>T; p.A324A; 7:150372213-150372213	skin	malignant_melanoma	Substitution - coding silent
c.109G>A; p.G37R; 7:150371350-150371350	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.20G>A; p.R7K; 7:150371261-150371261	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1282G>T; p.E428*; 7:150372523-150372523	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.41T>C; p.L14P; 7:150371282-150371282	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.41T>C; p.L14P; 7:150371282-150371282	breast	carcinoma	Substitution - Missense
c.1231A>G; p.N411D; 7:150372472-150372472	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1231A>G; p.N411D; 7:150372472-150372472	breast	carcinoma	Substitution - Missense
c.593T>G; p.V198G; 7:150371834-150371834	urinary_tract; bladder	carcinoma	Substitution - Missense
c.290C>T; p.A97V; 7:150371531-150371531	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.290C>T; p.A97V; 7:150371531-150371531	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.311G>A; p.R104H; 7:150371552-150371552	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.744G>A; p.K248K; 7:150371985-150371985	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1104C>T; p.I368I; 7:150372345-150372345	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.886G>C; p.E296Q; 7:150372127-150372127	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1326G>T; p.Q442H; 7:150372567-150372567	bone	osteosarcoma	Substitution - Missense
c.525G>A; p.R175R; 7:150371766-150371766	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1248G>A; p.T416T; 7:150372489-150372489	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1248G>A; p.T416T; 7:150372489-150372489	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1248G>A; p.T416T; 7:150372489-150372489	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1224C>T; p.C408C; 7:150372465-150372465	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.769G>T; p.V257L; 7:150372010-150372010	prostate	carcinoma	Substitution - Missense
c.862G>T; p.G288C; 7:150372103-150372103	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1333C>T; p.H445Y; 7:150372574-150372574	skin	malignant_melanoma	Substitution - Missense
c.847C>T; p.R283W; 7:150372088-150372088	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.207G>A; p.W69*; 7:150371448-150371448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1460A>T; p.Y487F; 7:150372701-150372701	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1460A>G; p.Y487C; 7:150372701-150372701	liver	carcinoma	Substitution - Missense
c.904C>T; p.R302W; 7:150372145-150372145	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1460A>G; p.Y487C; 7:150372701-150372701	liver	carcinoma	Substitution - Missense
c.1662C>T; p.D554D; 7:150372903-150372903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1108_1109insC; p.S373fs*>196; 7:150372349-150372350	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1108_1109insC; p.S373fs*>196; 7:150372349-150372350	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.662C>T; p.A221V; 7:150371903-150371903	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1236C>A; p.F412L; 7:150372477-150372477	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1476C>T; p.C492C; 7:150372717-150372717	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.670_671insC; p.R226fs*51; 7:150371911-150371912	liver	carcinoma	Insertion - Frameshift
c.397C>T; p.L133L; 7:150371638-150371638	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.129G>A; p.T43T; 7:150371370-150371370	breast	carcinoma	Substitution - coding silent
c.1003G>A; p.G335S; 7:150372244-150372244	liver	carcinoma	Substitution - Missense
c.1003G>A; p.G335S; 7:150372244-150372244	liver	carcinoma	Substitution - Missense
c.1663G>A; p.E555K; 7:150372904-150372904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.490C>A; p.L164M; 7:150371731-150371731	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1167C>T; p.F389F; 7:150372408-150372408	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1466G>A; p.C489Y; 7:150372707-150372707	breast	carcinoma	Substitution - Missense
c.1327G>T; p.G443C; 7:150372568-150372568	bone	osteosarcoma	Substitution - Missense
c.1466G>T; p.C489F; 7:150372707-150372707	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1466G>T; p.C489F; 7:150372707-150372707	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1524C>T; p.I508I; 7:150372765-150372765	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.902T>C; p.F301S; 7:150372143-150372143	pancreas	carcinoma	Substitution - Missense
c.758C>T; p.A253V; 7:150371999-150371999	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1031C>G; p.T344S; 7:150372272-150372272	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.603T>C; p.A201A; 7:150371844-150371844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.603T>C; p.A201A; 7:150371844-150371844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.603T>C; p.A201A; 7:150371844-150371844	breast	carcinoma	Substitution - coding silent
c.603T>C; p.A201A; 7:150371844-150371844	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.603T>C; p.A201A; 7:150371844-150371844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1512G>A; p.S504S; 7:150372753-150372753	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation