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	3426
Symbol	CFI
Synonymous	AHUS3\|ARMD13\|C3BINA\|C3b-INA\|FI\|IF\|KAF
Full name	complement factor I
Gene description	C3B/C4B inactivator\|C3b-inactivator\|Konglutinogen-activating factor\|complement component I\|complement control protein factor I\|complement factor I heavy chain\|light chain of factor I
Cytoband	4q25
Gene type	protein-coding
Synonymous	MIM:217030; HGNC:HGNC:5394; Ensembl:ENSG00000205403; HPRD:01955; Vega:OTTHUMG00000161109

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1165C>T; p.R389C; 4:109746486-109746486	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1435G>A; p.E479K; 4:109742590-109742590	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1435G>A; p.E479K; 4:109742590-109742590	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.777C>T; p.C259C; 4:109760376-109760376	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1435G>A; p.E479K; 4:109742590-109742590	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1435G>A; p.E479K; 4:109742590-109742590	skin	malignant_melanoma	Substitution - Missense
c.1435G>A; p.E479K; 4:109742590-109742590	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.594T>C; p.F198F; 4:109761581-109761581	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1222G>A; p.V408I; 4:109746429-109746429	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1680C>T; p.T560T; 4:109740965-109740965	skin	malignant_melanoma	Substitution - coding silent
c.1215A>G; p.K405K; 4:109746436-109746436	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1426A>C; p.K476Q; 4:109746225-109746225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1006C>T; p.R336*; 4:109749537-109749537	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1006C>T; p.R336*; 4:109749537-109749537	skin	malignant_melanoma	Substitution - Nonsense
c.1006C>T; p.R336*; 4:109749537-109749537	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.435G>T; p.W145C; 4:109764584-109764584	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1240A>T; p.R414*; 4:109746411-109746411	thyroid	other; neoplasm	Substitution - Nonsense
c.746A>T; p.D249V; 4:109760549-109760549	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.940G>C; p.E314Q; 4:109752468-109752468	skin	malignant_melanoma	Substitution - Missense
c.862G>A; p.E288K; 4:109760291-109760291	skin	malignant_melanoma	Substitution - Missense
c.862G>A; p.E288K; 4:109760291-109760291	skin	malignant_melanoma	Substitution - Missense
c.917T>A; p.I306N; 4:109752491-109752491	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1596G>A; p.M532I; 4:109741049-109741049	skin	malignant_melanoma	Substitution - Missense
c.1305G>T; p.M435I; 4:109746346-109746346	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1548T>G; p.G516G; 4:109741097-109741097	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1423G>T; p.E475*; 4:109746228-109746228	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1201C>A; p.H401N; 4:109746450-109746450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1201C>A; p.H401N; 4:109746450-109746450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1662G>A; p.E554E; 4:109740983-109740983	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1201C>A; p.H401N; 4:109746450-109746450	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1217G>A; p.R406H; 4:109746434-109746434	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1559C>T; p.A520V; 4:109741086-109741086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1217G>A; p.R406H; 4:109746434-109746434	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1497C>T; p.Y499Y; 4:109742528-109742528	large_intestine; colon	NS	Substitution - coding silent
c.1631T>C; p.V544A; 4:109741014-109741014	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.111delA; p.K37fs*65; 4:109766771-109766771	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1171C>T; p.Q391*; 4:109746480-109746480	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.127T>A; p.C43S; 4:109766755-109766755	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.524C>T; p.S175F; 4:109761651-109761651	skin	malignant_melanoma	Substitution - Missense
c.1569G>A; p.G523G; 4:109741076-109741076	skin	malignant_melanoma	Substitution - coding silent
c.907G>T; p.E303*; 4:109752501-109752501	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.445G>A; p.E149K; 4:109764574-109764574	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.631G>T; p.D211Y; 4:109761544-109761544	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1738C>T; p.Q580*; 4:109740907-109740907	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.767G>A; p.C256Y; 4:109760528-109760528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.432_433delCT; p.S144fs*12; 4:109764586-109764587	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1552A>C; p.I518L; 4:109741093-109741093	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.14A>G; p.H5R; 4:109801958-109801958	liver	carcinoma	Substitution - Missense
c.309C>T; p.N103N; 4:109766573-109766573	pancreas	carcinoma	Substitution - coding silent
c.333G>C; p.K111N; 4:109764686-109764686	breast	carcinoma	Substitution - Missense
c.309C>T; p.N103N; 4:109766573-109766573	pancreas	carcinoma	Substitution - coding silent
c.1006C>G; p.R336G; 4:109749537-109749537	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.14A>G; p.H5R; 4:109801958-109801958	liver	carcinoma	Substitution - Missense
c.714G>A; p.M238I; 4:109760581-109760581	skin	malignant_melanoma	Substitution - Missense
c.959C>T; p.S320L; 4:109749584-109749584	skin	malignant_melanoma	Substitution - Missense
c.959C>T; p.S320L; 4:109749584-109749584	skin; trunk	malignant_melanoma	Substitution - Missense
c.1034G>A; p.R345Q; 4:109749509-109749509	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.123C>T; p.L41L; 4:109766759-109766759	skin	malignant_melanoma	Substitution - coding silent
c.310G>A; p.G104R; 4:109766572-109766572	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.915A>C; p.E305D; 4:109752493-109752493	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.575G>C; p.S192T; 4:109761600-109761600	pancreas	carcinoma	Substitution - Missense
c.976T>G; p.S326A; 4:109749567-109749567	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1375T>C; p.Y459H; 4:109746276-109746276	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.250A>G; p.T84A; 4:109766632-109766632	skin	malignant_melanoma	Substitution - Missense
c.1383C>T; p.F461F; 4:109746268-109746268	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.58G>C; p.V20L; 4:109766824-109766824	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.412A>C; p.M138L; 4:109764607-109764607	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.126C>T; p.S42S; 4:109766756-109766756	skin	malignant_melanoma	Substitution - coding silent
c.1290C>T; p.I430I; 4:109746361-109746361	skin	malignant_melanoma	Substitution - coding silent
c.1517A>C; p.K506T; 4:109742508-109742508	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.678C>A; p.F226L; 4:109760617-109760617	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.804G>A; p.S268S; 4:109760349-109760349	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.938C>T; p.A313V; 4:109752470-109752470	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.420A>C; p.I140I; 4:109764599-109764599	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.995G>T; p.R332I; 4:109749548-109749548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1027G>A; p.G343R; 4:109749516-109749516	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.673G>A; p.D225N; 4:109760622-109760622	oesophagus	carcinoma	Substitution - Missense
c.1651G>A; p.G551R; 4:109740994-109740994	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1278C>T; p.Y426Y; 4:109746373-109746373	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.168G>A; p.E56E; 4:109766714-109766714	skin	malignant_melanoma	Substitution - coding silent
c.1692T>C; p.N564N; 4:109740953-109740953	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1646_1647insA; p.N549fs*19; 4:109740998-109740999	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1633A>C; p.S545R; 4:109741012-109741012	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1421G>A; p.R474Q; 4:109746230-109746230	skin	malignant_melanoma	Substitution - Missense
c.324C>T; p.A108A; 4:109766558-109766558	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.352C>A; p.H118N; 4:109764667-109764667	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.82C>T; p.L28L; 4:109766800-109766800	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.449C>G; p.A150G; 4:109764570-109764570	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.757G>T; p.E253*; 4:109760538-109760538	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1342C>T; p.R448C; 4:109746309-109746309	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.881C>T; p.A294V; 4:109760272-109760272	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.361A>G; p.T121A; 4:109764658-109764658	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1033C>T; p.R345*; 4:109749510-109749510	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1033C>T; p.R345*; 4:109749510-109749510	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1045-2A>T; p.?; 4:109749323-109749323	lung	carcinoma; adenocarcinoma	Unknown
c.49T>G; p.F17V; 4:109801923-109801923	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1601C>T; p.A534V; 4:109741044-109741044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.752G>A; p.S251N; 4:109760543-109760543	genital_tract; extragonadal	germ_cell_tumour; yolk_sac_tumour	Substitution - Missense
c.1016G>A; p.R339Q; 4:109749527-109749527	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.678C>T; p.F226F; 4:109760617-109760617	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.1016G>A; p.R339Q; 4:109749527-109749527	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1404C>T; p.I468I; 4:109746247-109746247	skin	malignant_melanoma	Substitution - coding silent
c.1741T>A; p.Y581N; 4:109740904-109740904	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1628T>C; p.V543A; 4:109741017-109741017	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1466T>C; p.V489A; 4:109742559-109742559	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.454G>A; p.V152M; 4:109764565-109764565	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1434C>T; p.N478N; 4:109742591-109742591	skin	malignant_melanoma	Substitution - coding silent
c.1640G>A; p.G547E; 4:109741005-109741005	skin	malignant_melanoma	Substitution - Missense
c.1352C>A; p.P451H; 4:109746299-109746299	oesophagus	carcinoma	Substitution - Missense
c.1434C>T; p.N478N; 4:109742591-109742591	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.148C>T; p.P50S; 4:109766734-109766734	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1740G>A; p.Q580Q; 4:109740905-109740905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.973C>T; p.L325L; 4:109749570-109749570	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.319A>T; p.T107S; 4:109766563-109766563	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1315G>A; p.G439R; 4:109746336-109746336	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1583C>T; p.P528L; 4:109741062-109741062	skin	malignant_melanoma	Substitution - Missense
c.1216C>T; p.R406C; 4:109746435-109746435	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1216C>T; p.R406C; 4:109746435-109746435	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1564A>T; p.K522*; 4:109741081-109741081	skin	malignant_melanoma	Substitution - Nonsense
c.696G>A; p.G232G; 4:109760599-109760599	skin	malignant_melanoma	Substitution - coding silent
c.1752A>C; p.*584Y; 4:109740893-109740893	large_intestine; rectum	carcinoma; adenocarcinoma	Nonstop extension
c.429C>T; p.S143S; 4:109764590-109764590	large_intestine; colon	NS	Substitution - coding silent
c.658+2T>G; p.?; 4:109761515-109761515	skin	malignant_melanoma	Unknown
c.817C>T; p.P273S; 4:109760336-109760336	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.807T>G; p.G269G; 4:109760346-109760346	breast	carcinoma	Substitution - coding silent
c.560G>A; p.R187Q; 4:109761615-109761615	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1418G>A; p.G473E; 4:109746233-109746233	skin	malignant_melanoma	Substitution - Missense
c.1248T>A; p.I416I; 4:109746403-109746403	ovary	other; neoplasm	Substitution - coding silent
c.199T>C; p.C67R; 4:109766683-109766683	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1420C>T; p.R474*; 4:109746231-109746231	central_nervous_system; thalamus	glioma; oligoastrocytoma_Grade_II	Substitution - Nonsense
c.1420C>T; p.R474*; 4:109746231-109746231	pancreas	carcinoma	Substitution - Nonsense
c.1637G>T; p.W546L; 4:109741008-109741008	skin	malignant_melanoma	Substitution - Missense
c.1116C>T; p.G372G; 4:109749250-109749250	skin	malignant_melanoma	Substitution - coding silent
c.627C>T; p.F209F; 4:109761548-109761548	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1101A>G; p.G367G; 4:109749265-109749265	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.627C>T; p.F209F; 4:109761548-109761548	skin	malignant_melanoma	Substitution - coding silent
c.627C>T; p.F209F; 4:109761548-109761548	skin	malignant_melanoma	Substitution - coding silent
c.627C>T; p.F209F; 4:109761548-109761548	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.196C>T; p.Q66*; 4:109766686-109766686	skin	malignant_melanoma	Substitution - Nonsense
c.1039C>A; p.Q347K; 4:109749504-109749504	skin	malignant_melanoma	Substitution - Missense
c.1497C>A; p.Y499*; 4:109742528-109742528	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1409C>T; p.S470F; 4:109746242-109746242	skin	malignant_melanoma	Substitution - Missense
c.159A>G; p.R53R; 4:109766723-109766723	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.248C>T; p.P83L; 4:109766634-109766634	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1046G>A; p.G349E; 4:109749320-109749320	skin	malignant_melanoma	Substitution - Missense
c.563G>A; p.G188E; 4:109761612-109761612	skin	malignant_melanoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation