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	55120
Symbol	FANCL
Synonymous	FAAP43\|PHF9\|POG
Full name	Fanconi anemia, complementation group L
Gene description	E3 ubiquitin-protein ligase FANCL\|PHD finger protein 9\|fanconi anemia group L protein\|fanconi anemia-associated polypeptide of 43 kDa
Cytoband	2p16.1
Gene type	protein-coding
Synonymous	MIM:608111; HGNC:HGNC:20748; Ensembl:ENSG00000115392; HPRD:06997; Vega:OTTHUMG00000129349

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.203G>A; p.R68Q; 2:58229827-58229827	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.203G>A; p.R68Q; 2:58229827-58229827	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.313C>T; p.P105S; 2:58222003-58222003	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.836G>A; p.S279N; 2:58162933-58162933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.500T>C; p.V167A; 2:58198634-58198634	liver	carcinoma	Substitution - Missense
c.680G>T; p.R227I; 2:58165735-58165735	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.272T>A; p.L91*; 2:58226729-58226729	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.372T>G; p.D124E; 2:58221944-58221944	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.621C>T; p.I207I; 2:58165794-58165794	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.319C>T; p.P107S; 2:58221997-58221997	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1124A>G; p.H375R; 2:58159769-58159769	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.895G>A; p.E299K; 2:58162874-58162874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.661C>T; p.R221W; 2:58165754-58165754	NS	malignant_melanoma	Substitution - Missense
c.661C>T; p.R221W; 2:58165754-58165754	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.661C>T; p.R221W; 2:58165754-58165754	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.575C>G; p.A192G; 2:58165840-58165840	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.949G>A; p.G317S; 2:58161593-58161593	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.465G>A; p.K155K; 2:58204136-58204136	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.472-2A>G; p.?; 2:58198664-58198664	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.213A>T; p.Q71H; 2:58229817-58229817	breast	carcinoma	Substitution - Missense
c.461T>C; p.L154S; 2:58204140-58204140	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.329T>C; p.F110S; 2:58221987-58221987	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.822-7C>T; p.?; 2:58162954-58162954	breast	carcinoma	Unknown
c.1100C>T; p.T367I; 2:58159793-58159793	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.276A>T; p.E92D; 2:58222040-58222040	liver	carcinoma	Substitution - Missense
c.812T>C; p.I271T; 2:58163038-58163038	ovary	other; neoplasm	Substitution - Missense
c.914T>C; p.M305T; 2:58161628-58161628	liver	carcinoma	Substitution - Missense
c.914T>C; p.M305T; 2:58161628-58161628	liver	carcinoma	Substitution - Missense
c.812T>C; p.I271T; 2:58163038-58163038	ovary	other; neoplasm	Substitution - Missense
c.328T>C; p.F110L; 2:58221988-58221988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.222G>A; p.M74I; 2:58226779-58226779	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.297A>C; p.Q99H; 2:58222019-58222019	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.80G>T; p.G27V; 2:58241234-58241234	oesophagus	carcinoma	Substitution - Missense
c.621C>A; p.I207I; 2:58165794-58165794	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1049A>T; p.Q350L; 2:58160151-58160151	liver	carcinoma	Substitution - Missense
c.137T>C; p.L46S; 2:58232072-58232072	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.156-1G>C; p.?; 2:58229875-58229875	breast	carcinoma	Unknown
c.981T>C; p.S327S; 2:58161561-58161561	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1116A>G; p.G372G; 2:58159777-58159777	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1011C>T; p.C337C; 2:58161531-58161531	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.501G>T; p.V167V; 2:58198633-58198633	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.649G>A; p.E217K; 2:58165766-58165766	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.649G>A; p.E217K; 2:58165766-58165766	urinary_tract; bladder	carcinoma	Substitution - Missense
c.29G>A; p.R10H; 2:58241285-58241285	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.951T>C; p.G317G; 2:58161591-58161591	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.103G>T; p.D35Y; 2:58232106-58232106	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.622G>A; p.D208N; 2:58165793-58165793	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.676C>T; p.R226C; 2:58165739-58165739	pancreas	carcinoma	Substitution - Missense
c.156-7A>G; p.?; 2:58229881-58229881	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.471G>A; p.K157K; 2:58204130-58204130	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.471G>A; p.K157K; 2:58204130-58204130	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.151G>A; p.A51T; 2:58232058-58232058	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1108delA; p.M370fs*>6; 2:58159785-58159785	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1108delA; p.M370fs*>6; 2:58159785-58159785	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.912T>C; p.T304T; 2:58161630-58161630	liver	carcinoma	Substitution - coding silent
c.912T>C; p.T304T; 2:58161630-58161630	liver	carcinoma	Substitution - coding silent
c.432T>C; p.S144S; 2:58204169-58204169	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.934G>C; p.A312P; 2:58161608-58161608	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.445T>G; p.L149V; 2:58204156-58204156	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1099A>C; p.T367P; 2:58159794-58159794	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.330C>T; p.F110F; 2:58221986-58221986	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1014A>G; p.L338L; 2:58161528-58161528	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.600C>T; p.F200F; 2:58165815-58165815	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.789G>A; p.L263L; 2:58163061-58163061	skin	malignant_melanoma	Substitution - coding silent
c.256G>T; p.E86*; 2:58226745-58226745	skin	malignant_melanoma	Substitution - Nonsense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation