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FANCL (Fanconi anemia, complementation group L)

Identity

Other namesFAAP43
PHF9
POG
HGNC (Hugo) FANCL
LocusID (NCBI) 55120
Location 2p16.1
Location_base_pair Starts at 58386378 and ends at 58468515 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)FANCL   20748
Cards
Entrez_Gene (NCBI)FANCL  55120  Fanconi anemia, complementation group L
GeneCards (Weizmann)FANCL
Ensembl hg19 (Hinxton)ENSG00000115392 [Gene_View]  chr2:58386378-58468515 [Contig_View]  FANCL [Vega]
Ensembl hg38 (Hinxton)ENSG00000115392 [Gene_View]  chr2:58386378-58468515 [Contig_View]  FANCL [Vega]
ICGC DataPortalENSG00000115392
cBioPortalFANCL
AceView (NCBI)FANCL
Genatlas (Paris)FANCL
WikiGenes55120
SOURCE (Princeton)FANCL
Genomic and cartography
GoldenPath hg19 (UCSC)FANCL  -     chr2:58386378-58468515 -  2p16.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FANCL  -     2p16.1   [Description]    (hg38-Dec_2013)
EnsemblFANCL - 2p16.1 [CytoView hg19]  FANCL - 2p16.1 [CytoView hg38]
Mapping of homologs : NCBIFANCL [Mapview hg19]  FANCL [Mapview hg38]
OMIM608111   614083   
Gene and transcription
Genbank (Entrez)AK001197 AK225147 AK297736 AK309671 AL036481
RefSeq transcript (Entrez)NM_001114636 NM_018062
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_007418 NT_022184 NW_001838769 NW_004929300
Consensus coding sequences : CCDS (NCBI)FANCL
Cluster EST : UnigeneHs.631890 [ NCBI ]
CGAP (NCI)Hs.631890
Alternative Splicing : Fast-db (Paris)GSHG0017638
Alternative Splicing GalleryENSG00000115392
Gene ExpressionFANCL [ NCBI-GEO ]     FANCL [ SEEK ]   FANCL [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NW38 (Uniprot)
NextProtQ9NW38  [Medical]
With graphics : InterProQ9NW38
Splice isoforms : SwissVarQ9NW38 (Swissvar)
Catalytic activity : Enzyme6.3.2.- [ Enzyme-Expasy ]   6.3.2.-6.3.2.- [ IntEnz-EBI ]   6.3.2.- [ BRENDA ]   6.3.2.- [ KEGG ]   
Domains : Interpro (EBI)Fancl    FancL_WD-rpt_cont_dom    Znf_RING    Znf_RING/FYVE/PHD   
Related proteins : CluSTrQ9NW38
Domain families : Pfam (Sanger)WD-3 (PF09765)   
Domain families : Pfam (NCBI)pfam09765   
Domain families : Smart (EMBL)RING (SM00184)  
DMDM Disease mutations55120
Blocks (Seattle)Q9NW38
PDB (SRS)3ZQS    4CCG   
PDB (PDBSum)3ZQS    4CCG   
PDB (IMB)3ZQS    4CCG   
PDB (RSDB)3ZQS    4CCG   
Human Protein AtlasENSG00000115392
Peptide AtlasQ9NW38
HPRD06997
IPIIPI00018099   IPI00885015   IPI00894167   IPI00894304   IPI00894380   IPI00894516   IPI00892593   IPI00892731   
Protein Interaction databases
DIP (DOE-UCLA)Q9NW38
IntAct (EBI)Q9NW38
FunCoupENSG00000115392
BioGRIDFANCL
IntegromeDBFANCL
STRING (EMBL)FANCL
Ontologies - Pathways
QuickGOQ9NW38
Ontology : AmiGOubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  nuclear envelope  nucleoplasm  cytoplasm  DNA repair  DNA repair  protein monoubiquitination  cellular response to DNA damage stimulus  gamete generation  zinc ion binding  ligase activity  ubiquitin protein ligase binding  regulation of cell proliferation  Fanconi anaemia nuclear complex  
Ontology : EGO-EBIubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  nuclear envelope  nucleoplasm  cytoplasm  DNA repair  DNA repair  protein monoubiquitination  cellular response to DNA damage stimulus  gamete generation  zinc ion binding  ligase activity  ubiquitin protein ligase binding  regulation of cell proliferation  Fanconi anaemia nuclear complex  
Pathways : KEGGFanconi anemia pathway    Ubiquitin mediated proteolysis   
Protein Interaction DatabaseFANCL
DoCM (Curated mutations)FANCL
Wikipedia pathwaysFANCL
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerFANCL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FANCL
dbVarFANCL
ClinVarFANCL
1000_GenomesFANCL 
Exome Variant ServerFANCL
SNP (GeneSNP Utah)FANCL
SNP : HGBaseFANCL
Genetic variants : HAPMAPFANCL
Genomic VariantsFANCL  FANCL [DGVbeta]
Mutations
ICGC Data PortalENSG00000115392 
Somatic Mutations in Cancer : COSMICFANCL 
CONAN: Copy Number AnalysisFANCL 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)Fanconi anemia database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:58386378-58468515
Mutations and Diseases : HGMDFANCL
OMIM608111    614083   
MedgenFANCL
NextProtQ9NW38 [Medical]
GENETestsFANCL
Disease Genetic AssociationFANCL
Huge Navigator FANCL [HugePedia]  FANCL [HugeCancerGEM]
snp3D : Map Gene to Disease55120
DGIdb (Drug Gene Interaction db)FANCL
General knowledge
Homologs : HomoloGeneFANCL
Homology/Alignments : Family Browser (UCSC)FANCL
Phylogenetic Trees/Animal Genes : TreeFamFANCL
Chemical/Protein Interactions : CTD55120
Chemical/Pharm GKB GenePA134887656
Clinical trialFANCL
Cancer Resource (Charite)ENSG00000115392
Other databases
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
CoreMineFANCL
GoPubMedFANCL
iHOPFANCL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 21:31:55 CET 2014
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