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FANCL (Fanconi anemia complementation group L)

Identity

Other namesFAAP43
PHF9
POG
HGNC (Hugo) FANCL
LocusID (NCBI) 55120
Atlas_Id 40529
Location 2p16.1
Location_base_pair Starts at 58386378 and ends at 58468515 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
FANCL (2p16.1) / FANCL (2p16.1)FANCL (2p16.1) / TSPAN12 (7q31.31)VRK2 (2p16.1) / FANCL (2p16.1)

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

 


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 2 ]
  Fanconi anaemia Familial Myeloproliferative Disorders

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
TCGA 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]
OMIM189960   608111   614083   
Gene and transcription
Genbank (Entrez)AK001197 AK225147 AK297736 AK309671 AL036481
RefSeq transcript (Entrez)NM_001114636 NM_018062
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_007418 NT_022184 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 [ EBI - ARRAY_EXPRESS ]   FANCL [ SEEK ]   FANCL [ MEM ]
Gene Expression Viewer (FireBrowse)FANCL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)55120
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NW38 (Uniprot)
NextProtQ9NW38  [Sequence]  [Exons]  [Medical]  [Publications]
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 ]   
PhosPhoSitePlusQ9NW38
Domains : Interpro (EBI)Fancl    FANCL_C    FancL_WD-rpt_cont_dom    Znf_RING    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)FANCL_C (PF11793)    WD-3 (PF09765)   
Domain families : Pfam (NCBI)pfam11793    pfam09765   
Domain families : Smart (EMBL)RING (SM00184)  
DMDM Disease mutations55120
Blocks (Seattle)FANCL
PDB (SRS)3ZQS    4CCG   
PDB (PDBSum)3ZQS    4CCG   
PDB (IMB)3ZQS    4CCG   
PDB (RSDB)3ZQS    4CCG   
Structural Biology KnowledgeBase3ZQS    4CCG   
SCOP (Structural Classification of Proteins)3ZQS    4CCG   
CATH (Classification of proteins structures)3ZQS    4CCG   
SuperfamilyQ9NW38
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
STRING (EMBL)FANCL
ZODIACFANCL
Ontologies - Pathways
QuickGOQ9NW38
Ontology : AmiGOpositive regulation of defense response to virus by host  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  nuclear envelope  nucleoplasm  cytoplasm  DNA repair  protein monoubiquitination  cellular response to DNA damage stimulus  gamete generation  ligase activity  ubiquitin protein ligase binding  interstrand cross-link repair  regulation of cell proliferation  Fanconi anaemia nuclear complex  metal ion binding  ubiquitin protein ligase activity  xenophagy  
Ontology : EGO-EBIpositive regulation of defense response to virus by host  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  nuclear envelope  nucleoplasm  cytoplasm  DNA repair  protein monoubiquitination  cellular response to DNA damage stimulus  gamete generation  ligase activity  ubiquitin protein ligase binding  interstrand cross-link repair  regulation of cell proliferation  Fanconi anaemia nuclear complex  metal ion binding  ubiquitin protein ligase activity  xenophagy  
Pathways : KEGGFanconi anemia pathway    Ubiquitin mediated proteolysis   
NDEx Network
Atlas of Cancer Signalling NetworkFANCL
Wikipedia pathwaysFANCL
Orthology - Evolution
OrthoDB55120
GeneTree (enSembl)ENSG00000115392
Phylogenetic Trees/Animal Genes : TreeFamFANCL
Homologs : HomoloGeneFANCL
Homology/Alignments : Family Browser (UCSC)FANCL
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerFANCL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FANCL
dbVarFANCL
ClinVarFANCL
1000_GenomesFANCL 
Exome Variant ServerFANCL
ExAC (Exome Aggregation Consortium)FANCL (select the gene name)
SNP (GeneSNP Utah)FANCL
SNP : HGBaseFANCL
Genetic variants : HAPMAPFANCL
Genomic Variants (DGV)FANCL [DGVbeta]
Mutations
ICGC Data PortalFANCL 
TCGA Data PortalFANCL 
Broad Tumor PortalFANCL
OASIS PortalFANCL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFANCL 
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
BioMutasearch FANCL
DgiDB (Drug Gene Interaction Database)FANCL
DoCM (Curated mutations)FANCL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FANCL (select a term)
intoGenFANCL
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:58386378-58468515
CONAN: Copy Number AnalysisFANCL 
Mutations and Diseases : HGMDFANCL
OMIM189960    608111    614083   
MedgenFANCL
Genetic Testing Registry FANCL
NextProtQ9NW38 [Medical]
TSGene55120
GENETestsFANCL
Huge Navigator FANCL [HugePedia]  FANCL [HugeCancerGEM]
snp3D : Map Gene to Disease55120
BioCentury BCIQFANCL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55120
Chemical/Pharm GKB GenePA134887656
Clinical trialFANCL
Miscellaneous
canSAR (ICR)FANCL (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Apr 16 17:44:32 CEST 2016

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