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NFASC (neurofascin)

Identity

Alias_namesneurofascin homolog (chicken)
Alias_symbol (synonym)NRCAML
KIAA0756
FLJ46866
NF
Other alias
HGNC (Hugo) NFASC
LocusID (NCBI) 23114
Atlas_Id 54499
Location 1q32.1  [Link to chromosome band 1q32]
Location_base_pair Starts at 204828654 and ends at 205022822 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP2B4 (1q32.1) / NFASC (1q32.1)ELOVL1 (1p34.2) / NFASC (1q32.1)NFASC (1q32.1) / BOLA2 (16p11.2)
NFASC (1q32.1) / DVL3 (3q27.1)NFASC (1q32.1) / LRRN2 (1q32.1)NFASC (1q32.1) / NTRK1 (1q23.1)
NFASC (1q32.1) / PPP1R12B (1q32.1)NFASC (1q32.1) / PRELP (1q32.1)NFASC (1q32.1) / RP5-862P8.2 ()
NFASC (1q32.1) / RTN3 (11q13.1)NFASC (1q32.1) / SOX13 (1q32.1)ZC3H18 (16q24.2) / NFASC (1q32.1)
ATP2B4 1q32.1 / NFASC 1q32.1NFASC 1q32.1 / LRRN2 1q32.1NFASC 1q32.1 / NTRK1 1q23.1
NFASC 1q32.1 / PPP1R12B 1q32.1NFASC 1q32.1 / PRELP 1q32.1NFASC 1q32.1 RP5-862P8.2
NFASC 1q32.1 / SOX13 1q32.1

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

 


External links

Nomenclature
HGNC (Hugo)NFASC   29866
Cards
Entrez_Gene (NCBI)NFASC  23114  neurofascin
AliasesNF; NRCAML
GeneCards (Weizmann)NFASC
Ensembl hg19 (Hinxton)ENSG00000163531 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163531 [Gene_View]  chr1:204828654-205022822 [Contig_View]  NFASC [Vega]
ICGC DataPortalENSG00000163531
TCGA cBioPortalNFASC
AceView (NCBI)NFASC
Genatlas (Paris)NFASC
WikiGenes23114
SOURCE (Princeton)NFASC
Genetics Home Reference (NIH)NFASC
Genomic and cartography
GoldenPath hg38 (UCSC)NFASC  -     chr1:204828654-205022822 +  1q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NFASC  -     1q32.1   [Description]    (hg19-Feb_2009)
EnsemblNFASC - 1q32.1 [CytoView hg19]  NFASC - 1q32.1 [CytoView hg38]
Mapping of homologs : NCBINFASC [Mapview hg19]  NFASC [Mapview hg38]
OMIM609145   
Gene and transcription
Genbank (Entrez)AA514945 AB018299 AB177861 AF054995 AK027553
RefSeq transcript (Entrez)NM_001005387 NM_001005388 NM_001005389 NM_001160331 NM_001160332 NM_001160333 NM_015090
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NFASC
Cluster EST : UnigeneHs.13349 [ NCBI ]
CGAP (NCI)Hs.13349
Alternative Splicing GalleryENSG00000163531
Gene ExpressionNFASC [ NCBI-GEO ]   NFASC [ EBI - ARRAY_EXPRESS ]   NFASC [ SEEK ]   NFASC [ MEM ]
Gene Expression Viewer (FireBrowse)NFASC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23114
GTEX Portal (Tissue expression)NFASC
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94856   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94856  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94856
Splice isoforms : SwissVarO94856
PhosPhoSitePlusO94856
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)FN3_dom    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2    Immunoglobulin    Neurofascin/L1/NrCAM_C    NFASC   
Domain families : Pfam (Sanger)Bravo_FIGEY (PF13882)    fn3 (PF00041)    I-set (PF07679)    ig (PF00047)   
Domain families : Pfam (NCBI)pfam13882    pfam00041    pfam07679    pfam00047   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)NFASC
DMDM Disease mutations23114
Blocks (Seattle)NFASC
PDB (SRS)3P3Y    3P40   
PDB (PDBSum)3P3Y    3P40   
PDB (IMB)3P3Y    3P40   
PDB (RSDB)3P3Y    3P40   
Structural Biology KnowledgeBase3P3Y    3P40   
SCOP (Structural Classification of Proteins)3P3Y    3P40   
CATH (Classification of proteins structures)3P3Y    3P40   
SuperfamilyO94856
Human Protein AtlasENSG00000163531
Peptide AtlasO94856
HPRD12372
IPIIPI00513705   IPI00655890   IPI00655858   IPI00477942   IPI00656129   IPI00394653   IPI00443574   IPI00394655   IPI00655702   IPI00384998   IPI00477765   IPI00470575   IPI00878394   IPI00909230   IPI01026036   IPI00513695   IPI01026061   IPI00983447   IPI00968028   IPI01012148   
Protein Interaction databases
DIP (DOE-UCLA)O94856
IntAct (EBI)O94856
FunCoupENSG00000163531
BioGRIDNFASC
STRING (EMBL)NFASC
ZODIACNFASC
Ontologies - Pathways
QuickGOO94856
Ontology : AmiGOprotein localization to paranode region of axon  protein binding  intracellular  plasma membrane  focal adhesion  axon guidance  peripheral nervous system development  integral component of membrane  transmission of nerve impulse  protein domain specific binding  paranodal junction assembly  paranodal junction  node of Ranvier  node of Ranvier  paranode region of axon  heterotypic cell-cell adhesion  myelination  axon initial segment  myelin sheath  neutrophil degranulation  clustering of voltage-gated sodium channels  synapse organization  extracellular exosome  protein localization to juxtaparanode region of axon  protein targeting to plasma membrane  protein binding involved in heterotypic cell-cell adhesion  Schwann cell microvillus  ficolin-1-rich granule membrane  
Ontology : EGO-EBIprotein localization to paranode region of axon  protein binding  intracellular  plasma membrane  focal adhesion  axon guidance  peripheral nervous system development  integral component of membrane  transmission of nerve impulse  protein domain specific binding  paranodal junction assembly  paranodal junction  node of Ranvier  node of Ranvier  paranode region of axon  heterotypic cell-cell adhesion  myelination  axon initial segment  myelin sheath  neutrophil degranulation  clustering of voltage-gated sodium channels  synapse organization  extracellular exosome  protein localization to juxtaparanode region of axon  protein targeting to plasma membrane  protein binding involved in heterotypic cell-cell adhesion  Schwann cell microvillus  ficolin-1-rich granule membrane  
Pathways : BIOCARTASynaptic Proteins at the Synaptic Junction [Genes]   
Pathways : KEGGCell adhesion molecules (CAMs)   
NDEx NetworkNFASC
Atlas of Cancer Signalling NetworkNFASC
Wikipedia pathwaysNFASC
Orthology - Evolution
OrthoDB23114
GeneTree (enSembl)ENSG00000163531
Phylogenetic Trees/Animal Genes : TreeFamNFASC
HOVERGENO94856
HOGENOMO94856
Homologs : HomoloGeneNFASC
Homology/Alignments : Family Browser (UCSC)NFASC
Gene fusions - Rearrangements
Fusion : MitelmanATP2B4/NFASC [1q32.1/1q32.1]  [t(1;1)(q32;q32)]  
Fusion : MitelmanNFASC/LRRN2 [1q32.1/1q32.1]  [t(1;1)(q32;q32)]  
Fusion : MitelmanNFASC/NTRK1 [1q32.1/1q23.1]  [t(1;1)(q23;q32)]  
Fusion : MitelmanNFASC/PPP1R12B [1q32.1/1q32.1]  [t(1;1)(q32;q32)]  
Fusion : MitelmanNFASC/PRELP [1q32.1/1q32.1]  [t(1;1)(q32;q32)]  
Fusion : MitelmanNFASC/RTN3 [1q32.1/11q13.1]  [t(1;11)(q32;q13)]  
Fusion : MitelmanNFASC/SOX13 [1q32.1/1q32.1]  [t(1;1)(q32;q32)]  
Fusion: TCGAATP2B4 1q32.1 NFASC 1q32.1 GBM
Fusion: TCGANFASC 1q32.1 LRRN2 1q32.1 GBM
Fusion: TCGANFASC 1q32.1 NTRK1 1q23.1 GBM
Fusion: TCGANFASC 1q32.1 PPP1R12B 1q32.1 LGG
Fusion: TCGANFASC 1q32.1 PRELP 1q32.1 GBM
Fusion: TCGANFASC 1q32.1 RP5-862P8.2 BRCA
Fusion: TCGANFASC 1q32.1 SOX13 1q32.1 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNFASC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NFASC
dbVarNFASC
ClinVarNFASC
1000_GenomesNFASC 
Exome Variant ServerNFASC
ExAC (Exome Aggregation Consortium)NFASC (select the gene name)
Genetic variants : HAPMAP23114
Genomic Variants (DGV)NFASC [DGVbeta]
DECIPHERNFASC [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNFASC 
Mutations
ICGC Data PortalNFASC 
TCGA Data PortalNFASC 
Broad Tumor PortalNFASC
OASIS PortalNFASC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNFASC  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNFASC
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
BioMutasearch NFASC
DgiDB (Drug Gene Interaction Database)NFASC
DoCM (Curated mutations)NFASC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NFASC (select a term)
intoGenNFASC
Cancer3DNFASC(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609145   
Orphanet
MedgenNFASC
Genetic Testing Registry NFASC
NextProtO94856 [Medical]
TSGene23114
GENETestsNFASC
Target ValidationNFASC
Huge Navigator NFASC [HugePedia]
snp3D : Map Gene to Disease23114
BioCentury BCIQNFASC
ClinGenNFASC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23114
Chemical/Pharm GKB GenePA128395771
Clinical trialNFASC
Miscellaneous
canSAR (ICR)NFASC (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNFASC
EVEXNFASC
GoPubMedNFASC
iHOPNFASC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:01:32 CEST 2017

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