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NEFL (neurofilament, light polypeptide)

Identity

Other namesCMT1F
CMT2E
NF-L
NF68
NFL
PPP1R110
HGNC (Hugo) NEFL
LocusID (NCBI) 4747
Atlas_Id 52777
Location 8p21.2  [Link to chromosome band 8p21]
Location_base_pair Starts at 24808469 and ends at 24814383 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATP5A1 (18q21.1) / NEFL (8p21.2)HSPA9 (5q31.2) / NEFL (8p21.2)NEFL (8p21.2) / CACNA2D3 (3p21.1)

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)NEFL   7739
Cards
Entrez_Gene (NCBI)NEFL  4747  neurofilament, light polypeptide
AliasesCMT1F; CMT2E; NF-L; NF68; 
NFL; PPP1R110
GeneCards (Weizmann)NEFL
Ensembl hg19 (Hinxton)ENSG00000277586 [Gene_View]  chr8:24808469-24814383 [Contig_View]  NEFL [Vega]
Ensembl hg38 (Hinxton)ENSG00000277586 [Gene_View]  chr8:24808469-24814383 [Contig_View]  NEFL [Vega]
ICGC DataPortalENSG00000277586
TCGA cBioPortalNEFL
AceView (NCBI)NEFL
Genatlas (Paris)NEFL
WikiGenes4747
SOURCE (Princeton)NEFL
Genomic and cartography
GoldenPath hg19 (UCSC)NEFL  -     chr8:24808469-24814383 -  8p21.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NEFL  -     8p21.2   [Description]    (hg38-Dec_2013)
EnsemblNEFL - 8p21.2 [CytoView hg19]  NEFL - 8p21.2 [CytoView hg38]
Mapping of homologs : NCBINEFL [Mapview hg19]  NEFL [Mapview hg38]
OMIM162280   607684   607734   
Gene and transcription
Genbank (Entrez)AK057731 AK075003 AK127430 AK225975 AK299095
RefSeq transcript (Entrez)NM_006158
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_008492 NT_167187 NW_004929337
Consensus coding sequences : CCDS (NCBI)NEFL
Cluster EST : UnigeneHs.521461 [ NCBI ]
CGAP (NCI)Hs.521461
Alternative Splicing GalleryENSG00000277586
Gene ExpressionNEFL [ NCBI-GEO ]   NEFL [ EBI - ARRAY_EXPRESS ]   NEFL [ SEEK ]   NEFL [ MEM ]
Gene Expression Viewer (FireBrowse)NEFL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4747
GTEX Portal (Tissue expression)NEFL
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07196 (Uniprot)
NextProtP07196  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP07196
Splice isoforms : SwissVarP07196 (Swissvar)
PhosPhoSitePlusP07196
Domaine pattern : Prosite (Expaxy)IF (PS00226)   
Domains : Interpro (EBI)IF    Intermed_filament_DNA-bd    Intermediate_filament_CS    NF-L   
Domain families : Pfam (Sanger)Filament (PF00038)    Filament_head (PF04732)   
Domain families : Pfam (NCBI)pfam00038    pfam04732   
DMDM Disease mutations4747
Blocks (Seattle)NEFL
SuperfamilyP07196
Human Protein AtlasENSG00000277586
Peptide AtlasP07196
HPRD01206
IPIIPI00237671   IPI00953284   
Protein Interaction databases
DIP (DOE-UCLA)P07196
IntAct (EBI)P07196
FunCoupENSG00000277586
BioGRIDNEFL
STRING (EMBL)NEFL
ZODIACNEFL
Ontologies - Pathways
QuickGOP07196
Ontology : AmiGOMAPK cascade  microtubule cytoskeleton organization  Ras guanyl-nucleotide exchange factor activity  structural constituent of cytoskeleton  protein binding  cytoplasm  cytosol  neurofilament  protein C-terminus binding  anterograde axonal transport  retrograde axonal transport  response to toxic substance  peripheral nervous system axon regeneration  axon transport of mitochondrion  protein domain specific binding  spinal cord development  hippocampus development  cerebral cortex development  axon  growth cone  protein binding, bridging  regulation of axon diameter  TSC1-TSC2 complex  neurofilament bundle assembly  neurofilament bundle assembly  locomotion  identical protein binding  myelin sheath  phospholipase binding  response to peptide hormone  negative regulation of neuron apoptotic process  positive regulation of GTPase activity  intermediate filament polymerization or depolymerization  intermediate filament organization  protein heterodimerization activity  neuron projection morphogenesis  positive regulation of axonogenesis  neuromuscular process controlling balance  protein polymerization  response to corticosterone  response to sodium arsenite  response to acrylamide  axon cytoplasm  
Ontology : EGO-EBIMAPK cascade  microtubule cytoskeleton organization  Ras guanyl-nucleotide exchange factor activity  structural constituent of cytoskeleton  protein binding  cytoplasm  cytosol  neurofilament  protein C-terminus binding  anterograde axonal transport  retrograde axonal transport  response to toxic substance  peripheral nervous system axon regeneration  axon transport of mitochondrion  protein domain specific binding  spinal cord development  hippocampus development  cerebral cortex development  axon  growth cone  protein binding, bridging  regulation of axon diameter  TSC1-TSC2 complex  neurofilament bundle assembly  neurofilament bundle assembly  locomotion  identical protein binding  myelin sheath  phospholipase binding  response to peptide hormone  negative regulation of neuron apoptotic process  positive regulation of GTPase activity  intermediate filament polymerization or depolymerization  intermediate filament organization  protein heterodimerization activity  neuron projection morphogenesis  positive regulation of axonogenesis  neuromuscular process controlling balance  protein polymerization  response to corticosterone  response to sodium arsenite  response to acrylamide  axon cytoplasm  
Pathways : KEGGAmyotrophic lateral sclerosis (ALS)   
NDEx Network
Atlas of Cancer Signalling NetworkNEFL
Wikipedia pathwaysNEFL
Orthology - Evolution
OrthoDB4747
GeneTree (enSembl)ENSG00000277586
Phylogenetic Trees/Animal Genes : TreeFamNEFL
Homologs : HomoloGeneNEFL
Homology/Alignments : Family Browser (UCSC)NEFL
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerNEFL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NEFL
dbVarNEFL
ClinVarNEFL
1000_GenomesNEFL 
Exome Variant ServerNEFL
ExAC (Exome Aggregation Consortium)NEFL (select the gene name)
Genetic variants : HAPMAP4747
Genomic Variants (DGV)NEFL [DGVbeta]
Mutations
ICGC Data PortalNEFL 
TCGA Data PortalNEFL 
Broad Tumor PortalNEFL
OASIS PortalNEFL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNEFL 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch NEFL
DgiDB (Drug Gene Interaction Database)NEFL
DoCM (Curated mutations)NEFL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NEFL (select a term)
intoGenNEFL
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)8:24808469-24814383  ENSG00000277586
CONAN: Copy Number AnalysisNEFL 
Mutations and Diseases : HGMDNEFL
OMIM162280    607684    607734   
MedgenNEFL
Genetic Testing Registry NEFL
NextProtP07196 [Medical]
TSGene4747
GENETestsNEFL
Huge Navigator NEFL [HugePedia]
snp3D : Map Gene to Disease4747
BioCentury BCIQNEFL
ClinGenNEFL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4747
Chemical/Pharm GKB GenePA31542
Clinical trialNEFL
Miscellaneous
canSAR (ICR)NEFL (select the gene name)
Probes
Litterature
PubMed127 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNEFL
EVEXNEFL
GoPubMedNEFL
iHOPNEFL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Aug 9 19:06:12 CEST 2016

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