Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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
Location_base_pair Starts at 24808469 and ends at 24814383 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)NEFL   7739
Cards
Entrez_Gene (NCBI)NEFL  4747  neurofilament, light polypeptide
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 : Fast-db (Paris)GSHG0029474
Alternative Splicing GalleryENSG00000277586
Gene ExpressionNEFL [ NCBI-GEO ]     NEFL [ SEEK ]   NEFL [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)4747
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
Human Protein AtlasENSG00000277586
Peptide AtlasP07196
HPRD01206
IPIIPI00237671   IPI00953284   
Protein Interaction databases
DIP (DOE-UCLA)P07196
IntAct (EBI)P07196
FunCoupENSG00000277586
BioGRIDNEFL
IntegromeDBNEFL
STRING (EMBL)NEFL
ZODIACNEFL
Ontologies - Pathways
QuickGOP07196
Ontology : AmiGOMAPK cascade  activation of MAPKK activity  microtubule cytoskeleton organization  structural constituent of cytoskeleton  protein binding  cytoplasm  cytosol  neurofilament  epidermal growth factor receptor signaling pathway  small GTPase mediated signal transduction  Ras protein signal transduction  synaptic transmission  axon guidance  protein C-terminus binding  anterograde axon cargo transport  retrograde axon cargo transport  insulin receptor signaling pathway  fibroblast growth factor receptor signaling pathway  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  Fc-epsilon receptor signaling pathway  identical protein binding  myelin sheath  phospholipase binding  negative regulation of neuron apoptotic process  innate immune response  intermediate filament polymerization or depolymerization  intermediate filament organization  protein heterodimerization activity  vascular endothelial growth factor receptor signaling pathway  neurotrophin TRK receptor signaling pathway  positive regulation of axonogenesis  neuromuscular process controlling balance  protein polymerization  response to corticosterone  response to sodium arsenite  response to acrylamide  
Ontology : EGO-EBIMAPK cascade  activation of MAPKK activity  microtubule cytoskeleton organization  structural constituent of cytoskeleton  protein binding  cytoplasm  cytosol  neurofilament  epidermal growth factor receptor signaling pathway  small GTPase mediated signal transduction  Ras protein signal transduction  synaptic transmission  axon guidance  protein C-terminus binding  anterograde axon cargo transport  retrograde axon cargo transport  insulin receptor signaling pathway  fibroblast growth factor receptor signaling pathway  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  Fc-epsilon receptor signaling pathway  identical protein binding  myelin sheath  phospholipase binding  negative regulation of neuron apoptotic process  innate immune response  intermediate filament polymerization or depolymerization  intermediate filament organization  protein heterodimerization activity  vascular endothelial growth factor receptor signaling pathway  neurotrophin TRK receptor signaling pathway  positive regulation of axonogenesis  neuromuscular process controlling balance  protein polymerization  response to corticosterone  response to sodium arsenite  response to acrylamide  
Pathways : KEGGAmyotrophic lateral sclerosis (ALS)   
Protein Interaction DatabaseNEFL
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
Exome Aggregation Consortium (ExAC)ENSG00000277586
SNP (GeneSNP Utah)NEFL
SNP : HGBaseNEFL
Genetic variants : HAPMAPNEFL
Genomic Variants (DGV)NEFL [DGVbeta]
Mutations
ICGC Data PortalNEFL 
TCGA Data PortalNEFL 
Tumor PortalNEFL
TCGA Copy Number PortalNEFL
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)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)8:24808469-24814383
CONAN: Copy Number AnalysisNEFL 
Mutations and Diseases : HGMDNEFL
OMIM162280    607684    607734   
MedgenNEFL
NextProtP07196 [Medical]
TSGene4747
GENETestsNEFL
Huge Navigator NEFL [HugePedia]  NEFL [HugeCancerGEM]
snp3D : Map Gene to Disease4747
BioCentury BCIQNEFL
General knowledge
Chemical/Protein Interactions : CTD4747
Chemical/Pharm GKB GenePA31542
Clinical trialNEFL
Other databases
Probes
Litterature
PubMed123 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNEFL
GoPubMedNEFL
iHOPNEFL
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 Jan 16 19:07:56 CET 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.