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NEFL (neurofilament, light polypeptide)

Identity

Other namesCMT1F
CMT2E
NF-L
NF68
NFL
PPP1R110
HGNC (Hugo) NEFL
LocusID (NCBI) 4747
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

External links

Nomenclature
HGNC (Hugo)NEFL   7739
Cards
Entrez_Gene (NCBI)NEFL  4747  neurofilament, light polypeptide
GeneCards (Weizmann)NEFL
Ensembl hg19 (Hinxton) [Gene_View]  chr8:24808469-24814383 [Contig_View]  NEFL [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr8:24808469-24814383 [Contig_View]  NEFL [Vega]
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)AC_000140 NC_000008 NC_018919 NG_008492 NT_167187 NW_001839127 NW_004929337
Consensus coding sequences : CCDS (NCBI)NEFL
Cluster EST : UnigeneHs.521461 [ NCBI ]
CGAP (NCI)Hs.521461
Alternative Splicing : Fast-db (Paris)GSHG0029474
Gene ExpressionNEFL [ NCBI-GEO ]     NEFL [ SEEK ]   NEFL [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07196 (Uniprot)
NextProtP07196  [Medical]
With graphics : InterProP07196
Splice isoforms : SwissVarP07196 (Swissvar)
Domaine pattern : Prosite (Expaxy)IF (PS00226)   
Domains : Interpro (EBI)IF    Intermed_filament_DNA-bd    Intermediate_filament_CS    NF-L   
Related proteins : CluSTrP07196
Domain families : Pfam (Sanger)Filament (PF00038)    Filament_head (PF04732)   
Domain families : Pfam (NCBI)pfam00038    pfam04732   
DMDM Disease mutations4747
Blocks (Seattle)P07196
Peptide AtlasP07196
HPRD01206
IPIIPI00237671   IPI00953284   
Protein Interaction databases
DIP (DOE-UCLA)P07196
IntAct (EBI)P07196
BioGRIDNEFL
IntegromeDBNEFL
STRING (EMBL)NEFL
Ontologies - Pathways
QuickGOP07196
Ontology : AmiGOstructural constituent of cytoskeleton  protein binding  cytoplasm  cytosol  neurofilament  synaptic transmission  protein C-terminus binding  anterograde axon cargo transport  retrograde axon cargo transport  cell death  axon transport of mitochondrion  axon  protein binding, bridging  TSC1-TSC2 complex  neurofilament bundle assembly  neurofilament bundle assembly  identical protein binding  intermediate filament organization  
Ontology : EGO-EBIstructural constituent of cytoskeleton  protein binding  cytoplasm  cytosol  neurofilament  synaptic transmission  protein C-terminus binding  anterograde axon cargo transport  retrograde axon cargo transport  cell death  axon transport of mitochondrion  axon  protein binding, bridging  TSC1-TSC2 complex  neurofilament bundle assembly  neurofilament bundle assembly  identical protein binding  intermediate filament organization  
Pathways : KEGGAmyotrophic lateral sclerosis (ALS)   
Protein Interaction DatabaseNEFL
DoCM (Curated mutations)NEFL
Wikipedia pathwaysNEFL
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerNEFL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NEFL
dbVarNEFL
ClinVarNEFL
1000_GenomesNEFL 
Exome Variant ServerNEFL
SNP (GeneSNP Utah)NEFL
SNP : HGBaseNEFL
Genetic variants : HAPMAPNEFL
Genomic VariantsNEFL  NEFL [DGVbeta]
Mutations
Somatic Mutations in Cancer : COSMICNEFL 
CONAN: Copy Number AnalysisNEFL 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)8:24808469-24814383
Mutations and Diseases : HGMDNEFL
OMIM162280    607684    607734   
MedgenNEFL
NextProtP07196 [Medical]
GENETestsNEFL
Disease Genetic AssociationNEFL
Huge Navigator NEFL [HugePedia]  NEFL [HugeCancerGEM]
snp3D : Map Gene to Disease4747
DGIdb (Drug Gene Interaction db)NEFL
General knowledge
Homologs : HomoloGeneNEFL
Homology/Alignments : Family Browser (UCSC)NEFL
Phylogenetic Trees/Animal Genes : TreeFamNEFL
Chemical/Protein Interactions : CTD4747
Chemical/Pharm GKB GenePA31542
Clinical trialNEFL
Other databases
Probes
Litterature
PubMed105 Pubmed reference(s) in 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

Contributor(s)

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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:26:25 CET 2014

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