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NEFM (neurofilament medium)

Identity

Alias_namesNEF3
neurofilament, medium polypeptide 150kDa
neurofilament, medium polypeptide
Alias_symbol (synonym)NFM
NF-M
Other alias
HGNC (Hugo) NEFM
LocusID (NCBI) 4741
Atlas_Id 57073
Location 8p21.2  [Link to chromosome band 8p21]
Location_base_pair Starts at 24913761 and ends at 24919093 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
NEFM (8p21.2) / NEFM (8p21.2)NEFM (8p21.2) / NOL4 (18q12.1)PARG (10q11.23) / NEFM (8p21.2)

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)NEFM   7734
Cards
Entrez_Gene (NCBI)NEFM  4741  neurofilament medium
AliasesNEF3; NF-M; NFM
GeneCards (Weizmann)NEFM
Ensembl hg19 (Hinxton)ENSG00000104722 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104722 [Gene_View]  ENSG00000104722 [Sequence]  chr8:24913761-24919093 [Contig_View]  NEFM [Vega]
ICGC DataPortalENSG00000104722
TCGA cBioPortalNEFM
AceView (NCBI)NEFM
Genatlas (Paris)NEFM
WikiGenes4741
SOURCE (Princeton)NEFM
Genetics Home Reference (NIH)NEFM
Genomic and cartography
GoldenPath hg38 (UCSC)NEFM  -     chr8:24913761-24919093 +  8p21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NEFM  -     8p21.2   [Description]    (hg19-Feb_2009)
GoldenPathNEFM - 8p21.2 [CytoView hg19]  NEFM - 8p21.2 [CytoView hg38]
Genome Data Viewer NCBINEFM [Mapview hg19]  
OMIM162250   
Gene and transcription
Genbank (Entrez)AF181990 AK294681 AK296226 BC002421 BC071752
RefSeq transcript (Entrez)NM_001105541 NM_005382
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NEFM
Alternative Splicing GalleryENSG00000104722
Gene ExpressionNEFM [ NCBI-GEO ]   NEFM [ EBI - ARRAY_EXPRESS ]   NEFM [ SEEK ]   NEFM [ MEM ]
Gene Expression Viewer (FireBrowse)NEFM [ Firebrowse - Broad ]
GenevisibleExpression of NEFM in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4741
GTEX Portal (Tissue expression)NEFM
Human Protein AtlasENSG00000104722-NEFM [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07197   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP07197  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP07197
Splice isoforms : SwissVarP07197
PhosPhoSitePlusP07197
Domaine pattern : Prosite (Expaxy)IF_ROD_1 (PS00226)    IF_ROD_2 (PS51842)   
Domains : Interpro (EBI)IF_conserved    IF_rod_dom    IF_rod_dom_coil1B    Intermed_filament_DNA-bd    Keratin_I    NF-M   
Domain families : Pfam (Sanger)Filament (PF00038)    Filament_head (PF04732)   
Domain families : Pfam (NCBI)pfam00038    pfam04732   
Domain families : Smart (EMBL)Filament (SM01391)  
Conserved Domain (NCBI)NEFM
DMDM Disease mutations4741
SuperfamilyP07197
Human Protein Atlas [tissue]ENSG00000104722-NEFM [tissue]
Peptide AtlasP07197
IPIIPI00217507   IPI00853115   IPI00747276   IPI00868727   IPI00908745   
Protein Interaction databases
DIP (DOE-UCLA)P07197
IntAct (EBI)P07197
FunCoupENSG00000104722
BioGRIDNEFM
STRING (EMBL)NEFM
ZODIACNEFM
Ontologies - Pathways
QuickGOP07197
Ontology : AmiGOstructural constituent of cytoskeleton  protein binding  neurofilament  microtubule binding  axon  neurofilament bundle assembly  intermediate filament cytoskeleton  neurofibrillary tangle  
Ontology : EGO-EBIstructural constituent of cytoskeleton  protein binding  neurofilament  microtubule binding  axon  neurofilament bundle assembly  intermediate filament cytoskeleton  neurofibrillary tangle  
Pathways : KEGGAmyotrophic lateral sclerosis (ALS)   
NDEx NetworkNEFM
Atlas of Cancer Signalling NetworkNEFM
Wikipedia pathwaysNEFM
Orthology - Evolution
OrthoDB4741
GeneTree (enSembl)ENSG00000104722
Phylogenetic Trees/Animal Genes : TreeFamNEFM
HOGENOMP07197
Homologs : HomoloGeneNEFM
Homology/Alignments : Family Browser (UCSC)NEFM
Gene fusions - Rearrangements
Fusion : QuiverNEFM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNEFM [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NEFM
dbVarNEFM
ClinVarNEFM
1000_GenomesNEFM 
Exome Variant ServerNEFM
GNOMAD BrowserENSG00000104722
Varsome BrowserNEFM
Genetic variants : HAPMAP4741
Genomic Variants (DGV)NEFM [DGVbeta]
DECIPHERNEFM [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNEFM 
Mutations
ICGC Data PortalNEFM 
TCGA Data PortalNEFM 
Broad Tumor PortalNEFM
OASIS PortalNEFM [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNEFM  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNEFM
Mutations and Diseases : HGMDNEFM
BioMutaselect NEFM
DgiDB (Drug Gene Interaction Database)NEFM
DoCM (Curated mutations)NEFM (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NEFM (select a term)
intoGenNEFM
Cancer3DNEFM (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM162250   
Orphanet
DisGeNETNEFM
MedgenNEFM
Genetic Testing Registry NEFM
NextProtP07197 [Medical]
TSGene4741
GENETestsNEFM
Open Targets GeneticsENSG00000104722  [validation]
snp3D : Map Gene to Disease4741
BioCentury BCIQNEFM
ClinGenNEFM
Clinical trials, drugs, therapy
Protein Interactions : CTD4741
Pharm GKB GenePA162397442
Clinical trialNEFM
Miscellaneous
canSAR (ICR)NEFM (select the gene name)
HarmonizomeNEFM
DataMed IndexNEFM
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNEFM
EVEXNEFM
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jul 11 20:02:05 CEST 2020
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