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NEFH (neurofilament heavy)

Identity

Alias_namesneurofilament
Other aliasCMT2CC
NFH
HGNC (Hugo) NEFH
LocusID (NCBI) 4744
Atlas_Id 51698
Location 22q12.2  [Link to chromosome band 22q12]
Location_base_pair Starts at 29480192 and ends at 29491288 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)
MSMB (10q11.23) / NEFH (22q12.2)NEFH (22q12.2) / NEFH (22q12.2)

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)NEFH   7737
Cards
Entrez_Gene (NCBI)NEFH  4744  neurofilament heavy
AliasesCMT2CC; NFH
GeneCards (Weizmann)NEFH
Ensembl hg19 (Hinxton)ENSG00000100285 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100285 [Gene_View]  chr22:29480192-29491288 [Contig_View]  NEFH [Vega]
ICGC DataPortalENSG00000100285
TCGA cBioPortalNEFH
AceView (NCBI)NEFH
Genatlas (Paris)NEFH
WikiGenes4744
SOURCE (Princeton)NEFH
Genetics Home Reference (NIH)NEFH
Genomic and cartography
GoldenPath hg38 (UCSC)NEFH  -     chr22:29480192-29491288 +  22q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NEFH  -     22q12.2   [Description]    (hg19-Feb_2009)
EnsemblNEFH - 22q12.2 [CytoView hg19]  NEFH - 22q12.2 [CytoView hg38]
Mapping of homologs : NCBINEFH [Mapview hg19]  NEFH [Mapview hg38]
OMIM105400   162230   616924   
Gene and transcription
Genbank (Entrez)AA908662 AB020652 AF203032 AK302660 BC008648
RefSeq transcript (Entrez)NM_021076
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NEFH
Cluster EST : UnigeneHs.198760 [ NCBI ]
CGAP (NCI)Hs.198760
Alternative Splicing GalleryENSG00000100285
Gene ExpressionNEFH [ NCBI-GEO ]   NEFH [ EBI - ARRAY_EXPRESS ]   NEFH [ SEEK ]   NEFH [ MEM ]
Gene Expression Viewer (FireBrowse)NEFH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4744
GTEX Portal (Tissue expression)NEFH
Human Protein AtlasENSG00000100285-NEFH [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12036   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP12036  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12036
Splice isoforms : SwissVarP12036
PhosPhoSitePlusP12036
Domaine pattern : Prosite (Expaxy)IF (PS00226)   
Domains : Interpro (EBI)DUF1388    IF    Intermediate_filament_CS    NF-H   
Domain families : Pfam (Sanger)DUF1388 (PF07142)    Filament (PF00038)   
Domain families : Pfam (NCBI)pfam07142    pfam00038   
Domain families : Smart (EMBL)Filament (SM01391)  
Conserved Domain (NCBI)NEFH
DMDM Disease mutations4744
Blocks (Seattle)NEFH
SuperfamilyP12036
Human Protein Atlas [tissue]ENSG00000100285-NEFH [tissue]
Peptide AtlasP12036
HPRD01204
IPIIPI00910602   IPI00386758   IPI01025089   
Protein Interaction databases
DIP (DOE-UCLA)P12036
IntAct (EBI)P12036
FunCoupENSG00000100285
BioGRIDNEFH
STRING (EMBL)NEFH
ZODIACNEFH
Ontologies - Pathways
QuickGOP12036
Ontology : AmiGOmicrotubule cytoskeleton organization  structural molecule activity  structural constituent of cytoskeleton  cytoplasm  cytoplasm  mitochondrion  neurofilament  axonogenesis  microtubule binding  postsynaptic density  kinesin binding  protein kinase binding  cell projection assembly  axon  protein binding, bridging  neurofilament bundle assembly  myelin sheath  peripheral nervous system neuron axonogenesis  axon development  dynein complex binding  neurofibrillary tangle  regulation of organelle transport along microtubule  
Ontology : EGO-EBImicrotubule cytoskeleton organization  structural molecule activity  structural constituent of cytoskeleton  cytoplasm  cytoplasm  mitochondrion  neurofilament  axonogenesis  microtubule binding  postsynaptic density  kinesin binding  protein kinase binding  cell projection assembly  axon  protein binding, bridging  neurofilament bundle assembly  myelin sheath  peripheral nervous system neuron axonogenesis  axon development  dynein complex binding  neurofibrillary tangle  regulation of organelle transport along microtubule  
Pathways : KEGGAmyotrophic lateral sclerosis (ALS)   
NDEx NetworkNEFH
Atlas of Cancer Signalling NetworkNEFH
Wikipedia pathwaysNEFH
Orthology - Evolution
OrthoDB4744
GeneTree (enSembl)ENSG00000100285
Phylogenetic Trees/Animal Genes : TreeFamNEFH
HOVERGENP12036
HOGENOMP12036
Homologs : HomoloGeneNEFH
Homology/Alignments : Family Browser (UCSC)NEFH
Gene fusions - Rearrangements
Fusion: Tumor Portal NEFH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNEFH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NEFH
dbVarNEFH
ClinVarNEFH
1000_GenomesNEFH 
Exome Variant ServerNEFH
ExAC (Exome Aggregation Consortium)ENSG00000100285
GNOMAD BrowserENSG00000100285
Genetic variants : HAPMAP4744
Genomic Variants (DGV)NEFH [DGVbeta]
DECIPHERNEFH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNEFH 
Mutations
ICGC Data PortalNEFH 
TCGA Data PortalNEFH 
Broad Tumor PortalNEFH
OASIS PortalNEFH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNEFH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNEFH
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 NEFH
DgiDB (Drug Gene Interaction Database)NEFH
DoCM (Curated mutations)NEFH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NEFH (select a term)
intoGenNEFH
Cancer3DNEFH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM105400    162230    616924   
Orphanet106   
MedgenNEFH
Genetic Testing Registry NEFH
NextProtP12036 [Medical]
TSGene4744
GENETestsNEFH
Target ValidationNEFH
Huge Navigator NEFH [HugePedia]
snp3D : Map Gene to Disease4744
BioCentury BCIQNEFH
ClinGenNEFH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4744
Chemical/Pharm GKB GenePA31540
Clinical trialNEFH
Miscellaneous
canSAR (ICR)NEFH (select the gene name)
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNEFH
EVEXNEFH
GoPubMedNEFH
iHOPNEFH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 13:02:24 CET 2017

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