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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret jlhuret@AtlasGeneticsOncology.org
Donations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
Note: we send fiscal receipts for donations equal or above 50 Euros or Dollars

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NEFH (neurofilament, heavy polypeptide)

Identity

Other namesNFH
HGNC (Hugo) NEFH
LocusID (NCBI) 4744
Location 22q12.2
Location_base_pair Starts at 29876181 and ends at 29887277 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)NEFH   7737
Cards
Entrez_Gene (NCBI)NEFH  4744  neurofilament, heavy polypeptide
GeneCards (Weizmann)NEFH
Ensembl hg19 (Hinxton)ENSG00000100285 [Gene_View]  chr22:29876181-29887277 [Contig_View]  NEFH [Vega]
Ensembl hg38 (Hinxton)ENSG00000100285 [Gene_View]  chr22:29876181-29887277 [Contig_View]  NEFH [Vega]
ICGC DataPortalENSG00000100285
cBioPortalNEFH
AceView (NCBI)NEFH
Genatlas (Paris)NEFH
WikiGenes4744
SOURCE (Princeton)NEFH
Genomic and cartography
GoldenPath hg19 (UCSC)NEFH  -     chr22:29876181-29887277 +  22q12.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NEFH  -     22q12.2   [Description]    (hg38-Dec_2013)
EnsemblNEFH - 22q12.2 [CytoView hg19]  NEFH - 22q12.2 [CytoView hg38]
Mapping of homologs : NCBINEFH [Mapview hg19]  NEFH [Mapview hg38]
OMIM105400   162230   
Gene and transcription
Genbank (Entrez)AA908662 AB020652 AF203032 AK302660 BC008648
RefSeq transcript (Entrez)NM_021076
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_008404 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)NEFH
Cluster EST : UnigeneHs.198760 [ NCBI ]
CGAP (NCI)Hs.198760
Alternative Splicing : Fast-db (Paris)GSHG0019935
Alternative Splicing GalleryENSG00000100285
Gene ExpressionNEFH [ NCBI-GEO ]     NEFH [ SEEK ]   NEFH [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12036 (Uniprot)
NextProtP12036  [Medical]
With graphics : InterProP12036
Splice isoforms : SwissVarP12036 (Swissvar)
Domaine pattern : Prosite (Expaxy)IF (PS00226)   
Domains : Interpro (EBI)DUF1388    IF    Intermediate_filament_CS   
Related proteins : CluSTrP12036
Domain families : Pfam (Sanger)DUF1388 (PF07142)    Filament (PF00038)   
Domain families : Pfam (NCBI)pfam07142    pfam00038   
DMDM Disease mutations4744
Blocks (Seattle)P12036
Human Protein AtlasENSG00000100285
Peptide AtlasP12036
HPRD01204
IPIIPI00910602   IPI00386758   IPI01025089   
Protein Interaction databases
DIP (DOE-UCLA)P12036
IntAct (EBI)P12036
FunCoupENSG00000100285
BioGRIDNEFH
IntegromeDBNEFH
STRING (EMBL)NEFH
Ontologies - Pathways
QuickGOP12036
Ontology : AmiGOmicrotubule cytoskeleton organization  structural molecule activity  structural constituent of cytoskeleton  cytoplasm  mitochondrion  neurofilament  axonogenesis  microtubule binding  kinesin binding  protein kinase binding  cell projection assembly  axon  protein binding, bridging  neurofilament bundle assembly  dynein binding  peripheral nervous system neuron axonogenesis  axon development  neurofibrillary tangle  regulation of organelle transport along microtubule  
Ontology : EGO-EBImicrotubule cytoskeleton organization  structural molecule activity  structural constituent of cytoskeleton  cytoplasm  mitochondrion  neurofilament  axonogenesis  microtubule binding  kinesin binding  protein kinase binding  cell projection assembly  axon  protein binding, bridging  neurofilament bundle assembly  dynein binding  peripheral nervous system neuron axonogenesis  axon development  neurofibrillary tangle  regulation of organelle transport along microtubule  
Pathways : KEGGAmyotrophic lateral sclerosis (ALS)   
Protein Interaction DatabaseNEFH
DoCM (Curated mutations)NEFH
Wikipedia pathwaysNEFH
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerNEFH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NEFH
dbVarNEFH
ClinVarNEFH
1000_GenomesNEFH 
Exome Variant ServerNEFH
SNP (GeneSNP Utah)NEFH
SNP : HGBaseNEFH
Genetic variants : HAPMAPNEFH
Genomic Variants (DGV)NEFH [DGVbeta]
Mutations
ICGC Data PortalENSG00000100285 
Somatic Mutations in Cancer : COSMICNEFH 
CONAN: Copy Number AnalysisNEFH 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)22:29876181-29887277
Mutations and Diseases : HGMDNEFH
OMIM105400    162230   
MedgenNEFH
NextProtP12036 [Medical]
GENETestsNEFH
Disease Genetic AssociationNEFH
Huge Navigator NEFH [HugePedia]  NEFH [HugeCancerGEM]
snp3D : Map Gene to Disease4744
DGIdb (Drug Gene Interaction db)NEFH
General knowledge
Homologs : HomoloGeneNEFH
Homology/Alignments : Family Browser (UCSC)NEFH
Phylogenetic Trees/Animal Genes : TreeFamNEFH
Chemical/Protein Interactions : CTD4744
Chemical/Pharm GKB GenePA31540
Clinical trialNEFH
Cancer Resource (Charite)ENSG00000100285
Other databases
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
CoreMineNEFH
GoPubMedNEFH
iHOPNEFH
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
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Mar 28 16:39:53 CET 2015

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.