Atlas of Genetics and Cytogenetics in Oncology and Haematology


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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economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas).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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PRPH (peripherin)

Identity

Other namesNEF4
PRPH1
HGNC (Hugo) PRPH
LocusID (NCBI) 5630
Location 12q13.12
Location_base_pair Starts at 49688909 and ends at 49692481 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)PRPH   9461
Cards
Entrez_Gene (NCBI)PRPH  5630  peripherin
GeneCards (Weizmann)PRPH
Ensembl hg19 (Hinxton) [Gene_View]  chr12:49688909-49692481 [Contig_View]  PRPH [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr12:49688909-49692481 [Contig_View]  PRPH [Vega]
cBioPortalPRPH
AceView (NCBI)PRPH
Genatlas (Paris)PRPH
WikiGenes5630
SOURCE (Princeton)PRPH
Genomic and cartography
GoldenPath hg19 (UCSC)PRPH  -     chr12:49688909-49692481 +  12q13.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PRPH  -     12q13.12   [Description]    (hg38-Dec_2013)
EnsemblPRPH - 12q13.12 [CytoView hg19]  PRPH - 12q13.12 [CytoView hg38]
Mapping of homologs : NCBIPRPH [Mapview hg19]  PRPH [Mapview hg38]
OMIM105400   170710   
Gene and transcription
Genbank (Entrez)AA460760 AK125587 BC032703 BF448012 DQ893358
RefSeq transcript (Entrez)NM_006262
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_008354 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)PRPH
Cluster EST : UnigeneHs.37044 [ NCBI ]
CGAP (NCI)Hs.37044
Alternative Splicing : Fast-db (Paris)GSHG0006633
Gene ExpressionPRPH [ NCBI-GEO ]     PRPH [ SEEK ]   PRPH [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP41219 (Uniprot)
NextProtP41219  [Medical]
With graphics : InterProP41219
Splice isoforms : SwissVarP41219 (Swissvar)
Domaine pattern : Prosite (Expaxy)IF (PS00226)   
Domains : Interpro (EBI)IF    Intermed_filament_DNA-bd    Intermediate_filament_CS    Keratin_I    PRPH/Plasticin   
Related proteins : CluSTrP41219
Domain families : Pfam (Sanger)Filament (PF00038)    Filament_head (PF04732)   
Domain families : Pfam (NCBI)pfam00038    pfam04732   
DMDM Disease mutations5630
Blocks (Seattle)P41219
Peptide AtlasP41219
HPRD01365
IPIIPI00013164   IPI00793184   IPI00795995   
Protein Interaction databases
DIP (DOE-UCLA)P41219
IntAct (EBI)P41219
BioGRIDPRPH
IntegromeDBPRPH
STRING (EMBL)PRPH
Ontologies - Pathways
QuickGOP41219
Ontology : AmiGOstructural molecule activity  intermediate filament  neurofilament  membrane  photoreceptor outer segment membrane  C-fiber  type III intermediate filament  intermediate filament cytoskeleton organization  extracellular exosome  
Ontology : EGO-EBIstructural molecule activity  intermediate filament  neurofilament  membrane  photoreceptor outer segment membrane  C-fiber  type III intermediate filament  intermediate filament cytoskeleton organization  extracellular exosome  
Pathways : KEGGAmyotrophic lateral sclerosis (ALS)   
Protein Interaction DatabasePRPH
DoCM (Curated mutations)PRPH
Wikipedia pathwaysPRPH
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPRPH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRPH
dbVarPRPH
ClinVarPRPH
1000_GenomesPRPH 
Exome Variant ServerPRPH
SNP (GeneSNP Utah)PRPH
SNP : HGBasePRPH
Genetic variants : HAPMAPPRPH
Genomic Variants (DGV)PRPH [DGVbeta]
Mutations
Somatic Mutations in Cancer : COSMICPRPH 
CONAN: Copy Number AnalysisPRPH 
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)12:49688909-49692481
Mutations and Diseases : HGMDPRPH
OMIM105400    170710   
MedgenPRPH
NextProtP41219 [Medical]
GENETestsPRPH
Disease Genetic AssociationPRPH
Huge Navigator PRPH [HugePedia]  PRPH [HugeCancerGEM]
snp3D : Map Gene to Disease5630
DGIdb (Drug Gene Interaction db)PRPH
General knowledge
Homologs : HomoloGenePRPH
Homology/Alignments : Family Browser (UCSC)PRPH
Phylogenetic Trees/Animal Genes : TreeFamPRPH
Chemical/Protein Interactions : CTD5630
Chemical/Pharm GKB GenePA33816
Clinical trialPRPH
Other databases
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
CoreMinePRPH
GoPubMedPRPH
iHOPPRPH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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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 17:01:39 CET 2015

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jlhuret@AtlasGeneticsOncology.org.