Atlas of Genetics and Cytogenetics in Oncology and Haematology


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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 (Hinxton) [Gene_View]  chr12:49688909-49692481 [Contig_View]  PRPH [Vega]
cBioPortalPRPH
AceView (NCBI)PRPH
Genatlas (Paris)PRPH
WikiGenes5630
SOURCE (Princeton)NM_006262
Genomic and cartography
GoldenPath (UCSC)PRPH  -  12q13.12   chr12:49688909-49692481 +  12q13.12   [Description]    (hg19-Feb_2009)
EnsemblPRPH - 12q13.12 [CytoView]
Mapping of homologs : NCBIPRPH [Mapview]
OMIM105400   170710   
Gene and transcription
Genbank (Entrez)AA460760 AK125587 BC032703 BF448012 DQ893358
RefSeq transcript (Entrez)NM_006262
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_008354 NT_029419 NW_001838057 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 ]
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 [organisation]   Intermed_filament_DNA-bd [organisation]   Intermediate_filament_CS [organisation]   Keratin_I [organisation]   PRPH [organisation]  
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
InParanoidP41219
Interologous Interaction database P41219
IntegromeDBPRPH
STRING (EMBL)PRPH
Ontologies - Pathways
Ontology : AmiGOstructural molecule activity  intermediate filament  neurofilament  photoreceptor outer segment membrane  C-fiber  type III intermediate filament  intermediate filament cytoskeleton organization  
Ontology : EGO-EBIstructural molecule activity  intermediate filament  neurofilament  photoreceptor outer segment membrane  C-fiber  type III intermediate filament  intermediate filament cytoskeleton organization  
Pathways : KEGGAmyotrophic lateral sclerosis (ALS)   
Protein Interaction DatabasePRPH
Wikipedia pathwaysPRPH
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PRPH
snp3D : Map Gene to Disease5630
SNP (GeneSNP Utah)PRPH
SNP : HGBasePRPH
Genetic variants : HAPMAPPRPH
Exome VariantPRPH
1000_GenomesPRPH 
Somatic Mutations in Cancer : COSMICPRPH 
CONAN: Copy Number AnalysisPRPH 
Mutations and Diseases : HGMDPRPH
Genomic VariantsPRPH  PRPH [DGVbeta]
dbVarPRPH
ClinVarPRPH
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM105400    170710   
MedgenPRPH
GENETestsPRPH
Disease Genetic AssociationPRPH
Huge Navigator PRPH [HugePedia]  PRPH [HugeCancerGEM]
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
PubMed51 Pubmed reference(s) in Entrez
CoreMinePRPH
iHOPPRPH
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 17:14:06 CEST 2014

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