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PRPH (peripherin)

Identity

Alias_namesNEF4
Alias_symbol (synonym)PRPH1
HGNC (Hugo) PRPH
LocusID (NCBI) 5630
Atlas_Id 50325
Location 12q13.12  [Link to chromosome band 12q13]
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
AliasesNEF4; PRPH1
GeneCards (Weizmann)PRPH
Ensembl hg19 (Hinxton)ENSG00000135406 [Gene_View]  chr12:49688909-49692481 [Contig_View]  PRPH [Vega]
Ensembl hg38 (Hinxton)ENSG00000135406 [Gene_View]  chr12:49688909-49692481 [Contig_View]  PRPH [Vega]
ICGC DataPortalENSG00000135406
TCGA cBioPortalPRPH
AceView (NCBI)PRPH
Genatlas (Paris)PRPH
WikiGenes5630
SOURCE (Princeton)PRPH
Genetics Home Reference (NIH)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 GalleryENSG00000135406
Gene ExpressionPRPH [ NCBI-GEO ]   PRPH [ EBI - ARRAY_EXPRESS ]   PRPH [ SEEK ]   PRPH [ MEM ]
Gene Expression Viewer (FireBrowse)PRPH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5630
GTEX Portal (Tissue expression)PRPH
Protein : pattern, domain, 3D structure
UniProt/SwissProtP41219   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP41219  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP41219
Splice isoforms : SwissVarP41219
PhosPhoSitePlusP41219
Domaine pattern : Prosite (Expaxy)IF (PS00226)   
Domains : Interpro (EBI)IF    Intermed_filament_DNA-bd    Intermediate_filament_CS    Keratin_I    PRPH/Plasticin   
Domain families : Pfam (Sanger)Filament (PF00038)    Filament_head (PF04732)   
Domain families : Pfam (NCBI)pfam00038    pfam04732   
Conserved Domain (NCBI)PRPH
DMDM Disease mutations5630
Blocks (Seattle)PRPH
SuperfamilyP41219
Human Protein AtlasENSG00000135406
Peptide AtlasP41219
HPRD01365
IPIIPI00013164   IPI00793184   IPI00795995   
Protein Interaction databases
DIP (DOE-UCLA)P41219
IntAct (EBI)P41219
FunCoupENSG00000135406
BioGRIDPRPH
STRING (EMBL)PRPH
ZODIACPRPH
Ontologies - Pathways
QuickGOP41219
Ontology : AmiGOstructural molecule activity  intermediate filament  membrane  type III intermediate filament  intermediate filament cytoskeleton organization  protein heterodimerization activity  extracellular exosome  
Ontology : EGO-EBIstructural molecule activity  intermediate filament  membrane  type III intermediate filament  intermediate filament cytoskeleton organization  protein heterodimerization activity  extracellular exosome  
Pathways : KEGGAmyotrophic lateral sclerosis (ALS)   
NDEx NetworkPRPH
Atlas of Cancer Signalling NetworkPRPH
Wikipedia pathwaysPRPH
Orthology - Evolution
OrthoDB5630
GeneTree (enSembl)ENSG00000135406
Phylogenetic Trees/Animal Genes : TreeFamPRPH
HOVERGENP41219
HOGENOMP41219
Homologs : HomoloGenePRPH
Homology/Alignments : Family Browser (UCSC)PRPH
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRPH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRPH
dbVarPRPH
ClinVarPRPH
1000_GenomesPRPH 
Exome Variant ServerPRPH
ExAC (Exome Aggregation Consortium)PRPH (select the gene name)
Genetic variants : HAPMAP5630
Genomic Variants (DGV)PRPH [DGVbeta]
DECIPHER (Syndromes)12:49688909-49692481  ENSG00000135406
CONAN: Copy Number AnalysisPRPH 
Mutations
ICGC Data PortalPRPH 
TCGA Data PortalPRPH 
Broad Tumor PortalPRPH
OASIS PortalPRPH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRPH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRPH
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 PRPH
DgiDB (Drug Gene Interaction Database)PRPH
DoCM (Curated mutations)PRPH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRPH (select a term)
intoGenPRPH
Cancer3DPRPH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM105400    170710   
Orphanet106   
MedgenPRPH
Genetic Testing Registry PRPH
NextProtP41219 [Medical]
TSGene5630
GENETestsPRPH
Huge Navigator PRPH [HugePedia]
snp3D : Map Gene to Disease5630
BioCentury BCIQPRPH
ClinGenPRPH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5630
Chemical/Pharm GKB GenePA33816
Clinical trialPRPH
Miscellaneous
canSAR (ICR)PRPH (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRPH
EVEXPRPH
GoPubMedPRPH
iHOPPRPH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:48:39 CET 2016

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