Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PPHLN1 (periphilin 1)

Identity

Other aliasCR
HSPC206
HSPC232
HGNC (Hugo) PPHLN1
LocusID (NCBI) 51535
Atlas_Id 55697
Location 12q12  [Link to chromosome band 12q12]
Location_base_pair Starts at 42326145 and ends at 42448620 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GXYLT1 (12q12) / PPHLN1 (12q12)PPHLN1 (12q12) / EHBP1 (2p15)PPHLN1 (12q12) / NMI (2q23.3)
PPHLN1 (12q12) / PAX3 (2q36.1)PPHLN1 (12q12) / PPHLN1 (12q12)PPHLN1 (12q12) / TMTC1 (12p11.22)

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)PPHLN1   19369
Cards
Entrez_Gene (NCBI)PPHLN1  51535  periphilin 1
AliasesCR; HSPC206; HSPC232
GeneCards (Weizmann)PPHLN1
Ensembl hg19 (Hinxton)ENSG00000134283 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134283 [Gene_View]  chr12:42326145-42448620 [Contig_View]  PPHLN1 [Vega]
ICGC DataPortalENSG00000134283
TCGA cBioPortalPPHLN1
AceView (NCBI)PPHLN1
Genatlas (Paris)PPHLN1
WikiGenes51535
SOURCE (Princeton)PPHLN1
Genetics Home Reference (NIH)PPHLN1
Genomic and cartography
GoldenPath hg38 (UCSC)PPHLN1  -     chr12:42326145-42448620 +  12q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PPHLN1  -     12q12   [Description]    (hg19-Feb_2009)
EnsemblPPHLN1 - 12q12 [CytoView hg19]  PPHLN1 - 12q12 [CytoView hg38]
Mapping of homologs : NCBIPPHLN1 [Mapview hg19]  PPHLN1 [Mapview hg38]
OMIM608150   
Gene and transcription
Genbank (Entrez)AF151040 AF151066 AK000186 AK055690 AK056622
RefSeq transcript (Entrez)NM_001143787 NM_001143788 NM_001143789 NM_016488 NM_201438 NM_201439 NM_201440 NM_201515
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PPHLN1
Cluster EST : UnigeneHs.444157 [ NCBI ]
CGAP (NCI)Hs.444157
Alternative Splicing GalleryENSG00000134283
Gene ExpressionPPHLN1 [ NCBI-GEO ]   PPHLN1 [ EBI - ARRAY_EXPRESS ]   PPHLN1 [ SEEK ]   PPHLN1 [ MEM ]
Gene Expression Viewer (FireBrowse)PPHLN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51535
GTEX Portal (Tissue expression)PPHLN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NEY8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NEY8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NEY8
Splice isoforms : SwissVarQ8NEY8
PhosPhoSitePlusQ8NEY8
Domains : Interpro (EBI)Pphln1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)PPHLN1
DMDM Disease mutations51535
Blocks (Seattle)PPHLN1
SuperfamilyQ8NEY8
Human Protein AtlasENSG00000134283
Peptide AtlasQ8NEY8
HPRD10488
IPIIPI00410039   IPI00410040   IPI00152093   IPI01022099   IPI00855705   IPI00410044   IPI00396937   IPI00922722   IPI00921802   IPI01008756   IPI01021818   IPI01021098   IPI01021530   IPI01022389   IPI01021660   IPI00917244   IPI00917094   
Protein Interaction databases
DIP (DOE-UCLA)Q8NEY8
IntAct (EBI)Q8NEY8
FunCoupENSG00000134283
BioGRIDPPHLN1
STRING (EMBL)PPHLN1
ZODIACPPHLN1
Ontologies - Pathways
QuickGOQ8NEY8
Ontology : AmiGORNA binding  protein binding  nucleoplasm  chromosome  Golgi apparatus  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  keratinization  
Ontology : EGO-EBIRNA binding  protein binding  nucleoplasm  chromosome  Golgi apparatus  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  keratinization  
NDEx NetworkPPHLN1
Atlas of Cancer Signalling NetworkPPHLN1
Wikipedia pathwaysPPHLN1
Orthology - Evolution
OrthoDB51535
GeneTree (enSembl)ENSG00000134283
Phylogenetic Trees/Animal Genes : TreeFamPPHLN1
HOVERGENQ8NEY8
HOGENOMQ8NEY8
Homologs : HomoloGenePPHLN1
Homology/Alignments : Family Browser (UCSC)PPHLN1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPPHLN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPHLN1
dbVarPPHLN1
ClinVarPPHLN1
1000_GenomesPPHLN1 
Exome Variant ServerPPHLN1
ExAC (Exome Aggregation Consortium)PPHLN1 (select the gene name)
Genetic variants : HAPMAP51535
Genomic Variants (DGV)PPHLN1 [DGVbeta]
DECIPHERPPHLN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPPHLN1 
Mutations
ICGC Data PortalPPHLN1 
TCGA Data PortalPPHLN1 
Broad Tumor PortalPPHLN1
OASIS PortalPPHLN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPPHLN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPPHLN1
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 PPHLN1
DgiDB (Drug Gene Interaction Database)PPHLN1
DoCM (Curated mutations)PPHLN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PPHLN1 (select a term)
intoGenPPHLN1
Cancer3DPPHLN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608150   
Orphanet
MedgenPPHLN1
Genetic Testing Registry PPHLN1
NextProtQ8NEY8 [Medical]
TSGene51535
GENETestsPPHLN1
Target ValidationPPHLN1
Huge Navigator PPHLN1 [HugePedia]
snp3D : Map Gene to Disease51535
BioCentury BCIQPPHLN1
ClinGenPPHLN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51535
Chemical/Pharm GKB GenePA134881011
Clinical trialPPHLN1
Miscellaneous
canSAR (ICR)PPHLN1 (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePPHLN1
EVEXPPHLN1
GoPubMedPPHLN1
iHOPPPHLN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:50:31 CEST 2017

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