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PHC1 (polyhomeotic homolog 1)

Identity

Alias_namesEDR1
early development regulator 1 (homolog of polyhomeotic 1)
polyhomeotic-like 1 (Drosophila)
polyhomeotic homolog 1 (Drosophila)
Alias_symbol (synonym)HPH1
RAE28
Other aliasMCPH11
HGNC (Hugo) PHC1
LocusID (NCBI) 1911
Atlas_Id 71878
Location 12p13.31  [Link to chromosome band 12p13]
Location_base_pair Starts at 8914720 and ends at 8941464 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
A2ML1 (12p13.31) / PHC1 (12p13.31)PHC1 (12p13.31) / SEC63 (6q21)ZNF207 (17q11.2) / PHC1 (12p13.31)

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)PHC1   3182
Cards
Entrez_Gene (NCBI)PHC1  1911  polyhomeotic homolog 1
AliasesEDR1; HPH1; MCPH11; RAE28
GeneCards (Weizmann)PHC1
Ensembl hg19 (Hinxton)ENSG00000111752 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111752 [Gene_View]  chr12:8914720-8941464 [Contig_View]  PHC1 [Vega]
ICGC DataPortalENSG00000111752
TCGA cBioPortalPHC1
AceView (NCBI)PHC1
Genatlas (Paris)PHC1
WikiGenes1911
SOURCE (Princeton)PHC1
Genetics Home Reference (NIH)PHC1
Genomic and cartography
GoldenPath hg38 (UCSC)PHC1  -     chr12:8914720-8941464 +  12p13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHC1  -     12p13.31   [Description]    (hg19-Feb_2009)
EnsemblPHC1 - 12p13.31 [CytoView hg19]  PHC1 - 12p13.31 [CytoView hg38]
Mapping of homologs : NCBIPHC1 [Mapview hg19]  PHC1 [Mapview hg38]
OMIM602978   615414   
Gene and transcription
Genbank (Entrez)AB209063 AK293893 BC002871 BC017748 BC073964
RefSeq transcript (Entrez)NM_004426
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHC1
Cluster EST : UnigeneHs.744902 [ NCBI ]
CGAP (NCI)Hs.744902
Alternative Splicing GalleryENSG00000111752
Gene ExpressionPHC1 [ NCBI-GEO ]   PHC1 [ EBI - ARRAY_EXPRESS ]   PHC1 [ SEEK ]   PHC1 [ MEM ]
Gene Expression Viewer (FireBrowse)PHC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1911
GTEX Portal (Tissue expression)PHC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP78364   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP78364  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP78364
Splice isoforms : SwissVarP78364
PhosPhoSitePlusP78364
Domaine pattern : Prosite (Expaxy)SAM_DOMAIN (PS50105)    ZF_FCS (PS51024)   
Domains : Interpro (EBI)SAM    SAM/pointed    Znf_FCS   
Domain families : Pfam (Sanger)SAM_1 (PF00536)   
Domain families : Pfam (NCBI)pfam00536   
Domain families : Smart (EMBL)SAM (SM00454)  
Conserved Domain (NCBI)PHC1
DMDM Disease mutations1911
Blocks (Seattle)PHC1
PDB (SRS)2L8E   
PDB (PDBSum)2L8E   
PDB (IMB)2L8E   
PDB (RSDB)2L8E   
Structural Biology KnowledgeBase2L8E   
SCOP (Structural Classification of Proteins)2L8E   
CATH (Classification of proteins structures)2L8E   
SuperfamilyP78364
Human Protein AtlasENSG00000111752
Peptide AtlasP78364
HPRD16009
IPIIPI00555755   IPI00909980   IPI01018919   IPI00979023   IPI01012593   IPI01009885   IPI01014955   IPI01010212   IPI01015733   IPI01014536   IPI01013122   
Protein Interaction databases
DIP (DOE-UCLA)P78364
IntAct (EBI)P78364
FunCoupENSG00000111752
BioGRIDPHC1
STRING (EMBL)PHC1
ZODIACPHC1
Ontologies - Pathways
QuickGOP78364
Ontology : AmiGODNA binding  nucleus  nucleoplasm  multicellular organism development  zinc ion binding  histone ubiquitination  PcG protein complex  PRC1 complex  
Ontology : EGO-EBIDNA binding  nucleus  nucleoplasm  multicellular organism development  zinc ion binding  histone ubiquitination  PcG protein complex  PRC1 complex  
Pathways : BIOCARTAThe PRC2 Complex Sets Long-term Gene Silencing Through Modification of Histone Tails [Genes]   
NDEx NetworkPHC1
Atlas of Cancer Signalling NetworkPHC1
Wikipedia pathwaysPHC1
Orthology - Evolution
OrthoDB1911
GeneTree (enSembl)ENSG00000111752
Phylogenetic Trees/Animal Genes : TreeFamPHC1
HOVERGENP78364
HOGENOMP78364
Homologs : HomoloGenePHC1
Homology/Alignments : Family Browser (UCSC)PHC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHC1
dbVarPHC1
ClinVarPHC1
1000_GenomesPHC1 
Exome Variant ServerPHC1
ExAC (Exome Aggregation Consortium)PHC1 (select the gene name)
Genetic variants : HAPMAP1911
Genomic Variants (DGV)PHC1 [DGVbeta]
DECIPHERPHC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHC1 
Mutations
ICGC Data PortalPHC1 
TCGA Data PortalPHC1 
Broad Tumor PortalPHC1
OASIS PortalPHC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPHC1
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 PHC1
DgiDB (Drug Gene Interaction Database)PHC1
DoCM (Curated mutations)PHC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHC1 (select a term)
intoGenPHC1
Cancer3DPHC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602978    615414   
Orphanet732   
MedgenPHC1
Genetic Testing Registry PHC1
NextProtP78364 [Medical]
TSGene1911
GENETestsPHC1
Huge Navigator PHC1 [HugePedia]
snp3D : Map Gene to Disease1911
BioCentury BCIQPHC1
ClinGenPHC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1911
Chemical/Pharm GKB GenePA27619
Clinical trialPHC1
Miscellaneous
canSAR (ICR)PHC1 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHC1
EVEXPHC1
GoPubMedPHC1
iHOPPHC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 11:48:29 CEST 2017

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