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PHF3 (PHD finger protein 3)

Identity

Other alias-
HGNC (Hugo) PHF3
LocusID (NCBI) 23469
Atlas_Id 53978
Location 6q12  [Link to chromosome band 6q12]
Location_base_pair Starts at 63646526 and ends at 63715522 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PHF3 (6q12) / EYS (6q12)PHF3 (6q12) / NOMO2 (16p12.3)PHF3 (6q12) / PHF3 (6q12)
PHF3 (6q12) / R3HCC1 (8p21.3)SACS (13q12.12) / PHF3 (6q12)SEZ6L (22q12.1) / PHF3 (6q12)
PHF3 6q12 / EYS 6q12PHF3 6q12 / R3HCC1 8p21.3SACS 13q12.12 / PHF3 6q12

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(6;8)(q12;p21) PHF3/R3HCC1
t(6;13)(q12;q12) SACS/PHF3


External links

Nomenclature
HGNC (Hugo)PHF3   8921
Cards
Entrez_Gene (NCBI)PHF3  23469  PHD finger protein 3
Aliases
GeneCards (Weizmann)PHF3
Ensembl hg19 (Hinxton)ENSG00000118482 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000118482 [Gene_View]  ENSG00000118482 [Sequence]  chr6:63646526-63715522 [Contig_View]  PHF3 [Vega]
ICGC DataPortalENSG00000118482
TCGA cBioPortalPHF3
AceView (NCBI)PHF3
Genatlas (Paris)PHF3
WikiGenes23469
SOURCE (Princeton)PHF3
Genetics Home Reference (NIH)PHF3
Genomic and cartography
GoldenPath hg38 (UCSC)PHF3  -     chr6:63646526-63715522 +  6q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHF3  -     6q12   [Description]    (hg19-Feb_2009)
EnsemblPHF3 - 6q12 [CytoView hg19]  PHF3 - 6q12 [CytoView hg38]
Mapping of homologs : NCBIPHF3 [Mapview hg19]  PHF3 [Mapview hg38]
OMIM607789   
Gene and transcription
Genbank (Entrez)AF091622 AK025283 AK026492 AK055678 AK290491
RefSeq transcript (Entrez)NM_001290259 NM_001290260 NM_015153
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHF3
Cluster EST : UnigeneHs.731957 [ NCBI ]
CGAP (NCI)Hs.731957
Alternative Splicing GalleryENSG00000118482
Gene ExpressionPHF3 [ NCBI-GEO ]   PHF3 [ EBI - ARRAY_EXPRESS ]   PHF3 [ SEEK ]   PHF3 [ MEM ]
Gene Expression Viewer (FireBrowse)PHF3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23469
GTEX Portal (Tissue expression)PHF3
Human Protein AtlasENSG00000118482-PHF3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92576   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92576  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92576
Splice isoforms : SwissVarQ92576
PhosPhoSitePlusQ92576
Domaine pattern : Prosite (Expaxy)TFIIS_CENTRAL (PS51321)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
Domains : Interpro (EBI)SPOC_C    TFIIS_cen_dom    TFIIS_cen_dom_sf    Zinc_finger_PHD-type_CS    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)PHD (PF00628)    SPOC (PF07744)    TFIIS_M (PF07500)   
Domain families : Pfam (NCBI)pfam00628    pfam07744    pfam07500   
Domain families : Smart (EMBL)PHD (SM00249)  TFS2M (SM00510)  
Conserved Domain (NCBI)PHF3
DMDM Disease mutations23469
Blocks (Seattle)PHF3
PDB (SRS)2DME   
PDB (PDBSum)2DME   
PDB (IMB)2DME   
PDB (RSDB)2DME   
Structural Biology KnowledgeBase2DME   
SCOP (Structural Classification of Proteins)2DME   
CATH (Classification of proteins structures)2DME   
SuperfamilyQ92576
Human Protein Atlas [tissue]ENSG00000118482-PHF3 [tissue]
Peptide AtlasQ92576
HPRD08477
IPIIPI00170770   IPI00847550   IPI00965957   IPI00966234   IPI00966918   IPI00984758   IPI01008831   IPI00966511   IPI00966805   IPI00966236   
Protein Interaction databases
DIP (DOE-UCLA)Q92576
IntAct (EBI)Q92576
FunCoupENSG00000118482
BioGRIDPHF3
STRING (EMBL)PHF3
ZODIACPHF3
Ontologies - Pathways
QuickGOQ92576
Ontology : AmiGOmolecular_function  cellular_component  transcription, DNA-templated  multicellular organism development  metal ion binding  
Ontology : EGO-EBImolecular_function  cellular_component  transcription, DNA-templated  multicellular organism development  metal ion binding  
NDEx NetworkPHF3
Atlas of Cancer Signalling NetworkPHF3
Wikipedia pathwaysPHF3
Orthology - Evolution
OrthoDB23469
GeneTree (enSembl)ENSG00000118482
Phylogenetic Trees/Animal Genes : TreeFamPHF3
HOVERGENQ92576
HOGENOMQ92576
Homologs : HomoloGenePHF3
Homology/Alignments : Family Browser (UCSC)PHF3
Gene fusions - Rearrangements
Fusion : MitelmanPHF3/R3HCC1 [6q12/8p21.3]  
Fusion : MitelmanSACS/PHF3 [13q12.12/6q12]  [t(6;13)(q12;q12)]  
Fusion PortalPHF3 6q12 EYS 6q12 BRCA
Fusion PortalPHF3 6q12 R3HCC1 8p21.3 PRAD
Fusion PortalSACS 13q12.12 PHF3 6q12 HNSC
Fusion : QuiverPHF3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHF3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHF3
dbVarPHF3
ClinVarPHF3
1000_GenomesPHF3 
Exome Variant ServerPHF3
ExAC (Exome Aggregation Consortium)ENSG00000118482
GNOMAD BrowserENSG00000118482
Varsome BrowserPHF3
Genetic variants : HAPMAP23469
Genomic Variants (DGV)PHF3 [DGVbeta]
DECIPHERPHF3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHF3 
Mutations
ICGC Data PortalPHF3 
TCGA Data PortalPHF3 
Broad Tumor PortalPHF3
OASIS PortalPHF3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHF3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPHF3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PHF3
DgiDB (Drug Gene Interaction Database)PHF3
DoCM (Curated mutations)PHF3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHF3 (select a term)
intoGenPHF3
Cancer3DPHF3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607789   
Orphanet
DisGeNETPHF3
MedgenPHF3
Genetic Testing Registry PHF3
NextProtQ92576 [Medical]
TSGene23469
GENETestsPHF3
Target ValidationPHF3
Huge Navigator PHF3 [HugePedia]
snp3D : Map Gene to Disease23469
BioCentury BCIQPHF3
ClinGenPHF3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23469
Chemical/Pharm GKB GenePA33261
Clinical trialPHF3
Miscellaneous
canSAR (ICR)PHF3 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHF3
EVEXPHF3
GoPubMedPHF3
iHOPPHF3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:29:46 CET 2018

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