Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PHF6 (PHD finger protein 6)

Identity

Alias_namesBFLS
BORJ
Borjeson-Forssman-Lehmann syndrome
Alias_symbol (synonym)KIAA1823
MGC14797
CENP-31
Other alias
HGNC (Hugo) PHF6
LocusID (NCBI) 84295
Atlas_Id 51483
Location Xq26.2  [Link to chromosome band Xq26]
Location_base_pair Starts at 134373312 and ends at 134428792 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)
PHF6 (Xq26.2) / STX12 (1p35.3)

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  Pediatric T-Cell Acute Lymphoblastic Leukemia

External links

Nomenclature
HGNC (Hugo)PHF6   18145
LRG (Locus Reference Genomic)LRG_629
Cards
Entrez_Gene (NCBI)PHF6  84295  PHD finger protein 6
AliasesBFLS; BORJ; CENP-31
GeneCards (Weizmann)PHF6
Ensembl hg19 (Hinxton)ENSG00000156531 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000156531 [Gene_View]  ENSG00000156531 [Sequence]  chrX:134373312-134428792 [Contig_View]  PHF6 [Vega]
ICGC DataPortalENSG00000156531
TCGA cBioPortalPHF6
AceView (NCBI)PHF6
Genatlas (Paris)PHF6
WikiGenes84295
SOURCE (Princeton)PHF6
Genetics Home Reference (NIH)PHF6
Genomic and cartography
GoldenPath hg38 (UCSC)PHF6  -     chrX:134373312-134428792 +  Xq26.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHF6  -     Xq26.2   [Description]    (hg19-Feb_2009)
GoldenPathPHF6 - Xq26.2 [CytoView hg19]  PHF6 - Xq26.2 [CytoView hg38]
ImmunoBaseENSG00000156531
Mapping of homologs : NCBIPHF6 [Mapview hg19]  PHF6 [Mapview hg38]
OMIM300414   301900   
Gene and transcription
Genbank (Entrez)AB058726 AK290095 AK303369 AK303647 AL832725
RefSeq transcript (Entrez)NM_001015877 NM_032335 NM_032458
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHF6
Cluster EST : UnigeneHs.356501 [ NCBI ]
CGAP (NCI)Hs.356501
Alternative Splicing GalleryENSG00000156531
Gene ExpressionPHF6 [ NCBI-GEO ]   PHF6 [ EBI - ARRAY_EXPRESS ]   PHF6 [ SEEK ]   PHF6 [ MEM ]
Gene Expression Viewer (FireBrowse)PHF6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84295
GTEX Portal (Tissue expression)PHF6
Human Protein AtlasENSG00000156531-PHF6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IWS0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IWS0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IWS0
Splice isoforms : SwissVarQ8IWS0
PhosPhoSitePlusQ8IWS0
Domaine pattern : Prosite (Expaxy)EPHD (PS51805)   
Domains : Interpro (EBI)EPHD    Znf_PHD    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)PHD (SM00249)  
Conserved Domain (NCBI)PHF6
DMDM Disease mutations84295
Blocks (Seattle)PHF6
PDB (RSDB)4NN2    4R7A   
PDB Europe4NN2    4R7A   
PDB (PDBSum)4NN2    4R7A   
PDB (IMB)4NN2    4R7A   
Structural Biology KnowledgeBase4NN2    4R7A   
SCOP (Structural Classification of Proteins)4NN2    4R7A   
CATH (Classification of proteins structures)4NN2    4R7A   
SuperfamilyQ8IWS0
Human Protein Atlas [tissue]ENSG00000156531-PHF6 [tissue]
Peptide AtlasQ8IWS0
HPRD02330
IPIIPI00395568   IPI00397700   IPI00939291   IPI00552149   
Protein Interaction databases
DIP (DOE-UCLA)Q8IWS0
IntAct (EBI)Q8IWS0
FunCoupENSG00000156531
BioGRIDPHF6
STRING (EMBL)PHF6
ZODIACPHF6
Ontologies - Pathways
QuickGOQ8IWS0
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  condensed chromosome kinetochore  DNA-binding transcription repressor activity, RNA polymerase II-specific  blastocyst hatching  RNA binding  protein binding  nucleus  nucleoplasm  nucleolus  tubulin binding  enzyme binding  histone binding  histone deacetylase binding  ribonucleoprotein complex binding  sequence-specific DNA binding  metal ion binding  phosphoprotein binding  scaffold protein binding  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  condensed chromosome kinetochore  DNA-binding transcription repressor activity, RNA polymerase II-specific  blastocyst hatching  RNA binding  protein binding  nucleus  nucleoplasm  nucleolus  tubulin binding  enzyme binding  histone binding  histone deacetylase binding  ribonucleoprotein complex binding  sequence-specific DNA binding  metal ion binding  phosphoprotein binding  scaffold protein binding  
NDEx NetworkPHF6
Atlas of Cancer Signalling NetworkPHF6
Wikipedia pathwaysPHF6
Orthology - Evolution
OrthoDB84295
GeneTree (enSembl)ENSG00000156531
Phylogenetic Trees/Animal Genes : TreeFamPHF6
HOGENOMQ8IWS0
Homologs : HomoloGenePHF6
Homology/Alignments : Family Browser (UCSC)PHF6
Gene fusions - Rearrangements
Fusion : QuiverPHF6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHF6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHF6
dbVarPHF6
ClinVarPHF6
1000_GenomesPHF6 
Exome Variant ServerPHF6
ExAC (Exome Aggregation Consortium)ENSG00000156531
GNOMAD BrowserENSG00000156531
Varsome BrowserPHF6
Genetic variants : HAPMAP84295
Genomic Variants (DGV)PHF6 [DGVbeta]
DECIPHERPHF6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHF6 
Mutations
ICGC Data PortalPHF6 
TCGA Data PortalPHF6 
Broad Tumor PortalPHF6
OASIS PortalPHF6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHF6  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPHF6
Mutations and Diseases : HGMDPHF6
intOGen PortalPHF6
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 PHF6
DgiDB (Drug Gene Interaction Database)PHF6
DoCM (Curated mutations)PHF6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHF6 (select a term)
intoGenPHF6
Cancer3DPHF6(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300414    301900   
Orphanet1502   
DisGeNETPHF6
MedgenPHF6
Genetic Testing Registry PHF6
NextProtQ8IWS0 [Medical]
TSGene84295
GENETestsPHF6
Target ValidationPHF6
Huge Navigator PHF6 [HugePedia]
snp3D : Map Gene to Disease84295
BioCentury BCIQPHF6
ClinGenPHF6 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84295
Chemical/Pharm GKB GenePA33263
Clinical trialPHF6
Miscellaneous
canSAR (ICR)PHF6 (select the gene name)
DataMed IndexPHF6
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHF6
EVEXPHF6
GoPubMedPHF6
iHOPPHF6
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 : Wed Nov 13 18:00:41 CET 2019
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