Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PHF8 (PHD finger protein 8)

Identity

Alias_symbol (synonym)ZNF422
KIAA1111
JHDM1F
Other aliasMRXSSD
HGNC (Hugo) PHF8
LocusID (NCBI) 23133
Atlas_Id 53358
Location Xp11.22  [Link to chromosome band Xp11]
Location_base_pair Starts at 53963113 and ends at 54071569 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HUWE1 (Xp11.22) / PHF8 (Xp11.22)PHF8 (Xp11.22) / BCL11A (2p16.1)PHF8 (Xp11.22) / PHF8 (Xp11.22)
HUWE1 Xp11.22 / PHF8 Xp11.22

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)PHF8   20672
Cards
Entrez_Gene (NCBI)PHF8  23133  PHD finger protein 8
AliasesJHDM1F; MRXSSD; ZNF422
GeneCards (Weizmann)PHF8
Ensembl hg19 (Hinxton)ENSG00000172943 [Gene_View]  chrX:53963113-54071569 [Contig_View]  PHF8 [Vega]
Ensembl hg38 (Hinxton)ENSG00000172943 [Gene_View]  chrX:53963113-54071569 [Contig_View]  PHF8 [Vega]
ICGC DataPortalENSG00000172943
TCGA cBioPortalPHF8
AceView (NCBI)PHF8
Genatlas (Paris)PHF8
WikiGenes23133
SOURCE (Princeton)PHF8
Genetics Home Reference (NIH)PHF8
Genomic and cartography
GoldenPath hg19 (UCSC)PHF8  -     chrX:53963113-54071569 -  Xp11.22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PHF8  -     Xp11.22   [Description]    (hg38-Dec_2013)
EnsemblPHF8 - Xp11.22 [CytoView hg19]  PHF8 - Xp11.22 [CytoView hg38]
Mapping of homologs : NCBIPHF8 [Mapview hg19]  PHF8 [Mapview hg38]
OMIM300263   300560   
Gene and transcription
Genbank (Entrez)AB029034 AF091081 AK021696 AK022788 AK027229
RefSeq transcript (Entrez)NM_001184896 NM_001184897 NM_001184898 NM_015107
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_021309 NT_011630 NW_004929442
Consensus coding sequences : CCDS (NCBI)PHF8
Cluster EST : UnigeneHs.133352 [ NCBI ]
CGAP (NCI)Hs.133352
Alternative Splicing GalleryENSG00000172943
Gene ExpressionPHF8 [ NCBI-GEO ]   PHF8 [ EBI - ARRAY_EXPRESS ]   PHF8 [ SEEK ]   PHF8 [ MEM ]
Gene Expression Viewer (FireBrowse)PHF8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23133
GTEX Portal (Tissue expression)PHF8
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UPP1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UPP1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UPP1
Splice isoforms : SwissVarQ9UPP1
Catalytic activity : Enzyme1.14.11.27 [ Enzyme-Expasy ]   1.14.11.271.14.11.27 [ IntEnz-EBI ]   1.14.11.27 [ BRENDA ]   1.14.11.27 [ KEGG ]   
PhosPhoSitePlusQ9UPP1
Domaine pattern : Prosite (Expaxy)JMJC (PS51184)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
Domains : Interpro (EBI)JmjC_dom    Zinc_finger_PHD-type_CS    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)JmjC (PF02373)    PHD (PF00628)   
Domain families : Pfam (NCBI)pfam02373    pfam00628   
Domain families : Smart (EMBL)JmjC (SM00558)  PHD (SM00249)  
Conserved Domain (NCBI)PHF8
DMDM Disease mutations23133
Blocks (Seattle)PHF8
PDB (SRS)2WWU    3K3N    3K3O    3KV4    4DO0   
PDB (PDBSum)2WWU    3K3N    3K3O    3KV4    4DO0   
PDB (IMB)2WWU    3K3N    3K3O    3KV4    4DO0   
PDB (RSDB)2WWU    3K3N    3K3O    3KV4    4DO0   
Structural Biology KnowledgeBase2WWU    3K3N    3K3O    3KV4    4DO0   
SCOP (Structural Classification of Proteins)2WWU    3K3N    3K3O    3KV4    4DO0   
CATH (Classification of proteins structures)2WWU    3K3N    3K3O    3KV4    4DO0   
SuperfamilyQ9UPP1
Human Protein AtlasENSG00000172943
Peptide AtlasQ9UPP1
HPRD06599
IPIIPI00480187   IPI00430079   IPI00183302   IPI00880119   IPI00292807   IPI00922520   IPI00639896   IPI00645913   IPI00873999   IPI01015855   IPI00879803   IPI00879292   IPI00744123   IPI00878581   
Protein Interaction databases
DIP (DOE-UCLA)Q9UPP1
IntAct (EBI)Q9UPP1
FunCoupENSG00000172943
BioGRIDPHF8
STRING (EMBL)PHF8
ZODIACPHF8
Ontologies - Pathways
QuickGOQ9UPP1
Ontology : AmiGOG1/S transition of mitotic cell cycle  chromatin binding  iron ion binding  protein binding  nucleus  nucleus  nucleoplasm  nucleolus  transcription, DNA-templated  brain development  zinc ion binding  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors  nuclear membrane  histone demethylase activity  histone demethylase activity  histone demethylase activity (H3-K9 specific)  histone H3-K9 demethylation  methylated histone binding  histone H4-K20 demethylation  histone demethylase activity (H4-K20 specific)  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase I promoter  histone demethylase activity (H3-K36 specific)  oxidation-reduction process  negative regulation of chromatin silencing at rDNA  histone H3-K36 demethylation  histone H3-K27 demethylation  histone demethylase activity (H3-K27 specific)  
Ontology : EGO-EBIG1/S transition of mitotic cell cycle  chromatin binding  iron ion binding  protein binding  nucleus  nucleus  nucleoplasm  nucleolus  transcription, DNA-templated  brain development  zinc ion binding  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors  nuclear membrane  histone demethylase activity  histone demethylase activity  histone demethylase activity (H3-K9 specific)  histone H3-K9 demethylation  methylated histone binding  histone H4-K20 demethylation  histone demethylase activity (H4-K20 specific)  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase I promoter  histone demethylase activity (H3-K36 specific)  oxidation-reduction process  negative regulation of chromatin silencing at rDNA  histone H3-K36 demethylation  histone H3-K27 demethylation  histone demethylase activity (H3-K27 specific)  
NDEx NetworkPHF8
Atlas of Cancer Signalling NetworkPHF8
Wikipedia pathwaysPHF8
Orthology - Evolution
OrthoDB23133
GeneTree (enSembl)ENSG00000172943
Phylogenetic Trees/Animal Genes : TreeFamPHF8
HOVERGENQ9UPP1
HOGENOMQ9UPP1
Homologs : HomoloGenePHF8
Homology/Alignments : Family Browser (UCSC)PHF8
Gene fusions - Rearrangements
Fusion : MitelmanHUWE1/PHF8 [Xp11.22/Xp11.22]  [t(X;X)(p11;p11)]  
Fusion: TCGAHUWE1 Xp11.22 PHF8 Xp11.22 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHF8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHF8
dbVarPHF8
ClinVarPHF8
1000_GenomesPHF8 
Exome Variant ServerPHF8
ExAC (Exome Aggregation Consortium)PHF8 (select the gene name)
Genetic variants : HAPMAP23133
Genomic Variants (DGV)PHF8 [DGVbeta]
DECIPHER (Syndromes)X:53963113-54071569  ENSG00000172943
CONAN: Copy Number AnalysisPHF8 
Mutations
ICGC Data PortalPHF8 
TCGA Data PortalPHF8 
Broad Tumor PortalPHF8
OASIS PortalPHF8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHF8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPHF8
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
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch PHF8
DgiDB (Drug Gene Interaction Database)PHF8
DoCM (Curated mutations)PHF8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHF8 (select a term)
intoGenPHF8
Cancer3DPHF8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300263    300560   
Orphanet11677   
MedgenPHF8
Genetic Testing Registry PHF8
NextProtQ9UPP1 [Medical]
TSGene23133
GENETestsPHF8
Huge Navigator PHF8 [HugePedia]
snp3D : Map Gene to Disease23133
BioCentury BCIQPHF8
ClinGenPHF8 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23133
Chemical/Pharm GKB GenePA134889361
Clinical trialPHF8
Miscellaneous
canSAR (ICR)PHF8 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHF8
EVEXPHF8
GoPubMedPHF8
iHOPPHF8
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 : Thu Mar 30 15:14:14 CEST 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.