Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PHF5A (PHD finger protein 5A)

Identity

Alias_symbol (synonym)MGC1346
SF3b14b
INI
bK223H9.2
Rds3
SAP14b
SF3B7
Other alias
HGNC (Hugo) PHF5A
LocusID (NCBI) 84844
Atlas_Id 71885
Location 22q13.2  [Link to chromosome band 22q13]
Location_base_pair Starts at 41459717 and ends at 41468704 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)
JUND (19p13.11) / PHF5A (22q13.2)

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)PHF5A   18000
Cards
Entrez_Gene (NCBI)PHF5A  84844  PHD finger protein 5A
AliasesINI; Rds3; SAP14b; SF3B7; 
SF3b14b; bK223H9.2
GeneCards (Weizmann)PHF5A
Ensembl hg19 (Hinxton)ENSG00000100410 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100410 [Gene_View]  chr22:41459717-41468704 [Contig_View]  PHF5A [Vega]
ICGC DataPortalENSG00000100410
TCGA cBioPortalPHF5A
AceView (NCBI)PHF5A
Genatlas (Paris)PHF5A
WikiGenes84844
SOURCE (Princeton)PHF5A
Genetics Home Reference (NIH)PHF5A
Genomic and cartography
GoldenPath hg38 (UCSC)PHF5A  -     chr22:41459717-41468704 -  22q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHF5A  -     22q13.2   [Description]    (hg19-Feb_2009)
EnsemblPHF5A - 22q13.2 [CytoView hg19]  PHF5A - 22q13.2 [CytoView hg38]
Mapping of homologs : NCBIPHF5A [Mapview hg19]  PHF5A [Mapview hg38]
Gene and transcription
Genbank (Entrez)BC007321 BC075808 BK000563 BU584712 CR456398
RefSeq transcript (Entrez)NM_032758
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHF5A
Cluster EST : UnigeneHs.707800 [ NCBI ]
CGAP (NCI)Hs.707800
Alternative Splicing GalleryENSG00000100410
Gene ExpressionPHF5A [ NCBI-GEO ]   PHF5A [ EBI - ARRAY_EXPRESS ]   PHF5A [ SEEK ]   PHF5A [ MEM ]
Gene Expression Viewer (FireBrowse)PHF5A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84844
GTEX Portal (Tissue expression)PHF5A
Human Protein AtlasENSG00000100410-PHF5A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7RTV0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7RTV0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7RTV0
Splice isoforms : SwissVarQ7RTV0
PhosPhoSitePlusQ7RTV0
Domains : Interpro (EBI)PHF5   
Domain families : Pfam (Sanger)PHF5 (PF03660)   
Domain families : Pfam (NCBI)pfam03660   
Conserved Domain (NCBI)PHF5A
DMDM Disease mutations84844
Blocks (Seattle)PHF5A
PDB (SRS)5IFE    5SYB   
PDB (PDBSum)5IFE    5SYB   
PDB (IMB)5IFE    5SYB   
PDB (RSDB)5IFE    5SYB   
Structural Biology KnowledgeBase5IFE    5SYB   
SCOP (Structural Classification of Proteins)5IFE    5SYB   
CATH (Classification of proteins structures)5IFE    5SYB   
SuperfamilyQ7RTV0
Human Protein Atlas [tissue]ENSG00000100410-PHF5A [tissue]
Peptide AtlasQ7RTV0
HPRD15126
IPIIPI00005511   
Protein Interaction databases
DIP (DOE-UCLA)Q7RTV0
IntAct (EBI)Q7RTV0
FunCoupENSG00000100410
BioGRIDPHF5A
STRING (EMBL)PHF5A
ZODIACPHF5A
Ontologies - Pathways
QuickGOQ7RTV0
Ontology : AmiGOmRNA splicing, via spliceosome  mRNA splicing, via spliceosome  DNA binding  transcription factor activity, sequence-specific DNA binding  RNA binding  nucleoplasm  U2 snRNP  U12-type spliceosomal complex  transcription, DNA-templated  nuclear matrix  nuclear speck  positive regulation of transcription, DNA-templated  precatalytic spliceosome  catalytic step 2 spliceosome  
Ontology : EGO-EBImRNA splicing, via spliceosome  mRNA splicing, via spliceosome  DNA binding  transcription factor activity, sequence-specific DNA binding  RNA binding  nucleoplasm  U2 snRNP  U12-type spliceosomal complex  transcription, DNA-templated  nuclear matrix  nuclear speck  positive regulation of transcription, DNA-templated  precatalytic spliceosome  catalytic step 2 spliceosome  
Pathways : KEGGSpliceosome   
NDEx NetworkPHF5A
Atlas of Cancer Signalling NetworkPHF5A
Wikipedia pathwaysPHF5A
Orthology - Evolution
OrthoDB84844
GeneTree (enSembl)ENSG00000100410
Phylogenetic Trees/Animal Genes : TreeFamPHF5A
HOVERGENQ7RTV0
HOGENOMQ7RTV0
Homologs : HomoloGenePHF5A
Homology/Alignments : Family Browser (UCSC)PHF5A
Gene fusions - Rearrangements
Tumor Fusion PortalPHF5A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHF5A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHF5A
dbVarPHF5A
ClinVarPHF5A
1000_GenomesPHF5A 
Exome Variant ServerPHF5A
ExAC (Exome Aggregation Consortium)ENSG00000100410
GNOMAD BrowserENSG00000100410
Genetic variants : HAPMAP84844
Genomic Variants (DGV)PHF5A [DGVbeta]
DECIPHERPHF5A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHF5A 
Mutations
ICGC Data PortalPHF5A 
TCGA Data PortalPHF5A 
Broad Tumor PortalPHF5A
OASIS PortalPHF5A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHF5A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPHF5A
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 PHF5A
DgiDB (Drug Gene Interaction Database)PHF5A
DoCM (Curated mutations)PHF5A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHF5A (select a term)
intoGenPHF5A
Cancer3DPHF5A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETPHF5A
MedgenPHF5A
Genetic Testing Registry PHF5A
NextProtQ7RTV0 [Medical]
TSGene84844
GENETestsPHF5A
Target ValidationPHF5A
Huge Navigator PHF5A [HugePedia]
snp3D : Map Gene to Disease84844
BioCentury BCIQPHF5A
ClinGenPHF5A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84844
Chemical/Pharm GKB GenePA134876104
Clinical trialPHF5A
Miscellaneous
canSAR (ICR)PHF5A (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHF5A
EVEXPHF5A
GoPubMedPHF5A
iHOPPHF5A
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 21 13:44:08 CET 2017

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