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PHACTR3 (phosphatase and actin regulator 3)

Identity

Alias_namesregulatory subunit 123
C20orf101
Alias_symbol (synonym)PPP1R123
Other aliasH17739
SCAPIN1
SCAPININ
HGNC (Hugo) PHACTR3
LocusID (NCBI) 116154
Atlas_Id 51442
Location 20q13.32  [Link to chromosome band 20q13]
Location_base_pair Starts at 59577509 and ends at 59847711 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)
ACSS1 (20p11.21) / PHACTR3 (20q13.32)GIMAP1-GIMAP5 (7q36.1) / PHACTR3 (20q13.32)LDLRAD4 (18p11.21) / PHACTR3 (20q13.32)
PHACTR3 (20q13.32) / IGDCC4 (15q22.31)PHACTR3 (20q13.32) / PTPRM (18p11.23)RAB22A (20q13.32) / PHACTR3 (20q13.32)
ACSS1 20p11.21 / PHACTR3 20q13.32

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) [ 1 ]
  Lung: Translocations in Adenocarcinoma


External links

Nomenclature
HGNC (Hugo)PHACTR3   15833
Cards
Entrez_Gene (NCBI)PHACTR3  116154  phosphatase and actin regulator 3
AliasesC20orf101; H17739; PPP1R123; SCAPIN1; 
SCAPININ
GeneCards (Weizmann)PHACTR3
Ensembl hg19 (Hinxton)ENSG00000087495 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000087495 [Gene_View]  chr20:59577509-59847711 [Contig_View]  PHACTR3 [Vega]
ICGC DataPortalENSG00000087495
TCGA cBioPortalPHACTR3
AceView (NCBI)PHACTR3
Genatlas (Paris)PHACTR3
WikiGenes116154
SOURCE (Princeton)PHACTR3
Genetics Home Reference (NIH)PHACTR3
Genomic and cartography
GoldenPath hg38 (UCSC)PHACTR3  -     chr20:59577509-59847711 +  20q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHACTR3  -     20q13.32   [Description]    (hg19-Feb_2009)
EnsemblPHACTR3 - 20q13.32 [CytoView hg19]  PHACTR3 - 20q13.32 [CytoView hg38]
Mapping of homologs : NCBIPHACTR3 [Mapview hg19]  PHACTR3 [Mapview hg38]
OMIM608725   
Gene and transcription
Genbank (Entrez)AB098521 AB098522 AJ311122 AJ617581 AK090812
RefSeq transcript (Entrez)NM_001199505 NM_001199506 NM_001281507 NM_080672 NM_183244 NM_183246
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHACTR3
Cluster EST : UnigeneHs.473218 [ NCBI ]
CGAP (NCI)Hs.473218
Alternative Splicing GalleryENSG00000087495
Gene ExpressionPHACTR3 [ NCBI-GEO ]   PHACTR3 [ EBI - ARRAY_EXPRESS ]   PHACTR3 [ SEEK ]   PHACTR3 [ MEM ]
Gene Expression Viewer (FireBrowse)PHACTR3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)116154
GTEX Portal (Tissue expression)PHACTR3
Human Protein AtlasENSG00000087495-PHACTR3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96KR7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96KR7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96KR7
Splice isoforms : SwissVarQ96KR7
PhosPhoSitePlusQ96KR7
Domaine pattern : Prosite (Expaxy)RPEL (PS51073)   
Domains : Interpro (EBI)Phactr3    RPEL_repeat   
Domain families : Pfam (Sanger)RPEL (PF02755)   
Domain families : Pfam (NCBI)pfam02755   
Domain families : Smart (EMBL)RPEL (SM00707)  
Conserved Domain (NCBI)PHACTR3
DMDM Disease mutations116154
Blocks (Seattle)PHACTR3
SuperfamilyQ96KR7
Human Protein Atlas [tissue]ENSG00000087495-PHACTR3 [tissue]
Peptide AtlasQ96KR7
HPRD10571
IPIIPI00064745   IPI00793519   IPI00377257   IPI00377256   IPI00796100   
Protein Interaction databases
DIP (DOE-UCLA)Q96KR7
IntAct (EBI)Q96KR7
FunCoupENSG00000087495
BioGRIDPHACTR3
STRING (EMBL)PHACTR3
ZODIACPHACTR3
Ontologies - Pathways
QuickGOQ96KR7
Ontology : AmiGOactin binding  protein phosphatase inhibitor activity  nucleoplasm  protein phosphatase 1 binding  nuclear matrix  negative regulation of catalytic activity  
Ontology : EGO-EBIactin binding  protein phosphatase inhibitor activity  nucleoplasm  protein phosphatase 1 binding  nuclear matrix  negative regulation of catalytic activity  
NDEx NetworkPHACTR3
Atlas of Cancer Signalling NetworkPHACTR3
Wikipedia pathwaysPHACTR3
Orthology - Evolution
OrthoDB116154
GeneTree (enSembl)ENSG00000087495
Phylogenetic Trees/Animal Genes : TreeFamPHACTR3
HOVERGENQ96KR7
HOGENOMQ96KR7
Homologs : HomoloGenePHACTR3
Homology/Alignments : Family Browser (UCSC)PHACTR3
Gene fusions - Rearrangements
Fusion : MitelmanACSS1/PHACTR3 [20p11.21/20q13.32]  [t(20;20)(p11;q13)]  
Fusion : MitelmanPHACTR3/PTPRM [20q13.32/18p11.23]  [t(18;20)(p11;q13)]  
Fusion: TCGA_MDACCACSS1 20p11.21 PHACTR3 20q13.32 BRCA
Tumor Fusion PortalPHACTR3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHACTR3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHACTR3
dbVarPHACTR3
ClinVarPHACTR3
1000_GenomesPHACTR3 
Exome Variant ServerPHACTR3
ExAC (Exome Aggregation Consortium)ENSG00000087495
GNOMAD BrowserENSG00000087495
Genetic variants : HAPMAP116154
Genomic Variants (DGV)PHACTR3 [DGVbeta]
DECIPHERPHACTR3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHACTR3 
Mutations
ICGC Data PortalPHACTR3 
TCGA Data PortalPHACTR3 
Broad Tumor PortalPHACTR3
OASIS PortalPHACTR3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHACTR3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPHACTR3
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 PHACTR3
DgiDB (Drug Gene Interaction Database)PHACTR3
DoCM (Curated mutations)PHACTR3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHACTR3 (select a term)
intoGenPHACTR3
Cancer3DPHACTR3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608725   
Orphanet
DisGeNETPHACTR3
MedgenPHACTR3
Genetic Testing Registry PHACTR3
NextProtQ96KR7 [Medical]
TSGene116154
GENETestsPHACTR3
Target ValidationPHACTR3
Huge Navigator PHACTR3 [HugePedia]
snp3D : Map Gene to Disease116154
BioCentury BCIQPHACTR3
ClinGenPHACTR3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD116154
Chemical/Pharm GKB GenePA128394750
Clinical trialPHACTR3
Miscellaneous
canSAR (ICR)PHACTR3 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHACTR3
EVEXPHACTR3
GoPubMedPHACTR3
iHOPPHACTR3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:28:33 CET 2017

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