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PHETA1 (PH domain containing endocytic trafficking adaptor 1)

Identity

Alias (NCBI)FAM109A
IPIP27A
SES1
HGNC (Hugo) PHETA1
LocusID (NCBI) 144717
Atlas_Id 80560
Location 12q24.12  [Link to chromosome band 12q24]
Location_base_pair Starts at 111360651 and ends at 111369121 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)
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



External links

Nomenclature
HGNC (Hugo)PHETA1   26509
Cards
Entrez_Gene (NCBI)PHETA1    PH domain containing endocytic trafficking adaptor 1
AliasesFAM109A; IPIP27A; SES1
GeneCards (Weizmann)PHETA1
Ensembl hg19 (Hinxton)ENSG00000198324 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198324 [Gene_View]  ENSG00000198324 [Sequence]  chr12:111360651-111369121 [Contig_View]  PHETA1 [Vega]
ICGC DataPortalENSG00000198324
TCGA cBioPortalPHETA1
AceView (NCBI)PHETA1
Genatlas (Paris)PHETA1
SOURCE (Princeton)PHETA1
Genetics Home Reference (NIH)PHETA1
Genomic and cartography
GoldenPath hg38 (UCSC)PHETA1  -     chr12:111360651-111369121 -  12q24.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHETA1  -     12q24.12   [Description]    (hg19-Feb_2009)
GoldenPathPHETA1 - 12q24.12 [CytoView hg19]  PHETA1 - 12q24.12 [CytoView hg38]
ImmunoBaseENSG00000198324
genome Data Viewer NCBIPHETA1 [Mapview hg19]  
OMIM614239   
Gene and transcription
Genbank (Entrez)AK056918 AK093052 AK299344 BC014091 BC018996
RefSeq transcript (Entrez)NM_001177996 NM_001177997 NM_144671
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHETA1
Alternative Splicing GalleryENSG00000198324
Gene ExpressionPHETA1 [ NCBI-GEO ]   PHETA1 [ EBI - ARRAY_EXPRESS ]   PHETA1 [ SEEK ]   PHETA1 [ MEM ]
Gene Expression Viewer (FireBrowse)PHETA1 [ Firebrowse - Broad ]
GenevisibleExpression of PHETA1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)144717
GTEX Portal (Tissue expression)PHETA1
Human Protein AtlasENSG00000198324-PHETA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N4B1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N4B1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N4B1
Splice isoforms : SwissVarQ8N4B1
PhosPhoSitePlusQ8N4B1
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)PH-like_dom_sf    PH_domain   
Domain families : Pfam (Sanger)PH (PF00169)   
Domain families : Pfam (NCBI)pfam00169   
Domain families : Smart (EMBL)PH (SM00233)  
Conserved Domain (NCBI)PHETA1
Blocks (Seattle)PHETA1
PDB (RSDB)3QIS   
PDB Europe3QIS   
PDB (PDBSum)3QIS   
PDB (IMB)3QIS   
Structural Biology KnowledgeBase3QIS   
SCOP (Structural Classification of Proteins)3QIS   
CATH (Classification of proteins structures)3QIS   
SuperfamilyQ8N4B1
Human Protein Atlas [tissue]ENSG00000198324-PHETA1 [tissue]
Peptide AtlasQ8N4B1
IPIIPI00171062   IPI00789570   IPI00789670   IPI01022762   IPI01023047   IPI01021892   IPI00167935   IPI00965252   
Protein Interaction databases
DIP (DOE-UCLA)Q8N4B1
IntAct (EBI)Q8N4B1
BioGRIDPHETA1
STRING (EMBL)PHETA1
ZODIACPHETA1
Ontologies - Pathways
QuickGOQ8N4B1
Ontology : AmiGOreceptor recycling  receptor recycling  protein binding  early endosome  early endosome  trans-Golgi network  trans-Golgi network  cytosol  endosome organization  endosome organization  clathrin-coated vesicle  retrograde transport, endosome to Golgi  retrograde transport, endosome to Golgi  protein homodimerization activity  recycling endosome  recycling endosome  
Ontology : EGO-EBIreceptor recycling  receptor recycling  protein binding  early endosome  early endosome  trans-Golgi network  trans-Golgi network  cytosol  endosome organization  endosome organization  clathrin-coated vesicle  retrograde transport, endosome to Golgi  retrograde transport, endosome to Golgi  protein homodimerization activity  recycling endosome  recycling endosome  
NDEx NetworkPHETA1
Atlas of Cancer Signalling NetworkPHETA1
Wikipedia pathwaysPHETA1
Orthology - Evolution
OrthoDB144717
GeneTree (enSembl)ENSG00000198324
Phylogenetic Trees/Animal Genes : TreeFamPHETA1
HOGENOMQ8N4B1
Homologs : HomoloGenePHETA1
Homology/Alignments : Family Browser (UCSC)PHETA1
Gene fusions - Rearrangements
Fusion : QuiverPHETA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHETA1 [hg38]
dbVarPHETA1
ClinVarPHETA1
MonarchPHETA1
1000_GenomesPHETA1 
Exome Variant ServerPHETA1
GNOMAD BrowserENSG00000198324
Varsome BrowserPHETA1
Genomic Variants (DGV)PHETA1 [DGVbeta]
DECIPHERPHETA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHETA1 
Mutations
ICGC Data PortalPHETA1 
TCGA Data PortalPHETA1 
Broad Tumor PortalPHETA1
OASIS PortalPHETA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHETA1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPHETA1
Mutations and Diseases : HGMDPHETA1
BioMutasearch PHETA1
DgiDB (Drug Gene Interaction Database)PHETA1
DoCM (Curated mutations)PHETA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHETA1 (select a term)
intoGenPHETA1
Cancer3DPHETA1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614239   
Orphanet
DisGeNETPHETA1
MedgenPHETA1
Genetic Testing Registry PHETA1
NextProtQ8N4B1 [Medical]
GENETestsPHETA1
Target ValidationPHETA1
Huge Navigator PHETA1 [HugePedia]
ClinGenPHETA1
Clinical trials, drugs, therapy
MyCancerGenomePHETA1
Protein Interactions : CTD
Pharm GKB GenePA143485466
Clinical trialPHETA1
Miscellaneous
canSAR (ICR)PHETA1 (select the gene name)
HarmonizomePHETA1
DataMed IndexPHETA1
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHETA1
EVEXPHETA1
GoPubMedPHETA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 17:22:26 CET 2020

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