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AP5S1 (adaptor related protein complex 5 sigma 1 subunit)

Identity

Alias_namesC20orf29
chromosome 20 open reading frame 29
adaptor-related protein complex 5, sigma 1 subunit
Alias_symbol (synonym)FLJ11168
Other alias
HGNC (Hugo) AP5S1
LocusID (NCBI) 55317
Atlas_Id 43049
Location 20p13  [Link to chromosome band 20p13]
Location_base_pair Starts at 3820524 and ends at 3825307 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AP5S1 (20p13) / MAVS (20p13)AP5S1 (20p13) / RNF24 (20p13)

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)AP5S1   15875
Cards
Entrez_Gene (NCBI)AP5S1  55317  adaptor related protein complex 5 sigma 1 subunit
AliasesC20orf29
GeneCards (Weizmann)AP5S1
Ensembl hg19 (Hinxton)ENSG00000125843 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125843 [Gene_View]  chr20:3820524-3825307 [Contig_View]  AP5S1 [Vega]
ICGC DataPortalENSG00000125843
TCGA cBioPortalAP5S1
AceView (NCBI)AP5S1
Genatlas (Paris)AP5S1
WikiGenes55317
SOURCE (Princeton)AP5S1
Genetics Home Reference (NIH)AP5S1
Genomic and cartography
GoldenPath hg38 (UCSC)AP5S1  -     chr20:3820524-3825307 +  20p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AP5S1  -     20p13   [Description]    (hg19-Feb_2009)
EnsemblAP5S1 - 20p13 [CytoView hg19]  AP5S1 - 20p13 [CytoView hg38]
Mapping of homologs : NCBIAP5S1 [Mapview hg19]  AP5S1 [Mapview hg38]
OMIM614824   
Gene and transcription
Genbank (Entrez)AI338486 AK002030 AK093332 BC011985 BC043344
RefSeq transcript (Entrez)NM_001204446 NM_001204447 NM_018347
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AP5S1
Cluster EST : UnigeneHs.104806 [ NCBI ]
CGAP (NCI)Hs.104806
Alternative Splicing GalleryENSG00000125843
Gene ExpressionAP5S1 [ NCBI-GEO ]   AP5S1 [ EBI - ARRAY_EXPRESS ]   AP5S1 [ SEEK ]   AP5S1 [ MEM ]
Gene Expression Viewer (FireBrowse)AP5S1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55317
GTEX Portal (Tissue expression)AP5S1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NUS5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NUS5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NUS5
Splice isoforms : SwissVarQ9NUS5
PhosPhoSitePlusQ9NUS5
Domains : Interpro (EBI)AP-5_subunit_s1   
Domain families : Pfam (Sanger)AP-5_subunit_s1 (PF15001)   
Domain families : Pfam (NCBI)pfam15001   
Conserved Domain (NCBI)AP5S1
DMDM Disease mutations55317
Blocks (Seattle)AP5S1
SuperfamilyQ9NUS5
Human Protein AtlasENSG00000125843
Peptide AtlasQ9NUS5
HPRD16649
IPIIPI00019941   IPI00647730   IPI00789900   
Protein Interaction databases
DIP (DOE-UCLA)Q9NUS5
IntAct (EBI)Q9NUS5
FunCoupENSG00000125843
BioGRIDAP5S1
STRING (EMBL)AP5S1
ZODIACAP5S1
Ontologies - Pathways
QuickGOQ9NUS5
Ontology : AmiGOdouble-strand break repair via homologous recombination  protein binding  nucleoplasm  lysosome  lysosomal membrane  late endosome  cytosol  plasma membrane  protein transport  endosomal transport  AP-type membrane coat adaptor complex  late endosome membrane  
Ontology : EGO-EBIdouble-strand break repair via homologous recombination  protein binding  nucleoplasm  lysosome  lysosomal membrane  late endosome  cytosol  plasma membrane  protein transport  endosomal transport  AP-type membrane coat adaptor complex  late endosome membrane  
NDEx NetworkAP5S1
Atlas of Cancer Signalling NetworkAP5S1
Wikipedia pathwaysAP5S1
Orthology - Evolution
OrthoDB55317
GeneTree (enSembl)ENSG00000125843
Phylogenetic Trees/Animal Genes : TreeFamAP5S1
HOVERGENQ9NUS5
HOGENOMQ9NUS5
Homologs : HomoloGeneAP5S1
Homology/Alignments : Family Browser (UCSC)AP5S1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP5S1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP5S1
dbVarAP5S1
ClinVarAP5S1
1000_GenomesAP5S1 
Exome Variant ServerAP5S1
ExAC (Exome Aggregation Consortium)AP5S1 (select the gene name)
Genetic variants : HAPMAP55317
Genomic Variants (DGV)AP5S1 [DGVbeta]
DECIPHERAP5S1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAP5S1 
Mutations
ICGC Data PortalAP5S1 
TCGA Data PortalAP5S1 
Broad Tumor PortalAP5S1
OASIS PortalAP5S1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDAP5S1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AP5S1
DgiDB (Drug Gene Interaction Database)AP5S1
DoCM (Curated mutations)AP5S1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AP5S1 (select a term)
intoGenAP5S1
Cancer3DAP5S1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614824   
Orphanet
MedgenAP5S1
Genetic Testing Registry AP5S1
NextProtQ9NUS5 [Medical]
TSGene55317
GENETestsAP5S1
Target ValidationAP5S1
Huge Navigator AP5S1 [HugePedia]
snp3D : Map Gene to Disease55317
BioCentury BCIQAP5S1
ClinGenAP5S1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55317
Chemical/Pharm GKB GenePA25744
Clinical trialAP5S1
Miscellaneous
canSAR (ICR)AP5S1 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAP5S1
EVEXAP5S1
GoPubMedAP5S1
iHOPAP5S1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:23:56 CEST 2017

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