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HPS3 (HPS3, biogenesis of lysosomal organelles complex 2 subunit 1)

Identity

Alias_namesHermansky-Pudlak syndrome 3
Alias_symbol (synonym)SUTAL
BLOC2S1
Other alias
HGNC (Hugo) HPS3
LocusID (NCBI) 84343
Atlas_Id 64417
Location 3q24  [Link to chromosome band 3q24]
Location_base_pair Starts at 149129584 and ends at 149173196 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ELMOD1 (11q22.3) / HPS3 (3q24)HPS3 (3q24) / CPB1 (3q24)HPS3 (3q24) / JADE1 (4q28.2)
HPS3 (3q24) / RBFOX1 (16p13.3)SERPINF2 (17p13.3) / HPS3 (3q24)SSR1 (6p24.3) / HPS3 (3q24)

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)HPS3   15597
LRG (Locus Reference Genomic)LRG_563
Cards
Entrez_Gene (NCBI)HPS3  84343  HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
AliasesBLOC2S1; SUTAL
GeneCards (Weizmann)HPS3
Ensembl hg19 (Hinxton)ENSG00000163755 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163755 [Gene_View]  chr3:149129584-149173196 [Contig_View]  HPS3 [Vega]
ICGC DataPortalENSG00000163755
TCGA cBioPortalHPS3
AceView (NCBI)HPS3
Genatlas (Paris)HPS3
WikiGenes84343
SOURCE (Princeton)HPS3
Genetics Home Reference (NIH)HPS3
Genomic and cartography
GoldenPath hg38 (UCSC)HPS3  -     chr3:149129584-149173196 +  3q24   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HPS3  -     3q24   [Description]    (hg19-Feb_2009)
EnsemblHPS3 - 3q24 [CytoView hg19]  HPS3 - 3q24 [CytoView hg38]
Mapping of homologs : NCBIHPS3 [Mapview hg19]  HPS3 [Mapview hg38]
OMIM606118   614072   
Gene and transcription
Genbank (Entrez)AK026357 AK055245 AK056575 AK291631 AK298478
RefSeq transcript (Entrez)NM_001308258 NM_032383
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HPS3
Cluster EST : UnigeneHs.591311 [ NCBI ]
CGAP (NCI)Hs.591311
Alternative Splicing GalleryENSG00000163755
Gene ExpressionHPS3 [ NCBI-GEO ]   HPS3 [ EBI - ARRAY_EXPRESS ]   HPS3 [ SEEK ]   HPS3 [ MEM ]
Gene Expression Viewer (FireBrowse)HPS3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84343
GTEX Portal (Tissue expression)HPS3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969F9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ969F9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ969F9
Splice isoforms : SwissVarQ969F9
PhosPhoSitePlusQ969F9
Domains : Interpro (EBI)HPS3    HPS3_C    HPS3_central_dom    HPS3_N   
Domain families : Pfam (Sanger)HPS3_C (PF14763)    HPS3_Mid (PF14762)    HPS3_N (PF14761)   
Domain families : Pfam (NCBI)pfam14763    pfam14762    pfam14761   
Conserved Domain (NCBI)HPS3
DMDM Disease mutations84343
Blocks (Seattle)HPS3
SuperfamilyQ969F9
Human Protein AtlasENSG00000163755
Peptide AtlasQ969F9
HPRD05835
IPIIPI00056324   IPI00220378   IPI00940506   
Protein Interaction databases
DIP (DOE-UCLA)Q969F9
IntAct (EBI)Q969F9
FunCoupENSG00000163755
BioGRIDHPS3
STRING (EMBL)HPS3
ZODIACHPS3
Ontologies - Pathways
QuickGOQ969F9
Ontology : AmiGOprotein binding  organelle organization  BLOC-2 complex  pigmentation  
Ontology : EGO-EBIprotein binding  organelle organization  BLOC-2 complex  pigmentation  
NDEx NetworkHPS3
Atlas of Cancer Signalling NetworkHPS3
Wikipedia pathwaysHPS3
Orthology - Evolution
OrthoDB84343
GeneTree (enSembl)ENSG00000163755
Phylogenetic Trees/Animal Genes : TreeFamHPS3
HOVERGENQ969F9
HOGENOMQ969F9
Homologs : HomoloGeneHPS3
Homology/Alignments : Family Browser (UCSC)HPS3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHPS3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HPS3
dbVarHPS3
ClinVarHPS3
1000_GenomesHPS3 
Exome Variant ServerHPS3
ExAC (Exome Aggregation Consortium)HPS3 (select the gene name)
Genetic variants : HAPMAP84343
Genomic Variants (DGV)HPS3 [DGVbeta]
DECIPHERHPS3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHPS3 
Mutations
ICGC Data PortalHPS3 
TCGA Data PortalHPS3 
Broad Tumor PortalHPS3
OASIS PortalHPS3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHPS3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHPS3
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch HPS3
DgiDB (Drug Gene Interaction Database)HPS3
DoCM (Curated mutations)HPS3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HPS3 (select a term)
intoGenHPS3
Cancer3DHPS3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606118    614072   
Orphanet19196   
MedgenHPS3
Genetic Testing Registry HPS3
NextProtQ969F9 [Medical]
TSGene84343
GENETestsHPS3
Target ValidationHPS3
Huge Navigator HPS3 [HugePedia]
snp3D : Map Gene to Disease84343
BioCentury BCIQHPS3
ClinGenHPS3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84343
Chemical/Pharm GKB GenePA29433
Clinical trialHPS3
Miscellaneous
canSAR (ICR)HPS3 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHPS3
EVEXHPS3
GoPubMedHPS3
iHOPHPS3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:10:45 CEST 2017

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