Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HPS5 (HPS5, biogenesis of lysosomal organelles complex 2 subunit 2)

Identity

Alias_namesHermansky-Pudlak syndrome 5
Alias_symbol (synonym)BLOC2S2
HGNC (Hugo) HPS5
LocusID (NCBI) 11234
Atlas_Id 47152
Location 11p15.1  [Link to chromosome band 11p15]
Location_base_pair Starts at 18300217 and ends at 18343721 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AD_1 () / HPS5 (11p15.1)GTF2H1 (11p15.1) / HPS5 (11p15.1)HPS5 (11p15.1) / APOO (Xp22.11)
HPS5 (11p15.1) / LINC00264 (10p12.1)HPS5 (11p15.1) / SETD5 (3p25.3)PARP14 (3q21.1) / HPS5 (11p15.1)
GTF2H1 11p15.1 / HPS5 11p15.1HPS5 11p15.1 / SETD5 3p25.3

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)HPS5   17022
LRG (Locus Reference Genomic)LRG_586
Cards
Entrez_Gene (NCBI)HPS5  11234  HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
AliasesAIBP63; BLOC2S2
GeneCards (Weizmann)HPS5
Ensembl hg19 (Hinxton)ENSG00000110756 [Gene_View]  chr11:18300217-18343721 [Contig_View]  HPS5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000110756 [Gene_View]  chr11:18300217-18343721 [Contig_View]  HPS5 [Vega]
ICGC DataPortalENSG00000110756
TCGA cBioPortalHPS5
AceView (NCBI)HPS5
Genatlas (Paris)HPS5
WikiGenes11234
SOURCE (Princeton)HPS5
Genetics Home Reference (NIH)HPS5
Genomic and cartography
GoldenPath hg19 (UCSC)HPS5  -     chr11:18300217-18343721 -  11p15.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HPS5  -     11p15.1   [Description]    (hg38-Dec_2013)
EnsemblHPS5 - 11p15.1 [CytoView hg19]  HPS5 - 11p15.1 [CytoView hg38]
Mapping of homologs : NCBIHPS5 [Mapview hg19]  HPS5 [Mapview hg38]
OMIM607521   614074   
Gene and transcription
Genbank (Entrez)AA886415 AB023234 AF534400 AF534401 AF534402
RefSeq transcript (Entrez)NM_007216 NM_181507 NM_181508
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_008877 NT_009237 NW_004929378
Consensus coding sequences : CCDS (NCBI)HPS5
Cluster EST : UnigeneHs.437599 [ NCBI ]
CGAP (NCI)Hs.437599
Alternative Splicing GalleryENSG00000110756
Gene ExpressionHPS5 [ NCBI-GEO ]   HPS5 [ EBI - ARRAY_EXPRESS ]   HPS5 [ SEEK ]   HPS5 [ MEM ]
Gene Expression Viewer (FireBrowse)HPS5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11234
GTEX Portal (Tissue expression)HPS5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UPZ3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UPZ3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UPZ3
Splice isoforms : SwissVarQ9UPZ3
PhosPhoSitePlusQ9UPZ3
Domains : Interpro (EBI)WD40/YVTN_repeat-like_dom    WD40_repeat_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)HPS5
DMDM Disease mutations11234
Blocks (Seattle)HPS5
SuperfamilyQ9UPZ3
Human Protein AtlasENSG00000110756
Peptide AtlasQ9UPZ3
HPRD07395
IPIIPI00010486   IPI00219602   IPI00980409   IPI01013151   IPI01015693   
Protein Interaction databases
DIP (DOE-UCLA)Q9UPZ3
IntAct (EBI)Q9UPZ3
FunCoupENSG00000110756
BioGRIDHPS5
STRING (EMBL)HPS5
ZODIACHPS5
Ontologies - Pathways
QuickGOQ9UPZ3
Ontology : AmiGOorganelle organization  blood coagulation  BLOC-2 complex  pigmentation  
Ontology : EGO-EBIorganelle organization  blood coagulation  BLOC-2 complex  pigmentation  
NDEx NetworkHPS5
Atlas of Cancer Signalling NetworkHPS5
Wikipedia pathwaysHPS5
Orthology - Evolution
OrthoDB11234
GeneTree (enSembl)ENSG00000110756
Phylogenetic Trees/Animal Genes : TreeFamHPS5
HOVERGENQ9UPZ3
HOGENOMQ9UPZ3
Homologs : HomoloGeneHPS5
Homology/Alignments : Family Browser (UCSC)HPS5
Gene fusions - Rearrangements
Fusion : MitelmanGTF2H1/HPS5 [11p15.1/11p15.1]  [t(11;11)(p15;p15)]  
Fusion : MitelmanHPS5/APOO [11p15.1/Xp22.11]  [t(X;11)(p22;p15)]  
Fusion : MitelmanHPS5/SETD5 [11p15.1/3p25.3]  [t(3;11)(p25;p15)]  
Fusion: TCGAGTF2H1 11p15.1 HPS5 11p15.1 BRCA
Fusion: TCGAHPS5 11p15.1 SETD5 3p25.3 BRCA
Fusion Cancer (Beijing)AD_1 [HPS5]  -  11p15.1 [FUSC000464]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHPS5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HPS5
dbVarHPS5
ClinVarHPS5
1000_GenomesHPS5 
Exome Variant ServerHPS5
ExAC (Exome Aggregation Consortium)HPS5 (select the gene name)
Genetic variants : HAPMAP11234
Genomic Variants (DGV)HPS5 [DGVbeta]
DECIPHER (Syndromes)11:18300217-18343721  ENSG00000110756
CONAN: Copy Number AnalysisHPS5 
Mutations
ICGC Data PortalHPS5 
TCGA Data PortalHPS5 
Broad Tumor PortalHPS5
OASIS PortalHPS5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHPS5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHPS5
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 HPS5
DgiDB (Drug Gene Interaction Database)HPS5
DoCM (Curated mutations)HPS5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HPS5 (select a term)
intoGenHPS5
Cancer3DHPS5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607521    614074   
Orphanet19196   
MedgenHPS5
Genetic Testing Registry HPS5
NextProtQ9UPZ3 [Medical]
TSGene11234
GENETestsHPS5
Huge Navigator HPS5 [HugePedia]
snp3D : Map Gene to Disease11234
BioCentury BCIQHPS5
ClinGenHPS5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11234
Chemical/Pharm GKB GenePA38432
Clinical trialHPS5
Miscellaneous
canSAR (ICR)HPS5 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHPS5
EVEXHPS5
GoPubMedHPS5
iHOPHPS5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:39:46 CET 2016

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