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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret jlhuret@AtlasGeneticsOncology.org
Donations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
Note: we send fiscal receipts for donations equal or above 50 Euros or Dollars

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HPS5 (Hermansky-Pudlak syndrome 5)

Identity

Other namesAIBP63
HGNC (Hugo) HPS5
LocusID (NCBI) 11234
Location 11p15.1
Location_base_pair Starts at 18300217 and ends at 18343721 bp from pter ( according to hg19-Feb_2009)
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
Cards
Entrez_Gene (NCBI)HPS5  11234  Hermansky-Pudlak syndrome 5
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
cBioPortalHPS5
AceView (NCBI)HPS5
Genatlas (Paris)HPS5
WikiGenes11234
SOURCE (Princeton)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 : Fast-db (Paris)GSHG0005632
Alternative Splicing GalleryENSG00000110756
Gene ExpressionHPS5 [ NCBI-GEO ]     HPS5 [ SEEK ]   HPS5 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UPZ3 (Uniprot)
NextProtQ9UPZ3  [Medical]
With graphics : InterProQ9UPZ3
Splice isoforms : SwissVarQ9UPZ3 (Swissvar)
Domains : Interpro (EBI)BLOC-2_complex_Hps5_subunit    WD40/YVTN_repeat-like_dom    WD40_repeat_dom   
Related proteins : CluSTrQ9UPZ3
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations11234
Blocks (Seattle)Q9UPZ3
Human Protein AtlasENSG00000110756
Peptide AtlasQ9UPZ3
HPRD07395
IPIIPI00010486   IPI00219602   IPI00980409   IPI01013151   IPI01015693   
Protein Interaction databases
DIP (DOE-UCLA)Q9UPZ3
IntAct (EBI)Q9UPZ3
FunCoupENSG00000110756
BioGRIDHPS5
IntegromeDBHPS5
STRING (EMBL)HPS5
Ontologies - Pathways
QuickGOQ9UPZ3
Ontology : AmiGOorganelle organization  blood coagulation  BLOC-2 complex  pigmentation  
Ontology : EGO-EBIorganelle organization  blood coagulation  BLOC-2 complex  pigmentation  
Protein Interaction DatabaseHPS5
DoCM (Curated mutations)HPS5
Wikipedia pathwaysHPS5
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerHPS5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HPS5
dbVarHPS5
ClinVarHPS5
1000_GenomesHPS5 
Exome Variant ServerHPS5
SNP (GeneSNP Utah)HPS5
SNP : HGBaseHPS5
Genetic variants : HAPMAPHPS5
Genomic Variants (DGV)HPS5 [DGVbeta]
Mutations
ICGC Data PortalENSG00000110756 
Somatic Mutations in Cancer : COSMICHPS5 
CONAN: Copy Number AnalysisHPS5 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:18300217-18343721
Mutations and Diseases : HGMDHPS5
OMIM607521    614074   
MedgenHPS5
NextProtQ9UPZ3 [Medical]
GENETestsHPS5
Disease Genetic AssociationHPS5
Huge Navigator HPS5 [HugePedia]  HPS5 [HugeCancerGEM]
snp3D : Map Gene to Disease11234
DGIdb (Drug Gene Interaction db)HPS5
General knowledge
Homologs : HomoloGeneHPS5
Homology/Alignments : Family Browser (UCSC)HPS5
Phylogenetic Trees/Animal Genes : TreeFamHPS5
Chemical/Protein Interactions : CTD11234
Chemical/Pharm GKB GenePA38432
Clinical trialHPS5
Cancer Resource (Charite)ENSG00000110756
Other databases
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
CoreMineHPS5
GoPubMedHPS5
iHOPHPS5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Mar 28 15:38:36 CET 2015

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.