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HPS6 (Hermansky-Pudlak syndrome 6)

Identity

HGNC (Hugo) HPS6
LocusID (NCBI) 79803
Atlas_Id 52631
Location 10q24.32
Location_base_pair Starts at 103825124 and ends at 103827795 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)HPS6   18817
Cards
Entrez_Gene (NCBI)HPS6  79803  Hermansky-Pudlak syndrome 6
GeneCards (Weizmann)HPS6
Ensembl hg19 (Hinxton)ENSG00000166189 [Gene_View]  chr10:103825124-103827795 [Contig_View]  HPS6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000166189 [Gene_View]  chr10:103825124-103827795 [Contig_View]  HPS6 [Vega]
ICGC DataPortalENSG00000166189
TCGA cBioPortalHPS6
AceView (NCBI)HPS6
Genatlas (Paris)HPS6
WikiGenes79803
SOURCE (Princeton)HPS6
Genomic and cartography
GoldenPath hg19 (UCSC)HPS6  -     chr10:103825124-103827795 +  10q24.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HPS6  -     10q24.32   [Description]    (hg38-Dec_2013)
EnsemblHPS6 - 10q24.32 [CytoView hg19]  HPS6 - 10q24.32 [CytoView hg38]
Mapping of homologs : NCBIHPS6 [Mapview hg19]  HPS6 [Mapview hg38]
OMIM607522   614075   
Gene and transcription
Genbank (Entrez)AF536238 AK026154 BC009258 BC011594 BC014993
RefSeq transcript (Entrez)NM_024747
RefSeq genomic (Entrez)NC_000010 NC_018921 NG_012029 NT_030059 NW_004929376
Consensus coding sequences : CCDS (NCBI)HPS6
Cluster EST : UnigeneHs.125133 [ NCBI ]
CGAP (NCI)Hs.125133
Alternative Splicing : Fast-db (Paris)GSHG0003637
Alternative Splicing GalleryENSG00000166189
Gene ExpressionHPS6 [ NCBI-GEO ]     HPS6 [ SEEK ]   HPS6 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86YV9 (Uniprot)
NextProtQ86YV9  [Medical]  [Publications]
With graphics : InterProQ86YV9
Splice isoforms : SwissVarQ86YV9 (Swissvar)
Domains : Interpro (EBI)BLOC-2_complex_Hps6_subunit   
Related proteins : CluSTrQ86YV9
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations79803
Blocks (Seattle)Q86YV9
Human Protein AtlasENSG00000166189
Peptide AtlasQ86YV9
HPRD08471
IPIIPI00015505   
Protein Interaction databases
DIP (DOE-UCLA)Q86YV9
IntAct (EBI)Q86YV9
FunCoupENSG00000166189
BioGRIDHPS6
IntegromeDBHPS6
STRING (EMBL)HPS6
Ontologies - Pathways
QuickGOQ86YV9
Ontology : AmiGOendoplasmic reticulum  organelle organization  blood coagulation  membrane  Rab GTPase binding  melanocyte differentiation  GTP-dependent protein binding  BLOC-2 complex  early endosome membrane  protein localization to membrane  
Ontology : EGO-EBIendoplasmic reticulum  organelle organization  blood coagulation  membrane  Rab GTPase binding  melanocyte differentiation  GTP-dependent protein binding  BLOC-2 complex  early endosome membrane  protein localization to membrane  
Protein Interaction DatabaseHPS6
DoCM (Curated mutations)HPS6
Wikipedia pathwaysHPS6
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerHPS6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HPS6
dbVarHPS6
ClinVarHPS6
1000_GenomesHPS6 
Exome Variant ServerHPS6
SNP (GeneSNP Utah)HPS6
SNP : HGBaseHPS6
Genetic variants : HAPMAPHPS6
Genomic Variants (DGV)HPS6 [DGVbeta]
Mutations
ICGC Data PortalHPS6 
TCGA Data PortalHPS6 
Tumor PortalHPS6
Somatic Mutations in Cancer : COSMICHPS6 
LOVD (Leiden Open Variation Database)Whole genome datasets
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)10:103825124-103827795
CONAN: Copy Number AnalysisHPS6 
Mutations and Diseases : HGMDHPS6
OMIM607522    614075   
MedgenHPS6
NextProtQ86YV9 [Medical]
GENETestsHPS6
Disease Genetic AssociationHPS6
Huge Navigator HPS6 [HugePedia]  HPS6 [HugeCancerGEM]
snp3D : Map Gene to Disease79803
DGIdb (Drug Gene Interaction db)HPS6
BioCentury BCIQHPS6
General knowledge
Homologs : HomoloGeneHPS6
Homology/Alignments : Family Browser (UCSC)HPS6
Phylogenetic Trees/Animal Genes : TreeFamHPS6
Chemical/Protein Interactions : CTD79803
Chemical/Pharm GKB GenePA134989637
Clinical trialHPS6
Cancer Resource (Charite)ENSG00000166189
Other databases
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
CoreMineHPS6
GoPubMedHPS6
iHOPHPS6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 11:41:07 CEST 2015

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