Atlas of Genetics and Cytogenetics in Oncology and Haematology

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BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6)

Identity

Alias_namesPA
PLDN
pallid (mouse) homolog, pallidin
pallidin homolog (mouse)
Alias_symbol (synonym)HPS9
Other aliasBLOS6
PALLID
HGNC (Hugo) BLOC1S6
LocusID (NCBI) 26258
Atlas_Id 54158
Location 15q21.1  [Link to chromosome band 15q21]
Location_base_pair Starts at 45587123 and ends at 45609716 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BLOC1S6 (15q21.1) / SQRDL (15q21.1)

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)BLOC1S6   8549
LRG (Locus Reference Genomic)LRG_883
Cards
Entrez_Gene (NCBI)BLOC1S6  26258  biogenesis of lysosomal organelles complex 1 subunit 6
AliasesBLOS6; HPS9; PA; PALLID; 
PLDN
GeneCards (Weizmann)BLOC1S6
Ensembl hg19 (Hinxton)ENSG00000104164 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104164 [Gene_View]  ENSG00000104164 [Sequence]  chr15:45587123-45609716 [Contig_View]  BLOC1S6 [Vega]
ICGC DataPortalENSG00000104164
TCGA cBioPortalBLOC1S6
AceView (NCBI)BLOC1S6
Genatlas (Paris)BLOC1S6
WikiGenes26258
SOURCE (Princeton)BLOC1S6
Genetics Home Reference (NIH)BLOC1S6
Genomic and cartography
GoldenPath hg38 (UCSC)BLOC1S6  -     chr15:45587123-45609716 +  15q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BLOC1S6  -     15q21.1   [Description]    (hg19-Feb_2009)
EnsemblBLOC1S6 - 15q21.1 [CytoView hg19]  BLOC1S6 - 15q21.1 [CytoView hg38]
Mapping of homologs : NCBIBLOC1S6 [Mapview hg19]  BLOC1S6 [Mapview hg38]
OMIM604310   614171   
Gene and transcription
Genbank (Entrez)AF080470 AF131859 AK057545 AK128626 AK315581
RefSeq transcript (Entrez)NM_001311255 NM_001311256 NM_012388
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BLOC1S6
Cluster EST : UnigeneHs.7037 [ NCBI ]
CGAP (NCI)Hs.7037
Alternative Splicing GalleryENSG00000104164
Gene ExpressionBLOC1S6 [ NCBI-GEO ]   BLOC1S6 [ EBI - ARRAY_EXPRESS ]   BLOC1S6 [ SEEK ]   BLOC1S6 [ MEM ]
Gene Expression Viewer (FireBrowse)BLOC1S6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26258
GTEX Portal (Tissue expression)BLOC1S6
Human Protein AtlasENSG00000104164-BLOC1S6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UL45   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UL45  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UL45
Splice isoforms : SwissVarQ9UL45
PhosPhoSitePlusQ9UL45
Domains : Interpro (EBI)BLOC-1_pallidin    Snapin/Pallidin/Snn1   
Domain families : Pfam (Sanger)Snapin_Pallidin (PF14712)   
Domain families : Pfam (NCBI)pfam14712   
Conserved Domain (NCBI)BLOC1S6
DMDM Disease mutations26258
Blocks (Seattle)BLOC1S6
SuperfamilyQ9UL45
Human Protein Atlas [tissue]ENSG00000104164-BLOC1S6 [tissue]
Peptide AtlasQ9UL45
HPRD16055
IPIIPI00018229   IPI00398304   IPI00902586   
Protein Interaction databases
DIP (DOE-UCLA)Q9UL45
IntAct (EBI)Q9UL45
FunCoupENSG00000104164
BioGRIDBLOC1S6
STRING (EMBL)BLOC1S6
ZODIACBLOC1S6
Ontologies - Pathways
QuickGOQ9UL45
Ontology : AmiGOprotein binding  cytoplasm  cytosol  anterograde axonal transport  synaptic vesicle docking  extrinsic component of membrane  extrinsic component of membrane  syntaxin binding  transport vesicle  transport vesicle  BLOC-1 complex  BLOC-1 complex  neuron projection development  SNARE complex  melanosome transport  melanosome organization  endosome to melanosome transport  identical protein binding  protein homodimerization activity  protein homodimerization activity  anterograde synaptic vesicle transport  positive regulation of pigment cell differentiation  actin filament binding  presynapse  axon cytoplasm  
Ontology : EGO-EBIprotein binding  cytoplasm  cytosol  anterograde axonal transport  synaptic vesicle docking  extrinsic component of membrane  extrinsic component of membrane  syntaxin binding  transport vesicle  transport vesicle  BLOC-1 complex  BLOC-1 complex  neuron projection development  SNARE complex  melanosome transport  melanosome organization  endosome to melanosome transport  identical protein binding  protein homodimerization activity  protein homodimerization activity  anterograde synaptic vesicle transport  positive regulation of pigment cell differentiation  actin filament binding  presynapse  axon cytoplasm  
NDEx NetworkBLOC1S6
Atlas of Cancer Signalling NetworkBLOC1S6
Wikipedia pathwaysBLOC1S6
Orthology - Evolution
OrthoDB26258
GeneTree (enSembl)ENSG00000104164
Phylogenetic Trees/Animal Genes : TreeFamBLOC1S6
HOGENOMQ9UL45
Homologs : HomoloGeneBLOC1S6
Homology/Alignments : Family Browser (UCSC)BLOC1S6
Gene fusions - Rearrangements
Fusion : MitelmanBLOC1S6/SQRDL [15q21.1/15q21.1]  
Fusion : QuiverBLOC1S6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBLOC1S6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BLOC1S6
dbVarBLOC1S6
ClinVarBLOC1S6
1000_GenomesBLOC1S6 
Exome Variant ServerBLOC1S6
ExAC (Exome Aggregation Consortium)ENSG00000104164
GNOMAD BrowserENSG00000104164
Varsome BrowserBLOC1S6
Genetic variants : HAPMAP26258
Genomic Variants (DGV)BLOC1S6 [DGVbeta]
DECIPHERBLOC1S6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBLOC1S6 
Mutations
ICGC Data PortalBLOC1S6 
TCGA Data PortalBLOC1S6 
Broad Tumor PortalBLOC1S6
OASIS PortalBLOC1S6 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDBLOC1S6
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch BLOC1S6
DgiDB (Drug Gene Interaction Database)BLOC1S6
DoCM (Curated mutations)BLOC1S6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BLOC1S6 (select a term)
intoGenBLOC1S6
Cancer3DBLOC1S6(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604310    614171   
Orphanet20493   
DisGeNETBLOC1S6
MedgenBLOC1S6
Genetic Testing Registry BLOC1S6
NextProtQ9UL45 [Medical]
TSGene26258
GENETestsBLOC1S6
Target ValidationBLOC1S6
Huge Navigator BLOC1S6 [HugePedia]
snp3D : Map Gene to Disease26258
BioCentury BCIQBLOC1S6
ClinGenBLOC1S6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26258
Chemical/Pharm GKB GenePA33398
Clinical trialBLOC1S6
Miscellaneous
canSAR (ICR)BLOC1S6 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBLOC1S6
EVEXBLOC1S6
GoPubMedBLOC1S6
iHOPBLOC1S6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Dec 21 15:07:49 CET 2018
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