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BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5)

Identity

Alias_namesMUTED
muted homolog (mouse)
Alias_symbol (synonym)MU
dJ303A1.3
Other aliasBLOS5
HGNC (Hugo) BLOC1S5
LocusID (NCBI) 63915
Atlas_Id 60763
Location 6p24.3  [Link to chromosome band 6p24]
Location_base_pair Starts at 8013567 and ends at 8064414 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)
CD2AP (6p12.3) / BLOC1S5 (6p24.3)RANBP9 (6p23) / BLOC1S5 (6p24.3)TXNDC5 (6p24.3) / BLOC1S5 (6p24.3)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(6;6)(p12;p24) CD2AP/BLOC1S5
t(6;6)(p23;p24) RANBP9/BLOC1S5


External links

Nomenclature
HGNC (Hugo)BLOC1S5   18561
Cards
Entrez_Gene (NCBI)BLOC1S5  63915  biogenesis of lysosomal organelles complex 1 subunit 5
AliasesBLOS5; MU; MUTED
GeneCards (Weizmann)BLOC1S5
Ensembl hg19 (Hinxton)ENSG00000188428 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000188428 [Gene_View]  ENSG00000188428 [Sequence]  chr6:8013567-8064414 [Contig_View]  BLOC1S5 [Vega]
ICGC DataPortalENSG00000188428
TCGA cBioPortalBLOC1S5
AceView (NCBI)BLOC1S5
Genatlas (Paris)BLOC1S5
WikiGenes63915
SOURCE (Princeton)BLOC1S5
Genetics Home Reference (NIH)BLOC1S5
Genomic and cartography
GoldenPath hg38 (UCSC)BLOC1S5  -     chr6:8013567-8064414 -  6p24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BLOC1S5  -     6p24.3   [Description]    (hg19-Feb_2009)
EnsemblBLOC1S5 - 6p24.3 [CytoView hg19]  BLOC1S5 - 6p24.3 [CytoView hg38]
Mapping of homologs : NCBIBLOC1S5 [Mapview hg19]  BLOC1S5 [Mapview hg38]
OMIM607289   
Gene and transcription
Genbank (Entrez)AA653396 AF426434 AK025442 AK301142 AK311385
RefSeq transcript (Entrez)NM_001199322 NM_001199323 NM_201280
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BLOC1S5
Cluster EST : UnigeneHs.719272 [ NCBI ]
CGAP (NCI)Hs.719272
Alternative Splicing GalleryENSG00000188428
Gene ExpressionBLOC1S5 [ NCBI-GEO ]   BLOC1S5 [ EBI - ARRAY_EXPRESS ]   BLOC1S5 [ SEEK ]   BLOC1S5 [ MEM ]
Gene Expression Viewer (FireBrowse)BLOC1S5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)63915
GTEX Portal (Tissue expression)BLOC1S5
Human Protein AtlasENSG00000188428-BLOC1S5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TDH9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TDH9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TDH9
Splice isoforms : SwissVarQ8TDH9
PhosPhoSitePlusQ8TDH9
Domains : Interpro (EBI)Bloc1s5   
Domain families : Pfam (Sanger)Muted (PF14942)   
Domain families : Pfam (NCBI)pfam14942   
Conserved Domain (NCBI)BLOC1S5
DMDM Disease mutations63915
Blocks (Seattle)BLOC1S5
SuperfamilyQ8TDH9
Human Protein Atlas [tissue]ENSG00000188428-BLOC1S5 [tissue]
Peptide AtlasQ8TDH9
HPRD06289
Protein Interaction databases
DIP (DOE-UCLA)Q8TDH9
IntAct (EBI)Q8TDH9
FunCoupENSG00000188428
BioGRIDBLOC1S5
STRING (EMBL)BLOC1S5
ZODIACBLOC1S5
Ontologies - Pathways
QuickGOQ8TDH9
Ontology : AmiGO###############################################################################################################################################################################################################################################################                        
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                        
NDEx NetworkBLOC1S5
Atlas of Cancer Signalling NetworkBLOC1S5
Wikipedia pathwaysBLOC1S5
Orthology - Evolution
OrthoDB63915
GeneTree (enSembl)ENSG00000188428
Phylogenetic Trees/Animal Genes : TreeFamBLOC1S5
HOVERGENQ8TDH9
HOGENOMQ8TDH9
Homologs : HomoloGeneBLOC1S5
Homology/Alignments : Family Browser (UCSC)BLOC1S5
Gene fusions - Rearrangements
Fusion : QuiverBLOC1S5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBLOC1S5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BLOC1S5
dbVarBLOC1S5
ClinVarBLOC1S5
1000_GenomesBLOC1S5 
Exome Variant ServerBLOC1S5
ExAC (Exome Aggregation Consortium)ENSG00000188428
GNOMAD BrowserENSG00000188428
Varsome BrowserBLOC1S5
Genetic variants : HAPMAP63915
Genomic Variants (DGV)BLOC1S5 [DGVbeta]
DECIPHERBLOC1S5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBLOC1S5 
Mutations
ICGC Data PortalBLOC1S5 
TCGA Data PortalBLOC1S5 
Broad Tumor PortalBLOC1S5
OASIS PortalBLOC1S5 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDBLOC1S5
BioMutasearch BLOC1S5
DgiDB (Drug Gene Interaction Database)BLOC1S5
DoCM (Curated mutations)BLOC1S5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BLOC1S5 (select a term)
intoGenBLOC1S5
Cancer3DBLOC1S5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607289   
Orphanet
DisGeNETBLOC1S5
MedgenBLOC1S5
Genetic Testing Registry BLOC1S5
NextProtQ8TDH9 [Medical]
TSGene63915
GENETestsBLOC1S5
Target ValidationBLOC1S5
Huge Navigator BLOC1S5 [HugePedia]
snp3D : Map Gene to Disease63915
BioCentury BCIQBLOC1S5
ClinGenBLOC1S5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD63915
Chemical/Pharm GKB GenePA134921692
Clinical trialBLOC1S5
Miscellaneous
canSAR (ICR)BLOC1S5 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBLOC1S5
EVEXBLOC1S5
GoPubMedBLOC1S5
iHOPBLOC1S5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 13:36:52 CEST 2018

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