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BLOC1S4 (biogenesis of lysosomal organelles complex 1 subunit 4)

Identity

Alias_namesCNO
cappuccino homolog (mouse)
Alias_symbol (synonym)FLJ11230
BCAS4L
Other aliasBLOS4
HGNC (Hugo) BLOC1S4
LocusID (NCBI) 55330
Atlas_Id 52625
Location 4p16.1  [Link to chromosome band 4p16]
Location_base_pair Starts at 6716115 and ends at 6717660 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)

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)BLOC1S4   24206
Cards
Entrez_Gene (NCBI)BLOC1S4  55330  biogenesis of lysosomal organelles complex 1 subunit 4
AliasesBCAS4L; BLOS4; CNO
GeneCards (Weizmann)BLOC1S4
Ensembl hg19 (Hinxton)ENSG00000186222 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186222 [Gene_View]  chr4:6716115-6717660 [Contig_View]  BLOC1S4 [Vega]
ICGC DataPortalENSG00000186222
TCGA cBioPortalBLOC1S4
AceView (NCBI)BLOC1S4
Genatlas (Paris)BLOC1S4
WikiGenes55330
SOURCE (Princeton)BLOC1S4
Genetics Home Reference (NIH)BLOC1S4
Genomic and cartography
GoldenPath hg38 (UCSC)BLOC1S4  -     chr4:6716115-6717660 +  4p16.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BLOC1S4  -     4p16.1   [Description]    (hg19-Feb_2009)
EnsemblBLOC1S4 - 4p16.1 [CytoView hg19]  BLOC1S4 - 4p16.1 [CytoView hg38]
Mapping of homologs : NCBIBLOC1S4 [Mapview hg19]  BLOC1S4 [Mapview hg38]
OMIM605695   
Gene and transcription
Genbank (Entrez)AF085849 AI679712 AK002092 BC001818 BC009890
RefSeq transcript (Entrez)NM_018366
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BLOC1S4
Cluster EST : UnigeneHs.7570 [ NCBI ]
CGAP (NCI)Hs.7570
Alternative Splicing GalleryENSG00000186222
Gene ExpressionBLOC1S4 [ NCBI-GEO ]   BLOC1S4 [ EBI - ARRAY_EXPRESS ]   BLOC1S4 [ SEEK ]   BLOC1S4 [ MEM ]
Gene Expression Viewer (FireBrowse)BLOC1S4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55330
GTEX Portal (Tissue expression)BLOC1S4
Human Protein AtlasENSG00000186222-BLOC1S4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NUP1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NUP1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NUP1
Splice isoforms : SwissVarQ9NUP1
PhosPhoSitePlusQ9NUP1
Domains : Interpro (EBI)Cappuccino   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)BLOC1S4
DMDM Disease mutations55330
Blocks (Seattle)BLOC1S4
SuperfamilyQ9NUP1
Human Protein Atlas [tissue]ENSG00000186222-BLOC1S4 [tissue]
Peptide AtlasQ9NUP1
HPRD12035
IPIIPI00020002   IPI00976369   
Protein Interaction databases
DIP (DOE-UCLA)Q9NUP1
IntAct (EBI)Q9NUP1
FunCoupENSG00000186222
BioGRIDBLOC1S4
STRING (EMBL)BLOC1S4
ZODIACBLOC1S4
Ontologies - Pathways
QuickGOQ9NUP1
Ontology : AmiGOprotein binding  cytoplasm  cytosol  anterograde axonal transport  BLOC-1 complex  neuron projection development  melanosome organization  intracellular transport  anterograde synaptic vesicle transport  neuromuscular process controlling balance  platelet aggregation  axon cytoplasm  
Ontology : EGO-EBIprotein binding  cytoplasm  cytosol  anterograde axonal transport  BLOC-1 complex  neuron projection development  melanosome organization  intracellular transport  anterograde synaptic vesicle transport  neuromuscular process controlling balance  platelet aggregation  axon cytoplasm  
NDEx NetworkBLOC1S4
Atlas of Cancer Signalling NetworkBLOC1S4
Wikipedia pathwaysBLOC1S4
Orthology - Evolution
OrthoDB55330
GeneTree (enSembl)ENSG00000186222
Phylogenetic Trees/Animal Genes : TreeFamBLOC1S4
HOVERGENQ9NUP1
HOGENOMQ9NUP1
Homologs : HomoloGeneBLOC1S4
Homology/Alignments : Family Browser (UCSC)BLOC1S4
Gene fusions - Rearrangements
Fusion: Tumor Portal BLOC1S4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBLOC1S4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BLOC1S4
dbVarBLOC1S4
ClinVarBLOC1S4
1000_GenomesBLOC1S4 
Exome Variant ServerBLOC1S4
ExAC (Exome Aggregation Consortium)ENSG00000186222
GNOMAD BrowserENSG00000186222
Genetic variants : HAPMAP55330
Genomic Variants (DGV)BLOC1S4 [DGVbeta]
DECIPHERBLOC1S4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBLOC1S4 
Mutations
ICGC Data PortalBLOC1S4 
TCGA Data PortalBLOC1S4 
Broad Tumor PortalBLOC1S4
OASIS PortalBLOC1S4 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDBLOC1S4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BLOC1S4
DgiDB (Drug Gene Interaction Database)BLOC1S4
DoCM (Curated mutations)BLOC1S4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BLOC1S4 (select a term)
intoGenBLOC1S4
Cancer3DBLOC1S4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605695   
Orphanet
MedgenBLOC1S4
Genetic Testing Registry BLOC1S4
NextProtQ9NUP1 [Medical]
TSGene55330
GENETestsBLOC1S4
Target ValidationBLOC1S4
Huge Navigator BLOC1S4 [HugePedia]
snp3D : Map Gene to Disease55330
BioCentury BCIQBLOC1S4
ClinGenBLOC1S4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55330
Chemical/Pharm GKB GenePA142672088
Clinical trialBLOC1S4
Miscellaneous
canSAR (ICR)BLOC1S4 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBLOC1S4
EVEXBLOC1S4
GoPubMedBLOC1S4
iHOPBLOC1S4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 12:42:03 CET 2017

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