Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone)

Identity

Alias_namesBCS1 (yeast homolog)-like
BCS1-like (yeast)
BCS1-like (S. cerevisiae)
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
Alias_symbol (synonym)Hs.6719
BCS
h-BCS
BJS
Other aliasBCS1
FLNMS
GRACILE
MC3DN1
PTD
h-BCS1
HGNC (Hugo) BCS1L
LocusID (NCBI) 617
Atlas_Id 784
Location 2q35  [Link to chromosome band 2q35]
Location_base_pair Starts at 218659656 and ends at 218663443 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)BCS1L   1020
LRG (Locus Reference Genomic)LRG_539
Cards
Entrez_Gene (NCBI)BCS1L  617  BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
AliasesBCS; BCS1; BJS; FLNMS; 
GRACILE; Hs.6719; MC3DN1; PTD; h-BCS; h-BCS1
GeneCards (Weizmann)BCS1L
Ensembl hg19 (Hinxton)ENSG00000074582 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000074582 [Gene_View]  chr2:218659656-218663443 [Contig_View]  BCS1L [Vega]
ICGC DataPortalENSG00000074582
TCGA cBioPortalBCS1L
AceView (NCBI)BCS1L
Genatlas (Paris)BCS1L
WikiGenes617
SOURCE (Princeton)BCS1L
Genetics Home Reference (NIH)BCS1L
Genomic and cartography
GoldenPath hg38 (UCSC)BCS1L  -     chr2:218659656-218663443 +  2q35   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BCS1L  -     2q35   [Description]    (hg19-Feb_2009)
EnsemblBCS1L - 2q35 [CytoView hg19]  BCS1L - 2q35 [CytoView hg38]
Mapping of homologs : NCBIBCS1L [Mapview hg19]  BCS1L [Mapview hg38]
OMIM124000   256000   262000   603358   603647   
Gene and transcription
Genbank (Entrez)AF026849 AF038195 AK096210 AK223518 AK289363
RefSeq transcript (Entrez)NM_001079866 NM_001257342 NM_001257343 NM_001257344 NM_001318836 NM_001320717 NM_004328
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BCS1L
Cluster EST : UnigeneHs.471401 [ NCBI ]
CGAP (NCI)Hs.471401
Alternative Splicing GalleryENSG00000074582
Gene ExpressionBCS1L [ NCBI-GEO ]   BCS1L [ EBI - ARRAY_EXPRESS ]   BCS1L [ SEEK ]   BCS1L [ MEM ]
Gene Expression Viewer (FireBrowse)BCS1L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)617
GTEX Portal (Tissue expression)BCS1L
Human Protein AtlasENSG00000074582-BCS1L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y276   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y276  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y276
Splice isoforms : SwissVarQ9Y276
PhosPhoSitePlusQ9Y276
Domaine pattern : Prosite (Expaxy)AAA (PS00674)   
Domains : Interpro (EBI)AAA+_ATPase    ATPase_AAA_core    ATPase_AAA_CS    BCS1    BCS1_N    P-loop_NTPase   
Domain families : Pfam (Sanger)AAA (PF00004)    BCS1_N (PF08740)   
Domain families : Pfam (NCBI)pfam00004    pfam08740   
Domain families : Smart (EMBL)AAA (SM00382)  BCS1_N (SM01024)  
Conserved Domain (NCBI)BCS1L
DMDM Disease mutations617
Blocks (Seattle)BCS1L
SuperfamilyQ9Y276
Human Protein Atlas [tissue]ENSG00000074582-BCS1L [tissue]
Peptide AtlasQ9Y276
HPRD04708
IPIIPI00003985   IPI00926676   IPI00924626   IPI00927724   IPI00927504   IPI00925074   IPI00925726   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y276
IntAct (EBI)Q9Y276
FunCoupENSG00000074582
BioGRIDBCS1L
STRING (EMBL)BCS1L
ZODIACBCS1L
Ontologies - Pathways
QuickGOQ9Y276
Ontology : AmiGOprotein binding  ATP binding  mitochondrion  mitochondrial respiratory chain complex III  mitochondrion organization  mitochondrial respiratory chain complex I assembly  mitochondrial respiratory chain complex IV assembly  mitochondrial respiratory chain complex III assembly  
Ontology : EGO-EBIprotein binding  ATP binding  mitochondrion  mitochondrial respiratory chain complex III  mitochondrion organization  mitochondrial respiratory chain complex I assembly  mitochondrial respiratory chain complex IV assembly  mitochondrial respiratory chain complex III assembly  
NDEx NetworkBCS1L
Atlas of Cancer Signalling NetworkBCS1L
Wikipedia pathwaysBCS1L
Orthology - Evolution
OrthoDB617
GeneTree (enSembl)ENSG00000074582
Phylogenetic Trees/Animal Genes : TreeFamBCS1L
HOVERGENQ9Y276
HOGENOMQ9Y276
Homologs : HomoloGeneBCS1L
Homology/Alignments : Family Browser (UCSC)BCS1L
Gene fusions - Rearrangements
Tumor Fusion PortalBCS1L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBCS1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCS1L
dbVarBCS1L
ClinVarBCS1L
1000_GenomesBCS1L 
Exome Variant ServerBCS1L
ExAC (Exome Aggregation Consortium)ENSG00000074582
GNOMAD BrowserENSG00000074582
Genetic variants : HAPMAP617
Genomic Variants (DGV)BCS1L [DGVbeta]
DECIPHERBCS1L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBCS1L 
Mutations
ICGC Data PortalBCS1L 
TCGA Data PortalBCS1L 
Broad Tumor PortalBCS1L
OASIS PortalBCS1L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBCS1L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBCS1L
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch BCS1L
DgiDB (Drug Gene Interaction Database)BCS1L
DoCM (Curated mutations)BCS1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BCS1L (select a term)
intoGenBCS1L
Cancer3DBCS1L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM124000    256000    262000    603358    603647   
Orphanet19798    3378    8566    10737   
DisGeNETBCS1L
MedgenBCS1L
Genetic Testing Registry BCS1L
NextProtQ9Y276 [Medical]
TSGene617
GENETestsBCS1L
Target ValidationBCS1L
Huge Navigator BCS1L [HugePedia]
snp3D : Map Gene to Disease617
BioCentury BCIQBCS1L
ClinGenBCS1L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD617
Chemical/Pharm GKB GenePA25327
Clinical trialBCS1L
Miscellaneous
canSAR (ICR)BCS1L (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBCS1L
EVEXBCS1L
GoPubMedBCS1L
iHOPBCS1L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:04:45 CET 2017

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