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BSCL2 (BSCL2, seipin lipid droplet biogenesis associated)

Identity

Alias_namesGNG3LG
SPG17
spastic paraplegia 17 (Silver syndrome)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Other aliasHMN5
PELD
HGNC (Hugo) BSCL2
LocusID (NCBI) 26580
Atlas_Id 60814
Location 11q12.3  [Link to chromosome band 11q12]
Location_base_pair Starts at 62690262 and ends at 62707707 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)
BSCL2 (11q12.3) / ADM (11p15.4)BSCL2 (11q12.3) / BSCL2 (11q12.3)BSCL2 (11q12.3) / HNRNPUL2 (11q12.3)
BSCL2 (11q12.3) / RPL22L1 (3q26.2)BSCL2 (11q12.3) / SENP5 (3q29)HNRNPUL2 (11q12.3) / BSCL2 (11q12.3)
TUT1 (11q12.3) / BSCL2 (11q12.3)UBXN1 (11q12.3) / BSCL2 (11q12.3)UBXN1 BSCL2
TUT1 BSCL2

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)BSCL2   15832
LRG (Locus Reference Genomic)LRG_235
Cards
Entrez_Gene (NCBI)BSCL2  26580  BSCL2, seipin lipid droplet biogenesis associated
AliasesGNG3LG; HMN5; PELD; SPG17
GeneCards (Weizmann)BSCL2
Ensembl hg19 (Hinxton)ENSG00000168000 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168000 [Gene_View]  chr11:62690262-62707707 [Contig_View]  BSCL2 [Vega]
ICGC DataPortalENSG00000168000
TCGA cBioPortalBSCL2
AceView (NCBI)BSCL2
Genatlas (Paris)BSCL2
WikiGenes26580
SOURCE (Princeton)BSCL2
Genetics Home Reference (NIH)BSCL2
Genomic and cartography
GoldenPath hg38 (UCSC)BSCL2  -     chr11:62690262-62707707 -  11q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BSCL2  -     11q12.3   [Description]    (hg19-Feb_2009)
EnsemblBSCL2 - 11q12.3 [CytoView hg19]  BSCL2 - 11q12.3 [CytoView hg38]
Mapping of homologs : NCBIBSCL2 [Mapview hg19]  BSCL2 [Mapview hg38]
OMIM269700   270685   600794   606158   615924   
Gene and transcription
Genbank (Entrez)AF052149 AK027524 AK075317 AK223606 AK225029
RefSeq transcript (Entrez)NM_001122955 NM_001130702 NM_032667
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BSCL2
Cluster EST : UnigeneHs.533709 [ NCBI ]
CGAP (NCI)Hs.533709
Alternative Splicing GalleryENSG00000168000
Gene ExpressionBSCL2 [ NCBI-GEO ]   BSCL2 [ EBI - ARRAY_EXPRESS ]   BSCL2 [ SEEK ]   BSCL2 [ MEM ]
Gene Expression Viewer (FireBrowse)BSCL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26580
GTEX Portal (Tissue expression)BSCL2
Human Protein AtlasENSG00000168000-BSCL2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96G97   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96G97  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96G97
Splice isoforms : SwissVarQ96G97
PhosPhoSitePlusQ96G97
Domains : Interpro (EBI)Seipin   
Domain families : Pfam (Sanger)Seipin (PF06775)   
Domain families : Pfam (NCBI)pfam06775   
Conserved Domain (NCBI)BSCL2
DMDM Disease mutations26580
Blocks (Seattle)BSCL2
SuperfamilyQ96G97
Human Protein Atlas [tissue]ENSG00000168000-BSCL2 [tissue]
Peptide AtlasQ96G97
HPRD05858
IPIIPI00783278   IPI00045906   IPI00479357   IPI00877791   IPI00877921   IPI00879037   IPI00879215   IPI00973744   IPI00974263   IPI00980032   IPI00982665   IPI00976118   IPI00978283   IPI01015540   IPI00982052   IPI01014508   IPI00975601   
Protein Interaction databases
DIP (DOE-UCLA)Q96G97
IntAct (EBI)Q96G97
FunCoupENSG00000168000
BioGRIDBSCL2
STRING (EMBL)BSCL2
ZODIACBSCL2
Ontologies - Pathways
QuickGOQ96G97
Ontology : AmiGOmolecular_function  protein binding  lipid catabolic process  lipid storage  integral component of endoplasmic reticulum membrane  lipid particle organization  fat cell differentiation  negative regulation of lipid catabolic process  
Ontology : EGO-EBImolecular_function  protein binding  lipid catabolic process  lipid storage  integral component of endoplasmic reticulum membrane  lipid particle organization  fat cell differentiation  negative regulation of lipid catabolic process  
NDEx NetworkBSCL2
Atlas of Cancer Signalling NetworkBSCL2
Wikipedia pathwaysBSCL2
Orthology - Evolution
OrthoDB26580
GeneTree (enSembl)ENSG00000168000
Phylogenetic Trees/Animal Genes : TreeFamBSCL2
HOVERGENQ96G97
HOGENOMQ96G97
Homologs : HomoloGeneBSCL2
Homology/Alignments : Family Browser (UCSC)BSCL2
Gene fusions - Rearrangements
Fusion: TCGAUBXN1 BSCL2
Fusion: TCGATUT1 BSCL2
Fusion: Tumor Portal BSCL2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBSCL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BSCL2
dbVarBSCL2
ClinVarBSCL2
1000_GenomesBSCL2 
Exome Variant ServerBSCL2
ExAC (Exome Aggregation Consortium)ENSG00000168000
GNOMAD BrowserENSG00000168000
Genetic variants : HAPMAP26580
Genomic Variants (DGV)BSCL2 [DGVbeta]
DECIPHERBSCL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBSCL2 
Mutations
ICGC Data PortalBSCL2 
TCGA Data PortalBSCL2 
Broad Tumor PortalBSCL2
OASIS PortalBSCL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBSCL2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBSCL2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BSCL2
DgiDB (Drug Gene Interaction Database)BSCL2
DoCM (Curated mutations)BSCL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BSCL2 (select a term)
intoGenBSCL2
Cancer3DBSCL2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM269700    270685    600794    606158    615924   
Orphanet1007    16916    22293    14709   
MedgenBSCL2
Genetic Testing Registry BSCL2
NextProtQ96G97 [Medical]
TSGene26580
GENETestsBSCL2
Target ValidationBSCL2
Huge Navigator BSCL2 [HugePedia]
snp3D : Map Gene to Disease26580
BioCentury BCIQBSCL2
ClinGenBSCL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26580
Chemical/Pharm GKB GenePA25432
Clinical trialBSCL2
Miscellaneous
canSAR (ICR)BSCL2 (select the gene name)
Probes
Litterature
PubMed75 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBSCL2
EVEXBSCL2
GoPubMedBSCL2
iHOPBSCL2
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 11:39:18 CET 2017

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