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BBS1 (Bardet-Biedl syndrome 1)

Identity

Alias_symbol (synonym)FLJ23590
Other aliasBBS2L2
HGNC (Hugo) BBS1
LocusID (NCBI) 582
Atlas_Id 60714
Location 11q13.2  [Link to chromosome band 11q13]
Location_base_pair Starts at 66510648 and ends at 66533613 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)
BBS1 (11q13.2) / GFAP (17q21.31)C11orf80 (11q13.2) / BBS1 (11q13.2)

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)BBS1   966
Cards
Entrez_Gene (NCBI)BBS1  582  Bardet-Biedl syndrome 1
AliasesBBS2L2
GeneCards (Weizmann)BBS1
Ensembl hg19 (Hinxton)ENSG00000174483 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000174483 [Gene_View]  chr11:66510648-66533613 [Contig_View]  BBS1 [Vega]
ICGC DataPortalENSG00000174483
TCGA cBioPortalBBS1
AceView (NCBI)BBS1
Genatlas (Paris)BBS1
WikiGenes582
SOURCE (Princeton)BBS1
Genetics Home Reference (NIH)BBS1
Genomic and cartography
GoldenPath hg38 (UCSC)BBS1  -     chr11:66510648-66533613 +  11q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BBS1  -     11q13.2   [Description]    (hg19-Feb_2009)
EnsemblBBS1 - 11q13.2 [CytoView hg19]  BBS1 - 11q13.2 [CytoView hg38]
Mapping of homologs : NCBIBBS1 [Mapview hg19]  BBS1 [Mapview hg38]
OMIM209900   209901   
Gene and transcription
Genbank (Entrez)AF503941 AK027243 AK095638 AK294962 AK296311
RefSeq transcript (Entrez)NM_024649
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BBS1
Cluster EST : UnigeneHs.502915 [ NCBI ]
CGAP (NCI)Hs.502915
Alternative Splicing GalleryENSG00000174483
Gene ExpressionBBS1 [ NCBI-GEO ]   BBS1 [ EBI - ARRAY_EXPRESS ]   BBS1 [ SEEK ]   BBS1 [ MEM ]
Gene Expression Viewer (FireBrowse)BBS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)582
GTEX Portal (Tissue expression)BBS1
Human Protein AtlasENSG00000174483-BBS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NFJ9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NFJ9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NFJ9
Splice isoforms : SwissVarQ8NFJ9
PhosPhoSitePlusQ8NFJ9
Domains : Interpro (EBI)BBS1    BBS1_N    Quinoprotein_ADH-like_supfam    WD40/YVTN_repeat-like_dom   
Domain families : Pfam (Sanger)BBS1 (PF14779)   
Domain families : Pfam (NCBI)pfam14779   
Conserved Domain (NCBI)BBS1
DMDM Disease mutations582
Blocks (Seattle)BBS1
SuperfamilyQ8NFJ9
Human Protein Atlas [tissue]ENSG00000174483-BBS1 [tissue]
Peptide AtlasQ8NFJ9
HPRD01950
IPIIPI00334007   IPI00045840   IPI00956389   IPI00645051   IPI00956642   IPI00956436   IPI00956400   IPI00002885   IPI00981180   IPI00909042   IPI00655757   IPI00984572   IPI00983077   IPI00975676   IPI00984366   IPI00977104   
Protein Interaction databases
DIP (DOE-UCLA)Q8NFJ9
IntAct (EBI)Q8NFJ9
FunCoupENSG00000174483
BioGRIDBBS1
STRING (EMBL)BBS1
ZODIACBBS1
Ontologies - Pathways
QuickGOQ8NFJ9
Ontology : AmiGORNA polymerase II repressing transcription factor binding  retina homeostasis  patched binding  smoothened binding  protein binding  centrosome  cytosol  axoneme  visual perception  BBSome  ciliary basal body  Golgi to plasma membrane protein transport  photoreceptor cell maintenance  response to stimulus  ciliary membrane  cilium assembly  protein localization to cilium  non-motile cilium assembly  
Ontology : EGO-EBIRNA polymerase II repressing transcription factor binding  retina homeostasis  patched binding  smoothened binding  protein binding  centrosome  cytosol  axoneme  visual perception  BBSome  ciliary basal body  Golgi to plasma membrane protein transport  photoreceptor cell maintenance  response to stimulus  ciliary membrane  cilium assembly  protein localization to cilium  non-motile cilium assembly  
NDEx NetworkBBS1
Atlas of Cancer Signalling NetworkBBS1
Wikipedia pathwaysBBS1
Orthology - Evolution
OrthoDB582
GeneTree (enSembl)ENSG00000174483
Phylogenetic Trees/Animal Genes : TreeFamBBS1
HOVERGENQ8NFJ9
HOGENOMQ8NFJ9
Homologs : HomoloGeneBBS1
Homology/Alignments : Family Browser (UCSC)BBS1
Gene fusions - Rearrangements
Fusion: Tumor Portal BBS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBBS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BBS1
dbVarBBS1
ClinVarBBS1
1000_GenomesBBS1 
Exome Variant ServerBBS1
ExAC (Exome Aggregation Consortium)ENSG00000174483
GNOMAD BrowserENSG00000174483
Genetic variants : HAPMAP582
Genomic Variants (DGV)BBS1 [DGVbeta]
DECIPHERBBS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBBS1 
Mutations
ICGC Data PortalBBS1 
TCGA Data PortalBBS1 
Broad Tumor PortalBBS1
OASIS PortalBBS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBBS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBBS1
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)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)EURO-WABB PROJECT OPEN VARIATION DATABASE
BioMutasearch BBS1
DgiDB (Drug Gene Interaction Database)BBS1
DoCM (Curated mutations)BBS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BBS1 (select a term)
intoGenBBS1
Cancer3DBBS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM209900    209901   
Orphanet3244   
MedgenBBS1
Genetic Testing Registry BBS1
NextProtQ8NFJ9 [Medical]
TSGene582
GENETestsBBS1
Target ValidationBBS1
Huge Navigator BBS1 [HugePedia]
snp3D : Map Gene to Disease582
BioCentury BCIQBBS1
ClinGenBBS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD582
Chemical/Pharm GKB GenePA25275
Clinical trialBBS1
Miscellaneous
canSAR (ICR)BBS1 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBBS1
EVEXBBS1
GoPubMedBBS1
iHOPBBS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 11:38:56 CET 2017

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