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BBS1 (Bardet-Biedl syndrome 1)

Identity

Alias (NCBI)BBS2L2
HGNC (Hugo) BBS1
HGNC Alias symbFLJ23590
LocusID (NCBI) 582
Atlas_Id 60714
Location 11q13.2  [Link to chromosome band 11q13]
Location_base_pair Starts at 66510635 and ends at 66533598 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    Bardet-Biedl syndrome 1
AliasesBBS2L2
GeneCards (Weizmann)BBS1
Ensembl hg19 (Hinxton)ENSG00000174483 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000174483 [Gene_View]  ENSG00000174483 [Sequence]  chr11:66510635-66533598 [Contig_View]  BBS1 [Vega]
ICGC DataPortalENSG00000174483
TCGA cBioPortalBBS1
AceView (NCBI)BBS1
Genatlas (Paris)BBS1
SOURCE (Princeton)BBS1
Genetics Home Reference (NIH)BBS1
Genomic and cartography
GoldenPath hg38 (UCSC)BBS1  -     chr11:66510635-66533598 +  11q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BBS1  -     11q13.2   [Description]    (hg19-Feb_2009)
GoldenPathBBS1 - 11q13.2 [CytoView hg19]  BBS1 - 11q13.2 [CytoView hg38]
ImmunoBaseENSG00000174483
Genome Data Viewer NCBIBBS1 [Mapview hg19]  
OMIM209900   209901   
Gene and transcription
Genbank (Entrez)AF503941 AK027243 AK095638 AK294962 AK296311
RefSeq transcript (Entrez)NM_024649
Consensus coding sequences : CCDS (NCBI)BBS1
Gene ExpressionBBS1 [ NCBI-GEO ]   BBS1 [ EBI - ARRAY_EXPRESS ]   BBS1 [ SEEK ]   BBS1 [ MEM ]
Gene Expression Viewer (FireBrowse)BBS1 [ Firebrowse - Broad ]
GenevisibleExpression of BBS1 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
PhosPhoSitePlusQ8NFJ9
Domains : Interpro (EBI)BBS1    BBS1_N    Quinoprotein_ADH-like_supfam   
Domain families : Pfam (Sanger)BBS1 (PF14779)   
Domain families : Pfam (NCBI)pfam14779   
Conserved Domain (NCBI)BBS1
PDB (RSDB)6XT9   
PDB Europe6XT9   
PDB (PDBSum)6XT9   
PDB (IMB)6XT9   
Structural Biology KnowledgeBase6XT9   
SCOP (Structural Classification of Proteins)6XT9   
CATH (Classification of proteins structures)6XT9   
SuperfamilyQ8NFJ9
AlphaFold pdb e-kbQ8NFJ9   
Human Protein Atlas [tissue]ENSG00000174483-BBS1 [tissue]
HPRD01950
Protein Interaction databases
DIP (DOE-UCLA)Q8NFJ9
IntAct (EBI)Q8NFJ9
BioGRIDBBS1
STRING (EMBL)BBS1
ZODIACBBS1
Ontologies - Pathways
QuickGOQ8NFJ9
Ontology : AmiGOpatched binding  patched binding  smoothened binding  smoothened binding  protein binding  centrosome  centrosome  cytosol  axoneme  visual perception  sensory perception of smell  BBSome  BBSome  ciliary basal body  Golgi to plasma membrane protein transport  photoreceptor cell maintenance  response to stimulus  ciliary membrane  cilium assembly  cilium assembly  protein localization to cilium  protein localization to cilium  RNA polymerase II-specific DNA-binding transcription factor binding  non-motile cilium assembly  non-motile cilium assembly  
Ontology : EGO-EBIpatched binding  patched binding  smoothened binding  smoothened binding  protein binding  centrosome  centrosome  cytosol  axoneme  visual perception  sensory perception of smell  BBSome  BBSome  ciliary basal body  Golgi to plasma membrane protein transport  photoreceptor cell maintenance  response to stimulus  ciliary membrane  cilium assembly  cilium assembly  protein localization to cilium  protein localization to cilium  RNA polymerase II-specific DNA-binding transcription factor binding  non-motile cilium assembly  non-motile cilium assembly  
NDEx NetworkBBS1
Atlas of Cancer Signalling NetworkBBS1
Wikipedia pathwaysBBS1
Orthology - Evolution
OrthoDB582
GeneTree (enSembl)ENSG00000174483
Phylogenetic Trees/Animal Genes : TreeFamBBS1
Homologs : HomoloGeneBBS1
Homology/Alignments : Family Browser (UCSC)BBS1
Gene fusions - Rearrangements
Fusion : QuiverBBS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBBS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BBS1
dbVarBBS1
ClinVarBBS1
MonarchBBS1
1000_GenomesBBS1 
Exome Variant ServerBBS1
GNOMAD BrowserENSG00000174483
Varsome BrowserBBS1
ACMGBBS1 variants
VarityQ8NFJ9
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]  
Somatic Mutations in Cancer : COSMIC3DBBS1
Mutations and Diseases : HGMDBBS1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaBBS1
DgiDB (Drug Gene Interaction Database)BBS1
DoCM (Curated mutations)BBS1
CIViC (Clinical Interpretations of Variants in Cancer)BBS1
Cancer3DBBS1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM209900    209901   
Orphanet3244   
DisGeNETBBS1
MedgenBBS1
Genetic Testing Registry BBS1
NextProtQ8NFJ9 [Medical]
GENETestsBBS1
Target ValidationBBS1
Huge Navigator BBS1 [HugePedia]
ClinGenBBS1
Clinical trials, drugs, therapy
MyCancerGenomeBBS1
Protein Interactions : CTDBBS1
Pharm GKB GenePA25275
PharosQ8NFJ9
Clinical trialBBS1
Miscellaneous
canSAR (ICR)BBS1
HarmonizomeBBS1
DataMed IndexBBS1
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXBBS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:43:12 CEST 2021

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