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BBS5 (Bardet-Biedl syndrome 5)

Identity

Alias_symbol (synonym)DKFZp762I194
Other alias-
HGNC (Hugo) BBS5
LocusID (NCBI) 129880
Atlas_Id 60719
Location 2q31.1  [Link to chromosome band 2q31]
Location_base_pair Starts at 169479496 and ends at 169506655 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BBS5 (2q31.1) / KIAA1328 (18q12.2)DNAJC7 (17q21.2) / BBS5 (2q31.1)

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)BBS5   970
Cards
Entrez_Gene (NCBI)BBS5  129880  Bardet-Biedl syndrome 5
Aliases
GeneCards (Weizmann)BBS5
Ensembl hg19 (Hinxton)ENSG00000163093 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163093 [Gene_View]  chr2:169479496-169506655 [Contig_View]  BBS5 [Vega]
ICGC DataPortalENSG00000163093
TCGA cBioPortalBBS5
AceView (NCBI)BBS5
Genatlas (Paris)BBS5
WikiGenes129880
SOURCE (Princeton)BBS5
Genetics Home Reference (NIH)BBS5
Genomic and cartography
GoldenPath hg38 (UCSC)BBS5  -     chr2:169479496-169506655 +  2q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BBS5  -     2q31.1   [Description]    (hg19-Feb_2009)
EnsemblBBS5 - 2q31.1 [CytoView hg19]  BBS5 - 2q31.1 [CytoView hg38]
Mapping of homologs : NCBIBBS5 [Mapview hg19]  BBS5 [Mapview hg38]
OMIM603650   615983   
Gene and transcription
Genbank (Entrez)AA043704 AK097935 AK312680 AL834305 AM393220
RefSeq transcript (Entrez)NM_152384
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BBS5
Cluster EST : UnigeneHs.233398 [ NCBI ]
CGAP (NCI)Hs.233398
Alternative Splicing GalleryENSG00000163093
Gene ExpressionBBS5 [ NCBI-GEO ]   BBS5 [ EBI - ARRAY_EXPRESS ]   BBS5 [ SEEK ]   BBS5 [ MEM ]
Gene Expression Viewer (FireBrowse)BBS5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)129880
GTEX Portal (Tissue expression)BBS5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N3I7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N3I7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N3I7
Splice isoforms : SwissVarQ8N3I7
PhosPhoSitePlusQ8N3I7
Domains : Interpro (EBI)BBL5    BBS5/fem-3    DM16_repeat    PH_dom-like   
Domain families : Pfam (Sanger)BBL5 (PF07289)   
Domain families : Pfam (NCBI)pfam07289   
Domain families : Smart (EMBL)DM16 (SM00683)  
Conserved Domain (NCBI)BBS5
DMDM Disease mutations129880
Blocks (Seattle)BBS5
SuperfamilyQ8N3I7
Human Protein AtlasENSG00000163093
Peptide AtlasQ8N3I7
HPRD10353
IPIIPI00449306   IPI00719289   IPI00916146   IPI00908420   
Protein Interaction databases
DIP (DOE-UCLA)Q8N3I7
IntAct (EBI)Q8N3I7
FunCoupENSG00000163093
BioGRIDBBS5
STRING (EMBL)BBS5
ZODIACBBS5
Ontologies - Pathways
QuickGOQ8N3I7
Ontology : AmiGORNA polymerase II repressing transcription factor binding  heart looping  protein binding  intracellular  cytosol  visual perception  protein transport  phosphatidylinositol-3-phosphate binding  melanosome transport  BBSome  ciliary basal body  ciliary basal body  motile cilium assembly  intracellular transport  response to stimulus  ciliary membrane  cilium assembly  
Ontology : EGO-EBIRNA polymerase II repressing transcription factor binding  heart looping  protein binding  intracellular  cytosol  visual perception  protein transport  phosphatidylinositol-3-phosphate binding  melanosome transport  BBSome  ciliary basal body  ciliary basal body  motile cilium assembly  intracellular transport  response to stimulus  ciliary membrane  cilium assembly  
NDEx NetworkBBS5
Atlas of Cancer Signalling NetworkBBS5
Wikipedia pathwaysBBS5
Orthology - Evolution
OrthoDB129880
GeneTree (enSembl)ENSG00000163093
Phylogenetic Trees/Animal Genes : TreeFamBBS5
HOVERGENQ8N3I7
HOGENOMQ8N3I7
Homologs : HomoloGeneBBS5
Homology/Alignments : Family Browser (UCSC)BBS5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBBS5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BBS5
dbVarBBS5
ClinVarBBS5
1000_GenomesBBS5 
Exome Variant ServerBBS5
ExAC (Exome Aggregation Consortium)BBS5 (select the gene name)
Genetic variants : HAPMAP129880
Genomic Variants (DGV)BBS5 [DGVbeta]
DECIPHERBBS5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBBS5 
Mutations
ICGC Data PortalBBS5 
TCGA Data PortalBBS5 
Broad Tumor PortalBBS5
OASIS PortalBBS5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBBS5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBBS5
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 BBS5
DgiDB (Drug Gene Interaction Database)BBS5
DoCM (Curated mutations)BBS5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BBS5 (select a term)
intoGenBBS5
Cancer3DBBS5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603650    615983   
Orphanet3244   
MedgenBBS5
Genetic Testing Registry BBS5
NextProtQ8N3I7 [Medical]
TSGene129880
GENETestsBBS5
Target ValidationBBS5
Huge Navigator BBS5 [HugePedia]
snp3D : Map Gene to Disease129880
BioCentury BCIQBBS5
ClinGenBBS5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD129880
Chemical/Pharm GKB GenePA25279
Clinical trialBBS5
Miscellaneous
canSAR (ICR)BBS5 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBBS5
EVEXBBS5
GoPubMedBBS5
iHOPBBS5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:02:14 CEST 2017

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