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BBS10 (Bardet-Biedl syndrome 10)

Identity

Alias_namesC12orf58
chromosome 12 open reading frame 58
Alias_symbol (synonym)FLJ23560
Other alias
HGNC (Hugo) BBS10
LocusID (NCBI) 79738
Atlas_Id 60715
Location 12q21.2  [Link to chromosome band 12q21]
Location_base_pair Starts at 76738266 and ends at 76742222 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BBS10 (12q21.2) / FGFR3 (4p16.3)

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)BBS10   26291
Cards
Entrez_Gene (NCBI)BBS10  79738  Bardet-Biedl syndrome 10
AliasesC12orf58
GeneCards (Weizmann)BBS10
Ensembl hg19 (Hinxton)ENSG00000179941 [Gene_View]  chr12:76738266-76742222 [Contig_View]  BBS10 [Vega]
Ensembl hg38 (Hinxton)ENSG00000179941 [Gene_View]  chr12:76738266-76742222 [Contig_View]  BBS10 [Vega]
ICGC DataPortalENSG00000179941
TCGA cBioPortalBBS10
AceView (NCBI)BBS10
Genatlas (Paris)BBS10
WikiGenes79738
SOURCE (Princeton)BBS10
Genetics Home Reference (NIH)BBS10
Genomic and cartography
GoldenPath hg19 (UCSC)BBS10  -     chr12:76738266-76742222 -  12q21.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BBS10  -     12q21.2   [Description]    (hg38-Dec_2013)
EnsemblBBS10 - 12q21.2 [CytoView hg19]  BBS10 - 12q21.2 [CytoView hg38]
Mapping of homologs : NCBIBBS10 [Mapview hg19]  BBS10 [Mapview hg38]
OMIM610148   615987   
Gene and transcription
Genbank (Entrez)AI673014 AK027213 AK225585 AK304178 BC013795
RefSeq transcript (Entrez)NM_024685
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_016357 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)BBS10
Cluster EST : UnigeneHs.96322 [ NCBI ]
CGAP (NCI)Hs.96322
Alternative Splicing GalleryENSG00000179941
Gene ExpressionBBS10 [ NCBI-GEO ]   BBS10 [ EBI - ARRAY_EXPRESS ]   BBS10 [ SEEK ]   BBS10 [ MEM ]
Gene Expression Viewer (FireBrowse)BBS10 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79738
GTEX Portal (Tissue expression)BBS10
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TAM1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TAM1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TAM1
Splice isoforms : SwissVarQ8TAM1
PhosPhoSitePlusQ8TAM1
Domains : Interpro (EBI)Cpn60/TCP-1    GROEL-like_equatorial   
Domain families : Pfam (Sanger)Cpn60_TCP1 (PF00118)   
Domain families : Pfam (NCBI)pfam00118   
Conserved Domain (NCBI)BBS10
DMDM Disease mutations79738
Blocks (Seattle)BBS10
SuperfamilyQ8TAM1
Human Protein AtlasENSG00000179941
Peptide AtlasQ8TAM1
HPRD08036
IPIIPI00742775   IPI01022356   
Protein Interaction databases
DIP (DOE-UCLA)Q8TAM1
IntAct (EBI)Q8TAM1
FunCoupENSG00000179941
BioGRIDBBS10
STRING (EMBL)BBS10
ZODIACBBS10
Ontologies - Pathways
QuickGOQ8TAM1
Ontology : AmiGORNA polymerase II repressing transcription factor binding  retina homeostasis  protein binding  ATP binding  cilium  visual perception  nonmotile primary cilium assembly  regulation of protein complex assembly  photoreceptor cell maintenance  response to stimulus  chaperone-mediated protein complex assembly  
Ontology : EGO-EBIRNA polymerase II repressing transcription factor binding  retina homeostasis  protein binding  ATP binding  cilium  visual perception  nonmotile primary cilium assembly  regulation of protein complex assembly  photoreceptor cell maintenance  response to stimulus  chaperone-mediated protein complex assembly  
NDEx NetworkBBS10
Atlas of Cancer Signalling NetworkBBS10
Wikipedia pathwaysBBS10
Orthology - Evolution
OrthoDB79738
GeneTree (enSembl)ENSG00000179941
Phylogenetic Trees/Animal Genes : TreeFamBBS10
HOVERGENQ8TAM1
HOGENOMQ8TAM1
Homologs : HomoloGeneBBS10
Homology/Alignments : Family Browser (UCSC)BBS10
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBBS10 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BBS10
dbVarBBS10
ClinVarBBS10
1000_GenomesBBS10 
Exome Variant ServerBBS10
ExAC (Exome Aggregation Consortium)BBS10 (select the gene name)
Genetic variants : HAPMAP79738
Genomic Variants (DGV)BBS10 [DGVbeta]
DECIPHER (Syndromes)12:76738266-76742222  ENSG00000179941
CONAN: Copy Number AnalysisBBS10 
Mutations
ICGC Data PortalBBS10 
TCGA Data PortalBBS10 
Broad Tumor PortalBBS10
OASIS PortalBBS10 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBBS10  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBBS10
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 BBS10
DgiDB (Drug Gene Interaction Database)BBS10
DoCM (Curated mutations)BBS10 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BBS10 (select a term)
intoGenBBS10
Cancer3DBBS10(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610148    615987   
Orphanet3244   
MedgenBBS10
Genetic Testing Registry BBS10
NextProtQ8TAM1 [Medical]
TSGene79738
GENETestsBBS10
Huge Navigator BBS10 [HugePedia]
snp3D : Map Gene to Disease79738
BioCentury BCIQBBS10
ClinGenBBS10
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79738
Chemical/Pharm GKB GenePA143485387
Clinical trialBBS10
Miscellaneous
canSAR (ICR)BBS10 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBBS10
EVEXBBS10
GoPubMedBBS10
iHOPBBS10
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:55:42 CET 2017

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