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BBS9 (Bardet-Biedl syndrome 9)

Identity

Alias_symbol (synonym)B1
PTHB1
Other aliasC18
D1
HGNC (Hugo) BBS9
LocusID (NCBI) 27241
Atlas_Id 43610
Location 7p14.3  [Link to chromosome band 7p14]
Location_base_pair Starts at 33129540 and ends at 33606068 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BBS9 (7p14.3) / AVL9 (7p14.3)BBS9 (7p14.3) / FKBP9 (7p14.3)BBS9 (7p14.3) / PKD1L1 (7p12.3)
EMSY (11q13.5) / BBS9 (7p14.3)TMEFF2 (2q32.3) / BBS9 (7p14.3)BBS9 7p14.3 / PKD1L1 7p12.3
BBS9 7p14.3 / AVL9 7p14.3C11orf30 11q13.5 / BBS9 7p14.3

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)BBS9   30000
Cards
Entrez_Gene (NCBI)BBS9  27241  Bardet-Biedl syndrome 9
AliasesB1; C18; D1; PTHB1
GeneCards (Weizmann)BBS9
Ensembl hg19 (Hinxton)ENSG00000122507 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000122507 [Gene_View]  chr7:33129540-33606068 [Contig_View]  BBS9 [Vega]
ICGC DataPortalENSG00000122507
TCGA cBioPortalBBS9
AceView (NCBI)BBS9
Genatlas (Paris)BBS9
WikiGenes27241
SOURCE (Princeton)BBS9
Genetics Home Reference (NIH)BBS9
Genomic and cartography
GoldenPath hg38 (UCSC)BBS9  -     chr7:33129540-33606068 +  7p14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BBS9  -     7p14.3   [Description]    (hg19-Feb_2009)
EnsemblBBS9 - 7p14.3 [CytoView hg19]  BBS9 - 7p14.3 [CytoView hg38]
Mapping of homologs : NCBIBBS9 [Mapview hg19]  BBS9 [Mapview hg38]
OMIM607968   615986   
Gene and transcription
Genbank (Entrez)AF095769 AF095770 AF095771 AK057660 AK091361
RefSeq transcript (Entrez)NM_001033604 NM_001033605 NM_001348036 NM_001348037 NM_001348038 NM_001348039 NM_001348040 NM_001348041 NM_001348042 NM_001348043 NM_001348044 NM_001348045 NM_001348046 NM_014451 NM_198428
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BBS9
Cluster EST : UnigeneHs.372360 [ NCBI ]
CGAP (NCI)Hs.372360
Alternative Splicing GalleryENSG00000122507
Gene ExpressionBBS9 [ NCBI-GEO ]   BBS9 [ EBI - ARRAY_EXPRESS ]   BBS9 [ SEEK ]   BBS9 [ MEM ]
Gene Expression Viewer (FireBrowse)BBS9 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27241
GTEX Portal (Tissue expression)BBS9
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ3SYG4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ3SYG4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ3SYG4
Splice isoforms : SwissVarQ3SYG4
PhosPhoSitePlusQ3SYG4
Domains : Interpro (EBI)PHTB1_C_dom    PHTB1_N_dom    PTHB1   
Domain families : Pfam (Sanger)PHTB1_C (PF14728)    PHTB1_N (PF14727)   
Domain families : Pfam (NCBI)pfam14728    pfam14727   
Conserved Domain (NCBI)BBS9
DMDM Disease mutations27241
Blocks (Seattle)BBS9
PDB (SRS)4YD8   
PDB (PDBSum)4YD8   
PDB (IMB)4YD8   
PDB (RSDB)4YD8   
Structural Biology KnowledgeBase4YD8   
SCOP (Structural Classification of Proteins)4YD8   
CATH (Classification of proteins structures)4YD8   
SuperfamilyQ3SYG4
Human Protein AtlasENSG00000122507
Peptide AtlasQ3SYG4
HPRD16262
IPIIPI00479833   IPI00658164   IPI00477766   IPI00651741   IPI00166804   IPI00748340   IPI00940167   IPI00873415   IPI00872355   IPI01024963   IPI00872159   IPI00953261   
Protein Interaction databases
DIP (DOE-UCLA)Q3SYG4
IntAct (EBI)Q3SYG4
FunCoupENSG00000122507
BioGRIDBBS9
STRING (EMBL)BBS9
ZODIACBBS9
Ontologies - Pathways
QuickGOQ3SYG4
Ontology : AmiGOpericentriolar material  molecular_function  protein binding  cytosol  cilium  visual perception  protein transport  membrane  centriolar satellite  BBSome  ciliary transition zone  fat cell differentiation  response to stimulus  ciliary membrane  cilium assembly  protein localization to cilium  
Ontology : EGO-EBIpericentriolar material  molecular_function  protein binding  cytosol  cilium  visual perception  protein transport  membrane  centriolar satellite  BBSome  ciliary transition zone  fat cell differentiation  response to stimulus  ciliary membrane  cilium assembly  protein localization to cilium  
NDEx NetworkBBS9
Atlas of Cancer Signalling NetworkBBS9
Wikipedia pathwaysBBS9
Orthology - Evolution
OrthoDB27241
GeneTree (enSembl)ENSG00000122507
Phylogenetic Trees/Animal Genes : TreeFamBBS9
HOVERGENQ3SYG4
HOGENOMQ3SYG4
Homologs : HomoloGeneBBS9
Homology/Alignments : Family Browser (UCSC)BBS9
Gene fusions - Rearrangements
Fusion : MitelmanBBS9/AVL9 [7p14.3/7p14.3]  
Fusion : MitelmanC11orf30/BBS9 [11q13.5/7p14.3]  [t(7;11)(p14;q13)]  
Fusion: TCGABBS9 7p14.3 AVL9 7p14.3 LUAD
Fusion: TCGAC11orf30 11q13.5 BBS9 7p14.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBBS9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BBS9
dbVarBBS9
ClinVarBBS9
1000_GenomesBBS9 
Exome Variant ServerBBS9
ExAC (Exome Aggregation Consortium)BBS9 (select the gene name)
Genetic variants : HAPMAP27241
Genomic Variants (DGV)BBS9 [DGVbeta]
DECIPHERBBS9 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBBS9 
Mutations
ICGC Data PortalBBS9 
TCGA Data PortalBBS9 
Broad Tumor PortalBBS9
OASIS PortalBBS9 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBBS9  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBBS9
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 BBS9
DgiDB (Drug Gene Interaction Database)BBS9
DoCM (Curated mutations)BBS9 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BBS9 (select a term)
intoGenBBS9
Cancer3DBBS9(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607968    615986   
Orphanet3244   
MedgenBBS9
Genetic Testing Registry BBS9
NextProtQ3SYG4 [Medical]
TSGene27241
GENETestsBBS9
Target ValidationBBS9
Huge Navigator BBS9 [HugePedia]
snp3D : Map Gene to Disease27241
BioCentury BCIQBBS9
ClinGenBBS9
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27241
Chemical/Pharm GKB GenePA162377359
Clinical trialBBS9
Miscellaneous
canSAR (ICR)BBS9 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBBS9
EVEXBBS9
GoPubMedBBS9
iHOPBBS9
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 13:47:48 CEST 2017

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