Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BBS7 (Bardet-Biedl syndrome 7)

Identity

Alias_symbol (synonym)FLJ10715
BBS2L1
Other alias
HGNC (Hugo) BBS7
LocusID (NCBI) 55212
Atlas_Id 60720
Location 4q27  [Link to chromosome band 4q27]
Location_base_pair Starts at 121827727 and ends at 121870497 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)

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)BBS7   18758
Cards
Entrez_Gene (NCBI)BBS7  55212  Bardet-Biedl syndrome 7
AliasesBBS2L1
GeneCards (Weizmann)BBS7
Ensembl hg19 (Hinxton)ENSG00000138686 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138686 [Gene_View]  chr4:121827727-121870497 [Contig_View]  BBS7 [Vega]
ICGC DataPortalENSG00000138686
TCGA cBioPortalBBS7
AceView (NCBI)BBS5
Genatlas (Paris)BBS7
WikiGenes55212
SOURCE (Princeton)BBS7
Genetics Home Reference (NIH)BBS7
Genomic and cartography
GoldenPath hg38 (UCSC)BBS7  -     chr4:121827727-121870497 -  4q27   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BBS7  -     4q27   [Description]    (hg19-Feb_2009)
EnsemblBBS7 - 4q27 [CytoView hg19]  BBS7 - 4q27 [CytoView hg38]
Mapping of homologs : NCBIBBS7 [Mapview hg19]  BBS7 [Mapview hg38]
OMIM607590   615984   
Gene and transcription
Genbank (Entrez)AF521643 AF521644 AI220177 AK001577 AK308076
RefSeq transcript (Entrez)NM_018190 NM_176824
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BBS7
Cluster EST : UnigeneHs.591694 [ NCBI ]
CGAP (NCI)Hs.591694
Alternative Splicing GalleryENSG00000138686
Gene ExpressionBBS7 [ NCBI-GEO ]   BBS7 [ EBI - ARRAY_EXPRESS ]   BBS7 [ SEEK ]   BBS7 [ MEM ] Gene Expression Viewer (FireBrowse)BBS7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55212
GTEX Portal (Tissue expression)BBS7
Human Protein AtlasENSG00000138686-BBS7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IWZ6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IWZ6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IWZ6
Splice isoforms : SwissVarQ8IWZ6
PhosPhoSitePlusQ8IWZ6
Domains : Interpro (EBI)Bardet-Biedl_syndrome_7_prot    WD40/YVTN_repeat-like_dom    WD40_repeat_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)BBS7
DMDM Disease mutations55212
Blocks (Seattle)BBS7
SuperfamilyQ8IWZ6
Human Protein Atlas [tissue]ENSG00000138686-BBS7 [tissue]
Peptide AtlasQ8IWZ6
HPRD07399
IPIIPI00293235   IPI00383870   IPI00968122   
Protein Interaction databases
DIP (DOE-UCLA)Q8IWZ6
IntAct (EBI)Q8IWZ6
FunCoupENSG00000138686
BioGRIDBBS7
STRING (EMBL)BBS7
ZODIACBBS7
Ontologies - Pathways
QuickGOQ8IWZ6
Ontology : AmiGORNA polymerase II repressing transcription factor binding  eye development  photoreceptor outer segment  heart looping  protein binding  nucleus  centrosome  cytosol  axoneme  regulation of transcription from RNA polymerase II promoter  smoothened signaling pathway  determination of left/right symmetry  brain development  visual perception  protein localization  protein transport  membrane  melanosome transport  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  BBSome  ciliary basal body  fat cell differentiation  intracellular transport  digestive tract morphogenesis  pigment granule aggregation in cell center  palate development  ciliary membrane  limb development  cilium assemb|ycilium assembly  non-motile cilium assembly  
Ontology : EGO-EBIRNA polymerase II repressing transcription factor binding  eye development  photoreceptor outer segment  heart looping  protein binding  nucleus  centrosome  cytosol  axoneme  regulation of transcription from RNA polymerase II promoter  smoothened signaling pathway  determination of left/right symmetry  brain development  visual perception  protein localization  protein transport  membrane  melanosome transport  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  BBSome  ciliary basal body  fat cell differentiation  intracellular transport  digestive tract morphogenesis  pigment granule aggregation in cell center  palate development  ciliary membrane  limb development  cilium assembly  cilium assembly  non-motile cilium assembly  
NDEx NetworkBBS7
Atlas of Cancer Signalling NetworkBBS7
Wikipedia pathwaysBBS7
Orthology - Evolution
OrthoDB55212
GeneTree (enSembl)ENSG00000138686
Phylogenetic Trees/Animal Genes : TreeFamBBS7
HOVERGENQ8IWZ6
HOGENOMQ8IWZ6
Homologs : HomoloGeneBBS7
Homology/Alignments : Family Browser (UCSC)BBS7
Gene fusions - Rearrangements
Tumor Fusion PortalBBS7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBBS7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BBS7
dbVarBBS7
ClinVarBBS7
1000_GenomesBBS7 
Exome Variant ServerBBS7
ExAC (Exome Aggregation Consortium)ENSG00000138686
GNOMAD BrowserENSG00000138686
Genetic variants : HAPMAP55212
Genomic Variants (DGV)BBS7 [DGVbeta]
DECIPHERBBS7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBBS7 
Mutations
ICGC Data PortalBBS7 
TCGA Data PortalBBS7 
Broad Tumor PortalBBS7
OASIS PortalBBS7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBBS7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBBS7
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 BBS7
DgiDB (Drug Gene Interaction Database)BBS7
DoCM (Curated mutations)BBS7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BBS7 (select a term)
intoGenBBS7
Cancer3DBBS7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607590    615984   
Orphanet3244   
DisGeNETBBS7
MedgenBBS7
Genetic Testing Registry BBS7
NextProtQ8IWZ6 [Medical]
TSGene55212
GANeTestsBBS7
Target ValidationBBS7
Huge Navigator BBS7 [HugePedia]
snp3D : Map Gene to Disease55212
BioCentury BCIQBBS7
ClinGenBBS7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55212
Chemical/Pharm GKB GenePA134923753
Clinical trialBBS7
Miscellaneous
canSAR (ICR)BBS7 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBBS7
EVEXBBS7
GoPubMedBBS7
iHOPBBS7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:09:37 CET 2017

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