Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

BBS4 (Bardet-Biedl syndrome 4)

Identity

Other alias-
HGNC (Hugo) BBS4
LocusID (NCBI) 585
Atlas_Id 60718
Location 15q24.1  [Link to chromosome band 15q24]
Location_base_pair Starts at 72686179 and ends at 72738476 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)
BBS4 (15q24.1) / TTC23 (15q26.3)

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)BBS4   969
Cards
Entrez_Gene (NCBI)BBS4  585  Bardet-Biedl syndrome 4
Aliases
GeneCards (Weizmann)BBS4
Ensembl hg19 (Hinxton)ENSG00000140463 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000140463 [Gene_View]  chr15:72686179-72738476 [Contig_View]  BBS4 [Vega]
ICGC DataPortalENSG00000140463
TCGA cBioPortalBBS4
AceView (NCBI)BBS4
Genatlas (Paris)BBS4
WikiGenes585
SOURCE (Princeton)BBS4
Genetics Home Reference (NIH)BBS4
Genomic and cartography
GoldenPath hg38 (UCSC)BBS4  -     chr15:72686179-72738476 +  15q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BBS4  -     15q24.1   [Description]    (hg19-Feb_2009)
EnsemblBBS4 - 15q24.1 [CytoView hg19]  BBS4 - 15q24.1 [CytoView hg38]
Mapping of homologs : NCBIBBS4 [Mapview hg19]  BBS4 [Mapview hg38]
OMIM209900   600374   615982   
Gene and transcription
Genbank (Entrez)AF359281 AK075321 AK298922 AK302224 AK303706
RefSeq transcript (Entrez)NM_001252678 NM_001320665 NM_033028
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BBS4
Cluster EST : UnigeneHs.208681 [ NCBI ]
CGAP (NCI)Hs.208681
Alternative Splicing GalleryENSG00000140463
Gene ExpressionBBS4 [ NCBI-GEO ]   BBS4 [ EBI - ARRAY_EXPRESS ]   BBS4 [ SEEK ]   BBS4 [ MEM ]
Gene Expression Viewer (FireBrowse)BBS4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)585
GTEX Portal (Tissue expression)BBS4
Human Protein AtlasENSG00000140463-BBS4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96RK4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96RK4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96RK4
Splice isoforms : SwissVarQ96RK4
PhosPhoSitePlusQ96RK4
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)BBS4    TPR-contain_dom    TPR-like_helical_dom    TPR_repeat   
Domain families : Pfam (Sanger)TPR_11 (PF13414)    TPR_8 (PF13181)   
Domain families : Pfam (NCBI)pfam13414    pfam13181   
Domain families : Smart (EMBL)TPR (SM00028)  
Conserved Domain (NCBI)BBS4
DMDM Disease mutations585
Blocks (Seattle)BBS4
SuperfamilyQ96RK4
Human Protein Atlas [tissue]ENSG00000140463-BBS4 [tissue]
Peptide AtlasQ96RK4
HPRD08982
IPIIPI00798373   IPI00290189   IPI01015626   IPI01009834   
Protein Interaction databases
DIP (DOE-UCLA)Q96RK4
IntAct (EBI)Q96RK4
FunCoupENSG00000140463
BioGRIDBBS4
STRING (EMBL)BBS4
ZODIACBBS4
Ontologies - Pathways
QuickGOQ96RK4
Ontology : AmiGOmicrotubule cytoskeleton organization  pericentriolar material  mitotic cytokinesis  RNA polymerase II repressing transcription factor binding  photoreceptor outer segment  neuron migration  neural tube closure  retina homeostasis  photoreceptor inner segment  heart looping  negative regulation of systemic arterial blood pressure  microtubule motor activity  protein binding  nucleus  centrosome  centriole  cytosol  cytosol  cilium  centrosome cycle  spermatid development  visual perception  sensory perception of smell  negative regulation of gene expression  protein transport  dendrite development  regulation of lipid metabolic process  ventricular system development  striatum development  hippocampus development  cerebral cortex development  adult behavior  negative regulation of actin filament polymerization  motile cilium  photoreceptor connecting cilium  melanosome transport  regulation of cytokinesis  protein localization to organelle  negative regulation of GTPase activity  centriolar satellite  dynactin binding  microtubule anchoring at centrosome  BBSome  social behavior  photoreceptor cell outer segment organization  ciliary transition zone  ciliary basal body  negative regulation of appetite by leptin-mediated signaling pathway  positive regulation of multicellular organism growth  alpha-tubulin binding  fat cell differentiation  photoreceptor cell maintenance  positive regulation of cilium assembly  retinal rod cell development  intracellular transport  beta-tubulin binding  brain morphogenesis  sensory processing  maintenance of protein location in nucleus  regulation of stress fiber assembly  ciliary membrane  cilium assembly  regulation of cilium beat frequency involved in ciliary motility  face development  fat pad development  protein localization to cilium  protein localization to centrosome  non-motile cilium  regulation of non-motile cilium assembly  protein localization to photoreceptor outer segment  non-motile cilium assembly  
Ontology : EGO-EBImicrotubule cytoskeleton organization  pericentriolar material  mitotic cytokinesis  RNA polymerase II repressing transcription factor binding  photoreceptor outer segment  neuron migration  neural tube closure  retina homeostasis  photoreceptor inner segment  heart looping  negative regulation of systemic arterial blood pressure  microtubule motor activity  protein binding  nucleus  centrosome  centriole  cytosol  cytosol  cilium  centrosome cycle  spermatid development  visual perception  sensory perception of smell  negative regulation of gene expression  protein transport  dendrite development  regulation of lipid metabolic process  ventricular system development  striatum development  hippocampus development  cerebral cortex development  adult behavior  negative regulation of actin filament polymerization  motile cilium  photoreceptor connecting cilium  melanosome transport  regulation of cytokinesis  protein localization to organelle  negative regulation of GTPase activity  centriolar satellite  dynactin binding  microtubule anchoring at centrosome  BBSome  social behavior  photoreceptor cell outer segment organization  ciliary transition zone  ciliary basal body  negative regulation of appetite by leptin-mediated signaling pathway  positive regulation of multicellular organism growth  alpha-tubulin binding  fat cell differentiation  photoreceptor cell maintenance  positive regulation of cilium assembly  retinal rod cell development  intracellular transport  beta-tubulin binding  brain morphogenesis  sensory processing  maintenance of protein location in nucleus  regulation of stress fiber assembly  ciliary membrane  cilium assembly  regulation of cilium beat frequency involved in ciliary motility  face development  fat pad development  protein localization to cilium  protein localization to centrosome  non-motile cilium  regulation of non-motile cilium assembly  protein localization to photoreceptor outer segment  non-motile cilium assembly  
NDEx NetworkBBS4
Atlas of Cancer Signalling NetworkBBS4
Wikipedia pathwaysBBS4
Orthology - Evolution
OrthoDB585
GeneTree (enSembl)ENSG00000140463
Phylogenetic Trees/Animal Genes : TreeFamBBS4
HOVERGENQ96RK4
HOGENOMQ96RK4
Homologs : HomoloGeneBBS4
Homology/Alignments : Family Browser (UCSC)BBS4
Gene fusions - Rearrangements
Tumor Fusion PortalBBS4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBBS4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BBS4
dbVarBBS4
ClinVarBBS4
1000_GenomesBBS4 
Exome Variant ServerBBS4
ExAC (Exome Aggregation Consortium)ENSG00000140463
GNOMAD BrowserENSG00000140463
Genetic variants : HAPMAP585
Genomic Variants (DGV)BBS4 [DGVbeta]
DECIPHERBBS4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBBS4 
Mutations
ICGC Data PortalBBS4 
TCGA Data PortalBBS4 
Broad Tumor PortalBBS4
OASIS PortalBBS4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBBS4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBBS4
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 BBS4
DgiDB (Drug Gene Interaction Database)BBS4
DoCM (Curated mutations)BBS4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BBS4 (select a term)
intoGenBBS4
Cancer3DBBS4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM209900    600374    615982   
Orphanet3244   
DisGeNETBBS4
MedgenBBS4
Genetic Testing Registry BBS4
NextProtQ96RK4 [Medical]
TSGene585
GENETestsBBS4
Target ValidationBBS4
Huge Navigator BBS4 [HugePedia]
snp3D : Map Gene to Disease585
BioCentury BCIQBBS4
ClinGenBBS4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD585
Chemical/Pharm GKB GenePA25278
Clinical trialBBS4
Miscellaneous
canSAR (ICR)BBS4 (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBBS4
EVEXBBS4
GoPubMedBBS4
iHOPBBS4
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 13:30:57 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.