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

BBS12 (Bardet-Biedl syndrome 12)

Identity

Alias_namesC4orf24
chromosome 4 open reading frame 24
Alias_symbol (synonym)FLJ35630
FLJ41559
Other alias
HGNC (Hugo) BBS12
LocusID (NCBI) 166379
Atlas_Id 60716
Location 4q27  [Link to chromosome band 4q27]
Location_base_pair Starts at 122732702 and ends at 122744943 bp from pter ( according to hg38-Dec_2013)

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)BBS12   26648
Cards
Entrez_Gene (NCBI)BBS12  166379  Bardet-Biedl syndrome 12
AliasesC4orf24
GeneCards (Weizmann)BBS12
Ensembl hg19 (Hinxton)ENSG00000181004 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000181004 [Gene_View]  chr4:122732702-122744943 [Contig_View]  BBS12 [Vega]
ICGC DataPortalENSG00000181004
TCGA cBioPortalBBS12
AceView (NCBI)BBS12
Genatlas (Paris)BBS12
WikiGenes166379
SOURCE (Princeton)BBS12
Genetics Home Reference (NIH)BBS12
Genomic and cartography
GoldenPath hg38 (UCSC)BBS12  -     chr4:122732702-122744943 +  4q27   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BBS12  -     4q27   [Description]    (hg19-Feb_2009)
EnsemblBBS12 - 4q27 [CytoView hg19]  BBS12 - 4q27 [CytoView hg38]
Mapping of homologs : NCBIBBS12 [Mapview hg19]  BBS12 [Mapview hg38]
OMIM610683   615989   
Gene and transcription
Genbank (Entrez)AK092949 AK123553 BC055426 BC065708 BX538148
RefSeq transcript (Entrez)NM_001178007 NM_152618
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BBS12
Cluster EST : UnigeneHs.400698 [ NCBI ]
CGAP (NCI)Hs.400698
Alternative Splicing GalleryENSG00000181004
Gene ExpressionBBS12 [ NCBI-GEO ]   BBS12 [ EBI - ARRAY_EXPRESS ]   BBS12 [ SEEK ]   BBS12 [ MEM ]
Gene Expression Viewer (FireBrowse)BBS12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)166379
GTEX Portal (Tissue expression)BBS12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZW61   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZW61  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZW61
Splice isoforms : SwissVarQ6ZW61
PhosPhoSitePlusQ6ZW61
Domains : Interpro (EBI)Cpn60/TCP-1    GroEL-like_apical_dom    GROEL-like_equatorial   
Domain families : Pfam (Sanger)Cpn60_TCP1 (PF00118)   
Domain families : Pfam (NCBI)pfam00118   
Conserved Domain (NCBI)BBS12
DMDM Disease mutations166379
Blocks (Seattle)BBS12
SuperfamilyQ6ZW61
Human Protein AtlasENSG00000181004
Peptide AtlasQ6ZW61
HPRD08759
IPIIPI00470599   IPI00853180   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZW61
IntAct (EBI)Q6ZW61
FunCoupENSG00000181004
BioGRIDBBS12
STRING (EMBL)BBS12
ZODIACBBS12
Ontologies - Pathways
QuickGOQ6ZW61
Ontology : AmiGOprotein binding  ATP binding  chaperonin-containing T-complex  cilium  'de novo' protein folding  intraciliary transport  eating behavior  protein binding involved in protein folding  photoreceptor cell maintenance  negative regulation of fat cell differentiation  unfolded protein binding  chaperone-mediated protein complex assembly  chaperone-mediated protein folding  
Ontology : EGO-EBIprotein binding  ATP binding  chaperonin-containing T-complex  cilium  'de novo' protein folding  intraciliary transport  eating behavior  protein binding involved in protein folding  photoreceptor cell maintenance  negative regulation of fat cell differentiation  unfolded protein binding  chaperone-mediated protein complex assembly  chaperone-mediated protein folding  
NDEx NetworkBBS12
Atlas of Cancer Signalling NetworkBBS12
Wikipedia pathwaysBBS12
Orthology - Evolution
OrthoDB166379
GeneTree (enSembl)ENSG00000181004
Phylogenetic Trees/Animal Genes : TreeFamBBS12
HOVERGENQ6ZW61
HOGENOMQ6ZW61
Homologs : HomoloGeneBBS12
Homology/Alignments : Family Browser (UCSC)BBS12
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBBS12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BBS12
dbVarBBS12
ClinVarBBS12
1000_GenomesBBS12 
Exome Variant ServerBBS12
ExAC (Exome Aggregation Consortium)BBS12 (select the gene name)
Genetic variants : HAPMAP166379
Genomic Variants (DGV)BBS12 [DGVbeta]
DECIPHERBBS12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBBS12 
Mutations
ICGC Data PortalBBS12 
TCGA Data PortalBBS12 
Broad Tumor PortalBBS12
OASIS PortalBBS12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBBS12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBBS12
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 BBS12
DgiDB (Drug Gene Interaction Database)BBS12
DoCM (Curated mutations)BBS12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BBS12 (select a term)
intoGenBBS12
Cancer3DBBS12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610683    615989   
Orphanet3244   
MedgenBBS12
Genetic Testing Registry BBS12
NextProtQ6ZW61 [Medical]
TSGene166379
GENETestsBBS12
Target ValidationBBS12
Huge Navigator BBS12 [HugePedia]
snp3D : Map Gene to Disease166379
BioCentury BCIQBBS12
ClinGenBBS12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD166379
Chemical/Pharm GKB GenePA162377350
Clinical trialBBS12
Miscellaneous
canSAR (ICR)BBS12 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBBS12
EVEXBBS12
GoPubMedBBS12
iHOPBBS12
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 : Wed Jun 7 15:39:31 CEST 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.