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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. BBS12, Bardet-Biedl syndrome 12
Sequence ID:NM_001178007
NM_152618
RefSeqGene ID:NG_021203
Entrez Gene ID:166379
Ensembl ID:ENSG00000181004

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
BARDET-BIEDL SYNDROME 1ARL6
BBS1
BBS10
BBS2
BBS4
BBS5
BBS7
BBS9
CCDC28B
CEP290
MKKS
MKS1
TMEM67
TRIM32
TTC8
WDPCP

Cytogenetic Location (from UniGene)

Cytogenetic Location:4q27Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:4: 123663740 - 123666097

 Exon Info From UCSC:
NM_001178007
NM_152618

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
5262398Full LengthBC055426Bardet-Biedl syndrome 12

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001178007 NP_001171478    
NM_152618 NP_689831 Q6ZW61  

Related Sequences

 
mRNAGenPeptSwissProt
BC055426 AAH55426 Q6ZW61
AK092949 BAC04006 Q6ZW61
AK123553 BAC85644 Q6ZW61
BX538148 CAD98035 Q6ZW61

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens BBS12 NP_001171478 R.norvegicus Bbs12 365770   XP_345203 71
M.musculus Bbs12 241950 Gene Info NP_001008502 69

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)