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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. BBS1, Bardet-Biedl syndrome 1
Sequence ID:NM_024649
RefSeqGene ID:NG_009093
Entrez Gene ID:582
Ensembl ID:ENSG00000174483

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    b-cell, bone, brain, cartilage, cerebellum, cerebrum, cervix, colon, ear, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, pineal gland, placenta, pooled tissue, prostate, retina, skin, soft tissue, spleen, stem cell, stomach, synovium, t-cell, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
BARDET-BIEDL SYNDROME 1ARL6
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
CCDC28B
CEP290
MKKS
MKS1
TMEM67
TRIM32
TTC8
WDPCP

Cytogenetic Location (from UniGene)

Cytogenetic Location:11q13Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:11: 66278118 - 66301084

 Exon Info From UCSC:
NM_024649

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4824649Full LengthBC047642Bardet-Biedl syndrome 1
40033833Full LengthBC109064Bardet-Biedl syndrome 1
40033834Full LengthBC109065Bardet-Biedl syndrome 1

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_024649 NP_078925 Q8NFJ9  

Related Sequences

 
mRNAGenPeptSwissProt
BC047642 AAH47642 Q4G0L2
BC109064 AAI09065 Q8NFJ9
BC109065 AAI09066 Q32MM9
AF503941 AAM92770 Q8NFJ9
AK027243 BAB15704 Q9H5C3
AK294962 BAG58036 B4DH75
AK296311 BAG59009 B4DJZ7
AK302657 BAG63895 B4DYY3
BX647612 CAI46060 Q5HYI2

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 BBS1 NP_078925 M.musculus Bbs1 52028 Gene Info NP_001028300 92
R.norvegicus Bbs1 309156   NP_001101039 92
A.gambiae AgaP_AGAP007459 1269757   XP_308406 38
D.melanogaster BBS1 38780   NP_648080 31
C.elegans bbs-1 260219   NP_740933 29

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