C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Bardet-Biedl syndrome 7
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000138686 BBS7 9606 - 4:121824440-121870497 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000264499 BBS7-001 121824440-121870497 protein_coding
  ENST00000502444 BBS7-004 121861294-121870487 retained_intron
  ENST00000505692 BBS7-005 121858603-121861679 retained_intron
  ENST00000506636 BBS7-003 121827727-121870450 protein_coding
  ENST00000507814 BBS7-007 121824924-121828673 protein_coding
  ENST00000508536 BBS7-006 121855430-121859023 retained_intron

Homo sapiens EnsemblGRCh38

Genome
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Genes
Gene structures from Ensembl
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Transcripts
Structures from Ensembl
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Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000264499ENST00000502444ENST00000505692ENST00000506636ENST00000507814
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000264499 0.986±0.00 1.076±0.00 N/A 3.366±1.23 0.837±0.25 1.166±0.37 0.306±0.00 0.787±0.56 1.151±1.02 1.757±0.61 0.209±0.00 1.653±0.52 0.408±0.17 1.801±0.04
ENST00000502444 N/A N/A 2.149±0.00 N/A N/A N/A N/A N/A N/A N/A 0.543±0.00 N/A 1.220±0.00 N/A
ENST00000505692 N/A N/A N/A N/A 1.198±0.00 N/A N/A 0.725±0.00 N/A N/A N/A N/A N/A N/A
ENST00000506636 1.268±0.00 0.376±0.00 0.743±0.00 3.099±0.00 N/A N/A N/A 1.944±0.00 0.508±0.25 0.782±0.02 0.581±0.00 1.860±0.21 0.572±0.41 3.814±1.61
ENST00000507814 N/A N/A N/A N/A N/A 2.221±0.00 N/A N/A N/A 1.543±0.00 N/A N/A 0.537±0.00 N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0000KF CIL_0000KF_0001 CGP 4:121816444-121870497
CIL_0007AB CIL_0007AB_0001 CGP 4:121824440-121951754

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001103 IPI RNA polymerase II repressing transcription factor binding
GO:0001654 IEA eye development
GO:0001947 ISS heart looping
GO:0005515 IPI:IEA protein binding
GO:0005634 IEA nucleus
GO:0005813 IDA centrosome
GO:0005886 IEA plasma membrane
GO:0005930 IEA axoneme
GO:0006357 IPI regulation of transcription from RNA polymerase II promoter
GO:0007224 IEA smoothened signaling pathway
GO:0007368 ISS determination of left/right symmetry
GO:0007420 IEA brain development
GO:0007507 IEA heart development
GO:0007601 IEA visual perception
GO:0008104 IEA protein localization
GO:0015031 IEA protein transport
GO:0016020 IEA membrane
GO:0032402 ISS melanosome transport
GO:0032436 IPI positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0034464 IDA:IEA BBSome
GO:0035058 IEA nonmotile primary cilium assembly
GO:0036064 IEA ciliary basal body
GO:0045444 ISS fat cell differentiation
GO:0048546 ISS digestive tract morphogenesis
GO:0051877 ISS pigment granule aggregation in cell center
GO:0060021 IEA palate development
GO:0060173 IEA limb development
GO:0060271 ISS cilium morphogenesis

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000059911 bbs7 Bardet-Biedl syndrome 7 protein_coding Danio_rerio
ENSMUSG00000037325 Bbs7 Bardet-Biedl syndrome 7 (human) protein_coding Mus_musculus

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