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 (human)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000037325 Bbs7 10090 - 3:36573142-36613477 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000040148 Bbs7-002 36573142-36613389 protein_coding
  ENSMUST00000108155 Bbs7-003 36574871-36613285 protein_coding
  ENSMUST00000108156 Bbs7-001 36573142-36613477 protein_coding
  ENSMUST00000129671 Bbs7-004 36609337-36613389 retained_intron
  ENSMUST00000142333 Bbs7-005 36610182-36613389 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000040148ENSMUST00000108155ENSMUST00000108156ENSMUST00000129671ENSMUST00000142333
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000040148 0.219±0.00 0.781±0.29 N/A 1.288±0.00 0.569±0.17 0.817±0.25 0.477±0.11 0.472±0.00 0.532±0.27 0.561±0.10 N/A 0.966±0.47 0.439±0.12 N/A
ENSMUST00000108155 0.278±0.00 0.231±0.00 N/A 0.642±0.00 0.238±0.09 0.209±0.05 0.208±0.00 N/A N/A 1.071±0.07 N/A 0.775±0.00 N/A N/A
ENSMUST00000108156 0.923±0.30 0.424±0.00 2.791±0.23 3.838±1.76 0.759±0.35 N/A 0.249±0.18 1.751±0.44 2.678±1.73 1.086±0.47 2.769±0.21 2.217±1.82 2.168±1.31 12.999±1.56
ENSMUST00000129671 N/A 3.666±1.08 N/A N/A 0.720±0.00 N/A N/A N/A 0.751±0.00 N/A N/A 0.807±0.39 N/A N/A
ENSMUST00000142333 N/A 0.661±0.00 N/A N/A 0.562±0.00 0.570±0.00 N/A N/A 0.933±0.00 1.328±0.00 N/A 0.696±0.22 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0000KF CIL_0000KF_0002 CGP 3:36564866-36613477
CIL_0007AB CIL_0007AB_0002 CGP 3:36573142-36690167

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001103 IEA RNA polymerase II repressing transcription factor binding
GO:0001654 IGI eye development
GO:0005634 IDA nucleus
GO:0005813 IDA centrosome
GO:0005886 IEA plasma membrane
GO:0005930 IDA axoneme
GO:0006357 IEA regulation of transcription from RNA polymerase II promoter
GO:0007224 IGI smoothened signaling pathway
GO:0007420 IGI brain development
GO:0007507 IGI heart development
GO:0008104 IMP protein localization
GO:0015031 IEA protein transport
GO:0016020 IDA membrane
GO:0032436 IEA positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0034464 IDA BBSome
GO:0035058 IEA nonmotile primary cilium assembly
GO:0036064 IDA ciliary basal body
GO:0045444 IEP fat cell differentiation
GO:0060021 IGI palate development
GO:0060173 IGI limb development

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000059911 bbs7 Bardet-Biedl syndrome 7 protein_coding Danio_rerio
ENSG00000138686 BBS7 Bardet-Biedl syndrome 7 protein_coding Homo_sapiens

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