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 5
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000163093 BBS5 9606 + 2:169479178-169506655 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000295240 BBS5-001 169479178-169506655 protein_coding
  ENST00000392663 BBS5-002 169479483-169506655 protein_coding
  ENST00000443151 BBS5-005 169479502-169497655 nonsense_mediated_decay
  ENST00000469980 BBS5-004 169479480-169482710 retained_intron
  ENST00000472667 BBS5-003 169499034-169506490 retained_intron
  ENST00000475571 BBS5-006 169487762-169493086 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainColonKidneyLiverLungOvaryPlacentaTestisENST00000295240ENST00000392663ENST00000443151ENST00000472667
Transcript ID Adipose Adrenal Bladder Brain Colon Kidney Liver Lung Ovary Placenta Testis
ENST00000295240 0.237±0.00 0.470±0.00 N/A 1.211±0.31 N/A 1.454±0.00 N/A N/A 1.903±1.46 0.346±0.11 11.037±0.00
ENST00000392663 0.796±0.00 0.719±0.00 N/A 1.579±0.00 0.428±0.19 1.192±0.00 0.535±0.00 1.507±0.06 1.429±0.48 1.084±0.14 13.232±0.00
ENST00000443151 N/A N/A N/A N/A 0.652±0.00 N/A N/A N/A N/A N/A N/A
ENST00000472667 0.615±0.00 1.346±0.00 0.824±0.00 0.589±0.00 0.500±0.00 0.165±0.00 0.469±0.00 N/A 1.422±1.33 0.358±0.00 N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00063E CIL_00063E_0001 CGP 2:169127109-169506655

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001103 IPI RNA polymerase II repressing transcription factor binding
GO:0001947 ISS heart looping
GO:0005515 IPI protein binding
GO:0005622 IDA intracellular
GO:0005737 IEA cytoplasm
GO:0005886 IEA plasma membrane
GO:0007601 IEA visual perception
GO:0015031 IEA protein transport
GO:0032266 IDA phosphatidylinositol-3-phosphate binding
GO:0032402 ISS melanosome transport
GO:0034464 IDA BBSome
GO:0036064 ISS ciliary basal body
GO:0042384 IMP cilium assembly
GO:0044458 ISS motile cilium assembly
GO:0050896 IEA response to stimulus

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000039827 bbs5 Bardet-Biedl syndrome 5 protein_coding Danio_rerio
ENSMUSG00000063145 Bbs5 Bardet-Biedl syndrome 5 (human) protein_coding Mus_musculus

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