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 9
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000122507 BBS9 9606 + 7:33129244-33606068 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000242067 BBS9-004 33129532-33606068 protein_coding
  ENST00000350941 BBS9-001 33129540-33606068 protein_coding
  ENST00000355070 BBS9-005 33129540-33606068 protein_coding
  ENST00000396127 BBS9-003 33129540-33606068 protein_coding
  ENST00000425508 BBS9-201 33146329-33314571 protein_coding
  ENST00000432983 BBS9-009 33129244-33155667 protein_coding
  ENST00000433714 BBS9-002 33129562-33605632 nonsense_mediated_decay
  ENST00000434373 BBS9-006 33344607-33605626 protein_coding
  ENST00000442858 BBS9-010 33157638-33273114 protein_coding
  ENST00000465037 BBS9-007 33129557-33177575 processed_transcript
  ENST00000482941 BBS9-008 33129567-33152836 processed_transcript
  ENST00000489708 BBS9-012 33505588-33604952 processed_transcript
  ENST00000495426 BBS9-015 33505582-33534370 retained_intron
  ENST00000496029 BBS9-011 33383754-33390648 processed_transcript
  ENST00000498189 BBS9-013 33533687-33605207 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000242067ENST00000350941ENST00000355070ENST00000396127ENST00000433714ENST00000434373ENST00000442858ENST00000482941ENST00000495426
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000242067 N/A N/A N/A 0.813±0.26 0.859±0.00 1.191±0.00 N/A N/A 1.175±0.00 N/A N/A 2.123±0.00 N/A 1.269±0.00
ENST00000350941 N/A N/A 0.497±0.00 N/A N/A N/A 0.468±0.02 N/A 0.164±0.00 0.637±0.00 N/A 0.614±0.00 N/A N/A
ENST00000355070 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.384±0.17 N/A N/A
ENST00000396127 N/A N/A N/A 1.047±0.00 0.374±0.00 N/A N/A 0.301±0.00 N/A N/A 0.178±0.00 N/A 0.419±0.00 N/A
ENST00000433714 0.356±0.00 1.263±0.00 N/A 1.423±0.00 1.554±0.42 1.901±0.00 0.661±0.00 2.091±0.00 0.233±0.00 1.551±0.00 0.592±0.00 0.924±0.23 0.979±0.39 4.250±1.79
ENST00000434373 0.507±0.00 0.703±0.00 1.115±0.00 2.331±0.00 N/A N/A 0.919±0.43 0.891±0.56 0.815±0.54 1.256±0.00 0.371±0.00 2.040±0.00 1.303±0.26 N/A
ENST00000442858 N/A N/A N/A N/A N/A N/A N/A 3.799±0.00 N/A N/A N/A N/A N/A N/A
ENST00000482941 1.925±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A 1.449±0.00 1.832±0.00 N/A N/A
ENST00000495426 N/A N/A N/A N/A N/A N/A N/A 1.294±0.00 N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0003FH CIL_0003FH_0001 CGP 7:33129244-34155872

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000242 IDA pericentriolar material
GO:0003674 ND molecular_function
GO:0005515 IPI protein binding
GO:0005886 IEA plasma membrane
GO:0005929 IDA cilium
GO:0007601 IEA visual perception
GO:0015031 IEA protein transport
GO:0016020 IEA membrane
GO:0034464 IDA BBSome
GO:0042384 IEA cilium assembly
GO:0045444 ISS fat cell differentiation
GO:0050896 IEA response to stimulus

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000079217 bbs9 Bardet-Biedl syndrome 9 protein_coding Danio_rerio
ENSMUSG00000035919 Bbs9 Bardet-Biedl syndrome 9 (human) protein_coding Mus_musculus

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