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 2
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000125124 BBS2 9606 - 16:56466836-56520283 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000245157 BBS2-001 56484385-56520283 protein_coding
  ENST00000561853 BBS2-018 56502222-56506163 retained_intron
  ENST00000561877 BBS2-010 56497776-56500946 nonsense_mediated_decay
  ENST00000561951 BBS2-019 56501647-56511278 processed_transcript
  ENST00000562012 BBS2-017 56499832-56509989 nonsense_mediated_decay
  ENST00000562059 BBS2-012 56500882-56501806 retained_intron
  ENST00000562813 BBS2-003 56484388-56500919 retained_intron
  ENST00000564123 BBS2-021 56466836-56485738 protein_coding
  ENST00000564459 BBS2-020 56470403-56497802 protein_coding
  ENST00000565378 BBS2-008 56510004-56520056 processed_transcript
  ENST00000565781 BBS2-002 56484385-56520087 retained_intron
  ENST00000565859 BBS2-009 56505978-56509967 retained_intron
  ENST00000566210 BBS2-014 56499786-56501176 retained_intron
  ENST00000566410 BBS2-011 56498490-56499923 processed_transcript
  ENST00000566452 BBS2-016 56499701-56500945 retained_intron
  ENST00000566495 BBS2-013 56497743-56501594 retained_intron
  ENST00000566689 BBS2-007 56509982-56519621 processed_transcript
  ENST00000568104 BBS2-005 56484345-56520041 protein_coding
  ENST00000569192 BBS2-015 56485607-56499978 retained_intron
  ENST00000569342 BBS2-004 56501403-56519996 retained_intron
  ENST00000569941 BBS2-006 56509957-56516131 protein_coding

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'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000245157ENST00000561951ENST00000562813ENST00000564459ENST00000565781ENST00000568104ENST00000569342ENST00000569941
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000245157 4.223±0.00 N/A N/A 14.273±0.00 5.724±0.00 6.363±0.00 5.090±0.00 13.481±0.00 N/A 5.407±0.00 7.574±0.00 13.927±1.53 4.170±0.78 11.993±0.00
ENST00000561951 N/A N/A N/A 20.456±0.00 N/A 7.628±0.00 7.463±0.00 5.928±0.00 10.810±0.00 8.428±0.00 13.727±0.00 N/A N/A N/A
ENST00000562813 N/A N/A N/A N/A N/A N/A N/A 0.647±0.00 N/A N/A N/A N/A N/A N/A
ENST00000564459 N/A N/A N/A 44.444±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A 32.139±0.00
ENST00000565781 N/A 2.077±0.00 0.889±0.00 2.450±0.00 0.988±0.00 0.706±0.00 N/A N/A 1.198±0.00 1.558±0.00 N/A N/A N/A N/A
ENST00000568104 N/A N/A N/A 6.933±0.00 N/A N/A 3.653±0.00 N/A N/A N/A N/A 4.560±0.00 5.437±2.65 20.248±0.00
ENST00000569342 N/A N/A N/A N/A N/A N/A N/A N/A N/A 5.486±0.00 N/A N/A N/A N/A
ENST00000569941 N/A N/A 15.457±0.00 N/A N/A N/A N/A N/A N/A N/A N/A 18.961±0.00 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00048W CIL_00048W_0001 CGP 16:56429133-56479100
CIL_00048V CIL_00048V_0001 CGP 16:56451490-56520283
CIL_00048Y CIL_00048Y_0001 CGP 16:56466836-56568957

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001103 IPI RNA polymerase II repressing transcription factor binding
GO:0005515 IPI:IEA protein binding
GO:0005737 IEA cytoplasm
GO:0005886 IEA plasma membrane
GO:0007288 ISS sperm axoneme assembly
GO:0007601 IEA visual perception
GO:0008104 ISS protein localization
GO:0010629 IEA negative regulation of gene expression
GO:0014824 IEA artery smooth muscle contraction
GO:0016020 IEA membrane
GO:0021756 ISS striatum development
GO:0021766 ISS hippocampus development
GO:0021987 ISS cerebral cortex development
GO:0030534 ISS adult behavior
GO:0031514 IDA motile cilium
GO:0032402 ISS melanosome transport
GO:0033210 IEA leptin-mediated signaling pathway
GO:0033365 ISS protein localization to organelle
GO:0034464 IDA:IEA BBSome
GO:0035058 IEA nonmotile primary cilium assembly
GO:0036064 IDA ciliary basal body
GO:0038108 ISS negative regulation of appetite by leptin-mediated signaling pathway
GO:0040015 ISS negative regulation of multicellular organism growth
GO:0040018 IEA positive regulation of multicellular organism growth
GO:0042311 IEA vasodilation
GO:0042384 IEA cilium assembly
GO:0043001 IMP Golgi to plasma membrane protein transport
GO:0044321 IEA response to leptin
GO:0045444 ISS fat cell differentiation
GO:0045494 ISS photoreceptor cell maintenance
GO:0048854 ISS brain morphogenesis
GO:0051216 IEA cartilage development
GO:0060271 ISS cilium morphogenesis
GO:0060296 ISS regulation of cilium beat frequency involved in ciliary motility

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000041621 bbs2 Bardet-Biedl syndrome 2 protein_coding Danio_rerio
ENSMUSG00000031755 Bbs2 Bardet-Biedl syndrome 2 (human) protein_coding Mus_musculus

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