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 (human)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000063145 Bbs5 10090 + 2:69647171-69667571 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000074963 Bbs5-001 69647208-69667571 protein_coding
  ENSMUST00000112286 Bbs5-003 69647216-69667571 protein_coding
  ENSMUST00000127806 Bbs5-008 69656989-69667571 protein_coding
  ENSMUST00000130061 Bbs5-006 69647263-69653092 retained_intron
  ENSMUST00000134659 Bbs5-002 69647171-69667318 nonsense_mediated_decay
  ENSMUST00000143165 Bbs5-007 69655424-69665028 retained_intron
  ENSMUST00000144240 Bbs5-005 69647253-69654248 retained_intron
  ENSMUST00000149276 Bbs5-004 69647230-69649591 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000074963ENSMUST00000112286ENSMUST00000127806ENSMUST00000130061ENSMUST00000134659ENSMUST00000143165ENSMUST00000144240ENSMUST00000149276
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000074963 0.824±0.31 N/A 4.629±1.97 2.911±0.33 0.658±0.23 0.410±0.04 0.801±0.32 0.754±0.38 1.318±0.61 1.286±0.00 1.413±0.27 1.521±1.03 3.707±0.89 20.460±2.92
ENSMUST00000112286 N/A 1.068±0.48 N/A N/A 0.203±0.00 0.698±0.20 0.224±0.09 0.374±0.09 0.449±0.11 0.926±0.00 N/A 1.025±0.28 4.171±0.00 12.066±0.00
ENSMUST00000127806 N/A N/A N/A 6.685±0.00 N/A N/A N/A N/A N/A N/A N/A 4.953±1.42 4.564±2.54 68.919±0.00
ENSMUST00000130061 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.893±0.00 N/A N/A
ENSMUST00000134659 0.640±0.13 0.444±0.10 N/A N/A N/A 0.554±0.31 N/A 0.227±0.00 0.319±0.10 0.444±0.00 0.517±0.21 1.279±1.02 5.088±0.00 24.140±17.73
ENSMUST00000143165 N/A N/A N/A N/A 0.575±0.00 0.336±0.00 N/A 0.604±0.00 0.320±0.08 N/A N/A 1.748±0.00 N/A N/A
ENSMUST00000144240 N/A N/A N/A N/A N/A 0.389±0.00 N/A 0.711±0.00 N/A N/A N/A 1.576±0.00 N/A N/A
ENSMUST00000149276 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.490±0.00 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0008HC CIL_0008HC_0002 VISTA 2:69119794-69721610
CIL_00063E CIL_00063E_0002 CGP 2:69424340-69667571

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001103 IEA RNA polymerase II repressing transcription factor binding
GO:0005515 IEA protein binding
GO:0005622 IEA intracellular
GO:0005737 IEA cytoplasm
GO:0005886 IEA plasma membrane
GO:0015031 IEA protein transport
GO:0032266 IEA phosphatidylinositol-3-phosphate binding
GO:0034464 IDA BBSome
GO:0036064 IDA ciliary basal body
GO:0042384 IEA cilium assembly

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000039827 bbs5 Bardet-Biedl syndrome 5 protein_coding Danio_rerio
ENSG00000163093 BBS5 Bardet-Biedl syndrome 5 protein_coding Homo_sapiens

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