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 4
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000140463 BBS4 9606 + 15:72686179-72738476 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000268057 BBS4-001 72686187-72738476 protein_coding
  ENST00000395205 BBS4-201 72686179-72738475 protein_coding
  ENST00000561914 BBS4-008 72686204-72731458 nonsense_mediated_decay
  ENST00000562084 BBS4-005 72686220-72737570 nonsense_mediated_decay
  ENST00000562219 BBS4-004 72722830-72735645 retained_intron
  ENST00000563600 BBS4-010 72686207-72722821 nonsense_mediated_decay
  ENST00000564239 BBS4-012 72686750-72722848 processed_transcript
  ENST00000565160 BBS4-017 72686194-72727994 nonsense_mediated_decay
  ENST00000566197 BBS4-013 72731682-72737523 protein_coding
  ENST00000566400 BBS4-003 72686186-72738087 nonsense_mediated_decay
  ENST00000566829 BBS4-011 72686390-72716851 protein_coding
  ENST00000566938 BBS4-019 72686207-72724657 nonsense_mediated_decay
  ENST00000567279 BBS4-002 72686207-72737824 nonsense_mediated_decay
  ENST00000568535 BBS4-014 72735517-72737092 retained_intron
  ENST00000569001 BBS4-007 72716828-72717355 processed_transcript
  ENST00000569151 BBS4-015 72731557-72735214 retained_intron
  ENST00000569338 BBS4-016 72686237-72731611 protein_coding
  ENST00000569440 BBS4-009 72686207-72724575 nonsense_mediated_decay

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeBladderBrainBreastColonHeartKidneyLiverMuscleOvaryPlacentaTestisENST00000268057ENST00000395205ENST00000561914ENST00000562219ENST00000565160ENST00000566197ENST00000566400ENST00000567279
Transcript ID Adipose Bladder Brain Breast Colon Heart Kidney Liver Muscle Ovary Placenta Testis
ENST00000268057 2.343±0.00 0.725±0.00 2.169±0.44 2.170±0.00 2.039±0.00 2.051±1.52 1.481±0.25 1.534±0.70 2.490±0.00 3.636±0.14 1.513±0.99 7.362±2.06
ENST00000395205 N/A N/A N/A N/A N/A N/A N/A N/A 0.581±0.00 N/A 0.984±0.00 N/A
ENST00000561914 N/A N/A N/A N/A N/A N/A 1.306±0.00 N/A N/A N/A N/A N/A
ENST00000562219 N/A N/A N/A N/A 0.852±0.00 N/A N/A N/A N/A N/A N/A N/A
ENST00000565160 N/A N/A N/A N/A N/A N/A 2.052±0.00 N/A 1.573±0.00 N/A N/A N/A
ENST00000566197 N/A 4.371±0.00 3.262±0.00 N/A N/A N/A 3.483±0.00 N/A N/A 3.058±0.00 N/A N/A
ENST00000566400 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 1.553±0.00 N/A
ENST00000567279 N/A 0.297±0.00 N/A 0.518±0.00 N/A 0.288±0.00 N/A N/A 0.981±0.00 2.234±0.00 3.142±0.00 14.579±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0005CQ CIL_0005CQ_0002 CGP 15:72686179-72785846

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000226 ISS microtubule cytoskeleton organization
GO:0000242 IDA pericentriolar material
GO:0000281 IMP mitotic cytokinesis
GO:0001103 IPI RNA polymerase II repressing transcription factor binding
GO:0001843 ISS neural tube closure
GO:0001895 ISS retina homeostasis
GO:0001947 ISS heart looping
GO:0003085 IEA negative regulation of systemic arterial blood pressure
GO:0003777 IMP microtubule motor activity
GO:0005515 IPI:IEA protein binding
GO:0005813 IDA centrosome
GO:0005814 IDA centriole
GO:0005929 IDA cilium
GO:0007286 ISS spermatid development
GO:0007601 IEA visual perception
GO:0007608 ISS sensory perception of smell
GO:0008104 IEA protein localization
GO:0008152 IMP metabolic process
GO:0010629 IEA negative regulation of gene expression
GO:0015031 IEA protein transport
GO:0016020 IEA membrane
GO:0016358 ISS dendrite development
GO:0019216 ISS regulation of lipid metabolic process
GO:0021756 ISS striatum development
GO:0021766 ISS hippocampus development
GO:0021987 ISS cerebral cortex development
GO:0030534 ISS adult behavior
GO:0031513 IDA nonmotile primary cilium
GO:0031514 IDA motile cilium
GO:0032402 ISS melanosome transport
GO:0032465 IMP regulation of cytokinesis
GO:0033210 IEA leptin-mediated signaling pathway
GO:0033365 ISS protein localization to organelle
GO:0034451 IDA centriolar satellite
GO:0034452 IDA dynactin binding
GO:0034454 IMP microtubule anchoring at centrosome
GO:0034464 IDA BBSome
GO:0035058 ISS nonmotile primary cilium assembly
GO:0036064 IDA ciliary basal body
GO:0038108 ISS negative regulation of appetite by leptin-mediated signaling pathway
GO:0040018 IEA positive regulation of multicellular organism growth
GO:0042384 ISS cilium assembly
GO:0043014 IDA alpha-tubulin binding
GO:0044321 IEA response to leptin
GO:0045444 ISS fat cell differentiation
GO:0045494 ISS photoreceptor cell maintenance
GO:0045724 ISS positive regulation of cilium assembly
GO:0046548 ISS retinal rod cell development
GO:0046907 ISS intracellular transport
GO:0048487 IDA beta-tubulin binding
GO:0048854 ISS brain morphogenesis
GO:0050893 TAS sensory processing
GO:0051297 IMP centrosome organization
GO:0051457 IGI maintenance of protein location in nucleus
GO:0051877 ISS pigment granule aggregation in cell center
GO:0060027 ISS convergent extension involved in gastrulation
GO:0060170 IDA ciliary membrane
GO:0060271 ISS cilium morphogenesis
GO:0060296 ISS regulation of cilium beat frequency involved in ciliary motility
GO:0071539 IMP protein localization to centrosome

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000063522 bbs4 Bardet-Biedl syndrome 4 protein_coding Danio_rerio
ENSMUSG00000025235 Bbs4 Bardet-Biedl syndrome 4 (human) protein_coding Mus_musculus

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