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
ENSDARG00000063522 bbs4 7955 + 25:2608100-2642154 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSDART00000092919 bbs4-003 2608111-2642154 nonsense_mediated_decay
  ENSDART00000122929 bbs4-001 2608111-2642154 protein_coding
  ENSDART00000139517 bbs4-002 2608100-2625194 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; BrainHeartKidneyLiverMuscleENSDART00000092919ENSDART00000122929ENSDART00000139517
Transcript ID Brain Heart Kidney Liver Muscle
ENSDART00000092919 4.979±1.19 0.557±0.23 1.777±1.01 0.025±0.00 0.197±0.00
ENSDART00000122929 5.801±0.49 0.337±0.20 1.172±0.00 N/A N/A
ENSDART00000139517 N/A N/A N/A 0.037±0.00 0.182±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0005CQ CIL_0005CQ_0001 CGP 25:2608100-2663121

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001947 IMP heart looping
GO:0005515 IEA protein binding
GO:0005622 IMP intracellular
GO:0007368 IGI determination of left/right symmetry
GO:0032402 IMP melanosome transport
GO:0035845 IMP photoreceptor cell outer segment organization
GO:0042384 IMP cilium assembly
GO:0046154 IGI rhodopsin metabolic process
GO:0046907 IMP intracellular transport
GO:0051877 IMP pigment granule aggregation in cell center
GO:0060026 IMP convergent extension
GO:0060027 IMP convergent extension involved in gastrulation
GO:0061371 IGI determination of heart left/right asymmetry
GO:0070121 IMP Kupffer's vesicle development
GO:0090245 IMP axis elongation involved in somitogenesis

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSG00000140463 BBS4 Bardet-Biedl syndrome 4 protein_coding Homo_sapiens
ENSMUSG00000025235 Bbs4 Bardet-Biedl syndrome 4 (human) protein_coding Mus_musculus

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