C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: Bardet-Biedl syndrome 2 (human)
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENSMUST00000034206 Bbs2-001 ENSMUSG00000031755 10090 - 8:94067954-94098811 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000034206
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000034206 4.600±1.68 8.202±2.48 6.163±2.00 10.161±4.24 4.454±0.91 2.196±1.12 3.294±0.79 6.700±1.42 1.339±0.78 5.573±0.47 0.965±0.32 7.746±3.30 1.999±0.94 10.232±3.86

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00048V CIL_00048V_0002 CGP 8:94037198-94098811
CIL_00048Y CIL_00048Y_0002 CGP 8:94067954-94139031

Gene Ontology

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

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENST00000245157 BBS2-001 protein_coding Homo_sapiens 0 2442
ENST00000561853 BBS2-018 retained_intron Homo_sapiens 0 318
ENST00000561877 BBS2-010 nonsense_mediated_decay Homo_sapiens 2e-38 163
ENST00000561951 BBS2-019 processed_transcript Homo_sapiens 0 946
ENST00000562012 BBS2-017 nonsense_mediated_decay Homo_sapiens 0 529
ENST00000562059 BBS2-012 retained_intron Homo_sapiens 0 270
ENST00000562813 BBS2-003 retained_intron Homo_sapiens 0 455
ENST00000564459 BBS2-020 protein_coding Homo_sapiens 0 501
ENST00000565781 BBS2-002 retained_intron Homo_sapiens 0 1037
ENST00000565859 BBS2-009 retained_intron Homo_sapiens 0 235
ENST00000566210 BBS2-014 retained_intron Homo_sapiens 0 248
ENST00000566452 BBS2-016 retained_intron Homo_sapiens 3e-38 161
ENST00000566495 BBS2-013 retained_intron Homo_sapiens 0 427
ENST00000566689 BBS2-007 processed_transcript Homo_sapiens 0 542
ENST00000568104 BBS2-005 protein_coding Homo_sapiens 0 1853
ENST00000569192 BBS2-015 retained_intron Homo_sapiens 0 592
ENST00000569342 BBS2-004 retained_intron Homo_sapiens 0 1240
ENST00000569941 BBS2-006 protein_coding Homo_sapiens 0 579

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