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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: Usher syndrome 2A (autosomal recessive, mild)
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENSMUST00000060479 Ush2a-001 ENSMUSG00000026609 10090 + 1:188263034-188965041 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdrenalBrainBreastKidneyLiverLungOvaryPlacentaENSMUST00000060479
Transcript ID Adrenal Brain Breast Kidney Liver Lung Ovary Placenta
ENSMUST00000060479 0.008±0.01 0.007±0.00 0.002±0.00 0.004±0.00 0.005±0.00 0.010±0.00 0.036±0.02 0.012±0.01

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0007JY CIL_0007JY_0002 UCNEbase 1:186701249-188943182
CIL_0008DN CIL_0008DN_0002 VISTA 1:187818946-188419476

Gene Ontology

GO IDEvidence TypeGO Description
GO:0001917 IDA photoreceptor inner segment
GO:0002141 NAS stereocilia ankle link
GO:0002142 IDA stereocilia ankle link complex
GO:0005515 IPI protein binding
GO:0005518 IDA collagen binding
GO:0005604 IDA basement membrane
GO:0005737 IEA cytoplasm
GO:0007601 IEA visual perception
GO:0007605 IEA sensory perception of sound
GO:0016021 IEA integral component of membrane
GO:0016324 IDA apical plasma membrane
GO:0017022 IPI myosin binding
GO:0032391 IDA photoreceptor connecting cilium
GO:0032421 IDA stereocilium bundle
GO:0035315 IEP hair cell differentiation
GO:0045494 IMP photoreceptor cell maintenance
GO:0048496 IEA maintenance of organ identity
GO:0050896 IEA response to stimulus
GO:0050953 IEA sensory perception of light stimulus
GO:0060113 IMP inner ear receptor cell differentiation
GO:0060171 IDA stereocilium membrane
GO:1990075 IDA periciliary membrane compartment

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENST00000307340 USH2A-002 protein_coding Homo_sapiens 0 9902
ENST00000366942 USH2A-001 protein_coding Homo_sapiens 0 2739
ENST00000366943 USH2A-201 protein_coding Homo_sapiens 0 9908

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