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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Usher syndrome 2A (autosomal recessive, mild)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000042781 USH2A 9606 - 1:215622894-216423396 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000307340 USH2A-002 215622894-216423396 protein_coding
  ENST00000366942 USH2A-001 216173946-216423396 protein_coding
  ENST00000366943 USH2A-201 215622894-216423396 protein_coding
  ENST00000463147 USH2A-004 216083380-216085108 retained_intron
  ENST00000481786 USH2A-003 216083370-216089139 retained_intron

Homo sapiens EnsemblGRCh38

Genome
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Genes
Gene structures from Ensembl
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Transcripts
Structures from Ensembl
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Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000307340ENST00000366942ENST00000366943
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000307340 0.002±0.00 0.010±0.00 0.010±0.00 0.023±0.00 0.027±0.00 0.020±0.02 0.036±0.03 0.008±0.00 0.055±0.05 0.004±0.00 N/A 0.009±0.01 0.002±0.00 0.220±0.18
ENST00000366942 N/A N/A N/A 0.021±0.00 N/A N/A N/A N/A N/A N/A 0.013±0.00 N/A 0.002±0.00 N/A
ENST00000366943 0.002±0.00 0.010±0.00 0.011±0.00 0.023±0.00 0.027±0.00 0.020±0.02 0.037±0.03 0.008±0.00 0.055±0.05 0.004±0.00 N/A 0.009±0.01 0.002±0.00 0.044±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00085O CIL_00085O_0001 VISTA 1:215415579-216017032
CIL_000126 CIL_000126_0002 CGP 1:215567392-216423396
CIL_000127 CIL_000127_0002 CGP 1:215622894-217137755

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

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000029482 ush2a Usher syndrome 2A (autosomal recessive, mild) protein_coding Danio_rerio
ENSMUSG00000026609 Ush2a Usher syndrome 2A (autosomal recessive, mild) protein_coding Mus_musculus

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