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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: deafness, autosomal recessive 31
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000095397 DFNB31 9606 - 9:114402080-114505450 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000265134 DFNB31-001 114402080-114503173 protein_coding
  ENST00000362057 DFNB31-004 114402081-114504970 protein_coding
  ENST00000374057 DFNB31-005 114478321-114505450 protein_coding
  ENST00000374059 DFNB31-002 114402081-114426071 protein_coding
  ENST00000480518 DFNB31-003 114503551-114504339 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastColonHeartKidneyLiverLungOvaryPlacentaTestisENST00000265134ENST00000362057ENST00000374057ENST00000374059
Transcript ID Adipose Adrenal Brain Breast Colon Heart Kidney Liver Lung Ovary Placenta Testis
ENST00000265134 N/A 1.447±0.00 1.673±1.37 0.374±0.30 1.452±0.93 0.270±0.00 0.653±0.00 0.156±0.00 0.159±0.00 1.616±0.97 0.497±0.02 6.715±0.00
ENST00000362057 0.796±0.00 1.024±0.00 5.592±0.00 0.592±0.00 0.842±0.00 0.015±0.00 1.158±0.00 0.182±0.01 1.839±1.59 5.574±2.14 0.689±0.48 20.463±10.26
ENST00000374057 N/A N/A 0.560±0.00 N/A N/A 0.079±0.00 N/A N/A N/A 0.861±0.00 N/A N/A
ENST00000374059 0.079±0.00 0.634±0.00 0.404±0.00 0.240±0.10 N/A N/A N/A 0.044±0.00 1.724±0.00 1.329±1.12 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0002C9 CIL_0002C9_0002 CGP 9:114334156-114505450
CIL_0004P9 CIL_0004P9_0001 CGP 9:114402080-114598373

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001895 IMP retina homeostasis
GO:0002142 IEA stereocilia ankle link complex
GO:0005515 IPI:IEA protein binding
GO:0005737 IDA cytoplasm
GO:0005884 IEA actin filament
GO:0005929 IEA cilium
GO:0007605 IMP sensory perception of sound
GO:0010628 IEA positive regulation of gene expression
GO:0032391 IEA photoreceptor connecting cilium
GO:0032420 ISS stereocilium
GO:0032421 IEA stereocilium bundle
GO:0050953 IMP sensory perception of light stimulus
GO:0060122 ISS inner ear receptor stereocilium organization
GO:1990075 IEA periciliary membrane compartment

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000075362 dfnb31a deafness, autosomal recessive 31a protein_coding Danio_rerio
ENSMUSG00000039137 Whrn whirlin protein_coding Mus_musculus

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