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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: deafness, autosomal dominant 5
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000105928 DFNA5 9606 - 7:24698353-24758113 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000342947 DFNA5-001 24698353-24758113 protein_coding
  ENST00000409775 DFNA5-003 24698995-24757543 protein_coding
  ENST00000409970 DFNA5-005 24698381-24757475 protein_coding
  ENST00000411476 DFNA5-008 24708235-24744734 nonsense_mediated_decay
  ENST00000414428 DFNA5-007 24719075-24757940 protein_coding
  ENST00000415480 DFNA5-010 24707279-24717316 protein_coding
  ENST00000419307 DFNA5-201 24698355-24758020 protein_coding
  ENST00000430096 DFNA5-012 24702427-24706226 protein_coding
  ENST00000446822 DFNA5-009 24707280-24719096 protein_coding
  ENST00000469133 DFNA5-011 24708036-24710587 retained_intron
  ENST00000473990 DFNA5-002 24743345-24749794 retained_intron
  ENST00000479636 DFNA5-006 24698356-24706037 retained_intron
  ENST00000493723 DFNA5-004 24716469-24749793 retained_intron
  ENST00000559637 DFNA5-013 24710224-24724784 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000409775ENST00000409970ENST00000411476ENST00000414428ENST00000419307ENST00000479636ENST00000493723ENST00000559637
Transcript ID Adipose Adrenal Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000409775 N/A N/A 0.720±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000409970 3.582±0.00 3.168±0.00 2.137±0.00 0.927±0.00 2.236±0.00 0.540±0.00 4.157±0.00 0.581±0.07 0.564±0.39 1.324±0.00 3.832±0.00 8.137±0.65 4.868±0.00
ENST00000411476 N/A N/A N/A N/A N/A N/A N/A N/A 0.403±0.00 N/A N/A N/A N/A
ENST00000414428 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 3.890±0.00 66.791±0.00 11.238±0.00
ENST00000419307 N/A N/A N/A N/A 0.351±0.00 N/A N/A N/A 0.691±0.00 N/A N/A N/A N/A
ENST00000479636 N/A N/A N/A N/A 0.074±0.00 0.078±0.00 0.229±0.00 N/A 0.436±0.00 0.216±0.00 0.974±0.00 N/A N/A
ENST00000493723 N/A N/A N/A N/A N/A N/A N/A 0.973±0.00 N/A N/A 0.531±0.00 N/A N/A
ENST00000559637 N/A N/A 2.745±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0002CT CIL_0002CT_0001 CGP 7:24573268-24758113
CIL_0002CS CIL_0002CS_0001 CGP 7:24698353-24981634

Gene Ontology

GO IDEvidence TypeGO Description
GO:0005737 IDA cytoplasm
GO:0006915 IEA apoptotic process
GO:0007605 TAS sensory perception of sound
GO:0008285 IDA negative regulation of cell proliferation
GO:0060113 IEA inner ear receptor cell differentiation
GO:2001244 IDA positive regulation of intrinsic apoptotic signaling pathway

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000040485 dfna5 deafness, autosomal dominant 5 protein_coding Danio_rerio
ENSDARG00000086762 DFNA5 (2 of 2) deafness, autosomal dominant 5 protein_coding Danio_rerio
ENSMUSG00000029821 Dfna5 deafness, autosomal dominant 5 (human) protein_coding Mus_musculus

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