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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000125741 OPA3 9606 - 19:45527427-45602212 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000263275 OPA3-002 45546281-45584819 protein_coding
  ENST00000323060 OPA3-001 45527427-45584842 protein_coding
  ENST00000544371 OPA3-003 45552884-45602212 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverMuscleOvaryPlacentaTestisENST00000263275ENST00000323060ENST00000544371
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Muscle Ovary Placenta Testis
ENST00000263275 2.060±0.00 1.680±0.00 0.364±0.00 0.507±0.18 0.566±0.14 0.563±0.00 1.023±0.32 2.367±2.06 0.258±0.00 1.941±1.61 1.980±1.28 2.277±0.44 0.700±0.25
ENST00000323060 N/A N/A N/A 0.516±0.00 N/A 0.832±0.00 N/A N/A N/A N/A 1.020±0.00 N/A 4.928±0.19
ENST00000544371 N/A N/A N/A N/A N/A N/A N/A N/A 0.759±0.00 N/A N/A N/A N/A

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005739 IDA mitochondrion
GO:0007601 IMP visual perception
GO:0019216 IEA regulation of lipid metabolic process
GO:0040007 IEA growth
GO:0050896 IEA response to stimulus
GO:0050905 IEA neuromuscular process
GO:0070584 IEA mitochondrion morphogenesis

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000061761 opa3 optic atrophy 3 protein_coding Danio_rerio
ENSMUSG00000052214 Opa3 optic atrophy 3 protein_coding Mus_musculus

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