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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: optic atrophy 1 (autosomal dominant)
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000392438 OPA1-002 ENSG00000198836 9606 + 3:193593144-193697823 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdrenalBladderBrainBreastColonHeartLiverLungMuscleOvaryPlacentaTestisENST00000392438
Transcript ID Adrenal Bladder Brain Breast Colon Heart Liver Lung Muscle Ovary Placenta Testis
ENST00000392438 3.435±0.00 0.520±0.00 7.967±1.96 2.270±0.59 3.825±0.00 4.512±0.00 3.231±0.00 1.885±1.43 0.618±0.00 2.163±0.35 1.622±0.10 3.679±0.17

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0000N8 CIL_0000N8_0001 CGP 3:193402077-193697823
CIL_0008CV CIL_0008CV_0001 VISTA 3:193471570-194073544

Gene Ontology

GO IDEvidence TypeGO Description
GO:0000266 TAS mitochondrial fission
GO:0000287 NAS magnesium ion binding
GO:0003924 TAS:IEA GTPase activity
GO:0005515 IPI protein binding
GO:0005525 IEA GTP binding
GO:0005739 IDA mitochondrion
GO:0005741 IDA mitochondrial outer membrane
GO:0005743 ISS mitochondrial inner membrane
GO:0005758 ISS mitochondrial intermembrane space
GO:0006184 IEA GTP catabolic process
GO:0006915 IEA apoptotic process
GO:0007005 NAS mitochondrion organization
GO:0007007 IDA inner mitochondrial membrane organization
GO:0007601 IMP visual perception
GO:0008053 TAS mitochondrial fusion
GO:0016020 IDA membrane
GO:0016021 IEA integral component of membrane
GO:0019896 TAS axon transport of mitochondrion
GO:0030061 IDA mitochondrial crista
GO:0030425 ISS dendrite
GO:0090201 IMP negative regulation of release of cytochrome c from mitochondria
GO:0090398 IDA cellular senescence
GO:1902236 IGI negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENSMUST00000160597 Opa1-001 protein_coding Mus_musculus 0 3687
ENSMUST00000038867 Opa1-003 protein_coding Mus_musculus 0 2933
ENSMUST00000161186 Opa1-008 protein_coding Mus_musculus 0 2857
ENSMUST00000160475 Opa1-002 nonsense_mediated_decay Mus_musculus 0 2739
ENSMUST00000160153 Opa1-005 retained_intron Mus_musculus 0 1997
ENSMUST00000159036 Opa1-004 retained_intron Mus_musculus 0 1236
ENSMUST00000162240 Opa1-007 protein_coding Mus_musculus 0 597

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