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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: optic atrophy 1 (autosomal dominant)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000198836 OPA1 9606 + 3:193593144-193697823 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000361150 OPA1-201 193593144-193697810 protein_coding
  ENST00000361510 OPA1-202 193593144-193697810 protein_coding
  ENST00000361715 OPA1-203 193593144-193697810 protein_coding
  ENST00000361828 OPA1-204 193593144-193697810 protein_coding
  ENST00000361908 OPA1-001 193593144-193697811 protein_coding
  ENST00000392436 OPA1-005 193593352-193626144 protein_coding
  ENST00000392437 OPA1-004 193593247-193618920 protein_coding
  ENST00000392438 OPA1-002 193593144-193697823 protein_coding
  ENST00000419435 OPA1-011 193593281-193618937 protein_coding
  ENST00000429164 OPA1-010 193667176-193668621 protein_coding
  ENST00000434811 OPA1-006 193614992-193637212 protein_coding
  ENST00000445863 OPA1-009 193662891-193668931 protein_coding
  ENST00000475899 OPA1-015 193637216-193644151 retained_intron
  ENST00000482865 OPA1-014 193648766-193659514 retained_intron
  ENST00000483516 OPA1-008 193645612-193648460 retained_intron
  ENST00000487986 OPA1-012 193614788-193628544 processed_transcript
  ENST00000495261 OPA1-003 193691394-193697526 retained_intron
  ENST00000495476 OPA1-007 193626058-193638048 retained_intron
  ENST00000497189 OPA1-013 193618827-193642985 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000361150ENST00000361510ENST00000361715ENST00000361828ENST00000361908ENST00000392438
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000361150 N/A N/A 1.393±0.00 N/A 2.361±0.00 N/A N/A 1.753±0.00 N/A N/A N/A 1.224±0.39 0.520±0.00 1.797±0.00
ENST00000361510 N/A N/A N/A N/A N/A N/A N/A 2.236±0.00 N/A N/A N/A 1.218±0.70 N/A N/A
ENST00000361715 N/A N/A N/A N/A N/A 1.226±0.00 N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000361828 3.938±0.00 N/A N/A N/A 2.416±0.00 N/A N/A N/A 0.966±0.00 N/A N/A N/A 1.012±0.00 N/A
ENST00000361908 3.363±0.00 3.295±0.00 0.900±0.00 N/A 2.484±0.00 8.811±0.00 3.050±1.07 2.507±0.00 2.961±0.59 1.874±0.64 2.146±0.03 1.789±0.93 1.816±1.01 2.458±0.00
ENST00000392438 N/A 3.435±0.00 0.520±0.00 7.967±1.96 2.270±0.59 3.825±0.00 4.512±0.00 N/A 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:0001843 IEA neural tube closure
GO:0003924 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 Description Biotype Species
ENSDARG00000044329 opa1 optic atrophy 1 (human) protein_coding Danio_rerio
ENSDARG00000070801 opa1 optic atrophy 1 (human) protein_coding Danio_rerio
ENSMUSG00000038084 Opa1 optic atrophy 1 protein_coding Mus_musculus

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