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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: uveal autoantigen with coiled-coil domains and ankyrin repeats
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000137831 UACA 9606 - 15:70654554-70763593 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000322954 UACA-001 70654554-70763593 protein_coding
  ENST00000379983 UACA-006 70656802-70702308 protein_coding
  ENST00000539319 UACA-004 70656977-70763430 protein_coding
  ENST00000558308 UACA-011 70671878-70687643 retained_intron
  ENST00000558758 UACA-005 70668918-70702281 protein_coding
  ENST00000559156 UACA-012 70676307-70684400 retained_intron
  ENST00000559183 UACA-008 70681537-70684303 processed_transcript
  ENST00000559206 UACA-007 70656934-70661696 retained_intron
  ENST00000559290 UACA-014 70669094-70671973 retained_intron
  ENST00000560167 UACA-009 70684357-70703275 protein_coding
  ENST00000560441 UACA-003 70656932-70702308 protein_coding
  ENST00000560523 UACA-010 70671878-70699666 retained_intron
  ENST00000560831 UACA-015 70656935-70664944 processed_transcript
  ENST00000560951 UACA-013 70678099-70680034 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000322954ENST00000379983ENST00000539319ENST00000560441ENST00000560523
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000322954 2.185±0.00 3.431±0.00 1.786±0.00 0.274±0.00 3.021±0.88 0.823±0.41 1.346±0.79 3.511±0.00 1.374±0.94 1.912±0.27 0.820±0.00 2.102±0.62 1.529±0.50 3.280±0.83
ENST00000379983 N/A N/A 5.567±0.00 0.266±0.00 1.940±0.00 0.840±0.00 0.488±0.00 1.380±0.00 2.709±0.00 5.016±0.00 1.077±0.00 1.522±0.10 1.769±0.00 N/A
ENST00000539319 6.417±0.00 4.775±0.00 N/A 2.067±0.00 7.775±0.00 2.935±0.00 4.013±0.00 5.372±0.00 1.271±0.00 4.811±0.00 37.271±0.00 3.580±0.66 1.837±0.78 7.008±1.80
ENST00000560441 N/A N/A N/A 0.531±0.00 2.206±0.00 1.012±0.01 2.200±0.00 2.279±0.00 N/A N/A 1.130±0.00 3.325±1.45 1.616±0.85 3.747±0.84
ENST00000560523 N/A N/A N/A 1.020±0.00 N/A 5.250±0.00 2.473±0.00 N/A N/A 7.504±0.00 12.839±0.00 N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0004GW CIL_0004GW_0002 CGP 15:70047790-70763593

Gene Ontology
GO IDEvidence TypeGO Description
GO:0003674 ND molecular_function
GO:0005515 IPI:IEA protein binding
GO:0005576 NAS extracellular region
GO:0005634 IDA nucleus
GO:0005635 IEA nuclear envelope
GO:0005737 IDA cytoplasm
GO:0005739 IDA mitochondrion
GO:0005829 IEA cytosol
GO:0005856 IEA cytoskeleton
GO:0008150 ND biological_process
GO:0008630 IEA intrinsic apoptotic signaling pathway in response to DNA damage
GO:0008631 IEA intrinsic apoptotic signaling pathway in response to oxidative stress
GO:0009411 IEA response to UV
GO:0016020 IEA membrane
GO:0042307 IEA positive regulation of protein import into nucleus
GO:0042347 IEA negative regulation of NF-kappaB import into nucleus
GO:0043065 IEA positive regulation of apoptotic process
GO:0043280 IEA positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043293 IEA apoptosome
GO:0048471 IEA perinuclear region of cytoplasm
GO:0050728 IEA negative regulation of inflammatory response
GO:0070062 IDA extracellular vesicular exosome

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000060238 UACA (1 of 2) uveal autoantigen with coiled-coil domains and ankyrin repeats protein_coding Danio_rerio
ENSMUSG00000034485 Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats protein_coding Mus_musculus

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