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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Leber congenital amaurosis 5
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000135338 LCA5 9606 - 6:79484991-79537458 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000369846 LCA5-001 79484991-79537408 protein_coding
  ENST00000392959 LCA5-002 79484991-79537430 protein_coding
  ENST00000467898 LCA5-003 79487828-79537458 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000369846ENST00000392959
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000369846 1.361±0.00 0.852±0.00 0.302±0.00 1.820±0.60 1.000±0.10 1.713±0.00 0.466±0.00 1.362±0.00 1.168±1.03 1.678±0.95 0.254±0.00 1.630±0.63 0.611±0.17 4.232±0.43
ENST00000392959 N/A N/A N/A N/A 0.224±0.01 0.623±0.00 0.075±0.00 N/A 0.294±0.00 0.521±0.00 0.220±0.00 0.585±0.10 0.199±0.00 0.501±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_000626 CIL_000626_0002 CGP 6:79201245-79537458
CIL_0006GB CIL_0006GB_0001 CGP 6:79484991-79703659

Gene Ontology

GO IDEvidence TypeGO Description
GO:0005515 IPI protein binding
GO:0005737 IEA cytoplasm
GO:0005856 IEA cytoskeleton
GO:0005929 IDA cilium
GO:0015031 IEA protein transport
GO:0032403 IDA protein complex binding
GO:0042073 IEA intraciliary transport
GO:0045494 IEA photoreceptor cell maintenance

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000076153 lca5 Leber congenital amaurosis 5 protein_coding Danio_rerio
ENSMUSG00000032258 Lca5 Leber congenital amaurosis 5 (human) protein_coding Mus_musculus

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