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 (human)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000032258 Lca5 10090 - 9:83390293-83441127 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000034791 Lca5-001 83393419-83441027 protein_coding
  ENSMUST00000034793 Lca5-002 83391364-83441127 protein_coding
  ENSMUST00000186802 Lca5-007 83423223-83434723 protein_coding
  ENSMUST00000188548 Lca5-005 83426749-83441116 protein_coding
  ENSMUST00000188907 Lca5-006 83426840-83441062 processed_transcript
  ENSMUST00000190373 Lca5-003 83422247-83441093 retained_intron
  ENSMUST00000190514 Lca5-004 83390293-83426961 nonsense_mediated_decay
  ENSMUST00000190557 Lca5-009 83423428-83426969 retained_intron
  ENSMUST00000191225 Lca5-008 83400635-83401869 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000034791ENSMUST00000034793ENSMUST00000186802ENSMUST00000188907
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000034791 0.441±0.03 0.328±0.07 1.465±0.22 3.840±1.21 0.302±0.11 0.255±0.17 0.195±0.10 0.169±0.13 1.049±0.04 0.259±0.00 1.138±0.49 0.909±0.06 0.903±0.12
ENSMUST00000034793 N/A N/A N/A N/A 0.205±0.07 N/A N/A 0.030±0.00 N/A N/A 1.614±0.00 N/A N/A
ENSMUST00000186802 N/A N/A N/A N/A N/A N/A N/A 0.104±0.03 N/A N/A N/A N/A N/A
ENSMUST00000188907 N/A 0.528±0.24 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_000626 CIL_000626_0003 CGP 9:83109948-83441127
CIL_0006GB CIL_0006GB_0002 CGP 9:83390293-83638801

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005515 IEA protein binding
GO:0005929 IDA cilium
GO:0032403 IEA protein complex binding
GO:0042073 IMP intraciliary transport
GO:0045494 IMP photoreceptor cell maintenance

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000076153 lca5 Leber congenital amaurosis 5 protein_coding Danio_rerio
ENSG00000135338 LCA5 Leber congenital amaurosis 5 protein_coding Homo_sapiens

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