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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: oculocerebrorenal syndrome of Lowe
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000122126 OCRL 9606 + X:129539849-129592561 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000357121 OCRL-002 129540275-129592561 protein_coding
  ENST00000371113 OCRL-001 129540275-129592561 protein_coding
  ENST00000463271 OCRL-005 129589589-129590633 processed_transcript
  ENST00000486673 OCRL-003 129539849-129558979 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000357121ENST00000371113
Transcript ID Adipose Adrenal Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000357121 8.041±0.00 2.600±0.00 2.486±0.13 3.984±0.84 4.191±2.00 0.810±0.71 3.430±1.22 1.461±0.38 1.683±1.16 0.332±0.00 6.903±0.15 5.480±1.47 18.165±6.41
ENST00000371113 N/A 0.873±0.00 4.642±4.07 N/A N/A 1.511±0.00 N/A N/A 1.172±0.00 4.522±0.00 3.219±0.69 N/A 6.727±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0000A1 CIL_0000A1_0001 CGP X:129446501-129592561

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001701 IEA in utero embryonic development
GO:0001750 IDA photoreceptor outer segment
GO:0004439 IEA phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
GO:0005515 IPI protein binding
GO:0005622 IEA intracellular
GO:0005634 IDA nucleus
GO:0005737 IDA cytoplasm
GO:0005769 IDA early endosome
GO:0005795 TAS Golgi stack
GO:0005798 TAS Golgi-associated vesicle
GO:0005802 IDA trans-Golgi network
GO:0005829 TAS cytosol
GO:0005886 IDA plasma membrane
GO:0005905 IEA coated pit
GO:0006629 NAS lipid metabolic process
GO:0006644 TAS phospholipid metabolic process
GO:0006661 TAS phosphatidylinositol biosynthetic process
GO:0007165 IEA signal transduction
GO:0007264 TAS small GTPase mediated signal transduction
GO:0030136 IDA clathrin-coated vesicle
GO:0030675 IDA Rac GTPase activator activity
GO:0032314 IDA regulation of Rac GTPase activity
GO:0032855 IDA positive regulation of Rac GTPase activity
GO:0042384 IMP cilium assembly
GO:0043647 TAS inositol phosphate metabolic process
GO:0044281 TAS small molecule metabolic process
GO:0046856 IEA phosphatidylinositol dephosphorylation
GO:0048365 IPI Rac GTPase binding
GO:0051056 TAS regulation of small GTPase mediated signal transduction
GO:0052745 NAS inositol phosphate phosphatase activity
GO:0070062 IDA extracellular vesicular exosome

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000060541 ocrl oculocerebrorenal syndrome of Lowe protein_coding Danio_rerio
ENSDARG00000078106 ocrl oculocerebrorenal syndrome of Lowe protein_coding Danio_rerio
ENSMUSG00000001173 Ocrl oculocerebrorenal syndrome of Lowe protein_coding Mus_musculus

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