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
ENSMUSG00000001173 Ocrl 10090 + X:47912387-47965868 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000001202 Ocrl-001 47912387-47965868 protein_coding
  ENSMUST00000115013 Ocrl-005 47960289-47965763 protein_coding
  ENSMUST00000115020 Ocrl-004 47912438-47957092 protein_coding
  ENSMUST00000142719 Ocrl-003 47912455-47957075 processed_transcript
  ENSMUST00000144664 Ocrl-002 47912467-47915582 retained_intron
  ENSMUST00000146486 Ocrl-006 47930178-47931320 retained_intron
  ENSMUST00000154732 Ocrl-007 47938391-47948233 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000001202ENSMUST00000115013ENSMUST00000115020ENSMUST00000154732
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000001202 1.007±0.17 N/A 3.190±0.12 4.048±1.34 N/A 0.692±0.08 0.782±0.00 0.623±0.08 0.544±0.33 1.109±0.25 1.396±0.58 3.499±1.74 0.934±0.43 0.503±0.14
ENSMUST00000115013 7.587±2.07 12.545±3.13 7.426±1.55 7.564±1.98 6.108±2.22 5.320±1.13 3.164±0.35 3.194±0.64 1.743±0.69 5.000±2.64 1.903±0.50 9.689±3.04 1.832±0.72 1.618±0.67
ENSMUST00000115020 N/A 3.131±0.00 N/A N/A 1.273±0.08 1.105±0.00 1.017±0.00 N/A 0.329±0.00 N/A N/A 1.922±0.24 N/A N/A
ENSMUST00000154732 N/A N/A N/A 14.960±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A 2.028±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0000A1 CIL_0000A1_0002 CGP X:47809368-47965868

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001701 IGI in utero embryonic development
GO:0001750 IEA photoreceptor outer segment
GO:0004439 IDA phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
GO:0005515 IEA protein binding
GO:0005634 IEA nucleus
GO:0005737 IEA cytoplasm
GO:0005769 IEA early endosome
GO:0005794 ISS Golgi apparatus
GO:0005802 IEA trans-Golgi network
GO:0005886 IEA plasma membrane
GO:0005905 IEA coated pit
GO:0007165 IEA signal transduction
GO:0030136 IEA clathrin-coated vesicle
GO:0030675 IEA Rac GTPase activator activity
GO:0032314 IEA regulation of Rac GTPase activity
GO:0032855 IEA positive regulation of Rac GTPase activity
GO:0042384 IEA cilium assembly
GO:0046856 IDA phosphatidylinositol dephosphorylation
GO:0048365 IEA Rac GTPase binding
GO:0070062 IEA 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
ENSG00000122126 OCRL oculocerebrorenal syndrome of Lowe protein_coding Homo_sapiens

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