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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: oculocerebrorenal syndrome of Lowe
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000357121 OCRL-002 ENSG00000122126 9606 + X:129540275-129592561 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000357121
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

Conserved Regions

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

Gene Ontology

GO IDEvidence TypeGO Description
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 Biotype Species E-Value Bit Score
ENSMUST00000001202 Ocrl-001 protein_coding Mus_musculus 0 3733
ENSMUST00000115020 Ocrl-004 protein_coding Mus_musculus 0 2603
ENSMUST00000142719 Ocrl-003 processed_transcript Mus_musculus 0 1762
ENSMUST00000115013 Ocrl-005 protein_coding Mus_musculus 0 1242
ENSMUST00000154732 Ocrl-007 protein_coding Mus_musculus 0 527
ENSMUST00000146486 Ocrl-006 retained_intron Mus_musculus 0 254

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