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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Norrie disease (pseudoglioma)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000124479 NDP 9606 - X:43948776-43973504 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000378062 NDP-001 43948776-43973504 protein_coding
  ENST00000470584 NDP-002 43949682-43973386 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; BrainBreastColonHeartKidneyMuscleOvaryPlacentaTestisENST00000378062
Transcript ID Brain Breast Colon Heart Kidney Muscle Ovary Placenta Testis
ENST00000378062 6.610±5.49 0.153±0.07 0.055±0.00 0.013±0.00 0.014±0.00 0.057±0.00 3.018±3.28 7.495±4.68 1.706±1.27

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0001JL CIL_0001JL_0002 CGP X:43766611-43973504
CIL_0001JM CIL_0001JM_0002 CGP X:43948776-44343672

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001890 IEA placenta development
GO:0005109 IPI frizzled binding
GO:0005125 IEA cytokine activity
GO:0005515 IPI protein binding
GO:0005615 IDA extracellular space
GO:0007033 TAS vacuole organization
GO:0007165 TAS signal transduction
GO:0007267 TAS cell-cell signaling
GO:0007399 TAS nervous system development
GO:0007601 IEA visual perception
GO:0007605 NAS sensory perception of sound
GO:0008083 TAS growth factor activity
GO:0008283 TAS cell proliferation
GO:0009986 IDA cell surface
GO:0016055 IDA Wnt signaling pathway
GO:0031012 IDA extracellular matrix
GO:0035426 IEA extracellular matrix-cell signaling
GO:0042803 IPI protein homodimerization activity
GO:0045893 IDA positive regulation of transcription, DNA-templated
GO:0051091 IEA positive regulation of sequence-specific DNA binding transcription factor activity
GO:0060070 IDA canonical Wnt signaling pathway
GO:0061299 IEA retina vasculature morphogenesis in camera-type eye

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000076569 ndp Norrie disease (pseudoglioma) protein_coding Danio_rerio
ENSMUSG00000040138 Ndp Norrie disease (pseudoglioma) (human) protein_coding Mus_musculus

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