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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: nephronophthisis 1 (juvenile) homolog (human)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000027378 Nphp1 10090 - 2:127740732-127788897 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000028857 Nphp1-002 127740732-127788854 protein_coding
  ENSMUST00000110357 Nphp1-001 127740736-127788897 protein_coding
  ENSMUST00000144938 Nphp1-004 127740734-127744547 processed_transcript
  ENSMUST00000148033 Nphp1-003 127745622-127754070 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000028857ENSMUST00000110357ENSMUST00000144938ENSMUST00000148033
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000028857 2.357±0.95 1.313±0.43 2.700±0.72 2.578±0.46 1.369±0.29 0.811±0.26 1.058±0.47 4.720±0.64 0.827±0.38 1.029±0.32 7.921±0.92 4.755±3.91 0.636±0.50 70.738±20.66
ENSMUST00000110357 3.981±0.66 2.770±0.36 6.937±0.01 5.252±1.09 2.449±1.02 0.714±0.35 3.042±0.40 8.131±0.54 1.419±1.01 4.726±0.47 4.496±1.06 5.379±2.03 0.785±0.29 226.186±22.39
ENSMUST00000144938 2.962±0.00 N/A N/A N/A N/A 0.497±0.00 N/A N/A N/A N/A N/A N/A N/A N/A
ENSMUST00000148033 N/A N/A N/A N/A N/A 1.280±0.00 N/A N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00047N CIL_00047N_0002 CGP 2:127704386-127788897
CIL_00047M CIL_00047M_0002 CGP 2:127740732-127792488

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005515 IPI protein binding
GO:0005737 IEA cytoplasm
GO:0005856 IEA cytoskeleton
GO:0005911 ISS cell-cell junction
GO:0005923 IEA tight junction
GO:0030030 IMP cell projection organization
GO:0031514 ISS motile cilium
GO:0032391 IDA photoreceptor connecting cilium
GO:0034613 IGI cellular protein localization
GO:0035845 IGI photoreceptor cell outer segment organization
GO:0035869 IDA ciliary transition zone
GO:0048515 IMP spermatid differentiation
GO:0060041 IMP retina development in camera-type eye
GO:0097546 IDA ciliary base

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000009046 nphp1 nephronophthisis 1 protein_coding Danio_rerio
ENSG00000144061 NPHP1 nephronophthisis 1 (juvenile) protein_coding Homo_sapiens

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