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)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000144061 NPHP1 9606 - 2:110122311-110205066 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000316534 NPHP1-002 110122311-110205042 protein_coding
  ENST00000355301 NPHP1-004 110123708-110204972 protein_coding
  ENST00000393272 NPHP1-001 110123336-110205066 protein_coding
  ENST00000417665 NPHP1-007 110123708-110204995 protein_coding
  ENST00000418527 NPHP1-003 110178041-110204999 protein_coding
  ENST00000422492 NPHP1-010 110125399-110129259 protein_coding
  ENST00000445609 NPHP1-011 110123336-110204992 protein_coding
  ENST00000449600 NPHP1-008 110178754-110204961 nonsense_mediated_decay
  ENST00000461707 NPHP1-006 110123588-110205001 retained_intron
  ENST00000493051 NPHP1-009 110128952-110144548 retained_intron
  ENST00000496524 NPHP1-005 110123348-110205017 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000316534ENST00000355301ENST00000393272ENST00000417665ENST00000418527ENST00000445609ENST00000461707ENST00000496524
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000316534 N/A 0.206±0.00 N/A N/A N/A N/A 0.140±0.00 N/A N/A N/A N/A N/A N/A N/A
ENST00000355301 0.638±0.00 0.681±0.00 0.204±0.00 0.690±0.10 1.001±0.66 0.767±0.55 0.323±0.21 0.141±0.00 N/A 1.184±0.00 3.024±0.00 0.721±0.09 0.226±0.03 2.704±0.00
ENST00000393272 N/A N/A N/A 0.194±0.00 N/A N/A 0.088±0.00 N/A N/A N/A 0.186±0.00 0.448±0.00 0.198±0.00 3.078±1.10
ENST00000417665 N/A N/A N/A 0.292±0.00 N/A 0.288±0.09 0.404±0.00 1.392±0.00 0.443±0.00 1.013±0.00 N/A 0.594±0.11 0.174±0.05 5.359±0.19
ENST00000418527 N/A N/A 0.870±0.00 N/A 0.427±0.00 N/A N/A 0.707±0.43 0.191±0.00 N/A N/A 1.450±0.00 0.318±0.04 N/A
ENST00000445609 N/A N/A N/A N/A N/A 0.296±0.00 0.293±0.00 0.543±0.00 N/A 0.518±0.13 0.648±0.00 1.298±0.50 0.167±0.03 N/A
ENST00000461707 0.219±0.00 0.515±0.00 N/A 0.160±0.01 0.610±0.00 0.197±0.00 0.129±0.00 0.381±0.00 0.172±0.11 N/A 0.110±0.00 0.422±0.20 N/A 1.301±0.00
ENST00000496524 N/A N/A 0.098±0.00 0.056±0.00 0.032±0.00 0.045±0.00 0.060±0.00 0.081±0.07 0.041±0.03 0.292±0.00 0.103±0.07 0.253±0.00 0.018±0.00 0.791±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00047N CIL_00047N_0001 CGP 2:110083870-110205066
CIL_00047M CIL_00047M_0001 CGP 2:110122311-110245420

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005198 NAS structural molecule activity
GO:0005515 IPI:IEA protein binding
GO:0005737 IEA cytoplasm
GO:0005856 IEA cytoskeleton
GO:0005911 IDA cell-cell junction
GO:0005923 IEA tight junction
GO:0007165 NAS signal transduction
GO:0007588 TAS excretion
GO:0007632 NAS visual behavior
GO:0016020 NAS membrane
GO:0016337 NAS single organismal cell-cell adhesion
GO:0030030 ISS cell projection organization
GO:0030036 NAS actin cytoskeleton organization
GO:0031514 IDA motile cilium
GO:0032391 ISS photoreceptor connecting cilium
GO:0034613 IEA cellular protein localization
GO:0035845 IEA photoreceptor cell outer segment organization
GO:0035869 IEA ciliary transition zone
GO:0048515 ISS spermatid differentiation
GO:0060041 ISS retina development in camera-type eye
GO:0097546 IEA ciliary base

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000009046 nphp1 nephronophthisis 1 protein_coding Danio_rerio
ENSMUSG00000027378 Nphp1 nephronophthisis 1 (juvenile) homolog (human) protein_coding Mus_musculus

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