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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info

Description: nephronophthisis 3 (adolescent)
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000337331 NPHP3-006 ENSG00000113971 9606 - 3:132681628-132722442 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; BreastColonLiverLungOvaryENST00000337331
Transcript ID Breast Colon Liver Lung Ovary
ENST00000337331 2.789±0.00 3.429±0.00 3.915±0.00 3.774±0.00 4.458±0.37

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology

GO IDEvidence TypeGO Description
GO:0001822 IMP kidney development
GO:0001947 IMP heart looping
GO:0003283 IMP atrial septum development
GO:0005515 IPI:IEA protein binding
GO:0005929 IDA cilium
GO:0007368 IMP determination of left/right symmetry
GO:0016055 IEA Wnt signaling pathway
GO:0030324 IMP lung development
GO:0035469 IMP determination of pancreatic left/right asymmetry
GO:0045494 IMP photoreceptor cell maintenance
GO:0048496 IMP maintenance of organ identity
GO:0060027 IGI convergent extension involved in gastrulation
GO:0060271 ISS cilium morphogenesis
GO:0060287 IC epithelial cilium movement involved in determination of left/right asymmetry
GO:0060993 IMP kidney morphogenesis
GO:0071908 IMP determination of intestine left/right asymmetry
GO:0071909 IMP determination of stomach left/right asymmetry
GO:0071910 IMP determination of liver left/right asymmetry
GO:0072189 IMP ureter development
GO:0072372 IDA primary cilium
GO:0090090 IDA negative regulation of canonical Wnt signaling pathway
GO:2000095 ISS regulation of Wnt signaling pathway, planar cell polarity pathway
GO:2000167 IC regulation of planar cell polarity pathway involved in neural tube closure

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENSMUST00000035167 Nphp3-201 protein_coding Mus_musculus 0 3976
ENSMUST00000129819 Nphp3-001 nonsense_mediated_decay Mus_musculus 0 3517
ENSMUST00000147249 NPHP3-001 protein_coding Mus_musculus 0 263

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