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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: nephronophthisis 1 (juvenile) homolog (human)
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENSMUST00000028857 Nphp1-002 ENSMUSG00000027378 10090 - 2:127740732-127788854 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000028857
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

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 Biotype Species E-Value Bit Score
ENST00000316534 NPHP1-002 protein_coding Homo_sapiens 0 1214
ENST00000355301 NPHP1-004 protein_coding Homo_sapiens 0 1319
ENST00000393272 NPHP1-001 protein_coding Homo_sapiens 0 1208
ENST00000417665 NPHP1-007 protein_coding Homo_sapiens 0 1234
ENST00000445609 NPHP1-011 protein_coding Homo_sapiens 0 1491
ENST00000461707 NPHP1-006 retained_intron Homo_sapiens 0 1218
ENST00000493051 NPHP1-009 retained_intron Homo_sapiens 0 291
ENST00000496524 NPHP1-005 retained_intron Homo_sapiens 0 728

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