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)
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000393272 NPHP1-001 ENSG00000144061 9606 - 2:110123336-110205066 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; BrainHeartMuscleOvaryPlacentaTestisENST00000393272
Transcript ID Brain Heart Muscle Ovary Placenta Testis
ENST00000393272 0.194±0.00 0.088±0.00 0.186±0.00 0.448±0.00 0.198±0.00 3.078±1.10

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:0048515 ISS spermatid differentiation
GO:0060041 ISS retina development in camera-type eye

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENSMUST00000110357 Nphp1-001 protein_coding Mus_musculus 0 1223
ENSMUST00000028857 Nphp1-002 protein_coding Mus_musculus 0 1208
ENSMUST00000148033 Nphp1-003 retained_intron Mus_musculus 0 217

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