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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: Niemann-Pick disease, type C1
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000591051 NPC1-003 ENSG00000141458 9606 - 18:23531946-23560342 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000591051
Transcript ID Adipose Adrenal Brain Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000591051 4.975±0.00 5.237±0.00 10.804±0.00 5.890±0.00 0.334±0.00 2.207±0.00 2.481±0.00 7.618±4.09 1.419±0.00 3.999±1.37 9.640±3.63 8.220±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0005WY CIL_0005WY_0001 CGP 18:23452823-23531807
CIL_0005WX CIL_0005WX_0001 CGP 18:23503470-23586898
CIL_0005WW CIL_0005WW_0001 CGP 18:23506184-23662885

Gene Ontology

GO IDEvidence TypeGO Description
GO:0008158 IEA hedgehog receptor activity
GO:0016020 IEA membrane
GO:0016021 IEA integral component of membrane
GO:0030301 IEA cholesterol transport

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENSMUST00000025279 Npc1-001 protein_coding Mus_musculus 0 1988
ENSMUST00000145771 Npc1-006 processed_transcript Mus_musculus 0 457

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