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
ENST00000269228 NPC1-001 ENSG00000141458 9606 - 18:23531437-23586898 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000269228
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000269228 5.506±0.00 5.682±0.00 1.191±0.00 11.421±7.59 3.122±1.37 6.603±0.00 3.600±0.00 6.164±0.00 2.184±0.56 9.570±6.65 6.610±0.00 7.149±0.17 9.544±3.10 6.012±3.27

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:0004872 TAS receptor activity
GO:0004888 TAS transmembrane signaling receptor activity
GO:0005515 IPI protein binding
GO:0005576 ISS extracellular region
GO:0005635 IDA nuclear envelope
GO:0005764 ISS lysosome
GO:0005765 IDA lysosomal membrane
GO:0005768 IEA endosome
GO:0005783 IDA endoplasmic reticulum
GO:0005794 IEA Golgi apparatus
GO:0005886 IEA plasma membrane
GO:0005887 IDA integral component of plasma membrane
GO:0006486 IDA protein glycosylation
GO:0006897 IEA endocytosis
GO:0006914 IGI autophagy
GO:0007041 ISS lysosomal transport
GO:0007165 IEA signal transduction
GO:0007628 IEA adult walking behavior
GO:0008158 IEA hedgehog receptor activity
GO:0008203 IEA cholesterol metabolic process
GO:0008206 ISS bile acid metabolic process
GO:0015248 TAS sterol transporter activity
GO:0015485 IDA cholesterol binding
GO:0016020 IDA:IEA membrane
GO:0016021 TAS:IEA integral component of membrane
GO:0016242 IEA negative regulation of macroautophagy
GO:0030301 IDA:IEA cholesterol transport
GO:0031579 IMP membrane raft organization
GO:0031982 IEA vesicle
GO:0033344 IDA cholesterol efflux
GO:0042493 IEA response to drug
GO:0042632 ISS cholesterol homeostasis
GO:0045121 IEA membrane raft
GO:0046686 IEA response to cadmium ion
GO:0048471 IDA perinuclear region of cytoplasm
GO:0060548 IEA negative regulation of cell death
GO:0070062 IDA extracellular vesicular exosome
GO:0071383 IEA cellular response to steroid hormone stimulus
GO:0071404 IEA cellular response to low-density lipoprotein particle stimulus
GO:0090150 IDA establishment of protein localization to membrane

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENSMUST00000025279 Npc1-001 protein_coding Mus_musculus 0 3633
ENSMUST00000145771 Npc1-006 processed_transcript Mus_musculus 0 516
ENSMUST00000149211 Npc1-003 retained_intron Mus_musculus 0 305
ENSMUST00000144435 Npc1-005 processed_transcript Mus_musculus 0 230
ENSMUST00000133112 Npc1-002 retained_intron Mus_musculus 0 193
ENSMUST00000025276 3110002H16Rik-001 protein_coding Mus_musculus 4.99983e-42 178
ENSMUST00000134756 3110002H16Rik-009 retained_intron Mus_musculus 1.99993e-41 176
ENSMUST00000139151 3110002H16Rik-004 retained_intron Mus_musculus 1.99993e-41 176
ENSMUST00000127123 3110002H16Rik-003 retained_intron Mus_musculus 1.99993e-41 176
ENSMUST00000153233 3110002H16Rik-008 retained_intron Mus_musculus 1e-23 117

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