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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000331222 CLN8-001 ENSG00000182372 9606 + 8:1763762-1786572 protein_coding

Homo sapiens EnsemblGRCh38

Genome
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Genes
Structures from Ensembl
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Transcripts
Structures from Ensembl
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Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000331222
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000331222 1.349±0.00 2.672±0.00 0.764±0.00 3.288±2.98 1.729±1.30 0.869±0.17 0.925±0.57 1.954±1.69 1.429±0.58 2.821±0.00 0.750±0.00 1.572±0.12 2.487±0.51 2.278±0.22

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0007GK CIL_0007GK_0002 CGP 8:1501366-1786572
CIL_0007GL CIL_0007GL_0002 CGP 8:1755778-1958641

Gene Ontology

GO IDEvidence TypeGO Description
GO:0001306 IEA age-dependent response to oxidative stress
GO:0005739 IEA mitochondrion
GO:0005783 IDA endoplasmic reticulum
GO:0005793 IDA endoplasmic reticulum-Golgi intermediate compartment
GO:0006644 IMP phospholipid metabolic process
GO:0006672 IMP ceramide metabolic process
GO:0006869 NAS lipid transport
GO:0007006 IEA mitochondrial membrane organization
GO:0007040 IEA lysosome organization
GO:0007399 IMP nervous system development
GO:0007601 IEA visual perception
GO:0007628 IEA adult walking behavior
GO:0008203 IMP cholesterol metabolic process
GO:0008219 IEA cell death
GO:0008306 IEA associative learning
GO:0008344 IEA adult locomotory behavior
GO:0008361 IEA regulation of cell size
GO:0008610 NAS lipid biosynthetic process
GO:0016021 NAS:IEA integral component of membrane
GO:0021522 IEA spinal cord motor neuron differentiation
GO:0021523 IEA somatic motor neuron differentiation
GO:0030163 NAS protein catabolic process
GO:0035176 IEA social behavior
GO:0043066 IEA negative regulation of apoptotic process
GO:0044257 IEA cellular protein catabolic process
GO:0044265 IEA cellular macromolecule catabolic process
GO:0044267 IEA cellular protein metabolic process
GO:0045494 IEA photoreceptor cell maintenance
GO:0045861 NAS negative regulation of proteolysis
GO:0046513 NAS ceramide biosynthetic process
GO:0050881 IEA musculoskeletal movement
GO:0050884 IEA neuromuscular process controlling posture
GO:0050885 IEA neuromuscular process controlling balance
GO:0051348 IEA negative regulation of transferase activity
GO:0051935 IEA L-glutamate uptake involved in synaptic transmission
GO:0060041 IEA retina development in camera-type eye
GO:0060052 IEA neurofilament cytoskeleton organization

Homologs

No Homologs available.

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