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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000182372 CLN8 9606 + 8:1755778-1786572 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000331222 CLN8-001 1763762-1786572 protein_coding
  ENST00000517514 CLN8-006 1755788-1759511 processed_transcript
  ENST00000518780 CLN8-007 1755781-1759501 processed_transcript
  ENST00000519254 CLN8-005 1772924-1780772 processed_transcript
  ENST00000520991 CLN8-004 1763803-1771567 retained_intron
  ENST00000523237 CLN8-008 1773584-1780766 processed_transcript
  ENST00000524258 CLN8-002 1755778-1771294 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000331222ENST00000519254ENST00000520991ENST00000523237
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
ENST00000519254 N/A N/A N/A N/A N/A N/A 1.099±0.00 N/A 3.146±0.00 N/A N/A N/A 6.355±1.55 N/A
ENST00000520991 N/A N/A 2.477±0.00 2.134±0.00 N/A 4.714±0.00 N/A 5.622±0.00 N/A 3.024±0.00 3.382±0.00 1.158±0.00 5.351±0.00 N/A
ENST00000523237 N/A N/A 2.295±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A

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

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000075525 cln8 ceroid-lipofuscinosis, neuronal 8 protein_coding Danio_rerio
ENSMUSG00000026317 Cln8 ceroid-lipofuscinosis, neuronal 8 protein_coding Mus_musculus

Loading