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 6, late infantile, variant
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000249806 CLN6-001 ENSG00000128973 9606 - 15:68206992-68229742 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'; AdiposeAdrenalBreastKidneyLiverLungMuscleOvaryPlacentaTestisENST00000249806
Transcript ID Adipose Adrenal Breast Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000249806 9.212±0.00 16.989±0.00 12.196±0.00 14.200±0.00 7.869±0.00 10.435±0.00 11.192±0.00 21.976±6.10 19.781±2.98 16.053±0.00

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology

GO IDEvidence TypeGO Description
GO:0001573 IMP ganglioside metabolic process
GO:0005515 IPI protein binding
GO:0005634 IDA nucleus
GO:0005783 IDA endoplasmic reticulum
GO:0005788 IDA endoplasmic reticulum lumen
GO:0007040 IEA lysosome organization
GO:0007042 IMP lysosomal lumen acidification
GO:0007601 IEA visual perception
GO:0008203 IMP cholesterol metabolic process
GO:0008219 IEA cell death
GO:0016020 IDA membrane
GO:0016021 NAS integral component of membrane
GO:0030163 NAS protein catabolic process
GO:0030203 IMP glycosaminoglycan metabolic process
GO:0031987 IEA locomotion involved in locomotory behavior
GO:0042803 IDA protein homodimerization activity
GO:0043231 IDA intracellular membrane-bounded organelle
GO:0044265 IEA cellular macromolecule catabolic process
GO:0045862 IMP positive regulation of proteolysis

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENSMUST00000034776 Cln6-001 protein_coding Mus_musculus 0 1050
ENSMUST00000138276 Cln6-003 nonsense_mediated_decay Mus_musculus 0 582
ENSMUST00000124984 Cln6-004 protein_coding Mus_musculus 0 355
ENSMUST00000156423 Gm10653-003 processed_transcript Mus_musculus 0 254
ENSMUST00000132250 Gm10653-002 processed_transcript Mus_musculus 0 254
ENSMUST00000141821 Cln6-002 nonsense_mediated_decay Mus_musculus 0 211

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