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 6, late infantile, variant
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000128973 CLN6 9606 - 15:68206992-68257211 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000249806 CLN6-001 68206992-68229742 protein_coding
  ENST00000538696 CLN6-004 68208067-68257106 protein_coding
  ENST00000563917 CLN6-007 68209626-68214367 retained_intron
  ENST00000564752 CLN6-006 68208327-68229709 protein_coding
  ENST00000564846 CLN6-002 68213257-68257211 retained_intron
  ENST00000565471 CLN6-008 68207630-68229671 protein_coding
  ENST00000566347 CLN6-005 68208040-68229718 protein_coding
  ENST00000567060 CLN6-003 68207933-68229670 nonsense_mediated_decay
  ENST00000569336 CLN6-009 68217413-68229670 processed_transcript

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 Description Biotype Species
ENSDARG00000077584 cln6a ceroid-lipofuscinosis, neuronal 6a protein_coding Danio_rerio
ENSDARG00000090002 cln6b ceroid-lipofuscinosis, neuronal 6b protein_coding Danio_rerio
ENSMUSG00000032245 Cln6 ceroid-lipofuscinosis, neuronal 6 protein_coding Mus_musculus

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