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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: paroxysmal nonkinesigenic dyskinesia
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000273077 PNKD-001 ENSG00000127838 9606 + 2:218270485-218346793 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; BrainHeartMuscleENST00000273077
Transcript ID Brain Heart Muscle
ENST00000273077 15.930±0.00 0.177±0.00 0.327±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0005VJ CIL_0005VJ_0001 CGP 2:218264123-218346793
CIL_0005VI CIL_0005VI_0001 CGP 2:218270392-218346793

Gene Ontology

GO IDEvidence TypeGO Description
GO:0004416 IEA hydroxyacylglutathione hydrolase activity
GO:0005515 IPI protein binding
GO:0005634 IEA nucleus
GO:0005739 IDA mitochondrion
GO:0006750 IEA glutathione biosynthetic process
GO:0008270 IEA zinc ion binding
GO:0016020 IDA membrane
GO:0032225 IEA regulation of synaptic transmission, dopaminergic
GO:0042053 IEA regulation of dopamine metabolic process
GO:0050884 IEA neuromuscular process controlling posture

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENSMUST00000027370 Pnkd-001 protein_coding Mus_musculus 0 1585
ENSMUST00000087225 Pnkd-004 protein_coding Mus_musculus 0 1242
ENSMUST00000087226 Pnkd-002 protein_coding Mus_musculus 0 1240
ENSMUST00000138620 Pnkd-007 retained_intron Mus_musculus 0 507
ENSMUST00000113805 Pnkd-003 protein_coding Mus_musculus 0 387
ENSMUST00000129219 Pnkd-005 retained_intron Mus_musculus 0 346
ENSMUST00000152492 Pnkd-006 retained_intron Mus_musculus 0 200

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