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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: paroxysmal nonkinesigenic dyskinesia
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000127838 PNKD 9606 + 2:218270392-218346793 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000248451 PNKD-003 218270392-218272947 protein_coding
  ENST00000258362 PNKD-002 218323173-218346791 protein_coding
  ENST00000273077 PNKD-001 218270485-218346793 protein_coding
  ENST00000436005 PNKD-007 218334703-218344981 protein_coding
  ENST00000469689 PNKD-004 218270520-218272911 retained_intron
  ENST00000472650 PNKD-005 218271380-218318256 processed_transcript
  ENST00000483797 PNKD-008 218340095-218340889 retained_intron
  ENST00000494954 PNKD-006 218316728-218318008 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000248451ENST00000258362ENST00000273077ENST00000436005ENST00000469689
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000248451 18.942±0.00 35.548±0.00 3.726±0.00 29.305±18.73 29.547±27.62 29.704±26.07 19.188±15.45 30.741±26.69 2.726±0.00 17.051±14.48 8.905±2.61 25.145±16.31 35.445±6.80 33.448±14.54
ENST00000258362 3.682±0.00 11.823±0.00 0.716±0.00 5.840±2.55 2.343±0.00 1.599±0.00 2.758±0.00 5.696±4.77 38.070±37.72 3.062±1.92 N/A 19.111±12.87 19.243±4.34 13.150±2.18
ENST00000273077 N/A N/A N/A 15.930±0.00 N/A N/A 0.177±0.00 N/A N/A N/A 0.327±0.00 N/A N/A N/A
ENST00000436005 N/A N/A 7.164±0.00 N/A 1.684±0.00 0.979±0.00 N/A 8.139±0.00 1.234±0.00 2.507±0.00 N/A 6.347±0.00 N/A N/A
ENST00000469689 N/A N/A N/A N/A N/A 0.641±0.00 0.367±0.00 N/A 0.931±0.00 N/A N/A N/A N/A N/A

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 Description Biotype Species
ENSDARG00000071032 pnkd paroxysmal nonkinesigenic dyskinesia protein_coding Danio_rerio
ENSMUSG00000026179 Pnkd paroxysmal nonkinesiogenic dyskinesia protein_coding Mus_musculus

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