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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: paroxysmal nonkinesiogenic dyskinesia
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000026179 Pnkd 10090 + 1:74284930-74353694 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000027370 Pnkd-001 74285045-74353684 protein_coding
  ENSMUST00000087225 Pnkd-004 74332610-74353686 protein_coding
  ENSMUST00000087226 Pnkd-002 74285055-74353694 protein_coding
  ENSMUST00000113805 Pnkd-003 74284930-74287454 protein_coding
  ENSMUST00000129219 Pnkd-005 74285050-74286634 retained_intron
  ENSMUST00000138620 Pnkd-007 74285054-74347566 retained_intron
  ENSMUST00000152492 Pnkd-006 74285777-74287273 retained_intron
  ENSMUST00000190398 Pnkd-008 74332663-74336261 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000027370ENSMUST00000087225ENSMUST00000087226ENSMUST00000113805ENSMUST00000129219ENSMUST00000138620ENSMUST00000152492
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000027370 N/A N/A N/A 15.099±3.54 N/A N/A N/A N/A N/A N/A 1.564±0.40 2.351±0.81 3.420±1.70 N/A
ENSMUST00000087225 8.051±2.92 3.723±0.32 2.969±0.55 7.427±2.69 7.124±2.50 1.465±0.20 9.903±2.23 11.925±1.64 22.113±13.09 9.928±0.41 2.613±0.86 6.708±2.35 1.699±0.86 14.865±0.75
ENSMUST00000087226 N/A N/A 2.178±0.29 N/A N/A 1.488±0.00 N/A 2.256±0.00 0.820±0.28 N/A 2.739±1.26 3.540±2.04 3.029±1.26 2.195±0.00
ENSMUST00000113805 31.617±8.13 40.035±5.98 22.749±2.09 14.663±0.00 23.503±2.65 27.794±3.12 35.823±6.78 59.783±7.98 21.365±5.05 19.105±0.75 22.354±2.66 21.764±3.72 16.148±5.89 34.401±15.46
ENSMUST00000129219 N/A 25.906±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENSMUST00000138620 N/A 30.449±9.83 N/A N/A N/A 16.334±4.59 N/A N/A N/A N/A N/A N/A N/A N/A
ENSMUST00000152492 N/A 31.973±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A 25.612±0.00 25.613±4.60 22.236±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0007WL CIL_0007WL_0002 VISTA 1:73730234-74332407
CIL_0005VJ CIL_0005VJ_0002 CGP 1:74279840-74353694
CIL_0005VI CIL_0005VI_0002 CGP 1:74284930-74353694

Gene Ontology
GO IDEvidence TypeGO Description
GO:0003674 ND molecular_function
GO:0004416 IEA hydroxyacylglutathione hydrolase activity
GO:0005515 IEA protein binding
GO:0005634 IEA nucleus
GO:0005739 IDA mitochondrion
GO:0006750 IEA glutathione biosynthetic process
GO:0008270 IEA zinc ion binding
GO:0016020 ISO membrane
GO:0032225 IMP regulation of synaptic transmission, dopaminergic
GO:0042053 IMP regulation of dopamine metabolic process
GO:0050884 IMP neuromuscular process controlling posture

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000071032 pnkd paroxysmal nonkinesigenic dyskinesia protein_coding Danio_rerio
ENSG00000127838 PNKD paroxysmal nonkinesigenic dyskinesia protein_coding Homo_sapiens

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