EnhancerDB
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Enhancers that regulate PNKD[ENSG00000127838.9]
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Chrom. Start End Enhancer ID TSS of gene Distance between enhancer and TSS Tissues that enhancer appears More
chr2 219043265 219047810 enh53569 219135115 87305
Large Intestine
chr2 219049028 219055350 enh19238 219135115 79765
Cervix (HeLa-S3) Brain (SK-N-MC) Large Intestine Placenta Pancreas Muscle (Myotube) Stomach
chr2 219083825 219092675 enh34274 219135115 42440
Blood (T-cell) Esophagus Astrocyte Blood (OCI-LY7) Muscle (A673) Peripheral Blood (MM.1S) Thymus Stomach
chr2 219103205 219108555 enh6150 219135115 26560
Blood (Karpas-422)
chr2 219123242 219127392 enh65398 219135115 7723
Heart
chr2 219144265 219154598 enh6151 219135115 9150
Prostate (PC-3) Cervix (HeLa-S3) Blood (GM12878) Placenta Blood (Karpas-422) Pancreas Blood (T-cell)
chr2 219152622 219152760 vista34768 219135115 17507
VISTA
chr2 219155683 219156025 vista34769 219135115 20568
VISTA
chr2 219159703 219168321 enh19239 219135115 24588
Liver (HepG2) Prostate (RWPE1) Placenta Colon (HCT116) Pancreas (Panc1) Lung (PC-9) Pancreas Spleen Neural Stem Cells (H9) Stomach
chr2 219169145 219179490 enh6152 219135115 34030
Liver (HepG2) Large Intestine Stomach Placenta Blood (Karpas-422) Lung (PC-9) Epithelial (MCF-7)
chr2 219172762 219172931 vista34770 219135115 37647
VISTA
chr2 219177286 219177625 vista34771 219135115 42171
VISTA
chr2 219183525 219199416 enh6153 219135115 48410
Blood (OCI-LY7) Blood (GM12878) Stomach Placenta Blood (Karpas-422) Embryonic Stem Cell Line (H1-hESC) Heart
chr2 219188663 219189129 vista34772 219135115 53548
VISTA
chr2 219194230 219194517 vista34773 219135115 59115
VISTA
chr2 219194739 219194938 vista34774 219135115 59624
VISTA
chr2 219198042 219198221 vista34775 219135115 62927
VISTA
chr2 219219385 219223535 enh91335 219135115 84270
Bone Marrow (K562)
chr2 219229705 219238122 enh6154 219135115 94590
Bone (Osteoblast) Blood (OCI-LY7) Placenta Blood (Karpas-422) Pancreas Uterus
chr2 219235108 219235675 vista34776 219135115 99993
VISTA
Transcript facotrs that regulate PNKD[ENSG00000127838.9]
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Chrom. Start End TF name Source Predicted site? Tissue TSS of gene Distance between TFBS and gene id More
SNPs associated with PNKD[ENSG00000127838.9], confirmed by eQTL
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Chrom. Position dbSNP ID Reference Allele Alternative Allele Distance between TSS and SNP Tissue q Value id More
chr2 218861107 rs149254666 C T 274008 Esophagus 0.0112254 6366354
chr2 219167563 rs13427681 G C 0 Heart 0.0015167 6367665
chr2 219184167 rs13399246 C T 0 Pancreas 0.000711552 6367823
chr2 218795497 rs4674231 G A 339618 Breast 0.322562 6365621
chr2 218822007 rs3791889 T C 313108 Uterus 0.406489 6365912
chr2 219188577 rs10194082 C T 0 Thyroid 2.99576e-18 6367899
chr2 219190590 rs72951243 C T 0 Lung 2.26066e-05 6367925
chr2 219105616 rs369930937 C CA 29499 Stomach 0.0678802 6367300
Details of PNKD[ENSG00000127838.9]
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Genomic Location chr2:219135115-219211516[+]
TSS 219135115
Gene Name PNKD
Ensembl ID ENSG00000127838.9
ENTREZID 25953
Uniprot
A0A024R415
Q8N490
Protein Name
isoform CRA_a
Alternative protein PNKD
Paroxysmal nonkinesiogenic dyskinesia
Probable hydrolase PNKD
Expression levels of PNKD[ENSG00000127838.9]
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