Enhancers that regulate DES[ENSG00000175084.7]
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Chrom. Start End Enhancer ID TSS of gene Distance between enhancer and TSS Tissues that enhancer appears More
chr2 220207565 220211755 enh94429 220283099 71344
chr2 220213425 220219415 enh34277 220283099 63684
chr2 220215460 220215932 vista34809 220283099 67167
chr2 220225093 220230057 enh44999 220283099 53042
chr2 220231345 220236575 enh19245 220283099 46524
chr2 220269765 220275755 enh19246 220283099 7344
chr2 220271494 220272006 vista1007 220283099 11093
chr2 220293872 220296961 vista1008 220283099 10773
chr2 220299136 220303330 enh102658 220283099 16037
chr2 220309812 220325015 enh34278 220283099 26713
chr2 220317654 220318040 vista34810 220283099 34555
chr2 220374836 220375176 vista34811 220283099 91737
chr2 220376290 220376386 vista34812 220283099 93191
chr2 220382789 220394323 enh19247 220283099 99690

Transcript facotrs that regulate DES[ENSG00000175084.7]
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Chrom. Start End TF name Source Predicted site? Tissue TSS of gene Distance between TFBS and gene id More

Chrom. Position dbSNP ID Reference Allele Alternative Allele Distance between TSS and SNP Tissue q Value id More
chr2 220300642 rs114709058 C G 9181 Esophagus 0.178592 6371806
chr2 220386284 rs12997339 G A 94823 Heart 0.829803 6372132
chr2 221180994 rs150272171 T C 889533 Ovary 0.427684 6377158
chr2 220069082 rs4674365 T C 214017 Uterus 0.473374 6370883
chr2 220908750 rs144388724 G A 617289 Thyroid 0.045849 6375348

Genomic Location chr2:220283099-220291461[+]
TSS 220283099
Gene Name DES
Ensembl ID ENSG00000175084.7
ENTREZID 1674
Uniprot
Q53SB5
P17661
Protein Name
isoform CRA_a
Desmin
Desmin
Mutant desmin p.K241E