EnhancerDB
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Enhancers that regulate GAA[ENSG00000171298.8]
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Chrom. Start End Enhancer ID TSS of gene Distance between enhancer and TSS Tissues that enhancer appears More
chr17 77955405 77983735 enh17427 78075355 91620
Prostate (PC-3) Liver (HepG2) Brain (SK-N-SH) Brain (SK-N-MC) Large Intestine Prostate (RWPE1) Esophagus Astrocyte Ovary Blood (T-cell) Bone (Osteoblast) Muscle (A673) Placenta Colon (HCT116) Muscle (Myoblast) Pancreas (Panc1) Muscle (Myotube) Uterus Thymus Stomach
chr17 77979653 77979899 vista26304 78075355 95456
VISTA
chr17 77990350 77990422 vista26305 78075355 84933
VISTA
chr17 77991905 78006935 enh44506 78075355 68420
Prostate (PC-3) Brain (SK-N-SH) Epithelial (MCF-7) Large Intestine Lung (PC-9) Esophagus Lung Stomach Muscle (A673) Thyroid Uterus Muscle (Myoblast) Pancreas Muscle (Myotube) Neural Stem Cells (H9) Heart
chr17 78008584 78008924 vista26306 78075355 66431
VISTA
chr17 78023284 78023378 vista26307 78075355 51977
VISTA
chr17 78024725 78031655 enh99456 78075355 43700
Uterus Brain (SK-N-MC) Stomach
chr17 78040165 78048135 enh44507 78075355 27220
Bone (Osteoblast) Lung Pancreas Muscle (Myotube) Uterus Stomach
chr17 78087852 78088239 vista26308 78075355 12497
VISTA
chr17 78095665 78102035 enh17428 78075355 20310
Pancreas Placenta Bone (Osteoblast) Epithelial (MCF-7)
chr17 78098181 78098723 vista26309 78075355 22826
VISTA
chr17 78102448 78102482 vista26310 78075355 27093
VISTA
chr17 78121490 78121818 vista26311 78075355 46135
VISTA
chr17 78126105 78126434 vista26312 78075355 50750
VISTA
chr17 78132194 78137065 enh69323 78075355 56839
Neural Stem Cells (H9)
chr17 78134342 78134588 vista26313 78075355 58987
VISTA
chr17 78134790 78135293 vista26314 78075355 59435
VISTA
chr17 78147325 78151475 enh17429 78075355 71970
Placenta Cervix (HeLa-S3)
chr17 78149249 78149503 vista26315 78075355 73894
VISTA
Transcript facotrs that regulate GAA[ENSG00000171298.8]
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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 GAA[ENSG00000171298.8], 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
chr17 78075462 rs2304849 G C 0 Esophagus 2.21512e-14 5099928
chr17 78075462 rs2304849 G C 0 Esophagus 3.33471e-32 5099928
chr17 78075462 rs2304849 G C 0 Heart 8.73554e-15 5099928
chr17 78075228 rs2304850 C T 127 Heart 1.5834e-11 5099923
chr17 78075228 rs2304850 C T 127 Breast 1.02531e-19 5099923
chr17 78075228 rs2304850 C T 127 Ovary 1.45099e-09 5099923
chr17 78075462 rs2304849 G C 0 Lung 1.17856e-37 5099928
Details of GAA[ENSG00000171298.8]
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Genomic Location chr17:78075355-78093678[+]
TSS 78075355
Gene Name GAA
Ensembl ID ENSG00000171298.8
ENTREZID 2548
Uniprot
P10253
Protein Name
alpha acid
Glucosidase
Lysosomal alpha-glucosidase
Expression levels of GAA[ENSG00000171298.8]
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