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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing

Fig. 3

Deleted non-coding region in SLC16A2 gene exhibiting regulatory features. A detailed genomic overview of a 2.9 kb deletion (chrX:74,460,691 − 74,463,566; hg38) located within intron 1 of the SLC16A2 gene is presented, flanked by AluY repetitive sequences. The deletion encompasses multiple transcription factor binding sites predicted from the JASPAR database, including those for RORA and RORC, which coincide with regions conserved across 30 mammalian species. An eQTL (rs1263181), identified by GTEx, is indicated by a yellow dot, suggesting a regulatory function. The conservation profile, repetitive elements, and transcription factor sites provide insights into the regulatory potential of the non-coding region

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BMC Medical Genomics

ISSN: 1755-8794

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