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Table 1 Transcription factor binding sites predicted in the deleted region from the JASPAR 2022 database

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

TF

JASPAR ID

Position (hg38)

Strand

Motif sequence

Score

ZNF460

MA1596.1

chrX:74,460,763–74,460,778

+

gCCTCaGCCTCCCgag

756

ZNF354A

MA1872.1

chrX:74,460,812–74,460,832

-

.taa.tatAAAtGgactaatT

641

ZNF460

MA1596.1

chrX:74,460,898–74,460,913

+

gCCTCaGCCTCCCgag

747

ZNF135

MA1587.1

chrX:74,460,899–74,460,912

+

cCTCGACCTCCtga

630

Stat2

MA1623.1

chrX:74,461,310–74,461,322

-

agAAAcAGAAA.

641

ZNF701

MA1876.1

chrX:74,461,504–74,461,524

+

GAGcAccaaaGGGGGga….

652

RORA

MA0072.1

chrX:74,461,608–74,461,621

-

.atAa.TAGGTCAa

621

RORC

MA1151.1

chrX:74,461,609–74,461,620

-

.tAa.TaGGtCA

632

Zic1::Zic2

MA1628.1

chrX:74,461,942–74,461,952

-

c.CAGCAGG.

662

FOXD3

MA0041.2

chrX:74,462,321–74,462,336

-

c.CAGCAGG.

614

ZNF135

MA1587.1

chrX:74,462,401–74,462,414

+

cCTCGACCTCCtga

632

ZNF460

MA1596.1

chrX:74,462,432–74,462,447

+

gCCTCaGCCTCCCgag

963

ZNF460

MA1596.1

chrX:74,462,565–74,462,580

+

gCCTCaGCCTCCCgag

669

RBPJ

MA1116.1

chrX:74,463,053–74,463,062

+

.TGGGAA.

602

ZNF384

MA1125.1

chrX:74,463,533–74,463,544

-

.taAAAAAAaa

622

ZNF384

MA1125.1

chrX:74,463,535–74,463,546

-

.taAAAAAAaa

611

  1. This table lists the predicted binding sites for various transcription factors within a deleted genomic region, each with a score above 600 (P-value ≤ 10− 6), according to the JASPAR 2022 database. Each entry includes the genomic position, JASPAR ID, transcription factor (TF) name, strand orientation (+ for sense, - for antisense), the DNA motif sequence, and the prediction score. Lowercase letters in motif sequences indicate a lower confidence in base identification