PDZD7

PDZ domain containing 7 | FLJ23209, bA108L7.8, DFNB57, PDZK7

This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

Biological processes 27 terms

USH2 complex (GO:1990696)auditory receptor cell development (GO:0060117)auditory receptor cell stereocilium organization (GO:0060088)auditory receptor cell stereocilium organization (GO:0060088)cilium (GO:0005929)cilium (GO:0005929)cilium (GO:0005929)detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)establishment of protein localization (GO:0045184)extracellular region (GO:0005576)identical protein binding (GO:0042802)inner ear receptor cell differentiation (GO:0060113)nucleus (GO:0005634)nucleus (GO:0005634)organelle (GO:0043226)plasma membrane (GO:0005886)plasma membrane bounded cell projection (GO:0120025)protein binding (GO:0005515)sensory perception of sound (GO:0007605)stereocilia ankle link (GO:0002141)stereocilia ankle link (GO:0002141)stereocilia ankle link complex (GO:0002142)stereocilia ankle link complex (GO:0002142)stereocilia ankle link complex (GO:0002142)stereocilium (GO:0032420)stereocilium (GO:0032420)stereocilium tip (GO:0032426)

Expression (TPM)

TFs regulating PDZD7 0 TFs

Transcription factors with Perturb-seq knockdown data for PDZD7. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = PDZD7 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

TF	Mean coef	Binding	Outlier	TF→Gene link

Rows:

Elements linked to PDZD7

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of PDZD7, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Element	Dist. to TSS	Link type	TFs
chr10:100,744,447–100,746,357	285.5 kb	Distal (>10kb) Multiome	379
chr10:100,912,455–100,913,519	118.2 kb	Distal (>10kb) Multiome	906
chr10:100,968,950–100,970,567	61.8 kb	Distal (>10kb) Multiome	681
chr10:100,987,003–100,987,794	43.7 kb	Distal (>10kb) Multiome	786
chr10:100,996,424–100,998,696	34.2 kb	Distal (>10kb) Multiome	945
chr10:100,998,810–101,000,165	31.6 kb	Distal (>10kb) Multiome	845
chr10:101,018,377–101,019,461	12.1 kb	Distal (>10kb) Multiome	654
chr10:101,030,588–101,032,521	12 bp	At TSS Multiome	613
chr10:101,042,527–101,043,387	11.8 kb	Distal (>10kb) Multiome	655
chr10:101,048,051–101,048,547	17.1 kb	Distal (>10kb) Multiome	87
chr10:101,049,966–101,050,753	19.2 kb	Distal (>10kb) Multiome	412
chr10:101,060,073–101,063,211	31.6 kb	Distal (>10kb) Multiome	1124
chr10:101,066,181–101,066,983	35.4 kb	Distal (>10kb) Multiome	734
chr10:101,067,105–101,068,123	36.7 kb	Distal (>10kb) Multiome	643
chr10:101,095,368–101,096,269	64.6 kb	Distal (>10kb) Multiome	326
chr10:101,131,094–101,132,387	100.2 kb	Distal (>10kb) Multiome	289
chr10:101,139,407–101,140,520	108.7 kb	Distal (>10kb) Multiome	158
chr10:101,161,678–101,162,270	130.8 kb	Distal (>10kb) Multiome	336
chr10:101,214,601–101,215,378	183.8 kb	Distal (>10kb) Multiome	302
chr10:101,217,392–101,218,117	186.6 kb	Distal (>10kb) Multiome	203
chr10:101,236,527–101,237,332	205.9 kb	Distal (>10kb) Multiome	123
chr10:101,285,534–101,286,046	254.8 kb	Distal (>10kb) Multiome	150
chr10:101,291,317–101,293,346	260.6 kb	Distal (>10kb) Multiome	433
chr10:101,311,194–101,311,678	280.1 kb	Distal (>10kb) Multiome	94

Genome Browser

Genomic view of the PDZD7 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.