WHRN
whirlin | CIP98, PDZD7B, USH2D, DFNB31

This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

Biological processes 47 terms
USH2 complex (GO:1990696)USH2 complex (GO:1990696)actin filament (GO:0005884)auditory receptor cell stereocilium organization (GO:0060088)cerebellar Purkinje cell layer formation (GO:0021694)ciliary basal body (GO:0036064)cilium (GO:0005929)cilium (GO:0005929)cytoplasm (GO:0005737)cytoplasm (GO:0005737)detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)establishment of protein localization (GO:0045184)growth cone (GO:0030426)identical protein binding (GO:0042802)identical protein binding (GO:0042802)inner ear receptor cell differentiation (GO:0060113)inner ear receptor cell stereocilium organization (GO:0060122)inner ear receptor cell stereocilium organization (GO:0060122)neuronal cell body (GO:0043025)paranodal junction maintenance (GO:1990227)periciliary membrane compartment (GO:1990075)periciliary membrane compartment (GO:1990075)photoreceptor connecting cilium (GO:0032391)photoreceptor connecting cilium (GO:0032391)photoreceptor inner segment (GO:0001917)photoreceptor inner segment (GO:0001917)plasma membrane (GO:0005886)protein binding (GO:0005515)retina homeostasis (GO:0001895)retina homeostasis (GO:0001895)retina homeostasis (GO:0001895)sensory perception of light stimulus (GO:0050953)sensory perception of sound (GO:0007605)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 bundle (GO:0032421)stereocilium tip (GO:0032426)stereocilium tip (GO:0032426)stereocilium tip (GO:0032426)synapse (GO:0045202)
Expression (TPM)
WHRN — as a Regulated Gene

TFs regulating WHRN 0 TFs

Transcription factors with Perturb-seq knockdown data for WHRN. 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 = WHRN upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to WHRN

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of WHRN, 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.

Accessibility Element Dist. to TSS Link type TFs
chr9:114,370,337–114,371,120 134.9 kb Distal (>10kb) Multiome 151
chr9:114,387,530–114,388,416 117.4 kb Distal (>10kb) Multiome 315
chr9:114,397,621–114,398,973 107.1 kb Distal (>10kb) Multiome 744
chr9:114,405,604–114,406,064 99.7 kb Distal (>10kb) Multiome 266
chr9:114,409,093–114,409,699 96.2 kb Distal (>10kb) Multiome 85
chr9:114,501,767–114,502,643 2.8 kb Proximal (<10kb) 262
chr9:114,504,150–114,506,064 120 bp At TSS Multiome 672
chr9:114,583,376–114,584,037 78.2 kb Distal (>10kb) Multiome HiCAR 117
chr9:114,587,169–114,588,239 82.2 kb Distal (>10kb) Multiome 922
chr9:114,610,961–114,612,019 106.0 kb Distal (>10kb) Multiome 923
chr9:114,799,438–114,800,403 294.5 kb Distal (>10kb) Multiome 162

Genome Browser

Genomic view of the WHRN 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.

chr9:114,360,337 – 114,810,403
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq