This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated differentially methylated region (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing results in different transcript variants. A pseudogene has been defined on chromosome 4. [provided by RefSeq, Apr 2017]
Transcription factors with Perturb-seq knockdown data for GET1. 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 = GET1 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 |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of GET1, 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 |
|---|---|---|---|---|
| chr21:39,182,840–39,184,214 | 196.7 kb | Distal (>10kb) Multiome | 1028 | |
| chr21:39,312,364–39,314,680 | 66.5 kb | Distal (>10kb) Multiome HiCAR | 1121 | |
| chr21:39,332,179–39,332,739 | 47.9 kb | Distal (>10kb) Multiome | 188 | |
| chr21:39,348,209–39,350,114 | 31.1 kb | Distal (>10kb) Multiome | 923 | |
| chr21:39,380,111–39,380,888 | 28 bp | At TSS Multiome | 663 | |
| chr21:39,387,404–39,389,039 | 8.5 kb | Proximal (<10kb) Multiome | 713 | |
| chr21:39,429,900–39,431,278 | 50.3 kb | Distal (>10kb) Multiome HiCAR | 277 | |
| chr21:39,445,343–39,446,179 | 65.5 kb | Distal (>10kb) Multiome | 837 | |
| chr21:39,451,559–39,452,036 | 71.4 kb | Distal (>10kb) Multiome | 267 | |
| chr21:39,612,590–39,613,211 | 232.6 kb | Distal (>10kb) Multiome | 208 |
Genomic view of the GET1 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.