The landscape of SETBP1 gene expression and transcription factor activity across human tissues.

ABSTRACT:

Background

The SET binding protein 1 (SETBP1) gene encodes a transcription factor (TF) involved in various cellular processes. Distinct SETBP1 variants have been linked to three different diseases. Germline variants cause the ultra-rare pediatric Schinzel Giedion Syndrome (SGS) and SETBP1 haploinsufficiency disorder (SETBP1-HD), characterized by severe multisystemic abnormalities with neurodegeneration or a less severe brain phenotype accompanied by hypotonia and strabismus, respectively. Somatic variants in SETBP1 are associated with hematological malignancies and cancer development in other tissues in adults.

Results

To better understand the tissue-specific mechanisms involving SETBP1, we analyzed publicly available RNA-sequencing

SUBMITTER: Whitlock JH 

PROVIDER: S-EPMC10592643 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature