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| Mendeliome v1.4477 | FOXF1 upstream regulatory region | Sarah Milton Variant type for FOXF1 upstream regulatory region was changed from small to cnv_loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4476 | FOXF1 upstream regulatory region |
Sarah Milton Region: FOXF1 upstream regulatory region was added Region: FOXF1 upstream regulatory region was added to Mendeliome. Sources: Literature Mode of inheritance for Region: FOXF1 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: FOXF1 upstream regulatory region were set to PMID: 27822317, 27071622, 23034409, 24842713 Phenotypes for Region: FOXF1 upstream regulatory region were set to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380 Review for Region: FOXF1 upstream regulatory region was set to GREEN Added comment: FOXF1 is a transcription factor involved in maintaining endothelial barrier through activation of S1P/S1PR1 signalling for integrity of adherens junctions. An approximately 60kb enhancer 270kb upstream of the FOXF1 gene has been identified with copy number changes in this region seen in over 10 affected individuals with biopsy confirmed alveolar capillary dysplasia with misalignment of pulmonary veins. Interestingly a large number of the deletions identified were de novo on the maternal allele. Deletion size ranged between 104kb to 2625kb, coordinates from this entry are from a minimal overlapping region. The enhancer region has binding motifs for a number of transcription factors, as well as this there is a non coding RNA (LINC01081) within the region that is thought to play a role with regulation of FOXF1 transcription. Supportive functional studies with RNAi-mediated knock-down of LINC01081 in normal fetal lung fibroblasts showed that this lncRNA positively regulates FOXF1 transcript level. Sources: Literature |
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