Fig. 5

Schematic of filtration pipeline for variants in non-coding regions. a Schematic for SNVs. b Schematic for CNVs. Abbeviations; SNV- single nucleotide variant, TFBS – Transcription Factor Binding Site, FANTOM-Enhancer sequence as annotated by the Fantom consortium. UTR – untranslated regions. DDD- Deciphering Development Disabilities. UPP – Ubiquitin proteosome degredation pathway. CN- copy number. Patient 42 had DVPRR in the UTRs of two genes; CBL and UBE3B. Patient 59 had a DVPRR in the promoter of UBE3A, patient 43 had a DVPRR in the promoter of CUL4B, and patient 42 had DVPRRs in the promoters of UBE3A, CUL4B and CUL7 (Additional file 10: Table S8)