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Figure 1 — Sporadic autism exomes reveal a highly interconnected protein network of de novo
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Created: 2026-04-26T23:22:43
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Figure 1Figure 1
a Haplotype phasing using informative markers shows a strong parent-of-origin bias with 41/51 de novo events occurring on the paternally inherited haplotype. b and c, Box and whisker plots for 189 SSC probands. b , The paternal estimated age at conception versus the number of observed de novo point mutations (0, n = 53; 1, n = 65; 2, n = 44; 3+, n = 27). c, Decreased nonverbal IQ is significantly associated with an increasing number of “extreme” mutation events (0, n = 138; 1, n = 41; 2+, n = 10), both with and without CNVs ( Supplementary Discussion ). d, Browser images showing CNVs identified in del(18)(q12.2q21.1) syndrome region. Truncating point mutation in SETBP1 occurs within the critical region, identifying the likely causative locus. Each red (deletion) and green (duplication) line represents an identified CNV in cases (solid lines) versus controls (dashed lines), with arrowheads showing point mutation.
▸Metadata
| pmid | paper-2ce452f1-1eac-4e56-a7a0-abf3bc640f1e |
| caption | a Haplotype phasing using informative markers shows a strong parent-of-origin bias with 41/51 de novo events occurring on the paternally inherited haplotype. b and c, Box and whisker plots for |
| image_url | |
| paper_title | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations |
| figure_label | Figure 1 |
| figure_number | 1 |
| _schema_version | 1 |
| source_strategy | pmc_xml |
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