NPTNneuroplastin
Autism Reports / Total Reports
3 / 3Rare Variants / Common Variants
3 / 0Aliases
-Associated Syndromes
-Chromosome Band
15q24.1Associated Disorders
-Relevance to Autism
Li et al., 2023 determined that a de novo coding-synonymous variant in the NPTN gene originally identified in an ASD proband from the Autism Sequencing Consortium in Satterstrom et al., 2020 was a non-canonical splicing variant; subsequent functional analysis by minigene splicing assays demonstrated that this variant resulted in loss of 180 base pairs from exon 6 of this gene. De novo missense variants have also been identified in two ASD probands from the SPARK cohort (Trost et al., 2022).
Molecular Function
This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions.
External Links
SFARI Genomic Platforms
Reports related to NPTN (3 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Support | Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism | Satterstrom FK et al. (2020) | Yes | - |
| 2 | Support | - | Trost B et al. (2022) | Yes | - |
| 3 | Primary | - | et al. () | Yes | - |
Rare Variants (3)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.139G>C | p.Ala47Pro | missense_variant | De novo | - | - | 36368308 | Trost B et al. (2022) | |
| c.1114G>A | p.Asp372Asn | missense_variant | De novo | - | - | 36368308 | Trost B et al. (2022) | |
| c.936C>T | p.Gly312= | synonymous_variant | De novo | - | - | 31981491 | Satterstrom FK et al. (2020) |
Common Variants
No common variants reported.