BAIAP2L1BAR/IMD domain containing adaptor protein 2 like 1
Autism Reports / Total Reports
6 / 6Rare Variants / Common Variants
9 / 0Aliases
-Associated Syndromes
-Chromosome Band
7q21.3-q22.1Associated Disorders
-Relevance to Autism
Rare de novo variants in the BAIAP2L1 gene have been identified in ASD probands, including a de novo missense variant (p.Ala481Val) in a proband from the Simons Simplex Collection (Iossifov et al., 2014; Sanders et al., 2015; Yuen et al., 2017; Turner et al., 2017; Satterstrom et al., 2020). Functional assessment of the ASD-associated p.Ala481Val missense variant in Drosophila using an overexpression-based strategy in Macrogliese et al., 2022 demonstrated that flies overexpressing BAIAP2L1-p.Ala481Val exhibited a smaller, more crumpled wing phenotype compared to the reference allele, consistent with a gain-of-function effect.
Molecular Function
This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation.
External Links
SFARI Genomic Platforms
Reports related to BAIAP2L1 (6 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | The contribution of de novo coding mutations to autism spectrum disorder | Iossifov I et al. (2014) | Yes | - |
2 | Support | Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci | Sanders SJ , et al. (2015) | Yes | - |
3 | Support | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | C Yuen RK et al. (2017) | Yes | - |
4 | Support | Genomic Patterns of De Novo Mutation in Simplex Autism | Turner TN et al. (2017) | Yes | - |
5 | Support | Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism | Satterstrom FK et al. (2020) | Yes | - |
6 | Recent Recommendation | - | Marcogliese PC et al. (2022) | Yes | - |
Rare Variants (9)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.52-9182A>C | - | intron_variant | De novo | - | Simplex | 28263302 | C Yuen RK et al. (2017) | |
c.215-16593G>T | - | intron_variant | De novo | - | Simplex | 28263302 | C Yuen RK et al. (2017) | |
c.*211A>G | - | 3_prime_UTR_variant | De novo | - | Simplex | 28965761 | Turner TN et al. (2017) | |
c.1423-1873G>A | - | intron_variant | De novo | - | Multiplex | 28263302 | C Yuen RK et al. (2017) | |
c.214+14205G>T | - | intron_variant | De novo | - | Multiplex | 28263302 | C Yuen RK et al. (2017) | |
c.487-10_487-9insATTA | - | intron_variant | De novo | - | - | 26402605 | Sanders SJ , et al. (2015) | |
c.*805G>A | - | 3_prime_UTR_variant | De novo | - | Simplex | 31981491 | Satterstrom FK et al. (2020) | |
c.640-34_640-32del | - | intron_variant | De novo | - | Multiplex | 28263302 | C Yuen RK et al. (2017) | |
c.1442C>T | p.Ala481Val | missense_variant | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) |
Common Variants
No common variants reported.
SFARI Gene score
Suggestive Evidence


Score Delta: Score remained at 3
criteria met
See SFARI Gene'scoring criteriaThe literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as "acc" in the score cards) could also boost a gene from category 4 to 3.
4/1/2022

Increased from to 3
Krishnan Probability Score
Score 0.33366400667054
Ranking 24533/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.042773725631072
Ranking 8719/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.85290680244497
Ranking 3568/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.1843458709359
Ranking 15066/20870 scored genes
[Show Scoring Methodology]