DAPP1Dual adaptor of phosphotyrosine and 3-phosphoinositides
Autism Reports / Total Reports
2 / 3Rare Variants / Common Variants
3 / 0Aliases
DAPP1, HSPC066, BAM32Associated Syndromes
-Chromosome Band
4q23Associated Disorders
-Relevance to Autism
A novel recurrent duplication involving the DAPP1 gene was identified in two unrelated ASD cases (Prasad et al., 2012).
Molecular Function
May act as a B-cell-associated adapter that regulates B-cell antigen receptor (BCR)-signaling downstream of PI3K.
External Links
SFARI Genomic Platforms
Reports related to DAPP1 (3 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | A discovery resource of rare copy number variations in individuals with autism spectrum disorder | Prasad A , et al. (2013) | Yes | - |
2 | Support | De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism | Cappi C , et al. (2019) | No | - |
3 | Support | - | Zhou X et al. (2022) | Yes | - |
Rare Variants (3)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | copy_number_gain | Familial | Paternal | Simplex | 23275889 | Prasad A , et al. (2013) | |
c.764G>C | p.Arg255Pro | missense_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
c.352G>A | p.Glu118Lys | missense_variant | De novo | - | Simplex | 31771860 | Cappi C , et al. (2019) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
A novel recurrent duplication involving the DAPP1 gene was identified in two unrelated ASD cases; this variant was not detected in 5139 controls (FET two-tailed p=0.01421) (Prasad et al., 2012).
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
1/1/2020
Score remained at 2
Description
A novel recurrent duplication involving the DAPP1 gene was identified in two unrelated ASD cases; this variant was not detected in 5139 controls (FET two-tailed p=0.01421) (Prasad et al., 2012).
10/1/2019
Decreased from 3 to 2
New Scoring Scheme
Description
A novel recurrent duplication involving the DAPP1 gene was identified in two unrelated ASD cases; this variant was not detected in 5139 controls (FET two-tailed p=0.01421) (Prasad et al., 2012).
Reports Added
[New Scoring Scheme]7/1/2015
Increased from to 3
Description
A novel recurrent duplication involving the DAPP1 gene was identified in two unrelated ASD cases; this variant was not detected in 5139 controls (FET two-tailed p=0.01421) (Prasad et al., 2012).
Krishnan Probability Score
Score 0.44223213111623
Ranking 17709/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.18349367996427
Ranking 7131/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.93144984548253
Ranking 11703/18665 scored genes
[Show Scoring Methodology]
Larsen Cumulative Evidence Score
Score 4
Ranking 303/461 scored genes
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Zhang D Score
Score -0.21868956465528
Ranking 15810/20870 scored genes
[Show Scoring Methodology]