PATJPATJ, crumbs cell polarity complex component
Autism Reports / Total Reports
7 / 7Rare Variants / Common Variants
10 / 1Aliases
PATJ, Cipp, INADL, InaD-like, hINADLAssociated Syndromes
-Chromosome Band
1p31.3Associated Disorders
ASDRelevance to Autism
Three case-specific loss-of-function variants were identified in the PATJ gene (formerly known as INADL) following the sequencing of 215 synaptic genes in 147 cases with ASD, 273 cases with schizophrenia, and 287 controls (Kenny et al., 2013). Quantitative GWAS analysis of 2,509 ASD probands from a German cohort and the Autism Genome Project in Yousaf et al., 2020 identified an intronic SNP in the PATJ gene (rs2095092) that reached genome-wide significance for association with the Social Interaction subdomain of the Autism Diagnostic Interview-Revised (ADI-R) (P-value 4.3E-08).
Molecular Function
This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors.
External Links
SFARI Genomic Platforms
Reports related to PATJ (7 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders | Kenny EM , et al. (2013) | Yes | - |
| 2 | Support | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | C Yuen RK et al. (2017) | Yes | - |
| 3 | Support | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
| 4 | Positive Association | Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder | Yousaf A et al. (2020) | Yes | ASD sub-phenotype |
| 5 | Support | - | Zhou X et al. (2022) | Yes | - |
| 6 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
| 7 | Support | - | Soo-Whee Kim et al. (2024) | Yes | - |
Rare Variants (10)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| C>T | - | stop_gained | De novo | - | Multiplex | 28263302 | C Yuen RK et al. (2017) | |
| c.5043+3A>G | - | splice_region_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| GC>C | - | frameshift_variant | Unknown | - | Unknown | 24126926 | Kenny EM , et al. (2013) | |
| TC>T | - | frameshift_variant | Unknown | - | Unknown | 24126926 | Kenny EM , et al. (2013) | |
| c.3838C>T | p.Arg1280Ter | stop_gained | Unknown | - | Unknown | 24126926 | Kenny EM , et al. (2013) | |
| c.2133A>T | p.Arg711Ser | missense_variant | De novo | - | - | 39334436 | Soo-Whee Kim et al. (2024) | |
| c.847C>T | p.Arg283Ter | stop_gained | Familial | Maternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) | |
| c.3204-1G>A | - | splice_site_variant | Familial | Paternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) | |
| c.5376_5378+1del | - | splice_site_variant | Familial | Paternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) | |
| c.4276del | p.Ala1426GlnfsTer11 | frameshift_variant | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) |
Common Variants (1)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.3492+2316T>C | - | intron_variant | - | - | - | 32624584 | Yousaf A et al. (2020) |
SFARI Gene score
Strong Candidate
Three case-specific loss-of-function variants were identified in PATJ (formerly known as INADL) following the sequencing of 215 synaptic genes in 147 cases with ASD, 273 cases with schizophrenia, and 287 controls (Kenny et al., 2013); one ASD case was observed with a frameshift variant in unknown origin in this study. A de novo nonsense variant in this gene was identified in an ASD proband from a multiplex family from the Autism Genetic Resource Exchange in Yuen et al., 2017.
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.
4/1/2022
Decreased from 3 to 2
Description
Three case-specific loss-of-function variants were identified in PATJ (formerly known as INADL) following the sequencing of 215 synaptic genes in 147 cases with ASD, 273 cases with schizophrenia, and 287 controls (Kenny et al., 2013); one ASD case was observed with a frameshift variant in unknown origin in this study. A de novo nonsense variant in this gene was identified in an ASD proband from a multiplex family from the Autism Genetic Resource Exchange in Yuen et al., 2017.
7/1/2020
Decreased from 3 to 3
Description
Three case-specific loss-of-function variants were identified in PATJ (formerly known as INADL) following the sequencing of 215 synaptic genes in 147 cases with ASD, 273 cases with schizophrenia, and 287 controls (Kenny et al., 2013); one ASD case was observed with a frameshift variant in unknown origin in this study. A de novo nonsense variant in this gene was identified in an ASD proband from a multiplex family from the Autism Genetic Resource Exchange in Yuen et al., 2017.
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
Three case-specific loss-of-function variants were identified in PATJ (formerly known as INADL) following the sequencing of 215 synaptic genes in 147 cases with ASD, 273 cases with schizophrenia, and 287 controls (Kenny et al., 2013); one ASD case was observed with a frameshift variant in unknown origin in this study. A de novo nonsense variant in this gene was identified in an ASD proband from a multiplex family from the Autism Genetic Resource Exchange in Yuen et al., 2017.
Reports Added
[New Scoring Scheme]7/1/2019
Decreased from 4 to 4
Description
Three case-specific loss-of-function variants were identified in PATJ (formerly known as INADL) following the sequencing of 215 synaptic genes in 147 cases with ASD, 273 cases with schizophrenia, and 287 controls (Kenny et al., 2013); one ASD case was observed with a frameshift variant in unknown origin in this study. A de novo nonsense variant in this gene was identified in an ASD proband from a multiplex family from the Autism Genetic Resource Exchange in Yuen et al., 2017.
7/1/2018
Increased from to 4
Description
Three case-specific loss-of-function variants were identified in PATJ (formerly known as INADL) following the sequencing of 215 synaptic genes in 147 cases with ASD, 273 cases with schizophrenia, and 287 controls (Kenny et al., 2013); one ASD case was observed with a frameshift variant in unknown origin in this study. A de novo nonsense variant in this gene was identified in an ASD proband from a multiplex family from the Autism Genetic Resource Exchange in Yuen et al., 2017.