ADGRB1adhesion G protein-coupled receptor B1
Autism Reports / Total Reports
8 / 8Rare Variants / Common Variants
8 / 0Aliases
-Associated Syndromes
-Chromosome Band
8q24.3Associated Disorders
-Relevance to Autism
Two de novo missense variants with CADD scores > 30 were identified in the ADGRB1 gene in a Korean ASD proband in Kim et al., 2024; this gene was subsequently classified as an ASD candidate gene in males following a combined TADA analysis consisting of the Korean ASD cohort described in Kim et al., 2024 in addition to the Simons Simplex Collection and the SPARK cohort. A de novo loss-of-function variant in ADGRB1 was identified in an SSC proband, and two additional de novo missense variants with CADD scores > 30 were identified in this gene in ASD probands from the Autism Sequencing Consortium and SPARK (Iossifov et al., 2014; Satterstrom et al., 2020; Zhou et al., 2022). De novo missense variants in ADGRB1 have also been identified in ASD probands from Japanese and Chinese cohorts (Takata et al., 2018; Yuan et al., 2023; Wang et al., 2023).
Molecular Function
Inhibits MDM2-mediated ubiquitination and degradation of DLG4/PSD95, promoting DLG4 stability and regulating synaptic plasticity. Required for the formation of dendritic spines by ensuring the correct localization of PARD3 and TIAM1.
External Links
SFARI Genomic Platforms
Reports related to ADGRB1 (8 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Support | The contribution of de novo coding mutations to autism spectrum disorder | Iossifov I et al. (2014) | 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 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder | Takata A , et al. (2018) | Yes | - |
| 4 | Support | Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism | Satterstrom FK et al. (2020) | Yes | - |
| 5 | Support | - | Zhou X et al. (2022) | Yes | - |
| 6 | Support | - | Yuan B et al. (2023) | Yes | - |
| 7 | Support | - | Wang J et al. (2023) | Yes | - |
| 8 | Primary | - | Soo-Whee Kim et al. (2024) | Yes | - |
Rare Variants (8)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.1870G>A | p.Ala624Thr | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.2840C>T | p.Pro947Leu | missense_variant | De novo | - | - | 36881370 | Yuan B et al. (2023) | |
| c.86G>C | p.Arg29Pro | missense_variant | De novo | - | Simplex | 37393044 | Wang J et al. (2023) | |
| c.3246C>G | p.Tyr1082Ter | stop_gained | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
| c.3418T>C | p.Cys1140Arg | missense_variant | De novo | - | - | 39334436 | Soo-Whee Kim et al. (2024) | |
| c.3593G>A | p.Arg1198His | missense_variant | De novo | - | - | 31981491 | Satterstrom FK et al. (2020) | |
| c.2744A>G | p.Asp915Gly | missense_variant | De novo | - | Simplex | 29346770 | Takata A , et al. (2018) | |
| c.55_57del | p.Leu19del | inframe_deletion | De novo | - | Simplex | 28263302 | C Yuen RK et al. (2017) |
Common Variants
No common variants reported.
SFARI Gene score
Suggestive Evidence
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.