MAGEC3MAGE family member C3
Autism Reports / Total Reports
4 / 4Rare Variants / Common Variants
3 / 0Aliases
-Associated Syndromes
-Chromosome Band
Xq27.2Associated Disorders
-Relevance to Autism
Application of a modified transmission disequilibrium test to 13,052 male ASD probands from the Simons Simplex Collection and the SPARK cohort and 2,295 male sibling controls in Wang et al., 2023 identified MAGEC3 as a gene displaying significant overtransmission of rare X-linked damaging variants to ASD probands versus male sibling controls (P = 2.10E-07, chromosome-X-wide Bonferroni corrected P = 0.00017); this gene also passed exome-wide significance (exome-wide Bonferroni corrected P = 0.0041). A study examining rare hemizygous knockouts in male ASD probands had previously identified the same MAGEC3 nonsense variant (p.Gln193Ter) in two separate male probands; this variant was not observed in female ASD probands or in either male or female controls in this study (Lim et al., 2013). Additional hemizygous variants in MAGEC3 have also been identified in male ASD probands from the AGRE cohort, including a frameshift variant identified in both ASD-affected brothers in a multiplex family (Chahrour et al., 2012; Cirnigliaro et al., 2023).
Molecular Function
This gene is a member of the MAGEC gene family. The members of this family are not expressed in normal tissues, except for testis, and are expressed in tumors of various histological types. The MAGEC genes are clustered on chromosome Xq26-q27.
External Links
SFARI Genomic Platforms
Reports related to MAGEC3 (4 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Support | Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism | Chahrour MH , et al. (2012) | Yes | - |
2 | Support | Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders | Lim ET , et al. (2013) | Yes | - |
3 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
4 | Primary | - | Sheng Wang et al. (2023) | Yes | - |
Rare Variants (3)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.577C>T | p.Gln193Ter | stop_gained | Unknown | - | Unknown | 23352160 | Lim ET , et al. (2013) | |
c.880C>G | p.Leu294Val | missense_variant | Unknown | - | Extended multiplex | 22511880 | Chahrour MH , et al. (2012) | |
c.653_656dup | p.Gly220HisfsTer13 | frameshift_variant | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) |
Common Variants
No common variants reported.
SFARI Gene score
High Confidence


Score Delta: Score remained at 1
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.
4/1/2024

Increased from to 1
Krishnan Probability Score
Score 0.49276186220942
Ranking 4416/25841 scored genes
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ExAC Score
Score 3.2490215491358E-8
Ranking 15939/18225 scored genes
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Sanders TADA Score
Score 0.94590218811777
Ranking 16655/18665 scored genes
[Show Scoring Methodology]