Human Gene Module / Chromosome 7 / MUC12

MUC12mucin 12, cell surface associated

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
4 / 4
Rare Variants / Common Variants
12 / 0
Aliases
MUC12, MUC-11,  MUC-12,  MUC11
Associated Syndromes
-
Chromosome Band
7q22.1
Associated Disorders
-
Relevance to Autism

A de novo nonsense variant in the MUC12 gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014. Six non-synonymous postzygotic mosaic mutations (PZMs) in this gene were identified in ASD probands in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (6/571 observed vs. 233/84,448 expected; hypergeometric P-value of 5.3E-03).

Molecular Function

This gene encodes an integral membrane glycoprotein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces and have been implicated in epithelial renewal and differentiation. These glycoproteins also play a role in intracellular signaling.

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to MUC12 (4 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Synaptic, transcriptional and chromatin genes disrupted in autism De Rubeis S , et al. (2014) Yes -
2 Recent Recommendation Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder Lim ET , et al. (2017) Yes -
3 Support - Tuncay IO et al. (2022) Yes -
4 Support - Cirnigliaro M et al. (2023) Yes -
Rare Variants   (12)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.2296G>T p.Glu766Ter stop_gained De novo - - 25363760 De Rubeis S , et al. (2014)
c.9547T>G p.Ser3183Ala missense_variant De novo - Simplex 28714951 Lim ET , et al. (2017)
c.9874T>G p.Leu3292Val missense_variant De novo - Simplex 28714951 Lim ET , et al. (2017)
c.11900C>T p.Thr3967Ile missense_variant De novo - Simplex 28714951 Lim ET , et al. (2017)
c.11947A>C p.Ser3983Arg missense_variant De novo - Simplex 28714951 Lim ET , et al. (2017)
c.12019C>A p.Leu4007Met missense_variant De novo - Simplex 28714951 Lim ET , et al. (2017)
c.13043C>G p.Ala4348Gly missense_variant De novo - Simplex 28714951 Lim ET , et al. (2017)
c.11991C>T p.His3997= synonymous_variant De novo - Simplex 28714951 Lim ET , et al. (2017)
c.1580G>A p.Arg527Gln missense_variant Familial Maternal Simplex 35190550 Tuncay IO et al. (2022)
c.4787C>T p.Thr1596Ile missense_variant Familial Maternal Simplex 35190550 Tuncay IO et al. (2022)
c.15632G>A p.Arg5211His missense_variant Familial Paternal Simplex 35190550 Tuncay IO et al. (2022)
c.14992C>T p.Gln4998Ter stop_gained Familial Maternal Multiplex 37506195 Cirnigliaro M et al. (2023)
Common Variants  

No common variants reported.

SFARI Gene score
2

Strong Candidate

A de novo nonsense variant in the MUC12 gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014. Six non-synonymous postzygotic mosaic mutations (PZMs) in this gene were identified in ASD probands in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (6/571 observed vs. 233/84,448 expected; hypergeometric P-value of 5.3E-03).

Score Delta: Score remained at 2

criteria met
See SFARI Gene'scoring criteria
2

Strong Candidate

See all Category 2 Genes

We 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
3
icon
2

Decreased from 3 to 2

Description

A de novo nonsense variant in the MUC12 gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014. Six non-synonymous postzygotic mosaic mutations (PZMs) in this gene were identified in ASD probands in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (6/571 observed vs. 233/84,448 expected; hypergeometric P-value of 5.3E-03).

10/1/2019
4
icon
3

Decreased from 4 to 3

New Scoring Scheme
Description

A de novo nonsense variant in the MUC12 gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014. Six non-synonymous postzygotic mosaic mutations (PZMs) in this gene were identified in ASD probands in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (6/571 observed vs. 233/84,448 expected; hypergeometric P-value of 5.3E-03).

Reports Added
[New Scoring Scheme]
7/1/2017
icon
4

Increased from to 4

Description

A de novo nonsense variant in the MUC12 gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014. Six non-synonymous postzygotic mosaic mutations (PZMs) in this gene were identified in ASD probands in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (6/571 observed vs. 233/84,448 expected; hypergeometric P-value of 5.3E-03).

Krishnan Probability Score

Score 0.44728122810044

Ranking 13077/25841 scored genes


[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
Original Source
Sanders TADA Score

Score 0.94152817867146

Ranking 14966/18665 scored genes


[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Original Source
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