EPPK1epiplakin 1
Autism Reports / Total Reports
9 / 9Rare Variants / Common Variants
23 / 0Aliases
EPPK1, EPIPL, EPIPL1Associated Syndromes
-Chromosome Band
8q24.3Associated Disorders
-Relevance to Autism
Four non-synonymous postzygotic mosaic mutations (PZMs) in the 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 (4/571 observed vs. 58/84,448 expected; hypergeometric P-value of 6.6E-04).
Molecular Function
The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells.
External Links
SFARI Genomic Platforms
Reports related to EPPK1 (9 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 | Primary | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder | Lim ET , et al. (2017) | Yes | - |
3 | Support | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder | Krupp DR , et al. (2017) | Yes | - |
4 | Support | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
5 | Support | Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes | Feliciano P et al. (2019) | Yes | - |
6 | Support | - | Woodbury-Smith M et al. (2022) | Yes | - |
7 | Support | - | Zhou X et al. (2022) | Yes | - |
8 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
9 | Support | - | Ayyappan Anitha et al. (2024) | Yes | - |
Rare Variants (23)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.382G>A | p.Gly128Ser | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.4628C>T | p.Thr1543Met | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.6889C>T | p.Gln2297Ter | stop_gained | De novo | - | Simplex | 28714951 | Lim ET , et al. (2017) | |
c.5106C>T | p.Asp1702= | synonymous_variant | De novo | - | - | 31452935 | Feliciano P et al. (2019) | |
c.3712G>A | p.Val1238Met | missense_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
c.2126G>A | p.Gly709Asp | missense_variant | De novo | - | Simplex | 28714951 | Lim ET , et al. (2017) | |
c.6794C>T | p.Ala2265Val | missense_variant | De novo | - | Simplex | 28714951 | Lim ET , et al. (2017) | |
c.6985C>T | p.Leu2329Phe | missense_variant | De novo | - | Simplex | 28714951 | Lim ET , et al. (2017) | |
c.6825C>T | p.Pro2275= | synonymous_variant | De novo | - | Simplex | 28714951 | Lim ET , et al. (2017) | |
c.6906G>C | p.Ser2302= | synonymous_variant | De novo | - | Simplex | 28714951 | Lim ET , et al. (2017) | |
c.5869G>A | p.Val1957Met | missense_variant | De novo | - | Multiplex | 35982159 | Zhou X et al. (2022) | |
c.3G>A | p.Met1? | initiator_codon_variant | Unknown | - | - | 35205252 | Woodbury-Smith M et al. (2022) | |
c.6194A>G | p.Tyr2065Cys | missense_variant | Unknown | - | - | 35205252 | Woodbury-Smith M et al. (2022) | |
c.7008C>T | p.Ile2336= | synonymous_variant | Familial | - | Simplex | 28867142 | Krupp DR , et al. (2017) | |
c.6807C>T | p.Thr2269= | synonymous_variant | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
c.6915C>T | p.Arg2305%3D | synonymous_variant | De novo | - | - | 35205252 | Woodbury-Smith M et al. (2022) | |
c.907C>T | p.Gln303Ter | stop_gained | Familial | Maternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) | |
c.2698C>T | p.Gln900Ter | stop_gained | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.6608_6609insC | p.Arg2204ThrfsTer439 | frameshift_variant | De novo | - | Multiplex | 35982159 | Zhou X et al. (2022) | |
c.6044dup | p.Val2016CysfsTer82 | frameshift_variant | Familial | Maternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) | |
c.5035C>T | p.Arg1679Cys | missense_variant | Unknown | - | Multiplex (monozygotic twins) | 39038432 | Ayyappan Anitha et al. (2024) | |
c.5590G>A | p.Val1864Ile | missense_variant | Unknown | - | Multiplex (monozygotic twins) | 39038432 | Ayyappan Anitha et al. (2024) | |
c.6507_6508insCGCAGCTCATCTTAGAGTTGATCGAGAAGCAGGAAACCAGCAAC | p.Lys2170ArgfsTer5 | stop_gained | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate


Four non-synonymous postzygotic mosaic mutations (PZMs) in the 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 (4/571 observed vs. 58/84,448 expected; hypergeometric P-value of 6.6E-04).
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
Four non-synonymous postzygotic mosaic mutations (PZMs) in the 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 (4/571 observed vs. 58/84,448 expected; hypergeometric P-value of 6.6E-04).
10/1/2019

Decreased from 4 to 3
New Scoring Scheme
Description
Four non-synonymous postzygotic mosaic mutations (PZMs) in the 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 (4/571 observed vs. 58/84,448 expected; hypergeometric P-value of 6.6E-04).
7/1/2019

Decreased from 4 to 4
Description
Four non-synonymous postzygotic mosaic mutations (PZMs) in the 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 (4/571 observed vs. 58/84,448 expected; hypergeometric P-value of 6.6E-04).
7/1/2017

Increased from to 4
Description
Four non-synonymous postzygotic mosaic mutations (PZMs) in the 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 (4/571 observed vs. 58/84,448 expected; hypergeometric P-value of 6.6E-04).
Krishnan Probability Score
Score 0.40537262621224
Ranking 23182/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 4.9528734152936E-21
Ranking 18011/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.9505492444669
Ranking 18536/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.1844561281398
Ranking 15068/20870 scored genes
[Show Scoring Methodology]