KMT2ELysine (K)-specific methyltransferase 2E
Autism Reports / Total Reports
13 / 23Rare Variants / Common Variants
85 / 1Aliases
KMT2E, HDCMC04P, MLL5, NKp44LAssociated Syndromes
O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome, DD, epilepsy/seizu, O'Donnell-Luria-Rodan syndrome, DD, O'Donnell-Luria-Rodan syndrome, DD, ID, epilepsy/s, O'Donnell-Luria-Rodan syndrome, ASD, DD, IDChromosome Band
7q22.3Associated Disorders
ID, EPS, ASDRelevance to Autism
De novo frameshift variants in this gene have been identified in unrelated ASD cases from the Simons Simplex Collection (Iossifov et al., 2012; Dong et al., 2014).
Molecular Function
Histone methyltransferase that specifically mono- and dimethylates 'Lys-4' of histone H3 (H3K4me1 and H3K4me2). H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation.
External Links
SFARI Genomic Platforms
Reports related to KMT2E (23 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Support | De novo gene disruptions in children on the autistic spectrum | Iossifov I , et al. (2012) | Yes | - |
2 | Primary | De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder | Dong S , et al. (2014) | Yes | - |
3 | Support | De novo genic mutations among a Chinese autism spectrum disorder cohort | Wang T , et al. (2016) | Yes | - |
4 | Support | De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis | Wang S , et al. (2018) | No | - |
5 | Support | Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model | Guo H , et al. (2018) | Yes | - |
6 | Recent Recommendation | Identification of common genetic risk variants for autism spectrum disorder | Grove J , et al. (2019) | Yes | - |
7 | Recent Recommendation | Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy | O'Donnell-Luria AH , et al. (2019) | No | - |
8 | Support | Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes | Feliciano P et al. (2019) | Yes | - |
9 | Support | Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism | Satterstrom FK et al. (2020) | Yes | - |
10 | Support | ODLURO syndrome: personal experience and review of the literature | Conforti R et al. (2020) | No | ID, epilepsy/seizures |
11 | Support | Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders | Wang T et al. (2020) | Yes | - |
12 | Support | - | Li Y et al. (2021) | No | ASD, ID |
13 | Recent Recommendation | - | Velmans C et al. (2021) | No | ASD, ID |
14 | Support | - | Abreu NJ et al. (2022) | No | - |
15 | Support | - | Cao Z et al. (2022) | No | - |
16 | Support | - | CÃÆtanÃÆ A et al. (2022) | Yes | - |
17 | Support | - | Zhou X et al. (2022) | Yes | - |
18 | Support | - | Li YJ et al. (2023) | Yes | - |
19 | Support | - | Omri Bar et al. (2024) | Yes | OCD, ID, epilepsy/seizures |
20 | Support | - | Marketa Wayhelova et al. (2024) | Yes | - |
21 | Support | - | Mario Benvenuto et al. (2024) | No | - |
22 | Support | - | Alistair T Pagnamenta et al. (2024) | No | Autistic features |
23 | Support | - | Axel Schmidt et al. (2024) | No | - |
Rare Variants (85)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | copy_number_loss | De novo | - | - | 34321323 | Velmans C et al. (2021) | |
c.1722+10G>A | - | intron_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.72-3del | - | splice_site_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
- | - | copy_number_loss | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.1130+1G>T | - | splice_site_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
- | - | inversion | De novo | - | Simplex | 38776926 | Alistair T Pagnamenta et al. (2024) | |
c.4279C>T | p.Gln1427Ter | stop_gained | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2107G>T | p.Glu703Ter | stop_gained | De novo | - | - | 34321323 | Velmans C et al. (2021) | |
c.532C>T | p.Arg178Cys | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.3034C>T | p.Gln1012Ter | stop_gained | De novo | - | - | 34321323 | Velmans C et al. (2021) | |
c.4279C>T | p.Gln1427Ter | stop_gained | De novo | - | - | 34321323 | Velmans C et al. (2021) | |
c.1248+1G>T | - | splice_site_variant | De novo | - | Simplex | 35273928 | Cao Z et al. (2022) | |
c.1465C>T | p.Arg489Trp | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.1547C>T | p.Thr516Met | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.1994G>A | p.Arg665His | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2275C>T | p.Arg759Cys | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2276G>A | p.Arg759His | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.183_186+2del | - | splice_site_variant | De novo | - | - | 34321323 | Velmans C et al. (2021) | |
c.3430G>A | p.Gly1144Arg | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.3743C>T | p.Pro1248Leu | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.3827G>C | p.Arg1276Pro | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.4264C>T | p.Arg1422Cys | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
- | - | copy_number_loss | De novo | - | Simplex | 38776926 | Alistair T Pagnamenta et al. (2024) | |
c.264A>G | p.Glu88%3D | synonymous_variant | De novo | - | - | 34321323 | Velmans C et al. (2021) | |
c.186G>A | p.Ala62%3D | synonymous_variant | De novo | - | Simplex | 33681112 | Li Y et al. (2021) | |
c.2414A>G | p.Lys805Arg | missense_variant | De novo | - | - | 31452935 | Feliciano P et al. (2019) | |
c.2416G>A | p.Glu806Lys | missense_variant | De novo | - | - | 31452935 | Feliciano P et al. (2019) | |
c.5417C>T | p.Pro1806Leu | missense_variant | De novo | - | Simplex | 33681112 | Li Y et al. (2021) | |
c.556+1G>A | - | splice_site_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.1130+2T>C | - | splice_site_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.2116dup | p.Thr706AsnfsTer9 | frameshift_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.76_77dup | p.Ser27AsnfsTer3 | frameshift_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2452C>T | p.Arg818Ter | stop_gained | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.2620C>T | p.Arg874Ter | stop_gained | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.2866dup | p.Ser956LysfsTer11 | frameshift_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.3430G>A | p.Gly1144Arg | missense_variant | De novo | - | Unknown | 30257206 | Wang S , et al. (2018) | |
c.2848-2A>C | - | splice_site_variant | Unknown | Not maternal | - | 34321323 | Velmans C et al. (2021) | |
c.3070C>T | p.Gln1024Ter | stop_gained | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.3554C>G | p.Ser1185Ter | stop_gained | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.2051_2052dup | p.Glu685Ter | frameshift_variant | De novo | - | - | 34321323 | Velmans C et al. (2021) | |
c.2714dup | p.Met906TyrfsTer15 | frameshift_variant | De novo | - | - | 34321323 | Velmans C et al. (2021) | |
c.418G>A | p.Val140Ile | missense_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.850T>C | p.Tyr284His | missense_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.68_70delinsAAA | p.Ser23_Glu24delinsTer | stop_gained | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2941_2944del | p.Pro981LeufsTer6 | frameshift_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.498-11T>C | - | intron_variant | Familial | Paternal | Simplex | 35481221 | CÃÆtanÃÆ A et al. (2022) | |
c.2720A>T | p.Asp907Val | missense_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.4829dup | p.Leu1610PhefsTer259 | frameshift_variant | De novo | - | - | 34321323 | Velmans C et al. (2021) | |
c.5054dup | p.Pro1686SerfsTer183 | frameshift_variant | De novo | - | - | 34321323 | Velmans C et al. (2021) | |
c.768+1G>A | - | splice_site_variant | Familial | Paternal | Multiplex | 34321323 | Velmans C et al. (2021) | |
c.186G>A | p.Ala62= | synonymous_variant | De novo | - | Simplex | 38674365 | Mario Benvenuto et al. (2024) | |
c.4126C>T | p.Pro1376Ser | missense_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.3527_3530del | p.Thr1176ArgfsTer16 | frameshift_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.167del | p.Tyr56SerfsTer34 | frameshift_variant | De novo | - | Simplex | 25284784 | Dong S , et al. (2014) | |
c.2261del | p.Ser754Ter | frameshift_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.1646_1650del | p.Ile549ArgfsTer6 | frameshift_variant | De novo | - | - | 34321323 | Velmans C et al. (2021) | |
c.3269C>T | p.Ser1090Leu | missense_variant | Familial | Maternal | Simplex | 30564305 | Guo H , et al. (2018) | |
c.2164_2167del | p.Lys722ValfsTer17 | frameshift_variant | De novo | - | - | 34321323 | Velmans C et al. (2021) | |
c.65del | p.Gly22ValfsTer7 | frameshift_variant | Unknown | Not maternal | - | 34321323 | Velmans C et al. (2021) | |
c.280del | p.Thr94LeufsTer25 | frameshift_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.3198del | p.Trp1067GlyfsTer2 | frameshift_variant | De novo | - | Simplex | 22542183 | Iossifov I , et al. (2012) | |
c.997del | p.Glu333ArgfsTer32 | frameshift_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.2936del | p.Leu979TrpfsTer9 | frameshift_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.3672_3673del | p.Tyr1224Ter | frameshift_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.1603del | p.Leu535TyrfsTer15 | frameshift_variant | Unknown | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.1812del | p.Ile605SerfsTer41 | frameshift_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.4829dup | p.Leu1610PhefsTer259 | frameshift_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.4872dup | p.Val1625ArgfsTer244 | frameshift_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.3527_3530del | p.Thr1176ArgfsTer16 | frameshift_variant | Familial | Maternal | - | 27824329 | Wang T , et al. (2016) | |
c.1099_1103dup | p.Glu369SerfsTer25 | frameshift_variant | Familial | Paternal | - | 34321323 | Velmans C et al. (2021) | |
c.2602_2605del | p.Thr868HisfsTer3 | frameshift_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.1773_1777del | p.Lys593ArgfsTer17 | frameshift_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.1776_1780del | p.Lys593ArgfsTer17 | frameshift_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.3494_3495del | p.Arg1165ThrfsTer3 | frameshift_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.2334_2337del | p.Tyr779AlafsTer41 | frameshift_variant | Unknown | Not maternal | - | 35169466 | Abreu NJ et al. (2022) | |
c.4485_4486del | p.Gln1496LysfsTer39 | frameshift_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.549del | p.Asn183LysfsTer33 | frameshift_variant | Familial | Paternal | Multiplex | 32691224 | Conforti R et al. (2020) | |
c.4743_4744del | p.Phe1582TyrfsTer286 | frameshift_variant | De novo | - | Multiplex | 39039281 | Axel Schmidt et al. (2024) | |
c.2077_2093del | p.Ile693TyrfsTer7 | frameshift_variant | De novo | - | Simplex | 38321498 | Marketa Wayhelova et al. (2024) | |
c.1239del | p.Asn414MetfsTer4 | frameshift_variant | Unknown | Not maternal | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.3198_3234del | p.Trp1067GlnfsTer2 | frameshift_variant | Unknown | Not maternal | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.5453_5460del | p.Val1818AlafsTer48 | frameshift_variant | Unknown | Not maternal | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.450dup | p.Arg151Ter | frameshift_variant | Unknown | Not maternal | Multi-generational | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.4397_4398insCACAGCATGGTTATCTTTC | p.Pro1467ThrfsTer75 | frameshift_variant | De novo | - | - | 31079897 | O'Donnell-Luria AH , et al. (2019) | |
c.3337_3341delinsGTTTATGGAAA | p.Arg1113_Gly1114delinsValTyrGlyAsn | inframe_indel | Familial | Maternal | Multiplex | 38256266 | Omri Bar et al. (2024) |
Common Variants (1)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.2196+1578A>G | - | intron_variant | - | - | - | 30804558 | Grove J , et al. (2019) |
SFARI Gene score
High Confidence, Syndromic
Score Delta: Score remained at 1S
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.
The syndromic category includes mutations that are associated with a substantial degree of increased risk and consistently linked to additional characteristics not required for an ASD diagnosis. If there is independent evidence implicating a gene in idiopathic ASD, it will be listed as "#S" (e.g., 2S, 3S, etc.). If there is no such independent evidence, the gene will be listed simply as "S."
4/1/2022
Decreased from 2S to 1
1/1/2021
Decreased from 2S to 2S
Description
De novo loss-of-function frameshift variants in the KMT2E gene have been identified in two unrelated ASD cases from the Simons Simplex Collection (PMIDs 22542183, 25284784); no similar indels were observed in controls. A maternally-inherited frameshift variant in this gene was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016. An intronic polymorphism in the KMT2E gene (rs111931861) that was determined by Hi-C analysis to be a loss-of-function variant was found to be the index variant for a genome-wide significant locus (P = 3.53E-08) identified in a combined analysis of 18,381 ASD cases and 27,969 controls from iPSYCH and the Psychiatric Genomic Consortium (PGC) and five cohorts of European ancestry including a total of 2,119 additional ASD cases and 142,379 controls (Grove et al., 2019). A study including 31 distinct heterozygous variants in the KMT2E gene (28 ascertained from Matchmaker Exchange and three previously reported in ASD probands from the Simons Simplex Collection and the Autism Clinical and Genetic Resources in China cohort) and four individuals with microdeletions encompassing KMT2E identified a neurodevelopmental disorder characterized by developmental delay, intellectual disability, epilepsy, hypotonia, and either microcephaly or macrocephaly; a quarter of the 38 individuals in this cohort met criteria for autism spectrum disorder (ODonnell-Luria et al., 2019).
10/1/2020
Decreased from 2S to 2S
Description
De novo loss-of-function frameshift variants in the KMT2E gene have been identified in two unrelated ASD cases from the Simons Simplex Collection (PMIDs 22542183, 25284784); no similar indels were observed in controls. A maternally-inherited frameshift variant in this gene was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016. An intronic polymorphism in the KMT2E gene (rs111931861) that was determined by Hi-C analysis to be a loss-of-function variant was found to be the index variant for a genome-wide significant locus (P = 3.53E-08) identified in a combined analysis of 18,381 ASD cases and 27,969 controls from iPSYCH and the Psychiatric Genomic Consortium (PGC) and five cohorts of European ancestry including a total of 2,119 additional ASD cases and 142,379 controls (Grove et al., 2019). A study including 31 distinct heterozygous variants in the KMT2E gene (28 ascertained from Matchmaker Exchange and three previously reported in ASD probands from the Simons Simplex Collection and the Autism Clinical and Genetic Resources in China cohort) and four individuals with microdeletions encompassing KMT2E identified a neurodevelopmental disorder characterized by developmental delay, intellectual disability, epilepsy, hypotonia, and either microcephaly or macrocephaly; a quarter of the 38 individuals in this cohort met criteria for autism spectrum disorder (ODonnell-Luria et al., 2019).
7/1/2020
Decreased from 2S to 2S
Description
De novo loss-of-function frameshift variants in the KMT2E gene have been identified in two unrelated ASD cases from the Simons Simplex Collection (PMIDs 22542183, 25284784); no similar indels were observed in controls. A maternally-inherited frameshift variant in this gene was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016. An intronic polymorphism in the KMT2E gene (rs111931861) that was determined by Hi-C analysis to be a loss-of-function variant was found to be the index variant for a genome-wide significant locus (P = 3.53E-08) identified in a combined analysis of 18,381 ASD cases and 27,969 controls from iPSYCH and the Psychiatric Genomic Consortium (PGC) and five cohorts of European ancestry including a total of 2,119 additional ASD cases and 142,379 controls (Grove et al., 2019). A study including 31 distinct heterozygous variants in the KMT2E gene (28 ascertained from Matchmaker Exchange and three previously reported in ASD probands from the Simons Simplex Collection and the Autism Clinical and Genetic Resources in China cohort) and four individuals with microdeletions encompassing KMT2E identified a neurodevelopmental disorder characterized by developmental delay, intellectual disability, epilepsy, hypotonia, and either microcephaly or macrocephaly; a quarter of the 38 individuals in this cohort met criteria for autism spectrum disorder (ODonnell-Luria et al., 2019).
1/1/2020
Decreased from 2S to 2S
Description
De novo loss-of-function frameshift variants in the KMT2E gene have been identified in two unrelated ASD cases from the Simons Simplex Collection (PMIDs 22542183, 25284784); no similar indels were observed in controls. A maternally-inherited frameshift variant in this gene was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016. An intronic polymorphism in the KMT2E gene (rs111931861) that was determined by Hi-C analysis to be a loss-of-function variant was found to be the index variant for a genome-wide significant locus (P = 3.53E-08) identified in a combined analysis of 18,381 ASD cases and 27,969 controls from iPSYCH and the Psychiatric Genomic Consortium (PGC) and five cohorts of European ancestry including a total of 2,119 additional ASD cases and 142,379 controls (Grove et al., 2019). A study including 31 distinct heterozygous variants in the KMT2E gene (28 ascertained from Matchmaker Exchange and three previously reported in ASD probands from the Simons Simplex Collection and the Autism Clinical and Genetic Resources in China cohort) and four individuals with microdeletions encompassing KMT2E identified a neurodevelopmental disorder characterized by developmental delay, intellectual disability, epilepsy, hypotonia, and either microcephaly or macrocephaly; a quarter of the 38 individuals in this cohort met criteria for autism spectrum disorder (ODonnell-Luria et al., 2019).
10/1/2019
Decreased from 3S to 2S
New Scoring Scheme
Description
De novo loss-of-function frameshift variants in the KMT2E gene have been identified in two unrelated ASD cases from the Simons Simplex Collection (PMIDs 22542183, 25284784); no similar indels were observed in controls. A maternally-inherited frameshift variant in this gene was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016. An intronic polymorphism in the KMT2E gene (rs111931861) that was determined by Hi-C analysis to be a loss-of-function variant was found to be the index variant for a genome-wide significant locus (P = 3.53E-08) identified in a combined analysis of 18,381 ASD cases and 27,969 controls from iPSYCH and the Psychiatric Genomic Consortium (PGC) and five cohorts of European ancestry including a total of 2,119 additional ASD cases and 142,379 controls (Grove et al., 2019). A study including 31 distinct heterozygous variants in the KMT2E gene (28 ascertained from Matchmaker Exchange and three previously reported in ASD probands from the Simons Simplex Collection and the Autism Clinical and Genetic Resources in China cohort) and four individuals with microdeletions encompassing KMT2E identified a neurodevelopmental disorder characterized by developmental delay, intellectual disability, epilepsy, hypotonia, and either microcephaly or macrocephaly; a quarter of the 38 individuals in this cohort met criteria for autism spectrum disorder (ODonnell-Luria et al., 2019).
4/1/2019
Decreased from 3 to 3
Description
De novo loss-of-function frameshift variants in the KMT2E gene have been identified in two unrelated ASD cases from the Simons Simplex Collection (PMIDs 22542183, 25284784); no similar indels were observed in controls. An intronic polymorphism in the KMT2E gene (rs111931861) that was determined by Hi-C analysis to be a loss-of-function variant was found to be the index variant for a genome-wide significant locus (P = 3.53E-08) identified in a combined analysis of 18,381 ASD cases and 27,969 controls from iPSYCH and the Psychiatric Genomic Consortium (PGC) and five cohorts of European ancestry including a total of 2,119 additional ASD cases and 142,379 controls (Grove et al., 2019).
1/1/2019
Decreased from 3 to 3
Description
De novo loss-of-function frameshift variants in the KMT2E gene have been identified in two unrelated ASD cases from the Simons Simplex Collection (PMIDs 22542183, 25284784); no similar indels were observed in controls. An intronic polymorphism in the KMT2E gene (rs111931861) that was determined by Hi-C analysis to be a loss-of-function variant was found to be the index variant for a genome-wide significant locus (P = 3.53E-08) identified in a combined analysis of 18,381 ASD cases and 27,969 controls from iPSYCH and the Psychiatric Genomic Consortium (PGC) and five cohorts of European ancestry including a total of 2,119 additional ASD cases and 142,379 controls (Grove et al., 2019).
10/1/2018
Decreased from 3 to 3
Description
De novo loss-of-function frameshift variants in the KMT2E gene have been identified in two unrelated ASD cases from the Simons Simplex Collection (PMIDs 22542183, 25284784); no similar indels were observed in controls.
10/1/2016
Decreased from 3 to 3
Description
De novo loss-of-function frameshift variants in the KMT2E gene have been identified in two unrelated ASD cases from the Simons Simplex Collection (PMIDs 22542183, 25284784); no similar indels were observed in controls.
10/1/2014
Increased from to 3
Description
De novo loss-of-function frameshift variants in the KMT2E gene have been identified in two unrelated ASD cases from the Simons Simplex Collection (PMIDs 22542183, 25284784); no similar indels were observed in controls.
Krishnan Probability Score
Score 0.49276089427939
Ranking 4417/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.99999999470269
Ranking 125/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.055167939906483
Ranking 48/18665 scored genes
[Show Scoring Methodology]
Larsen Cumulative Evidence Score
Score 22
Ranking 92/461 scored genes
[Show Scoring Methodology]
Interactome
- Protein Binding
- DNA Binding
- RNA Binding
- Protein Modification
- Direct Regulation
- ASD-Linked Genes
Interaction Table
Interactor Symbol | Interactor Name | Interactor Organism | Interactor Type | Entrez ID | Uniprot ID |
---|---|---|---|---|---|
CDK11B | cyclin-dependent kinase 11B | Human | Protein Binding | 984 | P21127 |