Human Gene Module / Chromosome 7 / KMT2E

KMT2ELysine (K)-specific methyltransferase 2E

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
3 / 3
Rare Variants / Common Variants
3 / 0
Aliases
KMT2E, HDCMC04P,  MLL5,  NKp44L
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
7q22.3
Associated Disorders
-
Relevance 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.

Reports related to KMT2E (3 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 -
Rare Variants   (3)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.3197delC p.Ser1066fs frameshift_variant De novo - Simplex 22542183 Iossifov I , et al. (2012)
c.167delA p.Tyr56fs frameshift_variant De novo - Simplex 25284784 Dong S , et al. (2014)
c.3527_3530del p.Thr1176ArgfsTer16 frameshift_variant Familial Maternal - 27824329 Wang T , et al. (2016)
Common Variants  

No common variants reported.

SFARI Gene score
3

Suggestive Evidence

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.

3

Suggestive Evidence

See all Category 3 Genes

The 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.

04-01-2017
3

Initial score established: 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.

CNVs associated with KMT2E(1 CNVs)
7q22.3 8 Deletion 16  /  12
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
CDK11B cyclin-dependent kinase 11B Human Protein Binding 984 P21127
Submit New Gene

Report an Error