AutismKB 2.0

Evidence Details for EHMT1


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Basic Information Top
Gene Symbol:EHMT1 ( DEL9q34,DKFZp667M072,EUHMTASE1,Eu-HMTase1,FLJ12879,FP13812,GLP,KIAA1876,KMT1D,bA188C12.1 )
Gene Full Name: euchromatic histone-lysine N-methyltransferase 1
Band: 9q34.3
Quick LinksEntrez ID:79813; OMIM: 607001; Uniprot ID:EHMT1_HUMAN; ENSEMBL ID: ENSG00000181090; HGNC ID: 24650
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EHMT1|79813|nucleotide
ATGGCCGCCGCCGATGCCGAGGCAGTTCCGGCGAGGGGGGAGCCTCAGCAGGATTGCTGTGTGAAAACCGAGCTGCTGGGAGAAGAGACACCTATGGCTGCCGAT
GAAGGCTCAGCAGAGAAACAGGCAGGAGAGGCCCACATGGCTGCGGACGGTGAGACCAATGGGTCTTGTGAAAACAGCGATGCCAGCAGTCATGCAAATGCTGCA
AAGCACACTCAGGACAGCGCAAGGGTCAACCCCCAGGATGGCACCAACACACTAACTCGGATAGCGGAAAATGGGGTTTCAGAAAGAGACTCAGAAGCGGCGAAG
CAAAACCACGTCACTGCCGACGACTTTGTGCAGACTTCTGTCATCGGCAGCAACGGATACATCTTAAATAAGCCGGCCCTACAGGCACAGCCCTTGAGGACTACC
AGCACTCTGGCCTCTTCGCTGCCTGGCCATGCTGCAAAAACCCTTCCTGGAGGGGCTGGCAAAGGCAGGACTCCAAGCGCTTTTCCCCAGACGCCAGCCGCCCCA
CCAGCCACCCTTGGGGAGGGGAGTGCTGACACAGAGGACAGGAAGCTCCCGGCCCCTGGCGCCGACGTCAAGGTCCACAGGGCACGCAAGACCATGCCGAAGTCC
GTCGTGGGCCTGCATGCAGCCAGTAAAGATCCCAGAGAAGTTCGAGAAGCTAGAGATCATAAGGAACCAAAAGAGGAGATCAACAAAAACATTTCTGACTTTGGA
CGACAGCAGCTTTTACCCCCCTTCCCATCCCTTCATCAGTCGCTACCTCAGAACCAGTGCTACATGGCCACCACAAAATCACAGACAGCTTGCTTGCCTTTTGTT
TTAGCAGCTGCAGTATCTCGGAAGAAAAAACGAAGAATGGGAACCTATAGCCTGGTTCCTAAGAAAAAGACCAAAGTATTAAAACAGAGGACGGTGATTGAGATG
TTTAAGAGCATAACTCATTCCACTGTGGGTTCCAAGGGGGAGAAGGACCTGGGCGCCAGCAGCCTGCACGTGAATGGGGAGAGCCTGGAGATGGACTCGGATGAG
GACGACTCAGAGGAGCTCGAGGAGGACGACGGCCATGGTGCAGAGCAGGCGGCCGCGTTCCCCACAGAGGACAGCAGGACTTCCAAGGAGAGCATGTCGGAGGCT
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>EHMT1|79813|protein
MAAADAEAVPARGEPQQDCCVKTELLGEETPMAADEGSAEKQAGEAHMAADGETNGSCENSDASSHANAAKHTQDSARVNPQDGTNTLTRIAENGVSERDSEAAK
QNHVTADDFVQTSVIGSNGYILNKPALQAQPLRTTSTLASSLPGHAAKTLPGGAGKGRTPSAFPQTPAAPPATLGEGSADTEDRKLPAPGADVKVHRARKTMPKS
VVGLHAASKDPREVREARDHKEPKEEINKNISDFGRQQLLPPFPSLHQSLPQNQCYMATTKSQTACLPFVLAAAVSRKKKRRMGTYSLVPKKKTKVLKQRTVIEM
FKSITHSTVGSKGEKDLGASSLHVNGESLEMDSDEDDSEELEEDDGHGAEQAAAFPTEDSRTSKESMSEADRAQKMDGESEEEQESVDTGEEEEGGDESDLSSES
SIKKKFLKRKGKTDSPWIKPARKRRRRSRKKPSGALGSESYKSSAGSAEQTAPGDSTGYMEVSLDSLDLRVKGILSSQAEGLANGPDVLETDGLQEVPLCSCRME
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) Yes 0 (0) 0 (3) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 1 (1) 12 (8)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMKleefstra syndrome (610253)
DescriptionEHMT1 is responsible for the core phenotype of the 9q subtelomeric deletion syndrome (Kleefstra syndrome). 23% (5/22) of subjects with Kleefstra syndrome due to deletions or mutations have ASD/autistic features
Reference(s)11840483; 12515261; 15054842; 15805155; 19264732; -;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top