AutismKB 2.0

Evidence Details for EHMT2


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Basic Information Top
Gene Symbol:EHMT2 ( BAT8,C6orf30,DKFZp686H08213,FLJ35547,G9A,KMT1C,NG36 )
Gene Full Name: euchromatic histone-lysine N-methyltransferase 2
Band: 6p21.33
Quick LinksEntrez ID:10919; OMIM: 604599; Uniprot ID:EHMT2_HUMAN; ENSEMBL ID: ENSG00000204371; HGNC ID: 14129
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EHMT2|10919|nucleotide
ATGGCGGCGGCGGCGGGAGCTGCAGCGGCGGCGGCCGCCGAGGGGGAGGCCCCCGCTGAGATGGGGGCGCTGCTGCTGGAGAAGGAAACCAGAGGAGCCACCGAG
AGAGTTCATGGCTCTTTGGGGGACACCCCTCGTAGTGAAGAAACCCTGCCCAAGGCCACCCCCGACTCCCTGGAGCCTGCTGGCCCCTCATCTCCAGCCTCTGTC
ACTGTCACTGTTGGTGATGAGGGGGCTGACACCCCTGTAGGGGCTACACCACTCATTGGGGATGAATCTGAGAATCTTGAGGGAGATGGGGACCTCCGTGGGGGC
CGGATCCTGCTGGGCCATGCCACAAAGTCATTCCCCTCTTCCCCCAGCAAGGGGGGTTCCTGTCCTAGCCGGGCCAAGATGTCAATGACAGGGGCGGGAAAATCA
CCTCCATCTGTCCAGAGTTTGGCTATGAGGCTACTGAGTATGCCAGGAGCCCAGGGAGCTGCAGCAGCAGGGTCTGAACCCCCTCCAGCCACCACGAGCCCAGAG
GGACAGCCCAAGGTCCACCGAGCCCGCAAAACCATGTCCAAACCAGGAAATGGACAGCCCCCGGTCCCTGAGAAGCGGCCCCCTGAAATACAGCATTTCCGCATG
AGTGATGATGTCCACTCACTGGGAAAGGTGACCTCAGATCTGGCCAAAAGGAGGAAGCTGAACTCAGGAGGTGGCCTGTCAGAGGAGTTAGGTTCTGCCCGGCGT
TCAGGAGAAGTGACCCTGACGAAAGGGGACCCCGGGTCCCTGGAGGAGTGGGAGACGGTGGTGGGTGATGACTTCAGTCTCTACTATGATTCCTACTCTGTGGAT
GAGCGCGTGGACTCCGACAGCAAGTCTGAAGTTGAAGCTCTAACTGAACAACTAAGTGAAGAGGAGGAGGAGGAAGAGGAGGAAGAAGAAGAAGAGGAAGAGGAG
GAGGAAGAGGAAGAAGAAGAGGAAGATGAGGAGTCAGGGAATCAGTCAGATAGGAGTGGTTCCAGTGGCCGGCGCAAGGCCAAGAAGAAATGGCGAAAAGACAGC
CCATGGGTGAAGCCGTCTCGGAAACGGCGCAAGCGGGAGCCTCCGCGGGCCAAGGAGCCACGAGGAGTGAATGGTGTGGGCTCCTCAGGCCCCAGTGAGTACATG
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>EHMT2|10919|protein
MAAAAGAAAAAAAEGEAPAEMGALLLEKETRGATERVHGSLGDTPRSEETLPKATPDSLEPAGPSSPASVTVTVGDEGADTPVGATPLIGDESENLEGDGDLRGG
RILLGHATKSFPSSPSKGGSCPSRAKMSMTGAGKSPPSVQSLAMRLLSMPGAQGAAAAGSEPPPATTSPEGQPKVHRARKTMSKPGNGQPPVPEKRPPEIQHFRM
SDDVHSLGKVTSDLAKRRKLNSGGGLSEELGSARRSGEVTLTKGDPGSLEEWETVVGDDFSLYYDSYSVDERVDSDSKSEVEALTEQLSEEEEEEEEEEEEEEEE
EEEEEEEEDEESGNQSDRSGSSGRRKAKKKWRKDSPWVKPSRKRRKREPPRAKEPRGVNGVGSSGPSEYMEVPLGSLELPSEGTLSPNHAGVSNDTSSLETERGF
EELPLCSCRMEAPKIDRISERAGHKCMATESVDGELSGCNAAILKRETMRPSSRVALMVLCETHRARMVKHHCCPGCGYFCTAGTFLECHPDFRVAHRFHKACVS
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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) No 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (3)
Syndromic Autism Gene Top
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top