AutismKB 2.0

Evidence Details for DMXL2


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Basic Information Top
Gene Symbol:DMXL2 ( FLJ26672,KIAA0856,RC3 )
Gene Full Name: Dmx-like 2
Band: 15q21.2
Quick LinksEntrez ID:23312; OMIM: 612186; Uniprot ID:DMXL2_HUMAN; ENSEMBL ID: ENSG00000104093; HGNC ID: 2938
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DMXL2|23312|nucleotide
ATGCATCTGCATCAGGTCCTCACCGGAGCTGTCAACCCTGGAGACAACTGCTACTCCGTGGGCAGCGTCGGGGATGTCCCCTTCACGGCATATGGATCAGGCTGT
GATATTGTTATTTTGGCAAATGACTTTGAATGTGTACAGATCATTCCTGGTGCTAAGCATGGAAACATCCAAGTCAGCTGTGTGGAGTGTTCTAACCAACAAGGA
AGAATTGCAGCTTCATATGGTAATGCTGTTTGTATATTTGAGCCCTTGGGCATAAATTCTCATAAAAGAAATTGTCAACTCAAGTGCCAGTGGCTTAAAACTGGG
CAGTTTTTTTTGAGTTCTGTGACATACAACTTAGCATGGGATCCTCAAGATAATAGATTGTTGACAGCAACTGATTCTATTCAGTTGTGGGCTCCTCCAGGAGAT
GATATTCTGGAAGAGGAGGAAGAAATTGATAATACAGTTCCTCCTGTTTTAAATGATTGGAAGTGTGTCTGGCAGTGCAAAACCTCAGTATCTGTACATTTGATG
GAATGGTCTCCTGATGGTGAATATTTTGCTACTGCTGGAAAGGATGATTGTCTTTTGAAAGTGTGGTATCCTATGACTGGTTGGAAGTCTTCAATTATACCTCAG
GATCATCATGAAGTAAAAAGGAGACAGTCCTCTACTCAATTTTCTTTTGTTTACTTGGCACATCCCCGAGCTGTGACAGGTTTTTCGTGGCGCAAAACTAGCAAG
TATATGCCCAGGGGTTCTGTCTGTAATGTGTTGTTAACTTCATGTCATGATGGTGTGTGCCGGCTCTGGGCAGAAACTTTATTACCAGAAGACTGTCTTTTGGGT
GAGCAGATTTGTGAGACTACCACTTCCAGCATTGCCAGCAGCCTTTCTCATGCTGGAAGACACAAAGACAGAATACAGCATGCTCTTGAGACAATACACCATTTG
AAAAATTTAAGGAAAGGACAGAGGAGGTCATCTGTTCTTGTAACTCATGCTGAATTAATGCCCGACCAGACAGCAATGCATGAAGTTCAAAGACACATTTCCCAC
CATGCAAATGCACTCTGTCATTTTCATATTGCAGCAAGCATCAACCCTGCCACAGATATTCCAAATGTCTTGGTTGGCACTGCATTTAATGTTGATGATGGAAAT
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>DMXL2|23312|protein
MHLHQVLTGAVNPGDNCYSVGSVGDVPFTAYGSGCDIVILANDFECVQIIPGAKHGNIQVSCVECSNQQGRIAASYGNAVCIFEPLGINSHKRNCQLKCQWLKTG
QFFLSSVTYNLAWDPQDNRLLTATDSIQLWAPPGDDILEEEEEIDNTVPPVLNDWKCVWQCKTSVSVHLMEWSPDGEYFATAGKDDCLLKVWYPMTGWKSSIIPQ
DHHEVKRRQSSTQFSFVYLAHPRAVTGFSWRKTSKYMPRGSVCNVLLTSCHDGVCRLWAETLLPEDCLLGEQICETTTSSIASSLSHAGRHKDRIQHALETIHHL
KNLRKGQRRSSVLVTHAELMPDQTAMHEVQRHISHHANALCHFHIAASINPATDIPNVLVGTAFNVDDGNGGFVVHWLNNKEFHFTSSTEVFMHQLRKLSDKQVD
HENDDADREDEEHSQEDRERGLHMKLDHDLSLDRESEAGTGSSEHEDGEREGSPRTYSRLSVPMPLPTVLLDRKIETLLTEWNKNPDMLFTIHPVDGTFLVWHVK
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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) 0 (1) 1 (1) 0 (0) 0 (0) 0 (2) 0 (1) 0 (0) 0 (0) 2 (5)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top