AutismKB 2.0

Evidence Details for DMXL1


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Basic Information Top
Gene Symbol:DMXL1 ( DKFZp779O1239,FLJ44772 )
Gene Full Name: Dmx-like 1
Band: 5q23.1
Quick LinksEntrez ID:1657; OMIM: 605671; Uniprot ID:DMXL1_HUMAN; ENSEMBL ID: ENSG00000172869; HGNC ID: 2937
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DMXL1|1657|nucleotide
ATGAACCTGCACCAGGTGCTGACCGGGGCTGTGAACCCTGGCGACCACTGCTTCTCCGTGGGCAGCATTGGCGACCAGCGCTTCACGGCTTATGCATCTGGATGT
GACATTGTAATACTGGGAAGCGATTTTGAAAGATTACAGATAATCCCAGGAGCTAAACATGGAAATATTCAAGTGGGATGTGTAGACTGTTCAATGCAACAAGGC
AAGATTGCAGCGTCTTATGGAAATGTTATCTCCATTTTTGAACCAGTTAACCTACCAAAACAAAAGAAAAATTTGGAATTATATAGTCAGTGGCAGAAAAGTGGC
CAATTTTTTCTGGAATCAATAGCACACAATATAACCTGGGATCCCACAGGCAGTCGTCTTTTAACTGGTTCCAGCTATTTGCAACTCTGGTCCAATACTAACTTG
GAGAAGCCAACTGAAGATGAAAATTTAAATAAAACAGATCTTAACTTTGGAGATTGGAAATGCATTTGGCATTGCAAAACTGCTTCCCAAGTTCATTTAATGAAA
TTTTCACCAGATGGAGAATTTTTTGCCACTGCTGGGAAGGATGACTGTCTTTTGAAGGTTTGGTATAATGTAGAAAACTGGCGGACAGCTGTTACTTCTCCAGAT
GGAAGTTCAGAAAAACAATCCCAAGGAGAAATTGACTTTTCTTTTGTGTATCTGGCCCATCCTCGAGCAGTAAATGGATTTTCCTGGCGTAAAACAAGCAAATAT
ATGCCTAGGGCTTCTGTATGTAATGTACTGTTGACTTGCTGCAAAGATAATGTGTGTCGTCTTTGGGTAGAGACATTTTTACCAAATGATTGTTTGCTATACGGA
GGTGACTGCAGCCATTGGACTGAATCAATTAATTTAACAAATAACTTCAAGAGAAATGCTTCCAGTAAAGAACGAGTTCAAAATGCTTTAGAAGTAAATCTGAGA
CATTTTCGTAGAGGTCGGAGGAGATCACTTGCTCTTGTAGCACATACGGGATATCTACCACATCAGCAGGATCCTCATCATGTTCACAGGAACACTCCACTGCAT
GCCAATGCACTTTGCCACTTTCATATTGCAGCCAGCATCAACCCAGCCACAGACATTCCACTTCTTCCATCTATTACATCTCTGAGTCTAAATGAAAATGAAGAG
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>DMXL1|1657|protein
MNLHQVLTGAVNPGDHCFSVGSIGDQRFTAYASGCDIVILGSDFERLQIIPGAKHGNIQVGCVDCSMQQGKIAASYGNVISIFEPVNLPKQKKNLELYSQWQKSG
QFFLESIAHNITWDPTGSRLLTGSSYLQLWSNTNLEKPTEDENLNKTDLNFGDWKCIWHCKTASQVHLMKFSPDGEFFATAGKDDCLLKVWYNVENWRTAVTSPD
GSSEKQSQGEIDFSFVYLAHPRAVNGFSWRKTSKYMPRASVCNVLLTCCKDNVCRLWVETFLPNDCLLYGGDCSHWTESINLTNNFKRNASSKERVQNALEVNLR
HFRRGRRRSLALVAHTGYLPHQQDPHHVHRNTPLHANALCHFHIAASINPATDIPLLPSITSLSLNENEEKTGPFVVHWLNNKELHFTLSMEVFLQQLRKSFEQP
SSEASVEDSNQADVKSDEETDDGVDDLKINPEKKELGCDKMVPNSSFTSLSSAAIDHQIEVLLSEWSKNADMLFSIHPMDGSLLVWHVDWLDEYQPGMFRQVQVS
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (2) 0 (0) 0 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top