AutismKB 2.0

Evidence Details for MSH5


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Basic Information Top
Gene Symbol:MSH5 ( DKFZp434C1615,G7,MGC2939,MUTSH5,NG23 )
Gene Full Name: mutS homolog 5 (E. coli)
Band: 6p21.33
Quick LinksEntrez ID:4439; OMIM: 603382; Uniprot ID:MSH5_HUMAN; ENSEMBL ID: ENSG00000204410; HGNC ID: 7328
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MSH5|4439|nucleotide
ATGGCCTCCTTAGGAGCGAACCCAAGGAGGACACCGCAGGGACCGAGACCTGGGGCGGCCTCCTCCGGCTTCCCCAGCCCGGCCCCAGTGCCGGGCCCCAGGGAG
GCCGAGGAGGAGGAAGTCGAGGAGGAGGAGGAGCTGGCCGAGATCCATCTGTGTGTGCTGTGGAATTCAGGATACTTGGGCATTGCCTACTATGATACTAGTGAC
TCCACTATCCACTTCATGCCAGATGCCCCAGACCACGAGAGCCTCAAGCTTCTCCAGAGAGTTCTGGATGAGATCAATCCCCAGTCTGTTGTTACGAGTGCCAAA
CAGGATGAGAATATGACTCGATTTCTGGGAAAGCTTGCCTCCCAGGAGCACAGAGAGCCTAAAAGACCTGAAATCATATTTTTGCCAAGTGTGGATTTTGGTCTG
GAGATAAGCAAACAACGCCTCCTTTCTGGAAACTACTCCTTCATCCCAGACGCCATGACTGCCACTGAGAAAATCCTCTTCCTCTCTTCCATTATTCCCTTTGAC
TGCCTCCTCACAGTTCGAGCACTTGGAGGGCTGCTGAAGTTCCTGGGTCGAAGAAGAATCGGGGTTGAACTGGAAGACTATAATGTCAGCGTCCCCATCCTGGGC
TTTAAGAAATTTATGTTGACTCATCTGGTGAACATAGATCAAGACACTTACAGTGTTCTACAGATTTTTAAGAGTGAGTCTCACCCCTCAGTGTACAAAGTGGCC
AGTGGACTGAAGGAGGGGCTCAGCCTCTTTGGAATCCTCAACAGATGCCACTGTAAGTGGGGAGAGAAGCTGCTCAGGCTATGGTTCACACGTCCGACTCATGAC
CTGGGGGAGCTCAGTTCTCGTCTGGACGTCATTCAGTTTTTTCTGCTGCCCCAGAATCTGGACATGGCTCAGATGCTGCATCGGCTCCTGGGTCACATCAAGAAC
GTGCCTCTGATTCTGAAACGCATGAAGTTGTCCCACACCAAGGTCAGCGACTGGCAGGTTCTCTACAAGACTGTGTACAGTGCCCTGGGCCTGAGGGATGCCTGC
CGCTCCCTGCCGCAGTCCATCCAGCTCTTTCGGGACATTGCCCAAGAGTTCTCTGATGACCTGCACCATATCGCCAGCCTCATTGGGAAAGTAGTGGACTTTGAG
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>MSH5|4439|protein
MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAK
QDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTVRALGGLLKFLGRRRIGVELEDYNVSVPILG
FKKFMLTHLVNIDQDTYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTRPTHDLGELSSRLDVIQFFLLPQNLDMAQMLHRLLGHIKN
VPLILKRMKLSHTKVSDWQVLYKTVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEV
ARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDL
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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 (2) 0 (0) 0 (0) 0 (0) 2 (4)
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