AutismKB 2.0

Evidence Details for SMC6


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Basic Information Top
Gene Symbol:SMC6 ( FLJ22116,FLJ35534,SMC-6,SMC6L1,hSMC6 )
Gene Full Name: structural maintenance of chromosomes 6
Band: 2p24.2
Quick LinksEntrez ID:79677; OMIM: 609387; Uniprot ID:SMC6_HUMAN; ENSEMBL ID: ENSG00000163029; HGNC ID: 20466
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMC6|79677|nucleotide
ATGGCCAAAAGAAAGGAAGAAAATTTTTCCTCTCCTAAAAATGCCAAAAGGCCAAGACAAGAAGAATTGGAGGATTTTGATAAAGATGGTGACGAAGACGAATGT
AAAGGTACTACTTTGACTGCAGCAGAAGTTGGAATAATTGAGAGTATTCACCTAAAAAACTTCATGTGTCATTCAATGCTTGGACCTTTTAAGTTTGGTTCTAAT
GTCAACTTTGTTGTTGGCAACAATGGAAGTGGGAAGAGTGCAGTACTCACAGCTCTCATAGTCGGTCTTGGTGGAAGAGCAGTTGCTACTAATAGAGGATCCTCT
TTAAAAGGTTTTGTGAAAGATGGACAGAACTCTGCAGATATCTCAATAACATTGAGGAACAGAGGAGATGATGCCTTTAAAGCCAGTGTGTATGGTAACTCTATA
CTTATACAGCAACACATCAGCATAGATGGAAGTCGATCTTATAAACTTAAAAGTGCAACAGGCTCCGTGGTTTCCACGAGGAAAGAAGAGCTGATTGCAATTCTT
GATCATTTTAACATCCAGGTGGATAATCCAGTTTCTGTTTTAACACAAGAAATGAGCAAGCAGTTCTTACAGTCTAAAAATGAAGGAGACAAATACAAATTCTTC
ATGAAAGCAACGCAACTTGAACAGATGAAGGAAGATTATTCATACATTATGGAAACGAAAGAAAGAACAAAGGAGCAGATACATCAAGGAGAAGAGCGGCTTACT
GAACTAAAGCGCCAGTGTGTAGAGAAAGAGGAACGTTTTCAAAGTATTGCTGGTTTAAGTACAATGAAGACTAATTTAGAGTCCTTGAAACATGAAATGGCTTGG
GCAGTGGTCAATGAAATTGAAAAACAATTGAATGCCATCAGAGATAATATCAAAATTGGAGAAGATCGTGCTGCTAGACTTGACAGGAAAATGGAAGAACAGCAG
GTCAGACTTAATGAGGCAGAACAAAAGTACAAGGATATTCAAGACAAACTAGAAAAGATTAGTGAAGAGACAAATGCACGAGCACCAGAATGTATGGCATTGAAA
GCAGATGTTGTTGCTAAGAAAAGGGCCTATAATGAAGCTGAGGTTTTATATAACCGATCCTTAAACGAATATAAAGCATTAAAGAAAGATGATGAGCAGCTTTGT
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>SMC6|79677|protein
MAKRKEENFSSPKNAKRPRQEELEDFDKDGDEDECKGTTLTAAEVGIIESIHLKNFMCHSMLGPFKFGSNVNFVVGNNGSGKSAVLTALIVGLGGRAVATNRGSS
LKGFVKDGQNSADISITLRNRGDDAFKASVYGNSILIQQHISIDGSRSYKLKSATGSVVSTRKEELIAILDHFNIQVDNPVSVLTQEMSKQFLQSKNEGDKYKFF
MKATQLEQMKEDYSYIMETKERTKEQIHQGEERLTELKRQCVEKEERFQSIAGLSTMKTNLESLKHEMAWAVVNEIEKQLNAIRDNIKIGEDRAARLDRKMEEQQ
VRLNEAEQKYKDIQDKLEKISEETNARAPECMALKADVVAKKRAYNEAEVLYNRSLNEYKALKKDDEQLCKRIEELKKSTDQSLEPERLERQKKISWLKERVKAF
QNQENSVNQEIEQFQQAIEKDKEEHGKIKREELDVKHALSYNQRQLKELKDSKTDRLKRFGPNVPALLEAIDDAYRQGHFTYKPVGPLGACIHLRDPELALAIES
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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) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top