AutismKB 2.0

Evidence Details for SMG6


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Basic Information Top
Gene Symbol:SMG6 ( C17orf31,EST1A,KIAA0732,SMG-6 )
Gene Full Name: Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
Band: 17p13.3
Quick LinksEntrez ID:23293; OMIM: 610963; Uniprot ID:EST1A_HUMAN; ENSEMBL ID: ENSG00000070366; HGNC ID: 17809
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMG6|23293|nucleotide
ATGAAGGAATTAAAGGAGGCCAGGCCGCGCAAAGATAACAGGCGTCCAGATCTGGAAATCTATAAGCCTGGCCTTTCTCGGCTAAGGAACAAGCCCAAAATCAAG
GAACCCCCTGGGAGTGAGGAATTCAAAGATGAAATTGTTAATGACCGAGATTGCTCTGCTGTTGAAAATGGTACACAGCCCGTTAAAGATGTCTGCAAGGAACTG
AACAACCAAGAGCAGAATGGTCCTATAGACCCAGAAAATAATCGGGGACAAGAATCCTTTCCTAGGACTGCTGGACAAGAGGATCGTAGTCTAAAAATTATCAAA
AGAACAAAGAAACCCGACCTGCAGATCTATCAGCCTGGACGACGTTTGCAGACTGTTAGCAAAGAATCCGCCAGTCGGGTGGAGGAGGAAGAAGTCCTCAACCAG
GTAGAACAACTGAGAGTAGAGGAAGATGAGTGTAGGGGAAATGTTGCGAAGGAGGAAGTTGCGAATAAACCAGACAGGGCTGAGATAGAAAAGAGCCCAGGTGGT
GGGAGAGTAGGGGCTGCAAAAGGAGAAAAAGGAAAGAGGATGGGAAAAGGGGAGGGGGTGAGGGAAACCCACGACGACCCAGCCCGCGGGAGGCCGGGCTCCGCA
AAGCGCTACTCCCGCTCAGACAAACGAAGGAATCGCTACCGCACGCGCAGCACCAGCTCAGCTGGCAGCAACAACAGCGCTGAGGGAGCTGGCCTGACGGATAAT
GGATGTCGCCGCCGCCGACAGGATAGGACCAAGGAGAGGCCACGACTGAAGAAGCAAGTGTCTGTGTCCTCAACCGATTCCTTAGACGAGGACAGAATTGATGAG
CCTGATGGATTAGGACCCAGGAGAAGTTCAGAAAGGAAGAGACATTTAGAAAGAAACTGGTCTGGCCGTGGGGAGGGTGAGCAGAAAAACAGTGCTAAAGAATAT
CGAGGCACTCTTCGTGTCACTTTCGATGCAGAAGCCATGAACAAAGAGTCTCCCATGGTGAGGTCAGCCAGGGATGATATGGATAGAGGAAAGCCTGACAAAGGC
TTGAGCAGTGGGGGCAAAGGCTCTGAGAAGCAGGAGTCCAAAAACCCGAAACAAGAACTTCGGGGTCGTGGTCGTGGCATTCTGATTTTGCCTGCCCATACCACC
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>SMG6|23293|protein
MKELKEARPRKDNRRPDLEIYKPGLSRLRNKPKIKEPPGSEEFKDEIVNDRDCSAVENGTQPVKDVCKELNNQEQNGPIDPENNRGQESFPRTAGQEDRSLKIIK
RTKKPDLQIYQPGRRLQTVSKESASRVEEEEVLNQVEQLRVEEDECRGNVAKEEVANKPDRAEIEKSPGGGRVGAAKGEKGKRMGKGEGVRETHDDPARGRPGSA
KRYSRSDKRRNRYRTRSTSSAGSNNSAEGAGLTDNGCRRRRQDRTKERPRLKKQVSVSSTDSLDEDRIDEPDGLGPRRSSERKRHLERNWSGRGEGEQKNSAKEY
RGTLRVTFDAEAMNKESPMVRSARDDMDRGKPDKGLSSGGKGSEKQESKNPKQELRGRGRGILILPAHTTLSVNSAGSPESAPLGPRLLFGSGSKGSRSWGRGGT
TRRLWDPNNPDQKPALKTQTPQLHFLDTDDEVSPTSWGDSRQAQASYYKFQNSDNPYYYPRTPGPASQYPYTGYNPLQYPVGPTNGVYPGPYYPGYPTPSGQYVC
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (2)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top