AutismKB 2.0

Evidence Details for SMG7


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Basic Information Top
Gene Symbol:SMG7 ( C1orf16,EST1C,FLJ23717,KIAA0250,SGA56M )
Gene Full Name: Smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)
Band: 1q25.3
Quick LinksEntrez ID:9887; OMIM: 610964; Uniprot ID:SMG7_HUMAN; ENSEMBL ID: ENSG00000116698; HGNC ID: 16792
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMG7|9887|nucleotide
ATGCTAGTTACCGATTTGGAATACGCTTTAGACAAGAAAGTAGAACAGGATCTCTGGAATCACGCCTTTAAGAATCAGATCACAACACTGCAAGGCCAGGCAAAG
AATCGAGCAAATCCGAATCGGAGTGAAGTTCAGGCAAACCTTTCTCTGTTCCTAGAGGCAGCTAGTGGCTTCTATACTCAGTTATTACAAGAACTGTGTACAGTA
TTTAATGTAGATTTACCATGCCGTGTGAAGTCTTCCCAATTGGGAATTATCAGCAATAAACAGACGCATACCAGCGCCATAGTGAAGCCACAGTCTAGCTCCTGT
TCCTATATCTGCCAGCACTGCCTCGTCCACCTTGGAGACATTGCTCGATACAGAAACCAGACCAGCCAGGCAGAGTCCTACTATAGGCATGCAGCTCAGCTTGTC
CCCTCCAATGGTCAGCCTTATAATCAGTTGGCTATCTTAGCTTCTTCCAAAGGAGACCATCTGACCACAATTTTCTACTACTGCAGAAGCATTGCTGTGAAGTTC
CCTTTCCCAGCTGCCTCCACTAATCTGCAAAAAGCACTTTCTAAAGCACTGGAAAGCCGAGATGAGGTGAAAACCAAGTGGGGTGTTTCTGACTTCATCAAGGCC
TTTATTAAATTCCACGGTCATGTGTACCTGAGTAAGAGCTTGGAAAAGTTGAGCCCTCTTCGAGAGAAATTGGAAGAACAGTTTAAGAGGCTGCTATTCCAAAAA
GCTTTCAACTCTCAGCAGTTAGTTCATGTCACTGTCATTAACCTGTTTCAACTTCATCACCTTCGTGACTTTAGCAATGAAACCGAGCAGCACACTTATAGCCAA
GATGAGCAGCTATGTTGGACACAGTTGCTGGCCCTCTTTATGTCTTTTCTTGGCATCCTGTGCAAGTGTCCTCTACAGAATGAGTCTCAGGAGGAGTCCTACAAT
GCCTATCCTCTTCCAGCAGTCAAGGTCTCCATGGACTGGCTAAGACTCAGACCCAGGGTCTTTCAGGAGGCAGTGGTGGATGAAAGACAGTACATTTGGCCCTGG
TTGATTTCTCTTCTGAATAGTTTCCATCCCCATGAAGAGGACCTCTCAAGTATTAGTGCGACACCACTTCCAGAGGAGTTTGAATTACAAGGATTTTTGGCATTG
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>SMG7|9887|protein
MLVTDLEYALDKKVEQDLWNHAFKNQITTLQGQAKNRANPNRSEVQANLSLFLEAASGFYTQLLQELCTVFNVDLPCRVKSSQLGIISNKQTHTSAIVKPQSSSC
SYICQHCLVHLGDIARYRNQTSQAESYYRHAAQLVPSNGQPYNQLAILASSKGDHLTTIFYYCRSIAVKFPFPAASTNLQKALSKALESRDEVKTKWGVSDFIKA
FIKFHGHVYLSKSLEKLSPLREKLEEQFKRLLFQKAFNSQQLVHVTVINLFQLHHLRDFSNETEQHTYSQDEQLCWTQLLALFMSFLGILCKCPLQNESQEESYN
AYPLPAVKVSMDWLRLRPRVFQEAVVDERQYIWPWLISLLNSFHPHEEDLSSISATPLPEEFELQGFLALRPSFRNLDFSKGHQGITGDKEGQQRRIRQQRLISI
GKWIADNQPRLIQCENEVGKLLFITEIPELILEDPSEAKENLILQETSVIESLAADGSPGLKSVLSTSRNLSNNCDTGEKPVVTFKENIKTREVNRDQGRSFPPK
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top