AutismKB 2.0

Evidence Details for SMAD9


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Basic Information Top
Gene Symbol:SMAD9 ( MADH6,MADH9,SMAD8,SMAD8A,SMAD8B )
Gene Full Name: SMAD family member 9
Band: 13q13.3
Quick LinksEntrez ID:4093; OMIM: 603295; Uniprot ID:SMAD9_HUMAN; ENSEMBL ID: ENSG00000120693; HGNC ID: 6774
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMAD9|4093|nucleotide
ATGCACTCCACCACCCCCATCAGCTCCCTCTTCTCCTTCACCAGCCCCGCAGTGAAGAGACTGCTAGGCTGGAAGCAAGGAGATGAAGAGGAAAAGTGGGCAGAG
AAGGCAGTGGACTCTCTAGTGAAGAAGTTAAAGAAGAAGAAGGGAGCCATGGACGAGCTGGAGAGGGCTCTCAGCTGCCCGGGGCAGCCCAGCAAATGCGTCACG
ATTCCCCGCTCCCTGGACGGGCGGCTGCAGGTGTCCCACCGCAAGGGCCTGCCCCATGTGATTTACTGTCGCGTGTGGCGCTGGCCGGATCTGCAGTCCCACCAC
GAGCTGAAGCCGCTGGAGTGCTGTGAGTTCCCATTTGGCTCCAAGCAGAAAGAAGTGTGCATTAACCCTTACCACTACCGCCGGGTGGAGACTCCAGTACTGCCT
CCTGTGCTCGTGCCAAGACACAGTGAATATAACCCCCAGCTCAGCCTCCTGGCCAAGTTCCGCAGCGCCTCCCTGCACAGTGAGCCACTCATGCCACACAACGCC
ACCTATCCTGACTCTTTCCAGCAGCCTCCGTGCTCTGCACTCCCTCCCTCACCCAGCCACGCGTTCTCCCAGTCCCCGTGCACGGCCAGCTACCCTCACTCCCCA
GGAAGTCCTTCTGAGCCAGAGAGTCCCTATCAACACTCAGTTGACACACCACCCCTGCCTTATCATGCCACAGAAGCCTCTGAGACCCAGAGTGGCCAACCTGTA
GATGCCACAGCTGATAGACATGTAGTGCTATCGATACCAAATGGAGACTTTCGACCAGTTTGTTACGAGGAGCCCCAGCACTGGTGCTCGGTCGCCTACTATGAA
CTGAACAACCGAGTTGGGGAGACATTCCAGGCTTCCTCCCGAAGTGTGCTCATAGATGGGTTCACCGACCCTTCAAATAACAGGAACAGATTCTGTCTTGGACTT
CTTTCTAATGTAAACAGAAACTCAACGATAGAAAATACCAGGAGACATATAGGAAAGGGTGTGCACTTGTACTACGTCGGGGGAGAGGTGTATGCCGAGTGCGTG
AGTGACAGCAGCATCTTTGTGCAGAGCCGGAACTGCAACTATCAACACGGCTTCCACCCAGCTACCGTCTGCAAGATCCCCAGCGGCTGCAGCCTCAAGGTCTTC
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>SMAD9|4093|protein
MHSTTPISSLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDSLVKKLKKKKGAMDELERALSCPGQPSKCVTIPRSLDGRLQVSHRKGLPHVIYCRVWRWPDLQSHH
ELKPLECCEFPFGSKQKEVCINPYHYRRVETPVLPPVLVPRHSEYNPQLSLLAKFRSASLHSEPLMPHNATYPDSFQQPPCSALPPSPSHAFSQSPCTASYPHSP
GSPSEPESPYQHSVDTPPLPYHATEASETQSGQPVDATADRHVVLSIPNGDFRPVCYEEPQHWCSVAYYELNNRVGETFQASSRSVLIDGFTDPSNNRNRFCLGL
LSNVNRNSTIENTRRHIGKGVHLYYVGGEVYAECVSDSSIFVQSRNCNYQHGFHPATVCKIPSGCSLKVFNNQLFAQLLAQSVHHGFEVVYELTKMCTIRMSFVK
GWGAEYHRQDVTSTPCWIEIHLHGPLQWLDKVLTQMGSPHNPISSVS
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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 (0) 0 (1) 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
Smith, 2002 - FISHautism - - - - 1 - 1
Linkage Studies Top