AutismKB 2.0

Evidence Details for SMCHD1


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Basic Information Top
Gene Symbol:SMCHD1 ( DKFZp686O0631,KIAA0650 )
Gene Full Name: structural maintenance of chromosomes flexible hinge domain containing 1
Band: 18p11.32
Quick LinksEntrez ID:23347; OMIM: NA; Uniprot ID:SMHD1_HUMAN; ENSEMBL ID: ENSG00000101596; HGNC ID: 29090
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMCHD1|23347|nucleotide
ATGGCAGCGGCGGACGGCGGCGGGCCTGGTGGGGCCTCTGTGGGGACTGAGGAGGATGGCGGAGGCGTCGGCCACAGGACGGTGTACTTGTTTGATCGGCGCGAA
AAGGAGTCCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGCTCGGACTACGCGGGATTTCGCGCGTGTGTGTGTCAGACACTTGGCATTTCACCTGAAGAA
AAATTTGTTATTACAACAACAAGTAGGAAAGAAATTACCTGTGATAATTTTGATGAAACTGTTAAAGATGGAGTCACCTTATACCTGCTACAGTCGGTCAATCAG
TTACTACTGACAGCTACGAAAGAACGAATTGACTTCTTACCTCACTATGACACACTGGTTAAAAGTGGCATGTATGAATATTATGCCAGTGAAGGACAAAATCCT
TTGCCATTTGCTCTTGCGGAATTAATTGACAATTCATTGTCTGCTACTTCTCGTAACATTGGGGTTAGAAGAATACAGATCAAATTGCTTTTTGATGAAACACAA
GGAAAACCTGCTGTTGCAGTGATAGATAATGGAAGAGGAATGACCTCTAAACAGCTTAACAACTGGGCCGTGTATAGGTTGTCAAAATTCACAAGGCAAGGTGAC
TTTGAAAGTGATCATTCAGGATATGTTCGTCCAGTACCAGTGCCACGCAGTTTAAATAGTGATATTTCCTATTTTGGTGTTGGGGGCAAGCAAGCTGTCTTCTTT
GTTGGACAATCAGCCAGAATGATAAGCAAACCTGCAGATTCCCAAGATGTTCACGAGCTTGTGCTTTCTAAAGAAGATTTTGAGAAGAAGGAGAAAAATAAAGAG
GCAATATATAGTGGATATATTAGAAACAGAAAGCCCTCTGATTCTGTTCACATTACAAATGATGATGAAAGATTTCTACATCATCTTATCATAGAGGAGAAGGAA
AAAGATAGCTTTACTGCTGTGGTTATCACAGGGGTACAACCAGAACACATACAGTACTTGAAAAATTATTTCCACCTTTGGACACGACAGTTAGCGCATATTTAT
CACTACTATATTCATGGCCCAAAAGGAAATGAAATACGAACATCAAAAGAAGTTGAACCTTTCAACAATATTGATATTGAAATTTCTATGTTTGAAAAAGGGAAG
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>SMCHD1|23347|protein
MAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEITCDNFDETVKDGVTLYLLQSVNQ
LLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFDETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGD
FESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDVHELVLSKEDFEKKEKNKEAIYSGYIRNRKPSDSVHITNDDERFLHHLIIEEKE
KDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIYHYYIHGPKGNEIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGD
GVVEGIIRYHPFLYDRETYPDDPCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNK
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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 (0) 0 (0) 0 (0) 0 (0) 0 (3) 0 (0) 0 (0) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top