AutismKB 2.0

Evidence Details for DIS3L


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Basic Information Top
Gene Symbol:DIS3L ( FLJ38088,KIAA1955,MGC4562 )
Gene Full Name: DIS3 mitotic control homolog (S. cerevisiae)-like
Band: 15q22.31
Quick LinksEntrez ID:115752; OMIM: NA; Uniprot ID:DI3L1_HUMAN; ENSEMBL ID: ENSG00000166938; HGNC ID: 28698
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DIS3L|115752|nucleotide
ATGCTGCAGAAGCGGGAGAAGGTGCTGCTGCTGAGGACCTTCCAGGGCCGCACGCTGCGGATCGTGCGCGAGCACTACCTGCGGCCCTGCGTGCCCTGCCACAGC
CCGCTCTGCCCGCAGCCCGCCGCCTGCAGCCACGATGGGAAACTCTTGTCTAGTGATGTGACTCATTACGTGATCCCAGACTGGAAAGTTGTTCAAGATTATCTT
GAGATCCTTGAGTTTCCTGAGTTGAAGGGAATTATTTTCATGCAGACAGCTTGTCAAGCTGTGCAGCATCAAAGAGGCAGGAGACAGTATAACAAACTGCGAAAC
CTGCTGAAGGATGCGCGTCATGATTGCATTCTCTTTGCTAATGAATTCCAGCAATGCTGCTATCTGCCACGGGAAAGAGGAGAGTCCATGGAGAAGTGGCAGACC
AGGAGCATATACAACGCAGCTGTTTGGTACTATCATCACTGCCAGGACAGGATGCCAATTGTTATGGTGACAGAAGATGAAGAGGCAATTCAGCAGTATGGAAGT
GAAACAGAAGGAGTATTCGTGATTACTTTCAAGAATTACCTGGACAATTTCTGGCCTGATTTAAAAGCTGCCCACGAGCTTTGTGATTCTATCCTTCAGTCTCGA
CGGGAGAGAGAGAATGAGAGTCAGGAGAGCCATGGGAAGGAGTACCCAGAACATCTTCCCCTGGAAGTGTTAGAAGCTGGGATTAAATCTGGACGCTATATCCAG
GGAATTCTGAATGTCAACAAACACAGAGCCCAAATAGAAGCTTTTGTTCGACTTCAAGGAGCCAGCAGTAAAGATTCAGATTTAGTCAGTGACATCCTAATCCAC
GGGATGAAGGCTCGAAACCGCTCAATTCATGGAGATGTGGTAGTTGTGGAGCTGCTTCCTAAAAATGAATGGAAAGGAAGAACCGTAGCCCTGTGTGAGAATGAC
TGTGACGACAAGGCTTCGGGCGAGTCCCCAAGTGAGCCCATGCCTACAGGTCGAGTGGTGGGCATACTTCAGAAGAACTGGCGGGATTATGTGGTGACATTTCCG
TCCAAAGAAGAGGTCCAATCTCAGGGCAAAAATGCTCAGAAAATCCTGGTTACACCTTGGGATTACAGAATTCCCAAAATTCGAATTAGCACTCAGCAAGCAGAA
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>DIS3L|115752|protein
MLQKREKVLLLRTFQGRTLRIVREHYLRPCVPCHSPLCPQPAACSHDGKLLSSDVTHYVIPDWKVVQDYLEILEFPELKGIIFMQTACQAVQHQRGRRQYNKLRN
LLKDARHDCILFANEFQQCCYLPRERGESMEKWQTRSIYNAAVWYYHHCQDRMPIVMVTEDEEAIQQYGSETEGVFVITFKNYLDNFWPDLKAAHELCDSILQSR
RERENESQESHGKEYPEHLPLEVLEAGIKSGRYIQGILNVNKHRAQIEAFVRLQGASSKDSDLVSDILIHGMKARNRSIHGDVVVVELLPKNEWKGRTVALCEND
CDDKASGESPSEPMPTGRVVGILQKNWRDYVVTFPSKEEVQSQGKNAQKILVTPWDYRIPKIRISTQQAETLQDFRVVVRIDSWESTSVYPNGHFVRVLGRIGDL
EGEIATILVENSISVIPFSEAQMCEMPVNTPESPWKVSPEEEQKRKDLRKSHLVFSIDPKGCEDVDDTLSVRTLNNGNLELGVHIADVTHFVAPNSYIDIEARTR
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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top