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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018