AutismKB 2.0

Evidence Details for GLIS3


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Basic Information Top
Gene Symbol:GLIS3 ( FLJ38999,FLJ90578,MGC33662,ZNF515 )
Gene Full Name: GLIS family zinc finger 3
Band: 9p24.2
Quick LinksEntrez ID:169792; OMIM: 610192; Uniprot ID:GLIS3_HUMAN; ENSEMBL ID: ENSG00000107249; HGNC ID: 28510
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GLIS3|169792|nucleotide
ATGAATGGAAGATCATGCAGCATGAGTCTCCACCGGACATCGGGAACCCCACAGGGGCCTAGGATGGTCAGTGGTCATCACATTCCTGCCATCCGAGCCCACTCC
GGGACTCCTGGCCCCTCGCCCTGTGGCAGCACATCGAGTCCCACTATGGCAAGCCTTGCTAACAACCTCCATCTCAAGATGCCCTCAGGAGGAGGGATGGCTCCT
CAGAACAACGTGGCTGAGAGCCGCATCCATCTGCCTGCCTTAAGCCCCAGGAGACAAATGCTCACCAATGGGAAGCCGCGATTCCAGGTCACCCAGGCTGGAGGC
ATGTCAGGGTCACATACTTTAAAGCCAAAGCAGCAGGAGTTTGGAAGCCCTTTTCCTCCAAATCCTGGGAAAGGGGCTCTTGGCTTTGGGCCTCAGTGCAAGTCC
ATTGGAAAAGGCAGCTGCAACAATCTAGTGGTCACCAGCAGTCCCATGATGGTTCAGCGACTGGGACTCATTTCACCTCCAGCAAGCCAGGTCTCTACAGCATGC
AACCAGATCAGTCCTAGCTTACAGAGGGCAATGAATGCAGCCAACCTGAATATACCTCCTTCAGATACCAGGTCCCTTATTTCGCGTGAGTCTTTGGCGTCCACG
ACCTTGAGTCTGACGGAAAGTCAGTCGGCCTCAAGCATGAAGCAGGAGTGGTCCCAGGGCTACAGGGCCCTCCCTTCGCTCTCCAACCACGGCTCTCAGAATGGC
CTTGATCTAGGGGATCTCCTTAGCCTTCCTCCCGGGACATCCATGTCCAGCAATAGTGTCTCTAACTCATTACCATCCTACCTTTTTGGCACGGAAAGTAGCCAC
TCTCCTTACCCTAGTCCTCGGCACTCATCCACCAGGTCCCACTCGGCCCGCTCCAAGAAGAGAGCGCTGTCCTTGTCCCCGCTGTCCGATGGCATCGGGATAGAT
TTCAATACCATCATCCGCACGTCGCCCACGTCCTTGGTGGCCTACATCAACGGGTCGAGGGCTTCGCCGGCCAACCTGTCCCCGCAGCCGGAGGTCTACGGGCAT
TTCCTGGGCGTGCGCGGCAGCTGCATTCCCCAGCCGCGCCCGGTGCCCGGCAGCCAGAAGGGCGTGCTGGTGGCCCCTGGAGGCCTGGCGCTGCCGGCCTACGGC
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>GLIS3|169792|protein
MNGRSCSMSLHRTSGTPQGPRMVSGHHIPAIRAHSGTPGPSPCGSTSSPTMASLANNLHLKMPSGGGMAPQNNVAESRIHLPALSPRRQMLTNGKPRFQVTQAGG
MSGSHTLKPKQQEFGSPFPPNPGKGALGFGPQCKSIGKGSCNNLVVTSSPMMVQRLGLISPPASQVSTACNQISPSLQRAMNAANLNIPPSDTRSLISRESLAST
TLSLTESQSASSMKQEWSQGYRALPSLSNHGSQNGLDLGDLLSLPPGTSMSSNSVSNSLPSYLFGTESSHSPYPSPRHSSTRSHSARSKKRALSLSPLSDGIGID
FNTIIRTSPTSLVAYINGSRASPANLSPQPEVYGHFLGVRGSCIPQPRPVPGSQKGVLVAPGGLALPAYGEDGALEHERMQQLEHGGLQPGLVNHMVVQHGLPGP
DSQSAGLFKTERLEEFPGSTVDLPPAPPLPPLPPPPGPPPPYHAHAHLHHPELGPHAQQLALPQATLDDDGEMDGIGGKHCCRWIDCSALYDQQEELVRHIEKVH
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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 (4) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 3 (7)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Bremer, 2011 - aCGHASD - - - - 223 - 223
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Eriksson MA, 2015 Sweden FISH?--autism - - - - 162 - 162
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Garbett, 2008_1 Unknown superior temporal gyrus (STG) 6
(33.33%)
---autism 6
(33.33%)
1.99363 Up 0.0376338
  • Platform: Affymetrix Human Genome 133 plus 2 microarrays
  • ProbeSet: 229435_at
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: pairwise/groupwise two-tailed t-test between the RMA intensities of AUT and CONT samples
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
Doan RN, 2016 - ---ASD - - - - -
Low Scale Gene Studies Top

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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