AutismKB 2.0

Evidence Details for GLIS2


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Basic Information Top
Gene Symbol:GLIS2 ( FLJ38247,NKL,NPHP7 )
Gene Full Name: GLIS family zinc finger 2
Band: 16p13.3
Quick LinksEntrez ID:84662; OMIM: 608539; Uniprot ID:GLIS2_HUMAN; ENSEMBL ID: ENSG00000126603; HGNC ID: 29450
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GLIS2|84662|nucleotide
ATGCACTCCCTGGACGAGCCGCTCGACCTGAAGCTGAGTATCACCAAGCTCCGGGCGGCAAGAGAGAAGCGGGAGAGGACGCTGGGTGTGGTCCGGCCCCGTGCT
CTGCACAGGGAGCTGGGCCTGGTGGATGACAGCCCCACACCTGGCTCTCCAGGCTCCCCGCCCTCAGGCTTCCTGCTGAACTCCAAGTTCCCCGAGAAGGTGGAG
GGACGCTTTTCAGCAGCCCCTCTCGTGGACCTCAGCCTGTCACCACCATCTGGGCTGGACTCCCCCAATGGCAGCAGCTCGCTGTCCCCCGAGCGCCAGGGCAAC
GGGGACCTGCCTCCAGTGCCCAGTGCCTCGGACTTCCAGCCACTGCGCTATTTGGATGGTGTCCCCAGCTCCTTCCAGTTCTTCCTGCCCCTCGGCTCCGGGGGG
GCCCTGCACCTGCCTGCCTCCTCCTTCCTTACCCCTCCCAAGGACAAGTGCCTCTCGCCAGACCTGCCCCTGCCCAAGCAGCTGGTGTGTCGCTGGGCCAAGTGT
AACCAGCTCTTTGAGCTCCTGCAAGACCTGGTGGACCATGTCAACGATTACCATGTCAAGCCCGAGAAGGATGCGGGGTACTGCTGCCACTGGGAGGGCTGCGCC
CGCCATGGCCGAGGTTTCAACGCCAGGTACAAGATGCTCATCCACATCCGCACACACACCAACGAGAAGCCACACCGCTGTCCGACCTGCAGCAAGAGCTTCTCC
CGCCTGGAGAACCTGAAGATCCACAACCGGTCGCACACAGGTGAGAAGCCCTACGTCTGCCCCTACGAGGGCTGCAACAAGCGCTATTCCAACTCCAGTGACCGC
TTTAAGCACACGCGCACCCACTATGTGGACAAGCCCTACTACTGCAAGATGCCCGGCTGCCACAAGCGCTACACGGACCCCAGCTCACTGCGCAAGCACATCAAG
GCCCATGGCCACTTTGTGTCCCACGAGCAGCAAGAGCTCCTGCAGCTGCGCCCACCCCCCAAGCCGCCACTGCCCGCCCCCGACGGCGGCCCCTATGTCAGTGGG
GCCCAGATCATCATCCCCAACCCAGCTGCCCTCTTTGGAGGCCCTGGCCTGCCCGGCTTACCCCTACCCCTGGCCCCCGGCCCCCTTGACCTCAGTGCCCTGGCC
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>GLIS2|84662|protein
MHSLDEPLDLKLSITKLRAAREKRERTLGVVRPRALHRELGLVDDSPTPGSPGSPPSGFLLNSKFPEKVEGRFSAAPLVDLSLSPPSGLDSPNGSSSLSPERQGN
GDLPPVPSASDFQPLRYLDGVPSSFQFFLPLGSGGALHLPASSFLTPPKDKCLSPDLPLPKQLVCRWAKCNQLFELLQDLVDHVNDYHVKPEKDAGYCCHWEGCA
RHGRGFNARYKMLIHIRTHTNEKPHRCPTCSKSFSRLENLKIHNRSHTGEKPYVCPYEGCNKRYSNSSDRFKHTRTHYVDKPYYCKMPGCHKRYTDPSSLRKHIK
AHGHFVSHEQQELLQLRPPPKPPLPAPDGGPYVSGAQIIIPNPAALFGGPGLPGLPLPLAPGPLDLSALACGNGGGSGGGGGMGPGLPGPVLPLNLAKNPLLPSP
FGAGGLGLPVVSLLAGAAGGKAEGEKGRGSVPTRALGMEGHKTPLERTESSCSRPSPDGLPLLPGTVLDLSTGVNSAASSPEALAPGWVVIPPGSVLLKPAVVN
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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) 1 (2) 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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
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