AutismKB 2.0

Evidence Details for LHX3


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Basic Information Top
Gene Symbol:LHX3 ( CPHD3,DKFZp762A2013,LIM3,M2-LHX3 )
Gene Full Name: LIM homeobox 3
Band: 9q34.3
Quick LinksEntrez ID:8022; OMIM: 600577; Uniprot ID:LHX3_HUMAN; ENSEMBL ID: ENSG00000107187; HGNC ID: 6595
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LHX3|8022|nucleotide
ATGGAGGCGCGCGGGGAGCTGGGCCCGGCCCGGGAGTCGGCGGGAGGCGACCTGCTGCTAGCACTGCTGGCGCGGAGGGCGGACCTGCGCCGAGAGATCCCGCTG
TGCGCTGGCTGTGACCAGCACATCCTGGACCGCTTCATCCTCAAGGCTCTGGACCGCCACTGGCACAGCAAGTGTCTCAAGTGCAGCGACTGCCACACGCCACTG
GCCGAGCGCTGCTTCAGCCGAGGGGAGAGCGTTTACTGCAAGGACGACTTTTTCAAGCGCTTCGGGACCAAGTGCGCCGCGTGCCAGCTGGGCATCCCGCCCACG
CAGGTGGTGCGCCGCGCCCAGGACTTCGTGTACCACCTGCACTGCTTTGCCTGCGTCGTGTGCAAGCGGCAGCTGGCCACGGGCGACGAGTTCTACCTCATGGAG
GACAGCCGGCTCGTGTGCAAGGCGGACTACGAAACCGCCAAGCAGCGAGAGGCCGAGGCCACGGCCAAGCGGCCGCGCACGACCATCACCGCCAAGCAGCTGGAG
ACGCTGAAGAGCGCTTACAACACCTCGCCCAAGCCGGCGCGCCACGTGCGCGAGCAGCTCTCGTCCGAGACGGGCCTGGACATGCGCGTGGTGCAGGTTTGGTTC
CAGAACCGCCGGGCCAAGGAGAAGAGGCTGAAGAAGGACGCCGGCCGGCAGCGCTGGGGGCAGTATTTCCGCAACATGAAGCGCTCCCGCGGCGGCTCCAAGTCG
GACAAGGACAGCGTTCAGGAGGGGCAGGACAGCGACGCTGAGGTCTCCTTCCCCGATGAGCCTTCCTTGGCGGAAATGGGCCCGGCCAATGGCCTCTACGGGAGC
TTGGGGGAACCCACCCAGGCCTTGGGCCGGCCCTCGGGAGCCCTGGGCAACTTCTCCCTGGAGCATGGAGGCCTGGCAGGCCCAGAGCAGTACCGAGAGCTGCGT
CCCGGCAGCCCCTACGGTGTCCCCCCATCCCCCGCCGCCCCGCAGAGCCTCCCTGGCCCCCAGCCCCTCCTCTCCAGCCTGGTGTACCCAGACACCAGCTTGGGC
CTTGTGCCCTCGGGAGCCCCCGGCGGGCCCCCACCCATGAGGGTGCTGGCAGGGAACGGACCCAGTTCTGACCTATCCACGGGGAGCAGCGGGGGTTACCCCGAC
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>LHX3|8022|protein
MEARGELGPARESAGGDLLLALLARRADLRREIPLCAGCDQHILDRFILKALDRHWHSKCLKCSDCHTPLAERCFSRGESVYCKDDFFKRFGTKCAACQLGIPPT
QVVRRAQDFVYHLHCFACVVCKRQLATGDEFYLMEDSRLVCKADYETAKQREAEATAKRPRTTITAKQLETLKSAYNTSPKPARHVREQLSSETGLDMRVVQVWF
QNRRAKEKRLKKDAGRQRWGQYFRNMKRSRGGSKSDKDSVQEGQDSDAEVSFPDEPSLAEMGPANGLYGSLGEPTQALGRPSGALGNFSLEHGGLAGPEQYRELR
PGSPYGVPPSPAAPQSLPGPQPLLSSLVYPDTSLGLVPSGAPGGPPPMRVLAGNGPSSDLSTGSSGGYPDFPASPASWLDEVDHAQF

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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (2) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (5)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
Buxbaum, 2001 USA microsatellite-based genomic screenautism, PDD, Asperger syndrome 35 - 35 - - - -
Lamb, 2005 - microsatellite-based genomic screenautism 207 - 207 - 420 - -
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