AutismKB 2.0

Evidence Details for LIX1L


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Basic Information Top
Gene Symbol:LIX1L ( DKFZp762F237,MGC46719 )
Gene Full Name: Lix1 homolog (mouse)-like
Band: 1q21.1
Quick LinksEntrez ID:128077; OMIM: NA; Uniprot ID:LIX1L_HUMAN; ENSEMBL ID: ENSG00000152022; HGNC ID: 28715
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LIX1L|128077|nucleotide
ATGGAGACTATGCGAGCGCAGCGGCTGCAGCCTGGTGTGGGCACCAGCGGGAGGGGCACTCTCCGAGCGCTGCGGCCCGGAGTGACTGGGGCCGCGGCTGCCACC
GCCACACCCCCTGCGGGCCCCCCGCCTGCCCCGCCGCCTCCCGCACCGCCCCCGCCGCCGCTGCTCCTGTCTGGGGCCCCAGGACTACCCCTGCCCCCCGGCGCC
GCCGGCAGCCCGGCAGTGCTGCGAGAGGCCGTGGAGGCCGTGGTGAGGAGCTTCGCCAAGCACACGCAGGGCTATGGCCGAGTGAATGTGGTGGAGGCACTTCAG
GAATTCTGGCAGATGAAGCAGTCCCGTGGTGCTGACTTAAAGAATGGGGCTCTAGTGGTTTATGAGATGGTTCCCTCCAACAGCCCTCCTTATGTCTGCTATGTC
ACCCTGCCTGGGGGAAGCTGCTTTGGGAGTTTCCAGTTTTGCCCCACAAAAGCTGAGGCCCGGAGGAGTGCTGCAAAGATTGCGCTAATGAATTCTGTGTTTAAT
GAACATCCTTCCCGAAGAATCACTGATGAGTTCATCGAGAAGAGTGTCTCTGAGGCCCTGGCATCTTTTAATGGCAACAGGGAGGAAGCTGACAACCCAAATACA
GGGATTGGTGCCTTCCGATTCATGCTGGAATCCAACAAGGGCAAATCAATGTTGGAGTTCCAGGAGCTAATGACAGTTTTTCAACTGCTACACTGGAATGGCAGC
CTTAAGGCCATGAGGGAACGACAATGCTCTCGGCAGGAGGTGTTGGCTCATTATTCGCACCGGGCCCTGGATGATGATATTCGCCACCAAATGGCCTTGGACTGG
GTGAGCCGGGAGCAGAGTGTGCCGGGGGCACTGTCTAGAGAGCTGGCCTCTACTGAGCGGGAGCTGGATGAAGCCCGACTGGCAGGCAAGGAGCTGCGCTTCCAC
AAGGAGAAGAAAGATATTCTTGTGCTGGCTGCTGGGCAGTTGGGCAATATGCATTCTTCCAACTGCTAG

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>LIX1L|128077|protein
METMRAQRLQPGVGTSGRGTLRALRPGVTGAAAATATPPAGPPPAPPPPAPPPPPLLLSGAPGLPLPPGAAGSPAVLREAVEAVVRSFAKHTQGYGRVNVVEALQ
EFWQMKQSRGADLKNGALVVYEMVPSNSPPYVCYVTLPGGSCFGSFQFCPTKAEARRSAAKIALMNSVFNEHPSRRITDEFIEKSVSEALASFNGNREEADNPNT
GIGAFRFMLESNKGKSMLEFQELMTVFQLLHWNGSLKAMRERQCSRQEVLAHYSHRALDDDIRHQMALDWVSREQSVPGALSRELASTERELDEARLAGKELRFH
KEKKDILVLAAGQLGNMHSSNC

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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (2)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
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
Reference Case Number Family Number Mosaic Number Title
Dou Y, 2017 - 2361 230 Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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