AutismKB 2.0

Evidence Details for GAS2L1


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Basic Information Top
Gene Symbol:GAS2L1 ( GAR22,MGC17243 )
Gene Full Name: growth arrest-specific 2 like 1
Band: 22q12.2
Quick LinksEntrez ID:10634; OMIM: 602128; Uniprot ID:GA2L1_HUMAN; ENSEMBL ID: ENSG00000185340; HGNC ID: 16955
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GAS2L1|10634|nucleotide
ATGGCAGACCCAGTGGCGGGCATCGCGGGCTCGGCGGCCAAGAGCGTGCGGCCATTTCGCTCCAGTGAGGCCTACGTGGAGGCCATGAAGGAGGACCTGGCCGAG
TGGCTCAATGCCTTGTACGGCCTGGGTCTCCCGGGTGGTGGCGATGGCTTCCTGACAGGGCTGGCCACGGGCACGACCCTGTGCCAACATGCCAACGCCGTGACC
GAGGCTGCCCGTGCATTGGCAGCCGCCCGCCCGGCCCGAGGTGTGGCCTTCCAGGCGCACAGTGTAGTGCCTGGCTCCTTCATGGCGCGCGACAACGTGGCCACC
TTCATCGGCTGGTGCCGCGTGGAGCTGGGTGTGCCGGAGGTGCTCATGTTTGAGACTGAGGACCTGGTGCTGCGCAAGAACGAGAAGAGCGTGGTGCTGTGCCTG
CTGGAGGTGGCGCGGCGTGGGGCACGCCTGGGCCTGCTGGCCCCACGCCTCGTGCAGTTTGAGCAGGAGATTGAGCGGGAGCTGCGTGCTGCACCCCCAGCCCCC
AACGCCCCTGCCGCTGGGGAGGACACCACTGAAACCGCCCCCGCACCAGGGACTCCTGCCCGCGGCCCCCGCATGACACCCAGCGACCTGCGCAACCTCGACGAG
CTGGTGAGGGAGATTCTGGGCCGCTGCACCTGCCCTGACCAGTTTCCCATGATCAAGGTCTCAGAGGGGAAGTACCGTGTGGGGGACTCGAGCCTGCTCATCTTT
GTGCGGGTGCTGAGGAGCCACGTGATGGTGCGAGTGGGTGGTGGCTGGGACACGCTGGAGCATTACCTGGACAAGCACGACCCGTGCCGCTGCTCCTCCACTGCT
CATCGCCCACCCCAGCCGAGGGTCTGCACCTTTTCTCCACAGAGGGTGTCGCCCACCACCAGTCCCCGCCCTGCTAGCCCAGTCCCTGGGAGTGAGCGCCGGGGC
TCCCGGCCTGAGATGACTCCCGTTAGCTTACGAAGCACAAAGGAGGGGCCCGAGACCCCACCCAGGCCCCGGGATCAGCTGCCCCCCCATCCCCGCTCCCGCCGC
TACTCCGGGGACAGTGACTCCTCAGCCTCCTCCGCCCAGAGCGGCCCCCTTGGTACCCGCAGTGATGACACAGGCACTGGCCCCCGGAGGGAGCGACCCAGCCGG
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>GAS2L1|10634|protein
MADPVAGIAGSAAKSVRPFRSSEAYVEAMKEDLAEWLNALYGLGLPGGGDGFLTGLATGTTLCQHANAVTEAARALAAARPARGVAFQAHSVVPGSFMARDNVAT
FIGWCRVELGVPEVLMFETEDLVLRKNEKSVVLCLLEVARRGARLGLLAPRLVQFEQEIERELRAAPPAPNAPAAGEDTTETAPAPGTPARGPRMTPSDLRNLDE
LVREILGRCTCPDQFPMIKVSEGKYRVGDSSLLIFVRVLRSHVMVRVGGGWDTLEHYLDKHDPCRCSSTAHRPPQPRVCTFSPQRVSPTTSPRPASPVPGSERRG
SRPEMTPVSLRSTKEGPETPPRPRDQLPPHPRSRRYSGDSDSSASSAQSGPLGTRSDDTGTGPRRERPSRRLTTGTPASPRRPPALRSQSRDRLDRGRPRGAPGG
RGAQLSVPSPARRARSQSREEQAVLLVRRDRDGQHSWVPRGRGSGGSGRSTPQTPRARSPAAPRLSRVSSPSPELGTTPASIFRTPLQLDPQQEQQLFRRLEEEF
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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
NGS Other Studies Top
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