AutismKB 2.0

Evidence Details for MEGF11


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Basic Information Top
Gene Symbol:MEGF11 ( DKFZp434L121,KIAA1781 )
Gene Full Name: multiple EGF-like-domains 11
Band: 15q22.31
Quick LinksEntrez ID:84465; OMIM: 612454; Uniprot ID:MEG11_HUMAN; ENSEMBL ID: ENSG00000157890; HGNC ID: 29635
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MEGF11|84465|nucleotide
ATGGTGCTCTCCCTGACGGGGCTCATTGCCTTCTCCTTCCTGCAAGCCACCCTTGCCCTGAACCCCGAGGACCCCAACGTGTGCAGCCACTGGGAGAGCTATGCT
GTGACTGTCCAGGAATCGTATGCACACCCCTTCGATCAGATCTATTACACACGATGCACAGACATCCTCAACTGGTTCAAGTGCACCAGGCACCGGATCAGTTAT
AAGACGGCGTATCGGAGAGGCCTCCGGACCATGTACCGGCGGAGGTCCCAGTGCTGCCCTGGCTACTATGAGAGCGGAGACTTCTGCATACCCCTGTGTACGGAG
GAGTGTGTGCACGGCCGCTGCGTTTCCCCGGACACCTGCCACTGCGAGCCTGGCTGGGGAGGGCCCGACTGCTCCAGCGGCTGCGACAGCGACCACTGGGGGCCC
CACTGCAGCAACCGGTGCCAGTGCCAGAACGGCGCCCTGTGTAACCCCATCACAGGCGCCTGCGTGTGCGCCGCCGGCTTCCGTGGATGGCGCTGCGAGGAGCTC
TGCGCACCTGGCACCCACGGCAAGGGATGCCAGCTGCCGTGCCAGTGCCGACACGGTGCCAGCTGCGACCCCCGCGCCGGCGAGTGCCTCTGCGCACCTGGCTAC
ACCGGCGTCTACTGCGAGGAGCTGTGCCCTCCTGGGAGCCATGGAGCTCACTGTGAGCTGCGCTGCCCCTGTCAGAATGGGGGCACCTGCCACCACATCACTGGC
GAGTGTGCCTGCCCCCCAGGCTGGACGGGAGCAGTGTGTGCCCAGCCCTGCCCACCAGGGACATTTGGCCAGAACTGCAGCCAGGATTGTCCTTGCCACCATGGA
GGGCAGTGTGACCACGTGACTGGACAGTGCCACTGTACAGCTGGATACATGGGGGACAGGTGCCAAGAGGAGTGCCCCTTCGGGTCCTTCGGCTTCCAGTGCTCA
CAGCACTGTGACTGCCACAATGGGGGGCAGTGTTCACCCACCACGGGTGCCTGCGAGTGTGAGCCTGGCTACAAGGGCCCACGCTGCCAGGAGCGACTGTGCCCG
GAGGGCCTGCATGGCCCAGGCTGCACCCTGCCCTGCCCCTGTGACGCTGACAACACCATCAGCTGCCACCCAGTAACTGGAGCTTGTACCTGCCAGCCAGGCTGG
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>MEGF11|84465|protein
MVLSLTGLIAFSFLQATLALNPEDPNVCSHWESYAVTVQESYAHPFDQIYYTRCTDILNWFKCTRHRISYKTAYRRGLRTMYRRRSQCCPGYYESGDFCIPLCTE
ECVHGRCVSPDTCHCEPGWGGPDCSSGCDSDHWGPHCSNRCQCQNGALCNPITGACVCAAGFRGWRCEELCAPGTHGKGCQLPCQCRHGASCDPRAGECLCAPGY
TGVYCEELCPPGSHGAHCELRCPCQNGGTCHHITGECACPPGWTGAVCAQPCPPGTFGQNCSQDCPCHHGGQCDHVTGQCHCTAGYMGDRCQEECPFGSFGFQCS
QHCDCHNGGQCSPTTGACECEPGYKGPRCQERLCPEGLHGPGCTLPCPCDADNTISCHPVTGACTCQPGWSGHHCNESCPVGYYGDGCQLPCTCQNGADCHSITG
GCTCAPGFMGEVCAVSCAAGTYGPNCSSICSCNNGGTCSPVDGSCTCKEGWQGLDCTLPCPSGTWGLNCNESCTCANGAACSPIDGSCSCTPGWLGDTCELPCPD
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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 (3) 0 (0) 0 (0) 0 (0) 0 (3) 0 (2) 0 (0) 0 (0) 2 (8)
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
Smith, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
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
Sanders SJ, 2012 - 238 172 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
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
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
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