AutismKB 2.0

Evidence Details for ITGA11


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Basic Information Top
Gene Symbol:ITGA11 ( HsT18964 )
Gene Full Name: integrin, alpha 11
Band: 15q23
Quick LinksEntrez ID:22801; OMIM: 604789; Uniprot ID:ITA11_HUMAN; ENSEMBL ID: ENSG00000137809; HGNC ID: 6136
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ITGA11|22801|nucleotide
ATGGACCTGCCCAGGGGCCTGGTGGTGGCCTGGGCGCTCAGCCTGTGGCCAGGGTTCACGGACACCTTCAACATGGACACCAGGAAGCCCCGGGTCATCCCTGGC
TCCAGGACCGCCTTCTTTGGCTACACAGTGCAGCAGCACGACATCAGTGGCAATAAGTGGCTGGTCGTGGGCGCCCCACTGGAAACCAATGGCTACCAGAAGACG
GGAGACGTGTACAAGTGTCCAGTGATCCACGGGAACTGCACCAAACTCAACCTGGGAAGGGTCACCCTGTCCAACGTGTCCGAGCGGAAAGACAACATGCGCCTC
GGCCTTAGTCTCGCCACCAACCCCAAGGACAACAGCTTCCTGGCCTGCAGCCCCCTCTGGTCTCATGAGTGTGGGAGCTCCTACTACACCACAGGGATGTGTTCA
AGAGTCAACTCCAACTTCAGGTTCTCCAAGACCGTGGCCCCAGCTCTCCAAAGGTGCCAGACCTACATGGACATCGTCATTGTCCTGGATGGCTCCAACAGCATC
TACCCCTGGGTGGAGGTTCAGCACTTCCTCATCAACATCCTGAAAAAGTTTTACATTGGCCCAGGGCAGATCCAGGTTGGAGTTGTGCAGTATGGCGAAGATGTG
GTGCATGAGTTTCACCTCAACGACTACAGGTCTGTAAAAGATGTGGTGGAAGCTGCCAGCCACATTGAGCAGAGAGGAGGAACAGAGACCCGGACGGCATTTGGC
ATTGAATTTGCACGCTCAGAGGCTTTCCAGAAGGGTGGAAGGAAAGGAGCCAAGAAGGTGATGATTGTCATCACAGATGGGGAGTCCCACGACAGCCCAGACCTG
GAGAAGGTGATCCAGCAAAGCGAAAGAGACAACGTAACAAGATATGCGGTGGCCGTCCTGGGCTACTACAACCGCAGGGGGATCAATCCAGAAACTTTTCTAAAT
GAAATCAAATACATCGCCAGTGACCCTGATGACAAGCACTTCTTCAATGTCACTGATGAGGCTGCCTTGAAGGACATTGTCGATGCCCTGGGGGACAGAATCTTC
AGCCTGGAAGGCACCAACAAGAACGAGACCTCCTTTGGGCTGGAGATGTCACAGACGGGCTTTTCCTCGCACGTGGTGGAGGATGGGGTTCTGCTGGGAGCCGTC
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>ITGA11|22801|protein
MDLPRGLVVAWALSLWPGFTDTFNMDTRKPRVIPGSRTAFFGYTVQQHDISGNKWLVVGAPLETNGYQKTGDVYKCPVIHGNCTKLNLGRVTLSNVSERKDNMRL
GLSLATNPKDNSFLACSPLWSHECGSSYYTTGMCSRVNSNFRFSKTVAPALQRCQTYMDIVIVLDGSNSIYPWVEVQHFLINILKKFYIGPGQIQVGVVQYGEDV
VHEFHLNDYRSVKDVVEAASHIEQRGGTETRTAFGIEFARSEAFQKGGRKGAKKVMIVITDGESHDSPDLEKVIQQSERDNVTRYAVAVLGYYNRRGINPETFLN
EIKYIASDPDDKHFFNVTDEAALKDIVDALGDRIFSLEGTNKNETSFGLEMSQTGFSSHVVEDGVLLGAVGAYDWNGAVLKETSAGKVIPLRESYLKEFPEELKN
HGAYLGYTVTSVVSSRQGRVYVAGAPRFNHTGKVILFTMHNNRSLTIHQAMRGQQIGSYFGSEITSVDIDGDGVTDVLLVGAPMYFNEGRERGKVYVYELRQNLF
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 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
Smith, 2000 - FISHautism - - - - 1 - 1
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.
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.

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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