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