AutismKB 2.0

Evidence Details for ITGAX


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Basic Information Top
Gene Symbol:ITGAX ( CD11C,SLEB6 )
Gene Full Name: integrin, alpha X (complement component 3 receptor 4 subunit)
Band: 16p11.2
Quick LinksEntrez ID:3687; OMIM: 151510; Uniprot ID:ITAX_HUMAN; ENSEMBL ID: ENSG00000140678; HGNC ID: 6152
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ITGAX|3687|nucleotide
ATGACCAGGACCAGGGCAGCACTCCTCCTGTTCACAGCCTTAGCAACTTCTCTAGGTTTCAACTTGGACACAGAGGAGCTGACAGCCTTCCGTGTGGACAGCGCT
GGGTTTGGAGACAGCGTGGTCCAGTATGCCAACTCCTGGGTGGTGGTTGGAGCCCCCCAAAAGATAACAGCTGCCAACCAAACGGGTGGCCTCTACCAGTGTGGC
TACAGCACTGGTGCCTGTGAGCCCATCGGCCTGCAGGTGCCCCCGGAGGCCGTGAACATGTCCCTGGGCCTGTCCCTGGCGTCTACCACCAGCCCTTCCCAGCTG
CTGGCCTGCGGCCCCACCGTGCACCACGAGTGCGGGAGGAACATGTACCTCACCGGACTCTGCTTCCTCCTGGGCCCCACCCAGCTCACCCAGAGGCTCCCGGTG
TCCAGGCAGGAGTGCCCAAGACAGGAGCAGGACATTGTGTTCCTGATCGATGGCTCAGGCAGCATCTCCTCCCGCAACTTTGCCACGATGATGAACTTCGTGAGA
GCTGTGATAAGCCAGTTCCAGAGACCCAGCACCCAGTTTTCCCTGATGCAGTTCTCCAACAAATTCCAAACACACTTCACTTTCGAGGAATTCAGGCGCAGCTCA
AACCCCCTCAGCCTGTTGGCTTCTGTTCACCAGCTGCAAGGGTTTACATACACGGCCACCGCCATCCAAAATGTCGTGCACCGATTGTTCCATGCCTCATATGGG
GCCCGTAGGGATGCCGCCAAAATTCTCATTGTCATCACTGATGGGAAGAAAGAAGGCGACAGCCTGGATTATAAGGATGTCATCCCCATGGCTGATGCAGCAGGC
ATCATCCGCTATGCAATTGGGGTTGGATTAGCTTTTCAAAACAGAAATTCTTGGAAAGAATTAAATGACATTGCATCGAAGCCCTCCCAGGAACACATATTTAAA
GTGGAGGACTTTGATGCTCTGAAAGATATTCAAAACCAACTGAAGGAGAAGATCTTTGCCATTGAGGGTACGGAGACCACAAGCAGTAGCTCCTTCGAATTGGAG
ATGGCACAGGAGGGCTTCAGCGCTGTGTTCACACCTGATGGCCCCGTTCTGGGGGCTGTGGGGAGCTTCACCTGGTCTGGAGGTGCCTTCCTGTACCCCCCAAAT
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>ITGAX|3687|protein
MTRTRAALLLFTALATSLGFNLDTEELTAFRVDSAGFGDSVVQYANSWVVVGAPQKITAANQTGGLYQCGYSTGACEPIGLQVPPEAVNMSLGLSLASTTSPSQL
LACGPTVHHECGRNMYLTGLCFLLGPTQLTQRLPVSRQECPRQEQDIVFLIDGSGSISSRNFATMMNFVRAVISQFQRPSTQFSLMQFSNKFQTHFTFEEFRRSS
NPLSLLASVHQLQGFTYTATAIQNVVHRLFHASYGARRDAAKILIVITDGKKEGDSLDYKDVIPMADAAGIIRYAIGVGLAFQNRNSWKELNDIASKPSQEHIFK
VEDFDALKDIQNQLKEKIFAIEGTETTSSSSFELEMAQEGFSAVFTPDGPVLGAVGSFTWSGGAFLYPPNMSPTFINMSQENVDMRDSYLGYSTELALWKGVQSL
VLGAPRYQHTGKAVIFTQVSRQWRMKAEVTGTQIGSYFGASLCSVDVDSDGSTDLVLIGAPHYYEQTRGGQVSVCPLPRGWRRWWCDAVLYGEQGHPWGRFGAAL
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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) 2 (5) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (6)
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
Finelli, 2004 - FISHautistic feature - - - - 2 - 2
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top