AutismKB 2.0

Evidence Details for ITGAL


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Basic Information Top
Gene Symbol:ITGAL ( CD11A,LFA-1,LFA1A )
Gene Full Name: integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)
Band: 16p11.2
Quick LinksEntrez ID:3683; OMIM: 153370; Uniprot ID:ITAL_HUMAN; ENSEMBL ID: ENSG00000005844; HGNC ID: 6148
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ITGAL|3683|nucleotide
ATGAAGGATTCCTGCATCACTGTGATGGCCATGGCGCTGCTGTCTGGGTTCTTTTTCTTCGCGCCGGCCTCGAGCTACAACCTGGACGTGCGGGGCGCGCGGAGC
TTCTCCCCACCGCGCGCCGGGAGGCACTTTGGATACCGCGTCCTGCAGGTCGGAAACGGGGTCATCGTGGGAGCTCCAGGGGAGGGGAACAGCACAGGAAGCCTC
TATCAGTGCCAGTCGGGCACAGGACACTGCCTGCCAGTCACCCTGAGAGGTTCCAACTATACCTCCAAGTACTTGGGAATGACCTTGGCAACAGACCCCACAGAT
GGAAGCATTTTGTTTGCTGCTGTTCAGTTTTCCACAAGCTACAAAACAGAATTTGATTTCTCAGATTATGTTAAACGGAAGGACCCTGATGCTCTGCTGAAGCAT
GTAAAGCACATGTTGCTGTTGACCAATACCTTTGGTGCCATCAATTATGTCGCGACAGAGGTGTTCCGGGAGGAGCTGGGGGCCCGGCCAGATGCCACCAAAGTG
CTTATCATCATCACGGATGGGGAGGCCACTGACAGTGGCAACATCGATGCGGCCAAAGACATCATCCGCTACATCATCGGGATTGGAAAGCATTTTCAGACCAAG
GAGAGTCAGGAGACCCTCCACAAATTTGCATCAAAACCCGCGAGCGAGTTTGTGAAAATTCTGGACACATTTGAGAAGCTGAAAGATCTATTCACTGAGCTGCAG
AAGAAGATCTATGTCATTGAGGGCACAAGCAAACAGGACCTGACTTCCTTCAACATGGAGCTGTCCTCCAGCGGCATCAGTGCTGACCTCAGCAGGGGCCATGCA
GTCGTGGGGGCAGTAGGAGCCAAGGACTGGGCTGGGGGCTTTCTTGACCTGAAGGCAGACCTGCAGGATGACACATTTATTGGGAATGAACCATTGACACCAGAA
GTGAGAGCAGGCTATTTGGGTTACACCGTGACCTGGCTGCCCTCCCGGCAAAAGACTTCGTTGCTGGCCTCGGGAGCCCCTCGATACCAGCACATGGGCCGAGTG
CTGCTGTTCCAAGAGCCACAGGGCGGAGGACACTGGAGCCAGGTCCAGACAATCCATGGGACCCAGATTGGCTCTTATTTCGGTGGGGAGCTGTGTGGCGTCGAC
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>ITGAL|3683|protein
MKDSCITVMAMALLSGFFFFAPASSYNLDVRGARSFSPPRAGRHFGYRVLQVGNGVIVGAPGEGNSTGSLYQCQSGTGHCLPVTLRGSNYTSKYLGMTLATDPTD
GSILFAAVQFSTSYKTEFDFSDYVKRKDPDALLKHVKHMLLLTNTFGAINYVATEVFREELGARPDATKVLIIITDGEATDSGNIDAAKDIIRYIIGIGKHFQTK
ESQETLHKFASKPASEFVKILDTFEKLKDLFTELQKKIYVIEGTSKQDLTSFNMELSSSGISADLSRGHAVVGAVGAKDWAGGFLDLKADLQDDTFIGNEPLTPE
VRAGYLGYTVTWLPSRQKTSLLASGAPRYQHMGRVLLFQEPQGGGHWSQVQTIHGTQIGSYFGGELCGVDVDQDGETELLLIGAPLFYGEQRGGRVFIYQRRQLG
FEEVSELQGDPGYPLGRFGEAITALTDINGDGLVDVAVGAPLEEQGAVYIFNGRHGGLSPQPSQRIEGTQVLSGIQWFGRSIHGVKDLEGDGLADVAVGAESQMI
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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 (4) 0 (0) 0 (0) 0 (0) 0 (2) 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
Linkage Studies Top