AutismKB 2.0

Evidence Details for AIF1


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Basic Information Top
Gene Symbol:AIF1 ( AIF-1,IBA1,IRT-1,IRT1 )
Gene Full Name: allograft inflammatory factor 1
Band: 6p21.33
Quick LinksEntrez ID:199; OMIM: 601833; Uniprot ID:AIF1_HUMAN; ENSEMBL ID: ENSG00000204472; HGNC ID: 352
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AIF1|199|nucleotide
ATGAGCCAAACCAGGGATTTACAGGGAGGAAAAGCTTTCGGACTGCTGAAGGCCCAGCAGGAAGAGAGGCTGGATGAGATCAACAAGCAATTCCTAGACGATCCC
AAATATAGCAGTGATGAGGATCTGCCCTCCAAACTGGAAGGCTTCAAAGAGAAATACATGGAGTTTGACCTTAATGGAAATGGCGATATTGATATCATGTCCCTG
AAACGAATGCTGGAGAAACTTGGAGTCCCCAAGACTCACCTAGAGCTAAAGAAATTAATTGGAGAGGTGTCCAGTGGCTCCGGGGAGACGTTCAGCTACCCTGAC
TTTCTCAGGATGATGCTGGGCAAGAGATCTGCCATCCTAAAAATGATCCTGATGTATGAGGAAAAAGCGAGAGAAAAGGAAAAGCCAACAGGCCCCCCAGCCAAG
AAAGCTATCTCTGAGTTGCCCTGA






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>AIF1|199|protein
MSQTRDLQGGKAFGLLKAQQEERLDEINKQFLDDPKYSSDEDLPSKLEGFKEKYMEFDLNGNGDIDIMSLKRMLEKLGVPKTHLELKKLIGEVSSGSGETFSYPD
FLRMMLGKRSAILKMILMYEEKAREKEKPTGPPAKKAISELP



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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top