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Table 2 Identified ANXA1 novel variants and SNPs absent in controls

From: Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

Genomic position (hg18) Nucleotide change Amino acid change Location Transcript Novel/SNP Frequency cases Genotype In silico analysis PhastCons (primates)
74956445 G > A 5' of the gene ENST00000257497 Novel1 0.002 Homo TFBS abolished: VDR, CAR, PXR; NF-Y, C-myb, Crx; TFBS created: HNF6, Nkx6-2, OTX, CdxA 0.48
74956718 CTA > Del.CTA Intron 1–2 ENST00000257497 Novel1 0.002 Het - 0.23
74962617 C > T 5'UTR ENST00000376911 rs27951151 0.002 Het - 0.014
74964058 T > C intron 3–4 ENST00000257497 rs101143501 0.002 Het splice-site SNP (ENSEMBL), ISRE down (pfSNP) 0.81
74972178 G > A intron 10–11 ENST00000257497 Novel1 0.005 Het 0.1
74972626 T > G Intron 11–12 ENST00000257497 Novel1 0.002 Het 0.18
74973075 G > C Intron 11–12 ENST00000257497 rs101196051 0.002 Het 0.11
74973545 T > C Intron 11–12 ENST00000257497 Novel1 0.002 Het NA
74975361 G > A 3' (intergenic) Novel 0.002 Het 0.05
74975609 T > A 3' (intergenic) Novel 0.002 Het 0.78
74975645 T > C 3' (intergenic) rs149272288 0.001 Het 0.014
74975873 C > T 3' (intergenic) rs9792653 0.051 Het NA
74975882 C > T 3' (intergenic) rs143327464 0.004 Het NA
74976171 C > T 3' (intergenic) rs113627562 0.004 Het NA
74976222 A > G 3' (intergenic) rs72737044 0.017 Het/Homo 0.18
74976536 C > T 3' (intergenic) Novel 0.001 Het 0.03
74976574 T > C 3' (intergenic) rs78798837 0.002 Het NA
74977215 T > C 3' (intergenic) Novel 0.001 Het 0.006
74977218 C > T 3' (intergenic) rs146061737 0.001 Het 0.003
74977655 A > G 3' (intergenic) rs114240435 0.002 Het 0
74977680 C > A 3' (intergenic) rs114833327 0.001 Het NA
74977840 G > A 3' (intergenic) rs11143512 0.465 Het/Homo NA
74977852 A > G 3' (intergenic) Novel 0.001 Het 0.01
74977888 C > G 3' (intergenic) rs17653109 0.089 Het/Homo 0.07
74977928 C > T 3' (intergenic) rs75260654 0.023 Het NA
74977965 C > G 3' (intergenic) Novel 0.001 Het 0.08
74977981 C > T 3' (intergenic) rs4443724 1 Homo 0.003
74977990 C > T 3' (intergenic) rs116224215 0.007 Het NA
74978003 C > T 3' (intergenic) rs4285546 0.04 Het/Homo 0.003
  1. 1Absent in a panel of 262 control individuals; Homo, homozygous; Het, heterozygous; TFBS, transcription factor binding site; NA, not available.