Table 2 eQTL analysis for the homozygous regions identified specific to autism across samples
Sample type | Category | rsID | SNP position | RDB rank* | RDB Score ** | Ref/Alt | Bound proteins | Affected autism genes (predicted) |
|---|---|---|---|---|---|---|---|---|
Autism Trios using Affymetrix Mapping 250kNSp SNP Array | A1 | rs11104868 | chr12:88828441 | 1d | 0.43 | G/A | CBX3,FOS,BACH1,MYC,JUND, MAFK,POU2F2,RBBP5 ,RUNX3, SMARCA4 | CEP290 |
rs11104939 | chr12:88932363 | 3a | 0.65 | T/C | CEBPB | KITLG | ||
rs12292520 | chr11:48086150 | 2b | 0.51 | G/T | POLR2A | PTPRJ-JAK2 | ||
rs17789481 | chr11:48110042 | 2b | 0.59 | A/G | EP300,FOXA1,GATA3,AR | |||
Autism Trios using Affymetrix Mapping 250k Sty SNP Array | A2 | rs7078127 | chr10:74847633 | 1f | 0.55 | A/C | - | RERE |
rs11866251 | chr16:48227861 | 3a | 1.00 | G/A | EMSY | EMSY | ||
rs16945839 | chr16:48160409 | 3a | 0.78 | C/T | CTCF | CHD8 | ||
Autism cases with Yoruba population genotype as Controls using Affymetrix Mapping 250kNSp SNP Array | B1 | rs1681625 | chr11:48020542 | 2b | 0.40 | A/G | HNF4A,ELF1,HNF4G,MYBL2, NFIC,POLR2A,SP1,SREBF1,CDX2, FOXA1,JUND,USF1,POLR2A,TBP | PTPRJ-JAK2, INS2 |
rs12292520 | chr11:48086150 | 2b | 0.51 | G/T | POLR2A | |||
Autism cases with Yoruba population genotype as Controls using Affymetrix Mapping 250k Sty SNP Array | B2 | rs17051043 | chr3:50693998 | 1d | 0.94 | C/T | GATA2 | EP300 |
rs2675835 | chr3:50862740 | 1f | 0.55 | G/A | - | MAPK3 |