| Gene Symbol | PJA1 |
|---|---|
| Entrez Id | 64219 |
| Position | chrX:68380581..68385365 |
| Description | praja ring finger 1, E3 ubiquitin protein ligase |
| Gene type | protein-coding |
| SNP | Position | Alelle | Gene | Annotation | Info | Or | Se | P-value | eQTL | Score* |
|---|---|---|---|---|---|---|---|---|---|---|
| rs113433731 | 0:68383684 | A/G | PJA1 | intron | 1.300 | 1.04530 | 0.0283 | 0.1174 | 5 | |
| rs138056393 | 0:68384331 | T/C | PJA1 | intron | 0.697 | 0.99820 | 0.1253 | 0.9882 | - | |
| rs147767754 | 0:68384092 | A/G | PJA1 | intron | 0.963 | 0.99164 | 0.0520 | 0.8723 | - | |
| rs4844165 | 0:68384227 | A/G | PJA1 | intron | 1.380 | 1.00100 | 0.0120 | 0.9362 | 5 | |
| rs5937160 | 0:68381787 | T/C | PJA1 | missense | 1.340 | 1.06940 | 0.0107 | 4.27E-10 | 7 | |
| rs6624385 | 0:68384125 | T/C | PJA1 | intron | 1.410 | 0.95839 | 0.0094 | 6.349E-6 | 5 | |
| rs7067170 | 0:68382836 | A/G | PJA1 | coding-synon | 1.340 | 1.07058 | 0.0107 | 2.195E-10 | 5 | |
| rs73222545 | 0:68385511 | C/G | PJA1 | near-gene-5 | 1.150 | 1.01582 | 0.0120 | 0.1922 | 4 | |
| SNP | Position | Alelle | Gene | Annotation | Info | Or | Se | P-value | eQTL | Score* |
| score | supporting data | score | supporting data |
|---|---|---|---|
| 1a | eQTL + TF binding + matched TF motif + matched DNase Footprint + DNase peak | 6 | other |
| 2a | TF binding + matched TF motif + matched DNase Footprint + DNase peak | 5 | TF binding or DNase peak |
| 1b | eQTL + TF binding + any motif + DNase Footprint + DNase peak | 4 | TF binding + DNase peak |
| 2b | TF binding + any motif + DNase Footprint + DNase peak | 3b | TF binding + matched TF motif |
| 1c | eQTL + TF binding + matched TF motif + DNase peak | 1f | eQTL + TF binding / DNase peak |
| 2c | TF binding + matched TF motif + DNase peak | 3a | TF binding + any motif + DNase peak |
| 1d | eQTL + TF binding + any motif + DNase peak | 1e | eQTL + TF binding + matched TF motif |
The gene is not affected by CNV!