Home / Gene
ABCB11
receptor: FXRTier 1
CAMIP Tier 1: peak-anchored panel
FXR
Submitted decision (verbatim): 需修訂
Reviewer revision (verbatim)
Reduced FXR/RXRα binding impairs receptor-mediated transactivation of ABCB11, reducing BSEP expression and thereby limiting adaptive increases in canalicular ATP-dependent bile salt export. Under increased bile salt load, this impaired inducibility may promote intracellular bile salt accumulation and increase susceptibility to drug-induced cholestatic liver injury.
Prior explanatory context
Retained explanatory context, not the pharmacist's submitted wording. The submitted review above takes precedence; this context is not a replacement for the reviewer's revision or notes.
- Inducer
- Obeticholic acid; Experimental GW4064
- Regulatory element
- overlapping TSS
- Predicted consequence
- Disrupted receptor-mediated transactivation via the FXR/RXRα heterodimer, abolishing the critical canalicular expression of the Bile Salt Export Pump. This directly cripples the ATP-dependent rate-limiting step of hepatic bile acid elimination, precipitating toxic intracellular bile salt accumulation and rendering hepatocytes profoundly vulnerable to severe drug-induced cholestatic liver injury under medications such as bosentan and cyclosporine.
- Prior narrative
- Disrupted receptor-mediated transactivation via the FXR/RXRα heterodimer, abolishing the critical canalicular expression of the Bile Salt Export Pump. This directly cripples the ATP-dependent rate-limiting step of hepatic bile acid elimination, precipitating toxic intracellular bile salt accumulation and rendering hepatocytes profoundly vulnerable to severe drug-induced cholestatic liver injury under medications such as bosentan and cyclosporine.
- Drug context
- bosentan; cyclosporine; estrogens
Scored variants near ABCB11
chr2:168,820,780..169,131,324, gene body plus 100 kb. Showing the strongest 200 by effect size.
| Variant | Position | PXR | FXR | AhR | AF |
|---|---|---|---|---|---|
| chr2_169031334_A_G | chr2:169031334 | 1.000 | 1.000 | 0.959 | — |
| chr2_169031340_A_G | chr2:169031340 | 1.000 | 1.000 | 0.953 | — |
| chr2_169031312_T_A | chr2:169031312 | 0.581 | 1.000 | 1.000 | — |
| chr2_169031342_T_C | chr2:169031342 | 0.820 | 0.985 | 0.747 | — |
| chr2_169031312_T_G | chr2:169031312 | 0.509 | 0.915 | 1.000 | — |
| chr2_169031317_A_G | chr2:169031317 | 0.549 | 0.723 | 0.482 | — |
| chr2_169031343_C_G | chr2:169031343 | 0.491 | 0.543 | 0.556 | — |
| chr2_169031315_T_G | chr2:169031315 | 0.468 | 0.751 | 0.694 | — |
| chr2_169031224_C_G | chr2:169031224 | -0.409 | -0.602 | -0.618 | — |
| chr2_169031254_G_T | chr2:169031254 | 0.408 | 0.485 | 0.288 | — |
| chr2_169031341_T_G | chr2:169031341 | 0.408 | 0.609 | 0.318 | — |
| chr2_169031224_C_A | chr2:169031224 | -0.404 | -0.580 | -0.662 | — |
| chr2_169031223_A_C | chr2:169031223 | -0.363 | -0.508 | -0.671 | — |
| chr2_169031326_A_T | chr2:169031326 | -0.374 | -0.546 | -0.529 | — |
| chr2_169031282_A_C | chr2:169031282 | 0.366 | 0.561 | 0.300 | — |
| chr2_169031338_G_T | chr2:169031338 | -0.359 | -0.548 | -0.412 | — |
| chr2_169031225_C_A | chr2:169031225 | -0.353 | -0.503 | -0.456 | — |
| chr2_169031223_A_T | chr2:169031223 | -0.351 | -0.472 | -0.600 | — |
| chr2_169031288_T_C | chr2:169031288 | -0.279 | -0.491 | -0.612 | — |
| chr2_169031308_T_C | chr2:169031308 | 0.344 | 0.492 | 0.318 | — |
| chr2_169031288_T_A | chr2:169031288 | -0.286 | -0.475 | -0.597 | — |
| chr2_169031290_T_C | chr2:169031290 | -0.333 | -0.645 | -0.506 | — |
| chr2_169031315_T_C | chr2:169031315 | -0.329 | -0.503 | -0.538 | — |
| chr2_169031314_T_C | chr2:169031314 | -0.317 | -0.518 | -0.453 | — |
| chr2_169031312_T_C | chr2:169031312 | 0.307 | 0.418 | 0.506 | — |
| chr2_169031295_A_T | chr2:169031295 | -0.196 | -0.322 | -0.509 | — |
| chr2_169031313_T_C | chr2:169031313 | -0.271 | -0.426 | -0.506 | — |
| chr2_169031224_C_T | chr2:169031224 | -0.285 | -0.475 | -0.482 | — |
| chr2_169031292_A_G | chr2:169031292 | 0.278 | 0.551 | 0.429 | — |
| chr2_169031294_A_T | chr2:169031294 | -0.210 | -0.487 | -0.488 | — |
| chr2_169031336_C_G | chr2:169031336 | -0.271 | -0.346 | -0.474 | — |
| chr2_169031338_G_A | chr2:169031338 | -0.269 | -0.358 | -0.265 | — |
| chr2_169031291_C_T | chr2:169031291 | -0.225 | -0.429 | -0.471 | — |
| chr2_169031289_T_A | chr2:169031289 | -0.218 | -0.462 | -0.462 | — |
| chr2_169031302_C_G | chr2:169031302 | 0.260 | 0.513 | 0.418 | — |
| chr2_169031336_C_A | chr2:169031336 | -0.223 | -0.227 | -0.447 | — |
| chr2_169031262_G_C | chr2:169031262 | 0.246 | 0.272 | 0.235 | — |
| chr2_169031223_A_G | chr2:169031223 | -0.245 | -0.350 | -0.397 | — |
| chr2_169031194_G_C | chr2:169031194 | 0.243 | 0.256 | 0.156 | — |
| chr2_169031308_T_G | chr2:169031308 | 0.243 | 0.447 | 0.406 | — |
| chr2_169031340_A_T | chr2:169031340 | 0.243 | 0.282 | 0.288 | — |
| chr2_169031296_C_A | chr2:169031296 | -0.150 | -0.308 | -0.426 | — |
| chr2_169031254_G_C | chr2:169031254 | 0.240 | 0.277 | 0.176 | — |
| chr2_169031334_A_T | chr2:169031334 | -0.235 | -0.322 | -0.288 | — |
| chr2_169031293_C_G | chr2:169031293 | -0.166 | -0.431 | -0.412 | — |
| chr2_169031294_A_G | chr2:169031294 | -0.137 | -0.360 | -0.412 | — |
| chr2_169031333_G_T | chr2:169031333 | -0.230 | -0.327 | -0.294 | — |
| chr2_169031291_C_G | chr2:169031291 | -0.177 | -0.381 | -0.406 | — |
| chr2_169031325_A_T | chr2:169031325 | -0.229 | -0.299 | -0.324 | — |
| chr2_169031317_A_T | chr2:169031317 | -0.228 | -0.315 | -0.329 | — |
| chr2_169031288_T_G | chr2:169031288 | -0.139 | -0.273 | -0.397 | — |
| chr2_169031306_C_T | chr2:169031306 | -0.220 | -0.355 | -0.315 | — |
| chr2_169031331_C_A | chr2:169031331 | -0.199 | -0.264 | -0.382 | — |
| chr2_169031309_C_T | chr2:169031309 | -0.214 | -0.321 | -0.276 | — |
| chr2_169031226_T_C | chr2:169031226 | -0.213 | -0.272 | -0.212 | — |
| chr2_169031226_T_A | chr2:169031226 | -0.211 | -0.297 | -0.182 | — |
| chr2_169031329_C_A | chr2:169031329 | -0.211 | -0.264 | -0.226 | — |
| chr2_169031225_C_T | chr2:169031225 | -0.210 | -0.305 | -0.182 | — |
| chr2_169031341_T_A | chr2:169031341 | 0.210 | 0.145 | 0.235 | — |
| chr2_169031324_T_C | chr2:169031324 | 0.202 | 0.297 | 0.135 | — |
| chr2_169031198_T_G | chr2:169031198 | -0.195 | -0.218 | -0.153 | — |
| chr2_169031290_T_G | chr2:169031290 | 0.193 | 0.246 | 0.200 | — |
| chr2_169031291_C_A | chr2:169031291 | -0.153 | -0.350 | -0.341 | — |
| chr2_169031336_C_T | chr2:169031336 | -0.191 | -0.237 | -0.303 | — |
| chr2_169031343_C_A | chr2:169031343 | -0.186 | -0.192 | -0.250 | — |
| chr2_169031322_T_A | chr2:169031322 | 0.184 | 0.223 | 0.188 | — |
| chr2_169031184_A_C | chr2:169031184 | 0.183 | 0.175 | 0.265 | — |
| chr2_169031270_C_T | chr2:169031270 | -0.183 | -0.239 | -0.129 | — |
| chr2_169031292_A_T | chr2:169031292 | -0.178 | -0.332 | -0.324 | — |
| chr2_169031289_T_C | chr2:169031289 | -0.107 | -0.284 | -0.321 | — |
| chr2_169031342_T_A | chr2:169031342 | 0.181 | 0.211 | 0.206 | — |
| chr2_169031304_A_C | chr2:169031304 | -0.180 | -0.250 | -0.253 | — |
| chr2_169031320_A_C | chr2:169031320 | -0.170 | -0.299 | -0.315 | — |
| chr2_169031294_A_C | chr2:169031294 | -0.125 | -0.348 | -0.312 | — |
| chr2_169031321_T_A | chr2:169031321 | -0.168 | -0.330 | -0.303 | — |
| chr2_169031260_A_T | chr2:169031260 | 0.168 | 0.137 | 0.141 | — |
| chr2_169031296_C_G | chr2:169031296 | -0.110 | -0.193 | -0.294 | — |
| chr2_169031313_T_A | chr2:169031313 | -0.146 | -0.228 | -0.291 | — |
| chr2_169031314_T_A | chr2:169031314 | -0.056 | -0.279 | -0.291 | — |
| chr2_169031309_C_A | chr2:169031309 | -0.162 | -0.299 | -0.194 | — |
| chr2_169031289_T_G | chr2:169031289 | -0.133 | -0.317 | -0.285 | — |
| chr2_169031225_C_G | chr2:169031225 | -0.158 | -0.223 | -0.038 | — |
| chr2_169031323_C_A | chr2:169031323 | -0.146 | -0.249 | -0.279 | — |
| chr2_169031339_A_G | chr2:169031339 | 0.157 | 0.190 | 0.194 | — |
| chr2_169031290_T_A | chr2:169031290 | 0.153 | 0.168 | 0.182 | — |
| chr2_169031293_C_A | chr2:169031293 | -0.136 | -0.292 | -0.271 | — |
| chr2_169031327_A_T | chr2:169031327 | -0.137 | -0.150 | -0.271 | — |
| chr2_169031176_T_A | chr2:169031176 | 0.151 | 0.132 | 0.103 | — |
| chr2_169031267_C_G | chr2:169031267 | 0.151 | 0.218 | 0.259 | — |
| chr2_169031178_A_C | chr2:169031178 | 0.150 | 0.168 | 0.121 | — |
| chr2_169031226_T_G | chr2:169031226 | -0.150 | -0.168 | -0.141 | — |
| chr2_169031295_A_C | chr2:169031295 | -0.123 | -0.254 | -0.265 | — |
| chr2_169031327_A_G | chr2:169031327 | -0.150 | -0.151 | -0.221 | — |
| chr2_169031329_C_G | chr2:169031329 | -0.150 | -0.185 | -0.179 | — |
| chr2_169031332_T_A | chr2:169031332 | -0.125 | -0.272 | -0.265 | — |
| chr2_169031310_G_A | chr2:169031310 | -0.149 | -0.231 | -0.176 | — |
| chr2_169031278_A_G | chr2:169031278 | 0.145 | 0.175 | 0.212 | — |
| chr2_169031324_T_G | chr2:169031324 | 0.141 | 0.251 | 0.229 | — |
| chr2_169031279_G_C | chr2:169031279 | -0.140 | -0.155 | -0.185 | — |
| chr2_169031292_A_C | chr2:169031292 | -0.140 | -0.310 | -0.241 | — |
| chr2_169031197_T_C | chr2:169031197 | -0.136 | -0.061 | 0.091 | — |
| chr2_169031305_A_T | chr2:169031305 | -0.136 | -0.206 | -0.229 | — |
| chr2_169031308_T_A | chr2:169031308 | 0.123 | 0.160 | 0.241 | — |
| chr2_169031264_A_C | chr2:169031264 | -0.136 | -0.152 | -0.024 | — |
| chr2_169031316_C_A | chr2:169031316 | 0.133 | 0.028 | 0.076 | — |
| chr2_169031332_T_G | chr2:169031332 | -0.126 | -0.236 | -0.235 | — |
| chr2_169031311_G_A | chr2:169031311 | -0.131 | -0.140 | -0.165 | — |
| chr2_169031306_C_A | chr2:169031306 | -0.131 | -0.236 | -0.165 | — |
| chr2_169031222_T_G | chr2:169031222 | -0.118 | -0.259 | -0.229 | — |
| chr2_169031316_C_T | chr2:169031316 | -0.076 | -0.256 | -0.229 | — |
| chr2_169031335_A_C | chr2:169031335 | 0.127 | 0.208 | 0.194 | — |
| chr2_169031171_A_C | chr2:169031171 | 0.126 | 0.102 | 0.115 | — |
| chr2_169031315_T_A | chr2:169031315 | 0.126 | 0.170 | 0.118 | — |
| chr2_169031337_A_C | chr2:169031337 | 0.126 | 0.165 | 0.065 | — |
| chr2_169031179_A_C | chr2:169031179 | 0.125 | 0.063 | 0.079 | — |
| chr2_169031335_A_T | chr2:169031335 | -0.125 | -0.190 | -0.200 | — |
| chr2_169031188_G_T | chr2:169031188 | -0.111 | -0.124 | -0.218 | — |
| chr2_169031313_T_G | chr2:169031313 | -0.087 | -0.178 | -0.218 | — |
| chr2_169031318_T_C | chr2:169031318 | -0.123 | -0.218 | -0.124 | — |
| chr2_169031311_G_C | chr2:169031311 | -0.122 | -0.174 | -0.176 | — |
| chr2_169031307_C_T | chr2:169031307 | -0.101 | -0.175 | -0.215 | — |
| chr2_169031295_A_G | chr2:169031295 | -0.034 | -0.162 | -0.212 | — |
| chr2_169031339_A_C | chr2:169031339 | 0.120 | 0.180 | 0.053 | — |
| chr2_169031326_A_G | chr2:169031326 | 0.119 | 0.155 | 0.106 | — |
| chr2_169031326_A_C | chr2:169031326 | 0.117 | 0.157 | 0.153 | — |
| chr2_169031260_A_C | chr2:169031260 | 0.116 | 0.094 | 0.124 | — |
| chr2_169031227_G_C | chr2:169031227 | -0.115 | -0.129 | -0.118 | — |
| chr2_169031266_T_C | chr2:169031266 | -0.115 | -0.178 | -0.100 | — |
| chr2_169008089_G_T | chr2:169008089 | -0.114 | 0.041 | 0.115 | — |
| chr2_169031287_G_T | chr2:169031287 | -0.035 | -0.109 | -0.200 | — |
| chr2_169031317_A_C | chr2:169031317 | -0.112 | -0.223 | -0.159 | — |
| chr2_169031172_A_C | chr2:169031172 | 0.111 | 0.094 | 0.112 | — |
| chr2_169031241_G_T | chr2:169031241 | 0.111 | 0.112 | 0.150 | — |
| chr2_169031276_A_T | chr2:169031276 | -0.111 | -0.185 | 0.041 | — |
| chr2_169008129_G_C | chr2:169008129 | 0.058 | -0.046 | -0.196 | — |
| chr2_169031258_T_C | chr2:169031258 | -0.110 | -0.091 | 0.006 | — |
| chr2_169031263_G_C | chr2:169031263 | 0.092 | 0.142 | 0.194 | — |
| chr2_169031302_C_T | chr2:169031302 | -0.109 | -0.122 | -0.141 | — |
| chr2_169031304_A_T | chr2:169031304 | -0.107 | -0.169 | -0.141 | — |
| chr2_169031323_C_T | chr2:169031323 | -0.107 | -0.147 | -0.138 | — |
| chr2_169031194_G_T | chr2:169031194 | 0.106 | 0.109 | 0.041 | — |
| chr2_169031307_C_G | chr2:169031307 | -0.069 | -0.084 | -0.188 | — |
| chr2_169031232_T_G | chr2:169031232 | -0.085 | -0.107 | -0.185 | — |
| chr2_169031337_A_T | chr2:169031337 | 0.104 | 0.127 | 0.082 | — |
| chr2_169031299_T_C | chr2:169031299 | -0.101 | -0.162 | -0.182 | — |
| chr2_169031330_A_G | chr2:169031330 | 0.103 | 0.142 | 0.076 | — |
| chr2_169031247_G_T | chr2:169031247 | 0.101 | 0.119 | 0.050 | — |
| chr2_169031301_T_C | chr2:169031301 | 0.101 | 0.175 | 0.147 | — |
| chr2_169031307_C_A | chr2:169031307 | -0.097 | -0.155 | -0.179 | — |
| chr2_169031245_A_C | chr2:169031245 | 0.100 | 0.119 | 0.091 | — |
| chr2_169031267_C_A | chr2:169031267 | 0.100 | 0.084 | 0.124 | — |
| chr2_169031333_G_C | chr2:169031333 | -0.077 | -0.124 | -0.176 | — |
| chr2_169008119_T_A | chr2:169008119 | 0.099 | 0.063 | -0.006 | — |
| chr2_169031311_G_T | chr2:169031311 | -0.099 | -0.110 | -0.144 | — |
| chr2_169031216_G_T | chr2:169031216 | 0.098 | 0.114 | 0.109 | — |
| chr2_169031298_T_C | chr2:169031298 | -0.097 | -0.140 | -0.059 | — |
| chr2_169031194_G_A | chr2:169031194 | 0.097 | 0.102 | -0.003 | — |
| chr2_169031231_A_C | chr2:169031231 | -0.097 | -0.086 | -0.041 | — |
| chr2_169031259_A_G | chr2:169031259 | -0.097 | -0.142 | -0.079 | — |
| chr2_169031280_T_A | chr2:169031280 | -0.033 | -0.119 | -0.171 | — |
| chr2_169031284_A_G | chr2:169031284 | -0.085 | -0.102 | -0.171 | — |
| chr2_169031330_A_C | chr2:169031330 | 0.096 | 0.211 | 0.171 | — |
| chr2_169031186_G_C | chr2:169031186 | 0.095 | 0.071 | 0.065 | — |
| chr2_169031298_T_A | chr2:169031298 | -0.095 | -0.162 | -0.112 | — |
| chr2_169031325_A_G | chr2:169031325 | 0.094 | 0.147 | 0.112 | — |
| chr2_169031227_G_T | chr2:169031227 | -0.093 | -0.071 | -0.100 | — |
| chr2_169031235_G_T | chr2:169031235 | 0.093 | 0.104 | 0.094 | — |
| chr2_169031241_G_C | chr2:169031241 | 0.093 | 0.152 | 0.138 | — |
| chr2_169031252_A_C | chr2:169031252 | -0.093 | -0.145 | -0.082 | — |
| chr2_169031263_G_T | chr2:169031263 | 0.087 | 0.157 | 0.165 | — |
| chr2_169031278_A_C | chr2:169031278 | -0.093 | -0.119 | -0.018 | — |
| chr2_169031173_G_A | chr2:169031173 | 0.092 | 0.129 | 0.006 | — |
| chr2_169031227_G_A | chr2:169031227 | -0.092 | -0.094 | -0.079 | — |
| chr2_169031244_G_A | chr2:169031244 | 0.092 | 0.089 | 0.082 | — |
| chr2_169031244_G_C | chr2:169031244 | 0.092 | 0.107 | 0.118 | — |
| chr2_169031176_T_G | chr2:169031176 | 0.090 | 0.084 | 0.094 | — |
| chr2_169031180_A_T | chr2:169031180 | -0.090 | -0.114 | -0.082 | — |
| chr2_169031287_G_A | chr2:169031287 | 0.090 | 0.195 | 0.159 | — |
| chr2_169031293_C_T | chr2:169031293 | -0.043 | -0.109 | -0.159 | — |
| chr2_169008140_T_G | chr2:169008140 | -0.088 | 0.005 | -0.004 | — |
| chr2_169031239_T_C | chr2:169031239 | 0.088 | 0.124 | 0.062 | — |
| chr2_169031299_T_G | chr2:169031299 | 0.088 | 0.023 | 0.071 | — |
| chr2_169008089_G_A | chr2:169008089 | -0.087 | 0.018 | 0.047 | — |
| chr2_169031318_T_G | chr2:169031318 | -0.086 | -0.137 | -0.124 | — |
| chr2_169031174_A_C | chr2:169031174 | 0.085 | 0.053 | 0.094 | — |
| chr2_169031251_G_T | chr2:169031251 | -0.072 | -0.114 | -0.150 | — |
| chr2_169031283_A_T | chr2:169031283 | -0.085 | -0.122 | -0.135 | — |
| chr2_169008120_C_T | chr2:169008120 | 0.084 | 0.015 | -0.078 | — |
| chr2_169008090_A_T | chr2:169008090 | -0.083 | 0.010 | 0.082 | — |
| chr2_169031177_T_G | chr2:169031177 | 0.083 | 0.069 | 0.097 | — |
| chr2_169031200_G_T | chr2:169031200 | 0.083 | 0.066 | -0.032 | — |
| chr2_169031220_C_A | chr2:169031220 | -0.083 | -0.165 | -0.018 | — |
| chr2_169031220_C_T | chr2:169031220 | 0.038 | 0.010 | 0.147 | — |
| chr2_169031236_A_C | chr2:169031236 | 0.012 | 0.046 | 0.147 | — |
| chr2_169031304_A_G | chr2:169031304 | 0.083 | 0.193 | 0.109 | — |
| chr2_169031167_A_C | chr2:169031167 | 0.082 | 0.043 | 0.100 | — |
| chr2_169031173_G_C | chr2:169031173 | 0.082 | 0.061 | 0.041 | — |
| chr2_169031278_A_T | chr2:169031278 | -0.082 | -0.081 | -0.053 | — |
| chr2_169031320_A_G | chr2:169031320 | -0.047 | -0.122 | -0.144 | — |
| chr2_169031303_C_T | chr2:169031303 | 0.081 | 0.122 | 0.088 | — |
Showing 200 of 200 in this window. Scores are the p99-scaled [−1, 1] value; click a column to sort.