Home / Gene
ABCB4
receptor: FXRTier 1
CAMIP Tier 1: peak-anchored panel
FXR
Submitted decision (verbatim): 需修訂
Reviewer revision (verbatim)
Blunted receptor-mediated induction of ABCB4 expression may limit adaptive increases in ATP-dependent phospholipid translocation across the canalicular membrane of hepatocytes, reducing biliary phospholipid secretion and phospholipid-dependent buffering of bile salts.
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
- at promoter -6485 bp
- Predicted consequence
- Disrupted receptor-mediated transactivation via the FXR/RXRα heterodimer, impairing the coordinated up-regulation of ABCB4. This leads to a deficiency in ATP-dependent phospholipid translocation across the canalicular membrane of hepatocytes, decreasing biliary phospholipid secretion and increasing the physiological susceptibility to intrahepatic cholestasis and gallstone formation.
- Prior narrative
- Disrupted receptor-mediated transactivation via the FXR/RXRα heterodimer, impairing the coordinated up-regulation of ABCB4. This leads to a deficiency in ATP-dependent phospholipid translocation across the canalicular membrane of hepatocytes, decreasing biliary phospholipid secretion and increasing the physiological susceptibility to intrahepatic cholestasis and gallstone formation.
- Drug context
- imatinib; anthracyclines and related substances
Scored variants near ABCB4
chr7:87,301,695..87,575,703, gene body plus 100 kb. Showing the strongest 200 by effect size.
| Variant | Position | PXR | FXR | AhR | AF |
|---|---|---|---|---|---|
| chr7_87463645_A_C | chr7:87463645 | 0.434 | 0.594 | 0.488 | — |
| chr7_87463682_A_C | chr7:87463682 | 0.215 | 0.277 | 0.241 | — |
| chr7_87464039_A_G | chr7:87464039 | -0.213 | -0.320 | -0.176 | — |
| chr7_87463678_C_A | chr7:87463678 | 0.176 | 0.299 | 0.188 | — |
| chr7_87463645_A_T | chr7:87463645 | 0.163 | 0.239 | 0.200 | — |
| chr7_87463649_A_C | chr7:87463649 | -0.120 | -0.150 | -0.138 | — |
| chr7_87463649_A_G | chr7:87463649 | -0.111 | -0.137 | -0.103 | — |
| chr7_87463689_G_C | chr7:87463689 | 0.111 | 0.147 | 0.188 | — |
| chr7_87463681_T_A | chr7:87463681 | -0.106 | -0.147 | -0.129 | — |
| chr7_87464029_T_C | chr7:87464029 | -0.098 | -0.094 | -0.106 | — |
| chr7_87463690_T_C | chr7:87463690 | 0.087 | 0.132 | 0.171 | — |
| chr7_87463706_A_C | chr7:87463706 | 0.068 | 0.076 | 0.165 | — |
| chr7_87464007_T_A | chr7:87464007 | -0.092 | -0.107 | -0.082 | — |
| chr7_87463680_G_C | chr7:87463680 | -0.088 | -0.112 | -0.088 | — |
| chr7_87463680_G_A | chr7:87463680 | -0.087 | -0.099 | -0.109 | — |
| chr7_87463678_C_G | chr7:87463678 | 0.085 | 0.152 | 0.068 | — |
| chr7_87463638_A_T | chr7:87463638 | 0.082 | 0.129 | 0.088 | — |
| chr7_87463649_A_T | chr7:87463649 | -0.082 | -0.107 | -0.088 | — |
| chr7_87463713_T_A | chr7:87463713 | -0.082 | -0.081 | 0.015 | — |
| chr7_87463681_T_C | chr7:87463681 | -0.078 | -0.132 | -0.029 | — |
| chr7_87463681_T_G | chr7:87463681 | -0.078 | -0.114 | -0.062 | — |
| chr7_87463991_T_A | chr7:87463991 | 0.078 | 0.063 | 0.018 | — |
| chr7_87464044_T_A | chr7:87464044 | -0.078 | -0.099 | -0.012 | — |
| chr7_87463618_G_A | chr7:87463618 | -0.025 | -0.030 | -0.135 | — |
| chr7_87463650_C_A | chr7:87463650 | 0.077 | 0.051 | 0.012 | — |
| chr7_87463683_C_A | chr7:87463683 | -0.077 | -0.107 | -0.074 | — |
| chr7_87463696_A_C | chr7:87463696 | 0.035 | 0.030 | 0.135 | — |
| chr7_87464036_T_C | chr7:87464036 | 0.077 | 0.076 | 0.035 | — |
| chr7_87463680_G_T | chr7:87463680 | -0.075 | -0.076 | -0.106 | — |
| chr7_87464012_A_G | chr7:87464012 | -0.075 | -0.046 | 0.047 | — |
| chr7_87463641_C_A | chr7:87463641 | 0.073 | 0.140 | 0.103 | — |
| chr7_87463665_T_G | chr7:87463665 | 0.040 | 0.074 | 0.129 | — |
| chr7_87463668_C_T | chr7:87463668 | -0.073 | -0.069 | -0.082 | — |
| chr7_87463707_G_C | chr7:87463707 | 0.073 | 0.043 | 0.050 | — |
| chr7_87464001_T_G | chr7:87464001 | 0.007 | 0.066 | 0.129 | — |
| chr7_87463644_A_G | chr7:87463644 | 0.060 | 0.084 | 0.126 | — |
| chr7_87463683_C_G | chr7:87463683 | -0.072 | -0.104 | -0.059 | — |
| chr7_87463712_A_C | chr7:87463712 | 0.020 | -0.005 | 0.124 | — |
| chr7_87463995_C_T | chr7:87463995 | 0.070 | 0.104 | -0.012 | — |
| chr7_87463648_A_T | chr7:87463648 | -0.068 | -0.076 | -0.047 | — |
| chr7_87463677_A_C | chr7:87463677 | -0.068 | -0.091 | -0.059 | — |
| chr7_87463666_T_G | chr7:87463666 | 0.023 | 0.043 | 0.118 | — |
| chr7_87463697_G_C | chr7:87463697 | 0.063 | 0.063 | 0.118 | — |
| chr7_87463712_A_G | chr7:87463712 | -0.008 | -0.005 | 0.118 | — |
| chr7_87463995_C_G | chr7:87463995 | 0.048 | 0.132 | 0.118 | — |
| chr7_87464004_A_C | chr7:87464004 | 0.052 | 0.089 | 0.118 | — |
| chr7_87464042_G_T | chr7:87464042 | -0.067 | -0.074 | -0.106 | — |
| chr7_87463664_A_C | chr7:87463664 | 0.002 | 0.033 | 0.115 | — |
| chr7_87463694_A_C | chr7:87463694 | 0.035 | 0.036 | 0.115 | — |
| chr7_87463624_A_T | chr7:87463624 | -0.063 | -0.056 | -0.062 | — |
| chr7_87463647_T_A | chr7:87463647 | -0.063 | -0.091 | -0.091 | — |
| chr7_87463665_T_C | chr7:87463665 | 0.028 | 0.061 | 0.109 | — |
| chr7_87463679_A_C | chr7:87463679 | -0.062 | -0.091 | -0.041 | — |
| chr7_87463698_G_C | chr7:87463698 | 0.062 | 0.043 | 0.088 | — |
| chr7_87463710_A_C | chr7:87463710 | 0.027 | -0.008 | 0.109 | — |
| chr7_87464003_T_A | chr7:87464003 | 0.062 | 0.089 | 0.035 | — |
| chr7_87463617_G_A | chr7:87463617 | 0.060 | 0.069 | 0.050 | — |
| chr7_87463679_A_T | chr7:87463679 | -0.060 | -0.084 | -0.097 | — |
| chr7_87463692_G_C | chr7:87463692 | 0.055 | 0.043 | 0.106 | — |
| chr7_87464003_T_C | chr7:87464003 | 0.060 | 0.086 | 0.053 | — |
| chr7_87464023_C_G | chr7:87464023 | -0.060 | -0.081 | -0.024 | — |
| chr7_87464026_T_C | chr7:87464026 | -0.060 | -0.061 | -0.065 | — |
| chr7_87464031_T_C | chr7:87464031 | -0.060 | -0.043 | -0.047 | — |
| chr7_87464038_A_T | chr7:87464038 | -0.060 | -0.096 | -0.065 | — |
| chr7_87464043_C_A | chr7:87464043 | 0.060 | 0.102 | 0.012 | — |
| chr7_87463676_C_T | chr7:87463676 | -0.058 | -0.071 | -0.068 | — |
| chr7_87463677_A_G | chr7:87463677 | -0.058 | -0.081 | -0.026 | — |
| chr7_87463683_C_T | chr7:87463683 | -0.058 | -0.104 | -0.085 | — |
| chr7_87463699_A_G | chr7:87463699 | -0.058 | -0.010 | -0.018 | — |
| chr7_87464000_C_A | chr7:87464000 | 0.058 | 0.051 | -0.018 | — |
| chr7_87464012_A_T | chr7:87464012 | -0.058 | -0.020 | 0.024 | — |
| chr7_87464033_T_C | chr7:87464033 | -0.058 | -0.058 | -0.024 | — |
| chr7_87463618_G_T | chr7:87463618 | 0.057 | 0.074 | 0.062 | — |
| chr7_87463622_C_A | chr7:87463622 | 0.057 | 0.053 | 0.009 | — |
| chr7_87463641_C_T | chr7:87463641 | -0.028 | -0.038 | -0.100 | — |
| chr7_87463714_A_G | chr7:87463714 | -0.057 | -0.063 | 0.018 | — |
| chr7_87463719_G_A | chr7:87463719 | -0.002 | -0.013 | -0.100 | — |
| chr7_87464011_T_C | chr7:87464011 | -0.057 | -0.096 | -0.029 | — |
| chr7_87464020_T_C | chr7:87464020 | -0.057 | -0.051 | 0.024 | — |
| chr7_87464024_T_C | chr7:87464024 | -0.057 | -0.023 | -0.006 | — |
| chr7_87463637_A_C | chr7:87463637 | 0.022 | 0.056 | 0.097 | — |
| chr7_87463647_T_G | chr7:87463647 | -0.055 | -0.102 | -0.041 | — |
| chr7_87463713_T_C | chr7:87463713 | -0.022 | -0.036 | 0.097 | — |
| chr7_87463991_T_C | chr7:87463991 | 0.055 | 0.051 | 0.053 | — |
| chr7_87463999_T_G | chr7:87463999 | 0.055 | 0.043 | 0.059 | — |
| chr7_87464001_T_A | chr7:87464001 | 0.055 | 0.041 | 0.065 | — |
| chr7_87464017_T_C | chr7:87464017 | -0.055 | -0.061 | 0.018 | — |
| chr7_87463664_A_G | chr7:87463664 | -0.005 | 0.023 | 0.094 | — |
| chr7_87463669_T_G | chr7:87463669 | 0.053 | 0.074 | 0.079 | — |
| chr7_87463676_C_G | chr7:87463676 | -0.053 | -0.076 | -0.079 | — |
| chr7_87463700_T_C | chr7:87463700 | 0.020 | 0.076 | 0.094 | — |
| chr7_87463714_A_C | chr7:87463714 | 0.005 | 0.005 | 0.094 | — |
| chr7_87463990_A_G | chr7:87463990 | 0.022 | 0.043 | 0.094 | — |
| chr7_87463991_T_G | chr7:87463991 | 0.053 | 0.056 | 0.059 | — |
| chr7_87463996_A_G | chr7:87463996 | 0.008 | 0.071 | 0.094 | — |
| chr7_87464012_A_C | chr7:87464012 | -0.053 | -0.030 | 0.012 | — |
| chr7_87464015_T_G | chr7:87464015 | 0.013 | 0.025 | 0.094 | — |
| chr7_87464032_C_T | chr7:87464032 | -0.053 | -0.048 | -0.071 | — |
| chr7_87464033_T_G | chr7:87464033 | 0.052 | 0.061 | 0.094 | — |
| chr7_87463641_C_G | chr7:87463641 | 0.040 | 0.091 | 0.091 | — |
| chr7_87463660_T_G | chr7:87463660 | 0.052 | 0.091 | 0.044 | — |
| chr7_87463676_C_A | chr7:87463676 | -0.052 | -0.056 | -0.079 | — |
| chr7_87463693_G_C | chr7:87463693 | 0.045 | 0.030 | 0.091 | — |
| chr7_87463716_A_C | chr7:87463716 | 0.052 | 0.058 | 0.088 | — |
| chr7_87463607_A_C | chr7:87463607 | -0.010 | -0.030 | 0.088 | — |
| chr7_87463617_G_T | chr7:87463617 | 0.010 | -0.030 | -0.088 | — |
| chr7_87463647_T_C | chr7:87463647 | 0.050 | 0.053 | 0.062 | — |
| chr7_87463660_T_C | chr7:87463660 | 0.025 | 0.015 | 0.088 | — |
| chr7_87463708_A_C | chr7:87463708 | 0.010 | 0.000 | 0.088 | — |
| chr7_87464006_C_G | chr7:87464006 | -0.050 | -0.071 | -0.065 | — |
| chr7_87464042_G_A | chr7:87464042 | -0.050 | -0.074 | -0.076 | — |
| chr7_87463684_A_T | chr7:87463684 | -0.042 | -0.084 | -0.085 | — |
| chr7_87463688_T_G | chr7:87463688 | -0.048 | -0.041 | -0.021 | — |
| chr7_87463703_T_C | chr7:87463703 | -0.048 | -0.043 | 0.038 | — |
| chr7_87463987_T_A | chr7:87463987 | 0.048 | 0.066 | 0.018 | — |
| chr7_87464034_T_G | chr7:87464034 | 0.048 | 0.020 | 0.047 | — |
| chr7_87463584_A_C | chr7:87463584 | 0.033 | 0.015 | 0.082 | — |
| chr7_87463654_T_C | chr7:87463654 | -0.010 | -0.030 | -0.082 | — |
| chr7_87463657_C_A | chr7:87463657 | -0.045 | -0.038 | -0.082 | — |
| chr7_87463677_A_T | chr7:87463677 | -0.047 | -0.079 | -0.082 | — |
| chr7_87463682_A_T | chr7:87463682 | 0.047 | 0.104 | 0.056 | — |
| chr7_87463688_T_A | chr7:87463688 | -0.047 | -0.056 | -0.056 | — |
| chr7_87463695_G_C | chr7:87463695 | 0.047 | 0.058 | 0.079 | — |
| chr7_87463996_A_C | chr7:87463996 | 0.047 | 0.061 | 0.041 | — |
| chr7_87464024_T_G | chr7:87464024 | -0.022 | 0.003 | 0.082 | — |
| chr7_87464040_A_C | chr7:87464040 | 0.047 | -0.003 | 0.029 | — |
| chr7_87464041_T_C | chr7:87464041 | 0.047 | 0.048 | 0.059 | — |
| chr7_87463613_A_C | chr7:87463613 | 0.025 | 0.030 | 0.079 | — |
| chr7_87463657_C_G | chr7:87463657 | -0.042 | -0.043 | -0.079 | — |
| chr7_87463659_G_C | chr7:87463659 | 0.045 | 0.048 | 0.065 | — |
| chr7_87463667_C_G | chr7:87463667 | 0.010 | 0.061 | 0.079 | — |
| chr7_87463690_T_A | chr7:87463690 | -0.045 | -0.058 | -0.003 | — |
| chr7_87463696_A_T | chr7:87463696 | 0.045 | 0.076 | 0.038 | — |
| chr7_87463713_T_G | chr7:87463713 | -0.045 | -0.041 | 0.079 | — |
| chr7_87463718_G_C | chr7:87463718 | 0.045 | 0.058 | 0.018 | — |
| chr7_87464002_A_C | chr7:87464002 | 0.045 | 0.069 | 0.065 | — |
| chr7_87464026_T_A | chr7:87464026 | -0.045 | -0.015 | -0.065 | — |
| chr7_87463642_T_G | chr7:87463642 | -0.043 | -0.061 | 0.018 | — |
| chr7_87463717_A_C | chr7:87463717 | 0.037 | 0.043 | 0.076 | — |
| chr7_87464003_T_G | chr7:87464003 | 0.043 | 0.058 | 0.024 | — |
| chr7_87464013_T_A | chr7:87464013 | 0.043 | 0.018 | 0.006 | — |
| chr7_87399457_A_C | chr7:87399457 | 0.007 | -0.003 | 0.074 | — |
| chr7_87399461_T_C | chr7:87399461 | -0.007 | -0.005 | 0.074 | — |
| chr7_87463605_T_C | chr7:87463605 | -0.020 | -0.018 | 0.074 | — |
| chr7_87463619_T_C | chr7:87463619 | 0.042 | 0.000 | 0.021 | — |
| chr7_87463645_A_G | chr7:87463645 | 0.012 | 0.041 | 0.074 | — |
| chr7_87463646_G_A | chr7:87463646 | -0.022 | -0.010 | -0.074 | — |
| chr7_87463655_G_T | chr7:87463655 | -0.040 | -0.053 | -0.074 | — |
| chr7_87463656_G_T | chr7:87463656 | -0.022 | -0.023 | -0.074 | — |
| chr7_87463663_A_C | chr7:87463663 | 0.012 | 0.010 | 0.074 | — |
| chr7_87463679_A_G | chr7:87463679 | -0.042 | -0.051 | -0.015 | — |
| chr7_87463684_A_G | chr7:87463684 | -0.042 | -0.076 | -0.006 | — |
| chr7_87463711_G_A | chr7:87463711 | -0.042 | -0.033 | -0.009 | — |
| chr7_87463712_A_T | chr7:87463712 | -0.015 | -0.008 | 0.074 | — |
| chr7_87464009_C_A | chr7:87464009 | 0.042 | 0.028 | 0.012 | — |
| chr7_87464018_T_C | chr7:87464018 | -0.042 | -0.041 | 0.029 | — |
| chr7_87464031_T_A | chr7:87464031 | -0.042 | -0.043 | -0.024 | — |
| chr7_87464037_A_G | chr7:87464037 | 0.042 | 0.091 | 0.012 | — |
| chr7_87463612_A_C | chr7:87463612 | 0.040 | 0.053 | 0.059 | — |
| chr7_87463666_T_C | chr7:87463666 | 0.015 | 0.058 | 0.071 | — |
| chr7_87463690_T_G | chr7:87463690 | -0.038 | -0.046 | -0.071 | — |
| chr7_87463710_A_G | chr7:87463710 | -0.040 | -0.048 | 0.038 | — |
| chr7_87463989_C_T | chr7:87463989 | -0.013 | -0.003 | -0.071 | — |
| chr7_87464002_A_G | chr7:87464002 | 0.033 | 0.056 | 0.071 | — |
| chr7_87464013_T_G | chr7:87464013 | 0.025 | 0.028 | 0.071 | — |
| chr7_87464032_C_A | chr7:87464032 | -0.040 | -0.025 | -0.053 | — |
| chr7_87399442_T_A | chr7:87399442 | 0.019 | 0.051 | 0.068 | — |
| chr7_87463636_G_T | chr7:87463636 | 0.027 | 0.063 | 0.068 | — |
| chr7_87463662_G_C | chr7:87463662 | 0.000 | 0.036 | 0.068 | — |
| chr7_87463678_C_T | chr7:87463678 | 0.038 | 0.069 | 0.024 | — |
| chr7_87463700_T_G | chr7:87463700 | -0.038 | -0.005 | 0.047 | — |
| chr7_87463706_A_G | chr7:87463706 | -0.038 | -0.033 | 0.000 | — |
| chr7_87463992_T_G | chr7:87463992 | 0.038 | 0.008 | 0.047 | — |
| chr7_87464014_C_T | chr7:87464014 | 0.038 | 0.013 | -0.018 | — |
| chr7_87463593_A_C | chr7:87463593 | 0.037 | 0.053 | 0.062 | — |
| chr7_87463617_G_C | chr7:87463617 | 0.037 | 0.018 | -0.009 | — |
| chr7_87463626_A_T | chr7:87463626 | 0.035 | 0.038 | 0.065 | — |
| chr7_87463637_A_G | chr7:87463637 | -0.037 | -0.005 | -0.021 | — |
| chr7_87463658_A_G | chr7:87463658 | -0.033 | -0.030 | 0.065 | — |
| chr7_87463666_T_A | chr7:87463666 | -0.008 | 0.058 | 0.065 | — |
| chr7_87463675_G_A | chr7:87463675 | -0.030 | -0.051 | -0.065 | — |
| chr7_87463692_G_T | chr7:87463692 | 0.037 | 0.030 | 0.038 | — |
| chr7_87463718_G_T | chr7:87463718 | 0.037 | 0.069 | -0.018 | — |
| chr7_87463719_G_T | chr7:87463719 | 0.037 | 0.053 | -0.018 | — |
| chr7_87463994_C_G | chr7:87463994 | 0.017 | -0.015 | 0.065 | — |
| chr7_87464015_T_C | chr7:87464015 | 0.000 | 0.005 | 0.065 | — |
| chr7_87464016_T_A | chr7:87464016 | 0.037 | 0.038 | 0.029 | — |
| chr7_87464016_T_G | chr7:87464016 | 0.023 | 0.018 | 0.065 | — |
| chr7_87464019_T_G | chr7:87464019 | -0.037 | -0.046 | 0.029 | — |
| chr7_87464020_T_G | chr7:87464020 | -0.037 | -0.038 | 0.035 | — |
| chr7_87464021_T_C | chr7:87464021 | 0.005 | 0.015 | 0.065 | — |
| chr7_87464043_C_G | chr7:87464043 | 0.037 | 0.023 | 0.035 | — |
| chr7_87463601_A_T | chr7:87463601 | 0.035 | 0.036 | 0.056 | — |
| chr7_87463615_A_C | chr7:87463615 | 0.035 | 0.063 | 0.053 | — |
| chr7_87463627_A_T | chr7:87463627 | -0.035 | -0.013 | -0.056 | — |
| chr7_87463703_T_G | chr7:87463703 | -0.035 | -0.036 | 0.006 | — |
| chr7_87463714_A_T | chr7:87463714 | -0.035 | -0.038 | 0.006 | — |
| chr7_87463715_G_A | chr7:87463715 | 0.003 | 0.066 | -0.062 | — |
| chr7_87463719_G_C | chr7:87463719 | 0.035 | 0.038 | 0.009 | — |
| chr7_87463996_A_T | chr7:87463996 | 0.035 | 0.061 | 0.029 | — |
Showing 200 of 200 in this window. Scores are the p99-scaled [−1, 1] value; click a column to sort.