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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:AHR-AHR (FusionGDB2 ID:HG196TG196)

Fusion Gene Summary for AHR-AHR

check button Fusion gene summary
Fusion gene informationFusion gene name: AHR-AHR
Fusion gene ID: hg196tg196
HgeneTgene
Gene symbol

AHR

AHR

Gene ID

196

196

Gene namearyl hydrocarbon receptoraryl hydrocarbon receptor
SynonymsRP85|bHLHe76RP85|bHLHe76
Cytomap('AHR')('AHR')

7p21.1

7p21.1

Type of geneprotein-codingprotein-coding
Descriptionaryl hydrocarbon receptorAH-receptorah receptoraromatic hydrocarbon receptorclass E basic helix-loop-helix protein 76aryl hydrocarbon receptorAH-receptorah receptoraromatic hydrocarbon receptorclass E basic helix-loop-helix protein 76
Modification date2020032220200322
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000242057, ENST00000492120, 
ENST00000242057, ENST00000492120, 
Fusion gene scores* DoF score6 X 5 X 5=1504 X 4 X 2=32
# samples 84
** MAII scorelog2(8/150*10)=-0.906890595608519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AHR [Title/Abstract] AND AHR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAHR(17385393)-AHR(17385163), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneAHR

GO:0006355

regulation of transcription, DNA-templated

10395741

HgeneAHR

GO:0006357

regulation of transcription by RNA polymerase II

15681594

HgeneAHR

GO:0006366

transcription by RNA polymerase II

10395741

HgeneAHR

GO:0009410

response to xenobiotic stimulus

7961644

HgeneAHR

GO:0009636

response to toxic substance

7961644

HgeneAHR

GO:0010468

regulation of gene expression

15681594

HgeneAHR

GO:0019933

cAMP-mediated signaling

17329248

HgeneAHR

GO:0030888

regulation of B cell proliferation

15681594

HgeneAHR

GO:0071320

cellular response to cAMP

17329248

HgeneAHR

GO:1904322

cellular response to forskolin

17329248

HgeneAHR

GO:1904613

cellular response to 2,3,7,8-tetrachlorodibenzodioxine

17329248

TgeneAHR

GO:0006355

regulation of transcription, DNA-templated

10395741

TgeneAHR

GO:0006357

regulation of transcription by RNA polymerase II

15681594

TgeneAHR

GO:0006366

transcription by RNA polymerase II

10395741

TgeneAHR

GO:0009410

response to xenobiotic stimulus

7961644

TgeneAHR

GO:0009636

response to toxic substance

7961644

TgeneAHR

GO:0010468

regulation of gene expression

15681594

TgeneAHR

GO:0019933

cAMP-mediated signaling

17329248

TgeneAHR

GO:0030888

regulation of B cell proliferation

15681594

TgeneAHR

GO:0071320

cellular response to cAMP

17329248

TgeneAHR

GO:1904322

cellular response to forskolin

17329248

TgeneAHR

GO:1904613

cellular response to 2,3,7,8-tetrachlorodibenzodioxine

17329248



check button Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand


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Fusion Gene ORF analysis for AHR-AHR

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for AHR-AHR


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for AHR-AHR


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:17385393/:17385163)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for AHR-AHR


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for AHR-AHR


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for AHR-AHR


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for AHR-AHR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAHRC0006142Malignant neoplasm of breast2CTD_human
HgeneAHRC0019209Hepatomegaly2CTD_human
HgeneAHRC0021368Inflammation2CTD_human
HgeneAHRC0023895Liver diseases2CTD_human
HgeneAHRC0023903Liver neoplasms2CTD_human
HgeneAHRC0027626Neoplasm Invasiveness2CTD_human
HgeneAHRC0028754Obesity2CTD_human
HgeneAHRC0030297Pancreatic Neoplasm2CTD_human
HgeneAHRC0043094Weight Gain2CTD_human
HgeneAHRC0086565Liver Dysfunction2CTD_human
HgeneAHRC0149721Left Ventricular Hypertrophy2CTD_human
HgeneAHRC0333641Atrophic2CTD_human
HgeneAHRC0345904Malignant neoplasm of liver2CTD_human
HgeneAHRC0346647Malignant neoplasm of pancreas2CTD_human
HgeneAHRC0678222Breast Carcinoma2CTD_human
HgeneAHRC1257931Mammary Neoplasms, Human2CTD_human
HgeneAHRC1458155Mammary Neoplasms2CTD_human
HgeneAHRC4704874Mammary Carcinoma, Human2CTD_human
HgeneAHRC0000786Spontaneous abortion1CTD_human
HgeneAHRC0000822Abortion, Tubal1CTD_human
HgeneAHRC0003865Arthritis, Adjuvant-Induced1CTD_human
HgeneAHRC0003873Rheumatoid Arthritis1CTD_human
HgeneAHRC0004153Atherosclerosis1CTD_human
HgeneAHRC0004943Behcet Syndrome1CTD_human
HgeneAHRC0005612Birth Weight1CTD_human
HgeneAHRC0005683Urinary Bladder Calculi (disorder)1CTD_human
HgeneAHRC0005974Bone Resorption1CTD_human
HgeneAHRC0006826Malignant Neoplasms1CTD_human
HgeneAHRC0009319Colitis1CTD_human
HgeneAHRC0011616Contact Dermatitis1CTD_human
HgeneAHRC0018273Growth Disorders1CTD_human
HgeneAHRC0018798Congenital Heart Defects1CTD_human
HgeneAHRC0018800Cardiomegaly1CTD_human
HgeneAHRC0019193Hepatitis, Toxic1CTD_human
HgeneAHRC0020538Hypertensive disease1CTD_human
HgeneAHRC0020564Hypertrophy1CTD_human
HgeneAHRC0020578Hyperventilation1CTD_human
HgeneAHRC0021364Male infertility1CTD_human
HgeneAHRC0021655Insulin Resistance1CTD_human
HgeneAHRC0023890Liver Cirrhosis1CTD_human
HgeneAHRC0024623Malignant neoplasm of stomach1CTD_human
HgeneAHRC0025517Metabolic Diseases1CTD_human
HgeneAHRC0027540Necrosis1CTD_human
HgeneAHRC0027627Neoplasm Metastasis1CTD_human
HgeneAHRC0027651Neoplasms1CTD_human
HgeneAHRC0027659Neoplasms, Experimental1CTD_human
HgeneAHRC0028043Nicotine Dependence1CTD_human
HgeneAHRC0032285Pneumonia1CTD_human
HgeneAHRC0032300Lobar Pneumonia1CTD_human
HgeneAHRC0033578Prostatic Neoplasms1CTD_human
HgeneAHRC0035334Retinitis Pigmentosa1ORPHANET
HgeneAHRC0037116Silicosis1CTD_human
HgeneAHRC0037997Splenic Diseases1CTD_human
HgeneAHRC0038002Splenomegaly1CTD_human
HgeneAHRC0038356Stomach Neoplasms1CTD_human
HgeneAHRC0039231Tachycardia1CTD_human
HgeneAHRC0040332Tobacco Dependence1CTD_human
HgeneAHRC0041955Ureteral Neoplasms1CTD_human
HgeneAHRC0042373Vascular Diseases1CTD_human
HgeneAHRC0080203Tachyarrhythmia1CTD_human
HgeneAHRC0086692Benign Neoplasm1CTD_human
HgeneAHRC0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneAHRC0153619Malignant neoplasm of ureter1CTD_human
HgeneAHRC0162351Contact hypersensitivity1CTD_human
HgeneAHRC0162834Hyperpigmentation1CTD_human
HgeneAHRC0236811Chronobiology Disorders1CTD_human
HgeneAHRC0239946Fibrosis, Liver1CTD_human
HgeneAHRC0242339Dyslipidemias1CTD_human
HgeneAHRC0242706Hyperoxia1CTD_human
HgeneAHRC0273115Lung Injury1CTD_human
HgeneAHRC0376358Malignant neoplasm of prostate1CTD_human
HgeneAHRC0376384Nicotine Use Disorder1CTD_human
HgeneAHRC0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgeneAHRC0559470Allergy to peanuts1CTD_human
HgeneAHRC0598784Dyslipoproteinemias1CTD_human
HgeneAHRC0700501Congenital nystagmus1CTD_human
HgeneAHRC0813142Circadian Rhythm Disorders1CTD_human
HgeneAHRC0848676Subfertility, Male1CTD_human
HgeneAHRC0860207Drug-Induced Liver Disease1CTD_human
HgeneAHRC0887800Psychogenic Inversion of Circadian Rhythm1CTD_human
HgeneAHRC0887898Experimental Lung Inflammation1CTD_human
HgeneAHRC0917731Male sterility1CTD_human
HgeneAHRC0920563Insulin Sensitivity1CTD_human
HgeneAHRC0971858Arthritis, Collagen-Induced1CTD_human
HgeneAHRC0993582Arthritis, Experimental1CTD_human
HgeneAHRC1262760Hepatitis, Drug-Induced1CTD_human
HgeneAHRC1383860Cardiac Hypertrophy1CTD_human
HgeneAHRC1563937Atherogenesis1CTD_human
HgeneAHRC1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneAHRC2350344Chronic Lung Injury1CTD_human
HgeneAHRC2673809Infantile nystagmus1GENOMICS_ENGLAND
HgeneAHRC2931037Pancreatic cancer, adult1CTD_human
HgeneAHRC3241937Nonalcoholic Steatohepatitis1CTD_human
HgeneAHRC3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneAHRC3714636Pneumonitis1CTD_human
HgeneAHRC3830362Early Pregnancy Loss1CTD_human
HgeneAHRC4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneAHRC4279912Chemically-Induced Liver Toxicity1CTD_human
HgeneAHRC4552766Miscarriage1CTD_human
TgeneC0006142Malignant neoplasm of breast2CTD_human
TgeneC0019209Hepatomegaly2CTD_human
TgeneC0021368Inflammation2CTD_human
TgeneC0023895Liver diseases2CTD_human
TgeneC0023903Liver neoplasms2CTD_human
TgeneC0027626Neoplasm Invasiveness2CTD_human
TgeneC0028754Obesity2CTD_human
TgeneC0030297Pancreatic Neoplasm2CTD_human
TgeneC0043094Weight Gain2CTD_human
TgeneC0086565Liver Dysfunction2CTD_human
TgeneC0149721Left Ventricular Hypertrophy2CTD_human
TgeneC0333641Atrophic2CTD_human
TgeneC0345904Malignant neoplasm of liver2CTD_human
TgeneC0346647Malignant neoplasm of pancreas2CTD_human
TgeneC0678222Breast Carcinoma2CTD_human
TgeneC1257931Mammary Neoplasms, Human2CTD_human
TgeneC1458155Mammary Neoplasms2CTD_human
TgeneC4704874Mammary Carcinoma, Human2CTD_human
TgeneC0000786Spontaneous abortion1CTD_human
TgeneC0000822Abortion, Tubal1CTD_human
TgeneC0003865Arthritis, Adjuvant-Induced1CTD_human
TgeneC0003873Rheumatoid Arthritis1CTD_human
TgeneC0004153Atherosclerosis1CTD_human
TgeneC0004943Behcet Syndrome1CTD_human
TgeneC0005612Birth Weight1CTD_human
TgeneC0005683Urinary Bladder Calculi (disorder)1CTD_human
TgeneC0005974Bone Resorption1CTD_human
TgeneC0006826Malignant Neoplasms1CTD_human
TgeneC0009319Colitis1CTD_human
TgeneC0011616Contact Dermatitis1CTD_human
TgeneC0018273Growth Disorders1CTD_human
TgeneC0018798Congenital Heart Defects1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0020538Hypertensive disease1CTD_human
TgeneC0020564Hypertrophy1CTD_human
TgeneC0020578Hyperventilation1CTD_human
TgeneC0021364Male infertility1CTD_human
TgeneC0021655Insulin Resistance1CTD_human
TgeneC0023890Liver Cirrhosis1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0025517Metabolic Diseases1CTD_human
TgeneC0027540Necrosis1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0027651Neoplasms1CTD_human
TgeneC0027659Neoplasms, Experimental1CTD_human
TgeneC0028043Nicotine Dependence1CTD_human
TgeneC0032285Pneumonia1CTD_human
TgeneC0032300Lobar Pneumonia1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0035334Retinitis Pigmentosa1ORPHANET
TgeneC0037116Silicosis1CTD_human
TgeneC0037997Splenic Diseases1CTD_human
TgeneC0038002Splenomegaly1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0039231Tachycardia1CTD_human
TgeneC0040332Tobacco Dependence1CTD_human
TgeneC0041955Ureteral Neoplasms1CTD_human
TgeneC0042373Vascular Diseases1CTD_human
TgeneC0080203Tachyarrhythmia1CTD_human
TgeneC0086692Benign Neoplasm1CTD_human
TgeneC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneC0153619Malignant neoplasm of ureter1CTD_human
TgeneC0162351Contact hypersensitivity1CTD_human
TgeneC0162834Hyperpigmentation1CTD_human
TgeneC0236811Chronobiology Disorders1CTD_human
TgeneC0239946Fibrosis, Liver1CTD_human
TgeneC0242339Dyslipidemias1CTD_human
TgeneC0242706Hyperoxia1CTD_human
TgeneC0273115Lung Injury1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0376384Nicotine Use Disorder1CTD_human
TgeneC0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneC0559470Allergy to peanuts1CTD_human
TgeneC0598784Dyslipoproteinemias1CTD_human
TgeneC0700501Congenital nystagmus1CTD_human
TgeneC0813142Circadian Rhythm Disorders1CTD_human
TgeneC0848676Subfertility, Male1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC0887800Psychogenic Inversion of Circadian Rhythm1CTD_human
TgeneC0887898Experimental Lung Inflammation1CTD_human
TgeneC0917731Male sterility1CTD_human
TgeneC0920563Insulin Sensitivity1CTD_human
TgeneC0971858Arthritis, Collagen-Induced1CTD_human
TgeneC0993582Arthritis, Experimental1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1563937Atherogenesis1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC2350344Chronic Lung Injury1CTD_human
TgeneC2673809Infantile nystagmus1GENOMICS_ENGLAND
TgeneC2931037Pancreatic cancer, adult1CTD_human
TgeneC3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC3714636Pneumonitis1CTD_human
TgeneC3830362Early Pregnancy Loss1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC4552766Miscarriage1CTD_human