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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:NR1I3-ZP3 (FusionGDB2 ID:59724)

Fusion Gene Summary for NR1I3-ZP3

check button Fusion gene summary
Fusion gene informationFusion gene name: NR1I3-ZP3
Fusion gene ID: 59724
HgeneTgene
Gene symbol

NR1I3

ZP3

Gene ID

9970

7784

Gene namenuclear receptor subfamily 1 group I member 3zona pellucida glycoprotein 3
SynonymsCAR|CAR1|MB67OOMD3|ZP3A|ZP3B|ZPC|Zp-3
Cytomap

1q23.3

7q11.23

Type of geneprotein-codingprotein-coding
Descriptionnuclear receptor subfamily 1 group I member 3constitutive activator of retinoid responseconstitutive active receptorconstitutive active responseconstitutive androstane nuclear receptor variant 2constitutive androstane nuclear receptor variant 3constzona pellucida sperm-binding protein 3ZP3A/ZP3Bsperm receptorzona pellucida glycoprotein 3Bzona pellucida glycoprotein ZP3zona pellucida protein C
Modification date2020031320200313
UniProtAcc

Q14994

.
Ensembl transtripts involved in fusion geneENST00000512372, ENST00000367980, 
ENST00000367983, ENST00000437437, 
ENST00000479324, ENST00000442691, 
ENST00000412844, ENST00000428574, 
ENST00000505005, ENST00000508740, 
ENST00000367982, ENST00000508387, 
ENST00000511944, ENST00000504010, 
ENST00000511748, ENST00000511676, 
ENST00000502985, ENST00000367981, 
ENST00000515621, ENST00000367984, 
ENST00000367985, ENST00000367979, 
ENST00000506209, ENST00000515452, 
ENST00000336517, ENST00000394857, 
ENST00000416245, ENST00000467555, 
Fusion gene scores* DoF score1 X 1 X 1=19 X 10 X 9=810
# samples 114
** MAII scorelog2(1/1*10)=3.32192809488736log2(14/810*10)=-2.53249508082702
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NR1I3 [Title/Abstract] AND ZP3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNR1I3(161207830)-ZP3(76063354), # samples:1
Anticipated loss of major functional domain due to fusion event.NR1I3-ZP3 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
NR1I3-ZP3 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
HgeneNR1I3

GO:0045944

positive regulation of transcription by RNA polymerase II

11114890

TgeneZP3

GO:0002922

positive regulation of humoral immune response

19004505

TgeneZP3

GO:0007339

binding of sperm to zona pellucida

19246320|19700799

TgeneZP3

GO:2000344

positive regulation of acrosome reaction

11751269|18667750|20394732

TgeneZP3

GO:2000360

negative regulation of binding of sperm to zona pellucida

18667750

TgeneZP3

GO:2000368

positive regulation of acrosomal vesicle exocytosis

19246320


check buttonFusion gene breakpoints across NR1I3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across ZP3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4Non-CancerTCGA-BD-A2L6-11ANR1I3chr1

161207830

-ZP3chr7

76063354

+


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Fusion Gene ORF analysis for NR1I3-ZP3

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
Frame-shiftENST00000512372ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000512372ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000512372ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5CDS-intronENST00000512372ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000367980ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000367980ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000367980ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-intronENST00000367980ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000367983ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000367983ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000367983ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-intronENST00000367983ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000437437ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000437437ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000437437ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5CDS-intronENST00000437437ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
intron-3CDSENST00000479324ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
intron-3CDSENST00000479324ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
intron-3CDSENST00000479324ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
intron-intronENST00000479324ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000442691ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000442691ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000442691ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-intronENST00000442691ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000412844ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000412844ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000412844ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5CDS-intronENST00000412844ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000428574ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000428574ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000428574ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-intronENST00000428574ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000505005ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000505005ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000505005ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-intronENST00000505005ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000508740ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000508740ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000508740ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5CDS-intronENST00000508740ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000367982ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000367982ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000367982ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-intronENST00000367982ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000508387ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000508387ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000508387ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5CDS-intronENST00000508387ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000511944ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000511944ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000511944ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-intronENST00000511944ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000504010ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000504010ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000504010ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5CDS-intronENST00000504010ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000511748ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000511748ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000511748ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5CDS-intronENST00000511748ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000511676ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000511676ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000511676ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5CDS-intronENST00000511676ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000502985ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000502985ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000502985ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-intronENST00000502985ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000367981ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000367981ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000367981ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5CDS-intronENST00000367981ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000515621ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000515621ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000515621ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-intronENST00000515621ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000367984ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000367984ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000367984ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-intronENST00000367984ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000367985ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000367985ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000367985ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-intronENST00000367985ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
intron-3CDSENST00000367979ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
intron-3CDSENST00000367979ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
intron-3CDSENST00000367979ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
intron-intronENST00000367979ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000506209ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000506209ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
Frame-shiftENST00000506209ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5CDS-intronENST00000506209ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000515452ENST00000336517NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000515452ENST00000394857NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-3CDSENST00000515452ENST00000416245NR1I3chr1

161207830

-ZP3chr7

76063354

+
5UTR-intronENST00000515452ENST00000467555NR1I3chr1

161207830

-ZP3chr7

76063354

+

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 NR1I3-ZP3


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)
NR1I3chr1161207830-ZP3chr776063354+9.73E-060.9999902
NR1I3chr1161207830-ZP3chr776063354+9.73E-060.9999902

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for NR1I3-ZP3


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NR1I3

Q14994

.
FUNCTION: Binds and transactivates the retinoic acid response elements that control expression of the retinoic acid receptor beta 2 and alcohol dehydrogenase 3 genes. Transactivates both the phenobarbital responsive element module of the human CYP2B6 gene and the CYP3A4 xenobiotic response element.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 NR1I3-ZP3


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 NR1I3-ZP3


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 NR1I3-ZP3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneNR1I3Q14994DB00737MeclizineInverse agonistSmall moleculeApproved
HgeneNR1I3Q14994DB00737MeclizineInverse agonistSmall moleculeApproved
HgeneNR1I3Q14994DB00836LoperamideSmall moleculeApproved
HgeneNR1I3Q14994DB00836LoperamideSmall moleculeApproved
HgeneNR1I3Q14994DB01076AtorvastatinLigandSmall moleculeApproved
HgeneNR1I3Q14994DB01076AtorvastatinLigandSmall moleculeApproved
HgeneNR1I3Q14994DB01620PheniramineSmall moleculeApproved
HgeneNR1I3Q14994DB01620PheniramineSmall moleculeApproved
HgeneNR1I3Q14994DB01026KetoconazoleSmall moleculeApproved|Investigational
HgeneNR1I3Q14994DB01026KetoconazoleSmall moleculeApproved|Investigational
HgeneNR1I3Q14994DB04540CholesterolSmall moleculeApproved|Investigational
HgeneNR1I3Q14994DB04540CholesterolSmall moleculeApproved|Investigational
HgeneNR1I3Q14994DB08604TriclosanInverse agonistSmall moleculeApproved|Investigational
HgeneNR1I3Q14994DB08604TriclosanInverse agonistSmall moleculeApproved|Investigational
HgeneNR1I3Q14994DB01708PrasteroneActivatorSmall moleculeApproved|Investigational|Nutraceutical
HgeneNR1I3Q14994DB01708PrasteroneActivatorSmall moleculeApproved|Investigational|Nutraceutical
HgeneNR1I3Q14994DB00366DoxylamineSmall moleculeApproved|Vet_approved
HgeneNR1I3Q14994DB00366DoxylamineSmall moleculeApproved|Vet_approved
HgeneNR1I3Q14994DB04824PhenolphthaleinSmall moleculeApproved|Withdrawn
HgeneNR1I3Q14994DB04824PhenolphthaleinSmall moleculeApproved|Withdrawn

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Related Diseases for NR1I3-ZP3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNR1I3C0023903Liver neoplasms5CTD_human
HgeneNR1I3C0345904Malignant neoplasm of liver5CTD_human
HgeneNR1I3C0019193Hepatitis, Toxic3CTD_human
HgeneNR1I3C0019207Hepatoma, Morris3CTD_human
HgeneNR1I3C0019208Hepatoma, Novikoff3CTD_human
HgeneNR1I3C0019209Hepatomegaly3CTD_human
HgeneNR1I3C0023904Liver Neoplasms, Experimental3CTD_human
HgeneNR1I3C0086404Experimental Hepatoma3CTD_human
HgeneNR1I3C0860207Drug-Induced Liver Disease3CTD_human
HgeneNR1I3C1262760Hepatitis, Drug-Induced3CTD_human
HgeneNR1I3C3658290Drug-Induced Acute Liver Injury3CTD_human
HgeneNR1I3C4277682Chemical and Drug Induced Liver Injury3CTD_human
HgeneNR1I3C4279912Chemically-Induced Liver Toxicity3CTD_human
HgeneNR1I3C0032927Precancerous Conditions2CTD_human
HgeneNR1I3C0282313Condition, Preneoplastic2CTD_human
HgeneNR1I3C0011849Diabetes Mellitus1CTD_human
HgeneNR1I3C0028754Obesity1CTD_human
HgeneNR1I3C0206669Hepatocellular Adenoma1CTD_human
HgeneNR1I3C0524620Metabolic Syndrome X1CTD_human
TgeneZP3C4540205OOCYTE MATURATION DEFECT 32ORPHANET;UNIPROT
TgeneZP3C4014291OOCYTE MATURATION DEFECT 11ORPHANET