Fusion Gene Studies
in Kim Lab

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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:ACOX1-PRKCA (FusionGDB2 ID:HG51TG5578)

Fusion Gene Summary for ACOX1-PRKCA

check button Fusion gene summary
Fusion gene informationFusion gene name: ACOX1-PRKCA
Fusion gene ID: hg51tg5578
HgeneTgene
Gene symbol

ACOX1

PRKCA

Gene ID

51

5578

Gene nameacyl-CoA oxidase 1protein kinase C alpha
SynonymsACOX|PALMCOX|SCOXAAG6|PKC-alpha|PKCA|PKCI+/-|PKCalpha|PRKACA
Cytomap('ACOX1')('PRKCA')

17q25.1

17q24.2

Type of geneprotein-codingprotein-coding
Descriptionperoxisomal acyl-coenzyme A oxidase 1AOXacyl-CoA oxidase 1, palmitoylacyl-CoA oxidase, straight-chainacyl-Coenzyme A oxidase 1, palmitoylpalmitoyl-CoA oxidaseperoxisomal fatty acyl-CoA oxidasestraight-chain acyl-CoA oxidaseprotein kinase C alpha typePKC-Aaging-associated gene 6
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000293217, ENST00000301608, 
ENST00000537812, ENST00000591857, 
Fusion gene scores* DoF score6 X 6 X 5=18026 X 21 X 9=4914
# samples 1029
** MAII scorelog2(10/180*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(29/4914*10)=-4.08277305234723
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACOX1 [Title/Abstract] AND PRKCA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACOX1(73974614)-PRKCA(64799990), # samples:1
Anticipated loss of major functional domain due to fusion event.ACOX1-PRKCA seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ACOX1-PRKCA seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ACOX1-PRKCA seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ACOX1-PRKCA seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ACOX1-PRKCA seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
ACOX1-PRKCA seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
ACOX1-PRKCA seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ACOX1-PRKCA seems lost the major protein functional domain in Tgene partner, which is a kinase 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
HgeneACOX1

GO:0006629

lipid metabolic process

8117268

TgenePRKCA

GO:0006468

protein phosphorylation

10770950

TgenePRKCA

GO:0035408

histone H3-T6 phosphorylation

20228790

TgenePRKCA

GO:0043536

positive regulation of blood vessel endothelial cell migration

20011604

TgenePRKCA

GO:0090330

regulation of platelet aggregation

12724315


check buttonFusion gene breakpoints across ACOX1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across PRKCA (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4STADTCGA-BR-8286ACOX1chr17

73974614

-PRKCAchr17

64799990

+


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Fusion Gene ORF analysis for ACOX1-PRKCA

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
5CDS-intronENST00000293217ENST00000583361ACOX1chr17

73974614

-PRKCAchr17

64799990

+
5CDS-intronENST00000301608ENST00000583361ACOX1chr17

73974614

-PRKCAchr17

64799990

+
5CDS-intronENST00000537812ENST00000583361ACOX1chr17

73974614

-PRKCAchr17

64799990

+
5UTR-3CDSENST00000591857ENST00000413366ACOX1chr17

73974614

-PRKCAchr17

64799990

+
5UTR-intronENST00000591857ENST00000583361ACOX1chr17

73974614

-PRKCAchr17

64799990

+
Frame-shiftENST00000537812ENST00000413366ACOX1chr17

73974614

-PRKCAchr17

64799990

+
In-frameENST00000293217ENST00000413366ACOX1chr17

73974614

-PRKCAchr17

64799990

+
In-frameENST00000301608ENST00000413366ACOX1chr17

73974614

-PRKCAchr17

64799990

+

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)
ENST00000293217ACOX1chr1773974614-ENST00000413366PRKCAchr1764799990+743055930533616187
ENST00000301608ACOX1chr1773974614-ENST00000413366PRKCAchr1764799990+720133028243387187

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
ENST00000293217ENST00000413366ACOX1chr1773974614-PRKCAchr1764799990+0.227760930.7722391
ENST00000301608ENST00000413366ACOX1chr1773974614-PRKCAchr1764799990+0.222363220.77763677

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Fusion Genomic Features for ACOX1-PRKCA


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)
ACOX1chr1773974614-PRKCAchr1764799990+2.32E-081
ACOX1chr1773974614-PRKCAchr1764799990+2.32E-081

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.
genomic feature

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.
genomic feature of top 1%

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Fusion Protein Features for ACOX1-PRKCA


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/chr17:73974614/chr17:64799990)
- 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
HgeneACOX1chr17:73974614chr17:64799990ENST00000293217-214658_66089661.0MotifNote=Microbody targeting signal
HgeneACOX1chr17:73974614chr17:64799990ENST00000301608-214658_66089661.0MotifNote=Microbody targeting signal
HgeneACOX1chr17:73974614chr17:64799990ENST00000537812-214658_66051623.0MotifNote=Microbody targeting signal
TgenePRKCAchr17:73974614chr17:64799990ENST000004133661517158_275618673.0DomainC2
TgenePRKCAchr17:73974614chr17:64799990ENST000004133661517339_597618673.0DomainProtein kinase
TgenePRKCAchr17:73974614chr17:64799990ENST000004133661517598_668618673.0DomainAGC-kinase C-terminal
TgenePRKCAchr17:73974614chr17:64799990ENST000004133661517345_353618673.0Nucleotide bindingATP
TgenePRKCAchr17:73974614chr17:64799990ENST000004133661517101_151618673.0Zinc fingerPhorbol-ester/DAG-type 2
TgenePRKCAchr17:73974614chr17:64799990ENST00000413366151736_86618673.0Zinc fingerPhorbol-ester/DAG-type 1


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Fusion Gene Sequence for ACOX1-PRKCA


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.
>1398_1398_1_ACOX1-PRKCA_ACOX1_chr17_73974614_ENST00000293217_PRKCA_chr17_64799990_ENST00000413366_length(transcript)=7430nt_BP=559nt
CGAGGATCCGCTCGGGAGCCTCCCCTGGCCAGGAGCAGGGGATTAGTCTGCCCCGCGACCGGCCCCAGCCACGACGCGGACATCGCCCCC
TCTGTCTGGGCCGCTGTCACTCACGCGCCAAAGGGCCACGGAGAAAGAAGGGGCGGGCCGGGGCGGGCCGGGCGAGCGGAGGCGGGGACT
TGCGCCGTCCTGAGGCTGCCTCCTAGGGTCCGGCCGGCGCTGGAGCTGCGGATTTAGATTGTCACTGCCACCTCGGTCGGTGCTTACTTC
GCTGCCAGCTGGTCGTCGCCATGAACCCGGACCTGCGCAGGGAGCGGGATTCCGCCAGCTTCAACCCGGAGCTGCTTACACACATCCTGG
ACGGCAGCCCCGAGAAAACCCGGCGCCGCCGAGAGATCGAGAACATGATCCTGAACGACCCAGACTTCCAGCATGAGGACTTGAACTTCC
TCACTCGCAGCCAGCGTTATGAGGTGGCTGTCAGGAAAAGTGCCATCATGGTGAAGAAGATGAGGGAGTTTGGCATCGCTGACCCTGATG
AAATTATGTGGTTTAAAAATGTGGCAAAGGAGCAGAGAACTTTGACAAGTTCTTCACACGAGGACAGCCCGTCTTAACACCACCTGATCA
GCTGGTTATTGCTAACATAGACCAGTCTGATTTTGAAGGGTTCTCGTATGTCAACCCCCAGTTTGTGCACCCCATCTTACAGAGTGCAGT
ATGAAACTCACCAGCGAGAACAAACACCTCCCCAGCCCCCAGCCCTCCCCGCAGTGGGAAGTGAATCCTTAACCCTAAAATTTTAAGGCC
ACGGCCTTGTGTCTGATTCCATATGGAGGCCTGAAAATTGTAGGGTTATTAGTCCAAATGTGATCAACTGTTCAGGGTCTCTCTCTTACA
ACCAAGAACATTATCTTAGTGGAAGATGGTACGTCATGCTCAGTGTCCAGTTTAATTCTGTAGAAGTTACGTCTGGCTCTAGGTTAACCC
TTCCTAGAAAGCAAGCAGACTGTTGCCCCATTTTGGGTACAATTTGATATACTTTCCATACCCTCCATCTGTGGATTTTTCAGCATTGGA
ATCCCCCAACCAGAGATGTTAAAGTGAGCCTGTCCCAGGAAACATCTCCACCCAAGACGTCTTTGGAATCCAAGAACAGGAAGCCAAGAG
AGTGAGCAGGGAGGGATTGGGGGTGGGGGAGGCCTCAAAATACCGACTGCGTCCATTCTCTGCCTCCATGGAAACAGCCCCTAGAATCTG
AAAGGCCGGGATAAACCTAATCACTGTTCCCAAACATTGACAAATCCTAACCCAACCATGGTCCAGCAGTTACCAGTTTAAACAAAAAAA
CCTCAGATGAGTGTTGGGTGAATCTGTCATCTGGTACCCTCCTTGGTTGATAACTGTCTTGATACTTTTCATTCTTTGTAAGAGGCCAAA
TCGTCTAAGGACGTTGCTGAACAAGCGTGTGAAATCATTTCAGATCAAGGATAAGCCAGTGTGTACATATGTTCATTTTAATCTCTGGGA
GATTATTTTTCCATCCAGGGTGCCATCAGTAATCATGCCACTACTCACCAGTGTTGTTCACCAACACCCACCCCCACACACACCAACATT
TTGCTGCCTACCTTGTTATCCTTCTCAAGAAGCTGAAGTGTACGCCCTCTCCCCTTTTGTGCTTATTTATTTAATAGGCTGCAGTGTCGC
TTATGAAAGTACGATGTACAGTAACTTAATGGAAGTGCTGACTCTAGCATCAGCCTCTACCGATTGATTTTCCTCCCTTCTCTAGCCCTG
GATGTCCACTTAGGGATAAAAAGAATATGGTTTTGGTTCCCATTTCTAGTTCACGTTGAATGACAGGCCTGGAGCTGTAGAATCAGGAAA
CCCGGATGCCTAACAGCTCAAAGATGTTTTGTTAATAGAAGGATTTTAATACGTTTTGCAAATGCATCATGCAATGAATTTTGCATGTTT
ATAATAAACCTTAATAACAAGTGAATCTATATTATTGATATAATCGTATCAAGTATAAAGAGAGTATTATAATAATTTTATAAGACACAA
TTGTGCTCTATTTGTGCAGGTTCTTGTTTCTAATCCTCTTTTCTAATTAAGTTTTAGCTGAATCCCTTGCTTCTGTGCTTTCCCTCCCTG
CACATGGGCACTGTATCAGATAGATTACTTTTTAAATGTAGATAAAATTTCAAAAATGAATGGCTAGTTTACGTGATAGATTAGGCTCTT
ACTACATATGTGTGTGTATATATATGTATTTGATTCTACCTGCAAACAAATTTTTATTGGTGAGGACTATTTTTGAGCTGACACTCCCTC
TTAGTTTCTTCATGTCACCTTTCGTCCTGGTTCCTCCGCCACTCTTCCTCTTGGGGACAACAGGAAGTGTCTGATTCCAGTCTGCCTAGT
ACGTTGGTACACACGTGGCATTGCCGCAGCACCTGGGCTGACCTTTGTGTGTGCGTGTGTGTGTGTTTCCTTCTTCCCTTCAGCCTGTGA
CTGTTGCTGACTCCAGGGGTGGGAGGGATGGGGAGACTCCCCTCTTGCTGTGTGTACTGGACACGCAGGAAGCATGCTGTCTTGCTGCCT
CTGCAACGACCTGTCGTTTGCTCCAGCATGCACAAACTTCGTGAGACCAACACAGCCGTGCCCTGCAGGCACCAGCACGTGCTTTTCAGA
GGCTGCGGACTTTCTTCCAGCCATTGTGGCATTGGCCTTTCCAGTCTTGGGAGGAGCGCGCTGCTTTGGTGAGACACCCCCATGCAAGGT
CCTCAGAGTAGCCGGGTTCTACCACAAACAGAAACAGAATGAAAGTAGCTGTCAGTCCTTGTAGAGAGCCGCTCTGTTTCCTCCCAGAAG
CATCTCCCAGCTAAGCTCGCATTATTTTTCTCCTCTGGCTGTTTGCCTGAAGTTCACAGAACACACAACCATGAAAGGCTTTTTGAGGTG
AGAGGCCCAGGTGGTCCTGGCAACCCTGAGTAGAAGGAGAGACGGGGTAGGGAACGGGCCCGGCCAGAAAAGAACCATTTCTTCTGCCAT
CTTTTATGCACCATAGACATCGAGACTCCAGGGGGTCCTGGCTCCCCTGTCCCTGCAGCCCTGCAGGTCAGTGCATGATCTGGGTTCGTG
TCCTGACCAGGTGCTCCTCCTTTGATCCGAGGGGAAAGGGACTGGTTTATAGAAAGAGCCTAGGAGACAAAAGGGCCAGTCCCCCTGCCC
AGAATGGAGCAGCAGCAGGACAGACCCCCACGAGGCCCCCCAGAGAGGAGGAAGATCCCACGGAGGAACACATGAGGTTAGGGACCCTTG
TTCAGCACCCCAAACAGCCTGCCTGTTTAAAGCAGGCAGCAGGCTTAGGCCTTCCCTGCAACCCCAACACCCACAAGTTTGTTTCTCTAG
GAAACACATTCACTGTCTCAGCTGGCTGTTACTCTCTCAGACCATATGGCAAAGTTTTCCAAGAAAATGCCCCGACAGGGGTGCCCAGCA
CACTGCCTGAGGGACAACAGACATCAGAACAAACCCCCAGAGAGAAACAGTCAAAATCAGGGCCCGGTGCAGTGTTGTCATGTGGAACCT
GCTTTATCCATTGCTGAGTGTTGAATGTGGGTAATGGTTAGGGCTTTCCAGATCTCAGCAGCCAAAGACAGTTATTGTTGGAAGACTGTC
ATGTAGATAACCATGAGCAATGGCTCGCCTCAGAATCAGTTCATAAAATTCTATGGTACTGGCCCCTTCGTGGGTATTGTGTGAAATGAG
ATGGTGGCGAGGGGTGCGCTGTGGAACTGCCGCAGCCACGCAGGAGGTCCCTGGGGGATGCTTTGGGAAGTCCTTGCCCCTGAGCACTGC
CTGATTGCCAGGGCCTGTGGAGGTCTAGGCCGCCTGGCAGAATCTAGCACCGTCCGAATCCCCGCAGGACCCATGGAGCTATGACCACAC
CAGGCCATTCAAATGGCTCTGCATTATCTTCCCTTGGAAGGTGGCCACTCCTCGGTGGCAGGGCCTTTCCCTGAGGCTGCAGGCCGTGGG
CTGGCAGCCCGTCTCTTGGCATTTCAATTGAAGGTCACCAGGTGCTGGGTTTGAAAGGAAGTCACTGGAGTGCTGCCAGGGGCCGCCCTC
CAAGGTTAATGAGAGGCCCACATCCAGGCAAGAACTAATTCAAAAGGCAGATCAGAAACCACAGGAGTCAAAATTATTGCTCCGGCAGTG
CTTCCCTTCCTTTCATCCACTGGCCTCGTGTGGTCCATGCAGGGCCACTGTCTGCCCTTTCTGATGCCACGTATTAGGCTTTCTTACTCA
GAATTTTGATAGAAAACCATGGGGCCAAGAGCTCTGGAAGCCTGGCCGGAAAGACCAAGGTTCATGCAGCCCAACAAATGATTGTTGAGC
ACCTCTCGGAGCCAAAGTCCTTAGGCGAGTGTGGTGACTTCCTGGAAGGAGGATGCAGACTTCCAGAGAGCCCCCCCAACGGACGTGCTG
AGAAGGGAGAGGGAGGCGGGGGCTGTAGTCAGGAAGGAGCCAGAGAAGAACAGGGTTTGGGTGCATCCAGAAATATGCCTGCAGTAGGAG
GGAGAGGAAGGGGTGCCACCGTCAACGGCTTCCCATCGGAGGTGGTTGGTGCAGATGGAAGTTTCTGTCTGCTGGCCCTCAAGAGAGTGT
TTTGCCAGGGACACAGTCTGTTCCTCCTCAGAAAACACCCCCCAAATGCTAACAACATCCCCACCAGCTGCTAGAAGCCCCTTTCCCCTC
CCCACCTTGAAGTAGCTCATAGTTCTCTGGGCAGAGCCAGACCATCCAGTGTACCCCAGAGGCCAGTAGGTTCCTGCCCATTTTCCTCTC
TGGCTTCCTGCCAAGAATTATGGCAGCTGAGGATGAATGGAGAAGTAAAAACAACTAACACCGCACAACTAACAACTAACACCGCAGTTC
CCACCTGGGTTCCACTTAGCAGGAGACATTTCGGAGGGTTTTTTTTGTTTTTGTTCCTGTTTTTTTTTTTTTTGCTGGAATTTGTTTTCT
CAGTACTGAAAAGAGAAAAAGTGACAATCTTGTATTTTTAAAAGCCTCGGAAAGGTGATACCATCTGACAGTCATTTTCTCACGTTGGTC
TTCTAAAGTCACCTATTTCTTGTGTGTGCACATCACACCATTTCCTGTTTCTTTATAACCCGACAAGGGTAGGAGTGCCTGTTTCCCCTG
CTGGGCACACCAGACAATCGTAATCACAAAACAGACACTGAGCCAGGGGCCCAAAGGGTGTGATCATGAGAGTTACCGGGACAGCAGTAG
GCATGACAGTCACCAGGAAGGACAAGGGTGCTCTGTTGTTAGTGGCCACACACCAATTTGACAAGGAGTGTTGCGAAATTTTTATTTATT
TATTTATTTATTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCGGTGGTACAATCTCGGCTCACTGCAACCTCCACCTCCC
AGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAAATTTTGTGTTTTTAGT
AGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTTGAACCCCTGACCTCATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA
CAGGCATGAGCCACCACGCCCAGCCAAAATATTTTTTTAAAGTCATTTTCCTTAAGCTGCTTGGGCTACATGTGAAATACACTGGACGGT
CAACATTCCTGTCTCCTCCCATTTGGGCTGATGCAGCAGATCCAGGGAATGTTACCTGTTTCTGCTGCTAGAAGATCCAGGAAATTGGGA
AGGTTACCTGACGCACACATGGATGAAGGCCATCATCTAGAAATGGGGTCAACCACAATTGTGTTAATTCCGTAGTGTCAGGGATTCTTC
GGGAAGGTCAACAGTATGAAGGATTCTGACCCCTGTGCCTCCCATTTATGTGATCAGGTGACAGTTAATAACCGTGGAGGTCACACTCAG
CCATCCAACAGCCTTACAGTGACCCTACACAAAAGCCCCCAAATTCCAAAGACTTTTTCTTAACCTAAAGGAAGAAATTATTTGTTAATT
CCAGTAGAGCAACTGAATATACTGGGCTATTTGTACTTTTTTATAGAGAACTTTAATAATAATTCTTTAAAAATGAGTTTTTAGAACAAA
GCAACTGACGATTTCCTAAGATTCCAATGCCCTGGAGCTTGTAGGAGGACTTAGCCTGGGTCAGCTGGAGCACCCCCGACCTGATCTCCC
ACTGCCAGATTTTCCCATGCTCCTAGGGTATGGAGTCCACGTGGGAATGACTGCAAGTTCAGGTGGAACTTGGCCGACTGATGCTCTGCG
AGTTTTTAATAGACACTGGGGACAACTGCTTAAGGTTTAGAAACTTCCAAACCACAGGAAAGACATTTTTAGTGTCCCCCATCCAGAGGC
AGCCCTGGAATAGGATTCCCAGGGGTTTCTGGGACCCCTTTCCTTGCTCCGTGAGGCTCTGTGGCCATCTTTTGGCAGGAGGAGGATGCT
TCCTTGGCTCTGTGCCCAGACCCGCCTGGTCCCCAGGTCTCTCACCTTGGGTGAAGATTCAGAGATGCCCTGTAAGGATTTTGCCCACTG
GGCAACTCAGAAATACTTCGATCTCCCAAGATATAAGAGGCAGCAGCAAACGTGCCTATTGACGTCTGTTTCATAGTTACCACTTACGCG
AGTAGACAGAACTCGGCTTTTCAGAAAATAGGTGTCAAGTCCACTTTATAAGAACCTTTTTTTCTAAAATAAGATAAAAGGTGGCTTTGC
ATTTTCTGATTAAACGACTGTGTCTTTGTCACCTCTGCTTAACTTTAGGAGTATCCATTCCTGTGATTGTAGACTTTTGTTGATATTCTT
CCTGGAAGAATATCATTCTTTTCTTGAAGGGTTGGTTTACTAGAATATTCAAAATCAATCATGAAGGCAGTTACTATTTTGAGTCTAAAG
GTTTTCTAAAAATTAACCTCACATCCCTTCTGTTAGGGTCTTTCAGAATATCTTTTATAAACAGAAGCATTTGAAGTCATTGCTTTTGCT
ACATGATTTGTGTGTGTGAAGGACATACCACGTTTAAATCATTAATTGAAAAACATCATATAAGCCCCAACTTTGTTTGGAGGAAGAGAC
GGAGGTTGAGGTTTTTCCTTCTGTATAAGCACCTACTGACAAAATGTAGAGGCCATTCAACCGTCAAACACCATTTGGTTATATCGCAGA
GGAGACGGATGTGTAAATTACTGCATTGCTTTTTTTTTCAGTTTGTATAACCTCTAATCTCCGTTTGCATGATACGCTTTGTTAGAAACA

>1398_1398_1_ACOX1-PRKCA_ACOX1_chr17_73974614_ENST00000293217_PRKCA_chr17_64799990_ENST00000413366_length(amino acids)=187AA_BP=
MPSFMHHRHRDSRGSWLPCPCSPAGQCMIWVRVLTRCSSFDPRGKGLVYRKSLGDKRASPPAQNGAAAGQTPTRPPREEEDPTEEHMRLG
TLVQHPKQPACLKQAAGLGLPCNPNTHKFVSLGNTFTVSAGCYSLRPYGKVFQENAPTGVPSTLPEGQQTSEQTPREKQSKSGPGAVLSC

--------------------------------------------------------------
>1398_1398_2_ACOX1-PRKCA_ACOX1_chr17_73974614_ENST00000301608_PRKCA_chr17_64799990_ENST00000413366_length(transcript)=7201nt_BP=330nt
GGATTTAGATTGTCACTGCCACCTCGGTCGGTGCTTACTTCGCTGCCAGCTGGTCGTCGCCATGAACCCGGACCTGCGCAGGGAGCGGGA
TTCCGCCAGCTTCAACCCGGAGCTGCTTACACACATCCTGGACGGCAGCCCCGAGAAAACCCGGCGCCGCCGAGAGATCGAGAACATGAT
CCTGAACGACCCAGACTTCCAGCATGAGGACTTGAACTTCCTCACTCGCAGCCAGCGTTATGAGGTGGCTGTCAGGAAAAGTGCCATCAT
GGTGAAGAAGATGAGGGAGTTTGGCATCGCTGACCCTGATGAAATTATGTGGTTTAAAAATGTGGCAAAGGAGCAGAGAACTTTGACAAG
TTCTTCACACGAGGACAGCCCGTCTTAACACCACCTGATCAGCTGGTTATTGCTAACATAGACCAGTCTGATTTTGAAGGGTTCTCGTAT
GTCAACCCCCAGTTTGTGCACCCCATCTTACAGAGTGCAGTATGAAACTCACCAGCGAGAACAAACACCTCCCCAGCCCCCAGCCCTCCC
CGCAGTGGGAAGTGAATCCTTAACCCTAAAATTTTAAGGCCACGGCCTTGTGTCTGATTCCATATGGAGGCCTGAAAATTGTAGGGTTAT
TAGTCCAAATGTGATCAACTGTTCAGGGTCTCTCTCTTACAACCAAGAACATTATCTTAGTGGAAGATGGTACGTCATGCTCAGTGTCCA
GTTTAATTCTGTAGAAGTTACGTCTGGCTCTAGGTTAACCCTTCCTAGAAAGCAAGCAGACTGTTGCCCCATTTTGGGTACAATTTGATA
TACTTTCCATACCCTCCATCTGTGGATTTTTCAGCATTGGAATCCCCCAACCAGAGATGTTAAAGTGAGCCTGTCCCAGGAAACATCTCC
ACCCAAGACGTCTTTGGAATCCAAGAACAGGAAGCCAAGAGAGTGAGCAGGGAGGGATTGGGGGTGGGGGAGGCCTCAAAATACCGACTG
CGTCCATTCTCTGCCTCCATGGAAACAGCCCCTAGAATCTGAAAGGCCGGGATAAACCTAATCACTGTTCCCAAACATTGACAAATCCTA
ACCCAACCATGGTCCAGCAGTTACCAGTTTAAACAAAAAAACCTCAGATGAGTGTTGGGTGAATCTGTCATCTGGTACCCTCCTTGGTTG
ATAACTGTCTTGATACTTTTCATTCTTTGTAAGAGGCCAAATCGTCTAAGGACGTTGCTGAACAAGCGTGTGAAATCATTTCAGATCAAG
GATAAGCCAGTGTGTACATATGTTCATTTTAATCTCTGGGAGATTATTTTTCCATCCAGGGTGCCATCAGTAATCATGCCACTACTCACC
AGTGTTGTTCACCAACACCCACCCCCACACACACCAACATTTTGCTGCCTACCTTGTTATCCTTCTCAAGAAGCTGAAGTGTACGCCCTC
TCCCCTTTTGTGCTTATTTATTTAATAGGCTGCAGTGTCGCTTATGAAAGTACGATGTACAGTAACTTAATGGAAGTGCTGACTCTAGCA
TCAGCCTCTACCGATTGATTTTCCTCCCTTCTCTAGCCCTGGATGTCCACTTAGGGATAAAAAGAATATGGTTTTGGTTCCCATTTCTAG
TTCACGTTGAATGACAGGCCTGGAGCTGTAGAATCAGGAAACCCGGATGCCTAACAGCTCAAAGATGTTTTGTTAATAGAAGGATTTTAA
TACGTTTTGCAAATGCATCATGCAATGAATTTTGCATGTTTATAATAAACCTTAATAACAAGTGAATCTATATTATTGATATAATCGTAT
CAAGTATAAAGAGAGTATTATAATAATTTTATAAGACACAATTGTGCTCTATTTGTGCAGGTTCTTGTTTCTAATCCTCTTTTCTAATTA
AGTTTTAGCTGAATCCCTTGCTTCTGTGCTTTCCCTCCCTGCACATGGGCACTGTATCAGATAGATTACTTTTTAAATGTAGATAAAATT
TCAAAAATGAATGGCTAGTTTACGTGATAGATTAGGCTCTTACTACATATGTGTGTGTATATATATGTATTTGATTCTACCTGCAAACAA
ATTTTTATTGGTGAGGACTATTTTTGAGCTGACACTCCCTCTTAGTTTCTTCATGTCACCTTTCGTCCTGGTTCCTCCGCCACTCTTCCT
CTTGGGGACAACAGGAAGTGTCTGATTCCAGTCTGCCTAGTACGTTGGTACACACGTGGCATTGCCGCAGCACCTGGGCTGACCTTTGTG
TGTGCGTGTGTGTGTGTTTCCTTCTTCCCTTCAGCCTGTGACTGTTGCTGACTCCAGGGGTGGGAGGGATGGGGAGACTCCCCTCTTGCT
GTGTGTACTGGACACGCAGGAAGCATGCTGTCTTGCTGCCTCTGCAACGACCTGTCGTTTGCTCCAGCATGCACAAACTTCGTGAGACCA
ACACAGCCGTGCCCTGCAGGCACCAGCACGTGCTTTTCAGAGGCTGCGGACTTTCTTCCAGCCATTGTGGCATTGGCCTTTCCAGTCTTG
GGAGGAGCGCGCTGCTTTGGTGAGACACCCCCATGCAAGGTCCTCAGAGTAGCCGGGTTCTACCACAAACAGAAACAGAATGAAAGTAGC
TGTCAGTCCTTGTAGAGAGCCGCTCTGTTTCCTCCCAGAAGCATCTCCCAGCTAAGCTCGCATTATTTTTCTCCTCTGGCTGTTTGCCTG
AAGTTCACAGAACACACAACCATGAAAGGCTTTTTGAGGTGAGAGGCCCAGGTGGTCCTGGCAACCCTGAGTAGAAGGAGAGACGGGGTA
GGGAACGGGCCCGGCCAGAAAAGAACCATTTCTTCTGCCATCTTTTATGCACCATAGACATCGAGACTCCAGGGGGTCCTGGCTCCCCTG
TCCCTGCAGCCCTGCAGGTCAGTGCATGATCTGGGTTCGTGTCCTGACCAGGTGCTCCTCCTTTGATCCGAGGGGAAAGGGACTGGTTTA
TAGAAAGAGCCTAGGAGACAAAAGGGCCAGTCCCCCTGCCCAGAATGGAGCAGCAGCAGGACAGACCCCCACGAGGCCCCCCAGAGAGGA
GGAAGATCCCACGGAGGAACACATGAGGTTAGGGACCCTTGTTCAGCACCCCAAACAGCCTGCCTGTTTAAAGCAGGCAGCAGGCTTAGG
CCTTCCCTGCAACCCCAACACCCACAAGTTTGTTTCTCTAGGAAACACATTCACTGTCTCAGCTGGCTGTTACTCTCTCAGACCATATGG
CAAAGTTTTCCAAGAAAATGCCCCGACAGGGGTGCCCAGCACACTGCCTGAGGGACAACAGACATCAGAACAAACCCCCAGAGAGAAACA
GTCAAAATCAGGGCCCGGTGCAGTGTTGTCATGTGGAACCTGCTTTATCCATTGCTGAGTGTTGAATGTGGGTAATGGTTAGGGCTTTCC
AGATCTCAGCAGCCAAAGACAGTTATTGTTGGAAGACTGTCATGTAGATAACCATGAGCAATGGCTCGCCTCAGAATCAGTTCATAAAAT
TCTATGGTACTGGCCCCTTCGTGGGTATTGTGTGAAATGAGATGGTGGCGAGGGGTGCGCTGTGGAACTGCCGCAGCCACGCAGGAGGTC
CCTGGGGGATGCTTTGGGAAGTCCTTGCCCCTGAGCACTGCCTGATTGCCAGGGCCTGTGGAGGTCTAGGCCGCCTGGCAGAATCTAGCA
CCGTCCGAATCCCCGCAGGACCCATGGAGCTATGACCACACCAGGCCATTCAAATGGCTCTGCATTATCTTCCCTTGGAAGGTGGCCACT
CCTCGGTGGCAGGGCCTTTCCCTGAGGCTGCAGGCCGTGGGCTGGCAGCCCGTCTCTTGGCATTTCAATTGAAGGTCACCAGGTGCTGGG
TTTGAAAGGAAGTCACTGGAGTGCTGCCAGGGGCCGCCCTCCAAGGTTAATGAGAGGCCCACATCCAGGCAAGAACTAATTCAAAAGGCA
GATCAGAAACCACAGGAGTCAAAATTATTGCTCCGGCAGTGCTTCCCTTCCTTTCATCCACTGGCCTCGTGTGGTCCATGCAGGGCCACT
GTCTGCCCTTTCTGATGCCACGTATTAGGCTTTCTTACTCAGAATTTTGATAGAAAACCATGGGGCCAAGAGCTCTGGAAGCCTGGCCGG
AAAGACCAAGGTTCATGCAGCCCAACAAATGATTGTTGAGCACCTCTCGGAGCCAAAGTCCTTAGGCGAGTGTGGTGACTTCCTGGAAGG
AGGATGCAGACTTCCAGAGAGCCCCCCCAACGGACGTGCTGAGAAGGGAGAGGGAGGCGGGGGCTGTAGTCAGGAAGGAGCCAGAGAAGA
ACAGGGTTTGGGTGCATCCAGAAATATGCCTGCAGTAGGAGGGAGAGGAAGGGGTGCCACCGTCAACGGCTTCCCATCGGAGGTGGTTGG
TGCAGATGGAAGTTTCTGTCTGCTGGCCCTCAAGAGAGTGTTTTGCCAGGGACACAGTCTGTTCCTCCTCAGAAAACACCCCCCAAATGC
TAACAACATCCCCACCAGCTGCTAGAAGCCCCTTTCCCCTCCCCACCTTGAAGTAGCTCATAGTTCTCTGGGCAGAGCCAGACCATCCAG
TGTACCCCAGAGGCCAGTAGGTTCCTGCCCATTTTCCTCTCTGGCTTCCTGCCAAGAATTATGGCAGCTGAGGATGAATGGAGAAGTAAA
AACAACTAACACCGCACAACTAACAACTAACACCGCAGTTCCCACCTGGGTTCCACTTAGCAGGAGACATTTCGGAGGGTTTTTTTTGTT
TTTGTTCCTGTTTTTTTTTTTTTTGCTGGAATTTGTTTTCTCAGTACTGAAAAGAGAAAAAGTGACAATCTTGTATTTTTAAAAGCCTCG
GAAAGGTGATACCATCTGACAGTCATTTTCTCACGTTGGTCTTCTAAAGTCACCTATTTCTTGTGTGTGCACATCACACCATTTCCTGTT
TCTTTATAACCCGACAAGGGTAGGAGTGCCTGTTTCCCCTGCTGGGCACACCAGACAATCGTAATCACAAAACAGACACTGAGCCAGGGG
CCCAAAGGGTGTGATCATGAGAGTTACCGGGACAGCAGTAGGCATGACAGTCACCAGGAAGGACAAGGGTGCTCTGTTGTTAGTGGCCAC
ACACCAATTTGACAAGGAGTGTTGCGAAATTTTTATTTATTTATTTATTTATTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAG
TGCGGTGGTACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACA
GGTGCGTGCCACCACACCCAGCTAAATTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTTGAACCCCTGACC
TCATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAAAATATTTTTTTAAAGTCATTTT
CCTTAAGCTGCTTGGGCTACATGTGAAATACACTGGACGGTCAACATTCCTGTCTCCTCCCATTTGGGCTGATGCAGCAGATCCAGGGAA
TGTTACCTGTTTCTGCTGCTAGAAGATCCAGGAAATTGGGAAGGTTACCTGACGCACACATGGATGAAGGCCATCATCTAGAAATGGGGT
CAACCACAATTGTGTTAATTCCGTAGTGTCAGGGATTCTTCGGGAAGGTCAACAGTATGAAGGATTCTGACCCCTGTGCCTCCCATTTAT
GTGATCAGGTGACAGTTAATAACCGTGGAGGTCACACTCAGCCATCCAACAGCCTTACAGTGACCCTACACAAAAGCCCCCAAATTCCAA
AGACTTTTTCTTAACCTAAAGGAAGAAATTATTTGTTAATTCCAGTAGAGCAACTGAATATACTGGGCTATTTGTACTTTTTTATAGAGA
ACTTTAATAATAATTCTTTAAAAATGAGTTTTTAGAACAAAGCAACTGACGATTTCCTAAGATTCCAATGCCCTGGAGCTTGTAGGAGGA
CTTAGCCTGGGTCAGCTGGAGCACCCCCGACCTGATCTCCCACTGCCAGATTTTCCCATGCTCCTAGGGTATGGAGTCCACGTGGGAATG
ACTGCAAGTTCAGGTGGAACTTGGCCGACTGATGCTCTGCGAGTTTTTAATAGACACTGGGGACAACTGCTTAAGGTTTAGAAACTTCCA
AACCACAGGAAAGACATTTTTAGTGTCCCCCATCCAGAGGCAGCCCTGGAATAGGATTCCCAGGGGTTTCTGGGACCCCTTTCCTTGCTC
CGTGAGGCTCTGTGGCCATCTTTTGGCAGGAGGAGGATGCTTCCTTGGCTCTGTGCCCAGACCCGCCTGGTCCCCAGGTCTCTCACCTTG
GGTGAAGATTCAGAGATGCCCTGTAAGGATTTTGCCCACTGGGCAACTCAGAAATACTTCGATCTCCCAAGATATAAGAGGCAGCAGCAA
ACGTGCCTATTGACGTCTGTTTCATAGTTACCACTTACGCGAGTAGACAGAACTCGGCTTTTCAGAAAATAGGTGTCAAGTCCACTTTAT
AAGAACCTTTTTTTCTAAAATAAGATAAAAGGTGGCTTTGCATTTTCTGATTAAACGACTGTGTCTTTGTCACCTCTGCTTAACTTTAGG
AGTATCCATTCCTGTGATTGTAGACTTTTGTTGATATTCTTCCTGGAAGAATATCATTCTTTTCTTGAAGGGTTGGTTTACTAGAATATT
CAAAATCAATCATGAAGGCAGTTACTATTTTGAGTCTAAAGGTTTTCTAAAAATTAACCTCACATCCCTTCTGTTAGGGTCTTTCAGAAT
ATCTTTTATAAACAGAAGCATTTGAAGTCATTGCTTTTGCTACATGATTTGTGTGTGTGAAGGACATACCACGTTTAAATCATTAATTGA
AAAACATCATATAAGCCCCAACTTTGTTTGGAGGAAGAGACGGAGGTTGAGGTTTTTCCTTCTGTATAAGCACCTACTGACAAAATGTAG
AGGCCATTCAACCGTCAAACACCATTTGGTTATATCGCAGAGGAGACGGATGTGTAAATTACTGCATTGCTTTTTTTTTCAGTTTGTATA
ACCTCTAATCTCCGTTTGCATGATACGCTTTGTTAGAAACATTAATTGTAGTTTGGAAGCAAGTGTGTATGAATAAAGATAATGATCATT

>1398_1398_2_ACOX1-PRKCA_ACOX1_chr17_73974614_ENST00000301608_PRKCA_chr17_64799990_ENST00000413366_length(amino acids)=187AA_BP=
MPSFMHHRHRDSRGSWLPCPCSPAGQCMIWVRVLTRCSSFDPRGKGLVYRKSLGDKRASPPAQNGAAAGQTPTRPPREEEDPTEEHMRLG
TLVQHPKQPACLKQAAGLGLPCNPNTHKFVSLGNTFTVSAGCYSLRPYGKVFQENAPTGVPSTLPEGQQTSEQTPREKQSKSGPGAVLSC

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Fusion Gene PPI Analysis for ACOX1-PRKCA


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 ACOX1-PRKCA


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 ACOX1-PRKCA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACOX1C1849678Peroxisomal ACYL-COA oxidase deficiency7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneACOX1C2239176Liver carcinoma2CTD_human
HgeneACOX1C0002152Alloxan Diabetes1CTD_human
HgeneACOX1C0011853Diabetes Mellitus, Experimental1CTD_human
HgeneACOX1C0038433Streptozotocin Diabetes1CTD_human
TgeneC0036341Schizophrenia2PSYGENET
TgeneC0002152Alloxan Diabetes1CTD_human
TgeneC0011853Diabetes Mellitus, Experimental1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0021841Intestinal Neoplasms1CTD_human
TgeneC0032617Polyuria1CTD_human
TgeneC0033975Psychotic Disorders1PSYGENET
TgeneC0036337Schizoaffective Disorder1PSYGENET
TgeneC0038433Streptozotocin Diabetes1CTD_human
TgeneC0162283Nephrogenic Diabetes Insipidus1CTD_human
TgeneC0264423Asthma, Occupational1CTD_human
TgeneC0268443Acquired Nephrogenic Diabetes Insipidus1CTD_human
TgeneC0346627Intestinal Cancer1CTD_human
TgeneC0349204Nonorganic psychosis1PSYGENET
TgeneC0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneC0677501Congenital Nephrogenic Diabetes Insipidus1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1563705Nephrogenic Diabetes Insipidus, Type I1CTD_human
TgeneC1563706Nephrogenic Diabetes Insipidus, Type II1CTD_human
TgeneC3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneC3542500ADH-Resistant Diabetes Insipidus1CTD_human