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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:ETHE1-UGT2A3 (FusionGDB2 ID:27652)

Fusion Gene Summary for ETHE1-UGT2A3

check button Fusion gene summary
Fusion gene informationFusion gene name: ETHE1-UGT2A3
Fusion gene ID: 27652
HgeneTgene
Gene symbol

ETHE1

UGT2A3

Gene ID

23474

79799

Gene nameETHE1 persulfide dioxygenaseUDP glucuronosyltransferase family 2 member A3
SynonymsHSCO|YF13H12-
Cytomap

19q13.31

4q13.2

Type of geneprotein-codingprotein-coding
Descriptionpersulfide dioxygenase ETHE1, mitochondrialethylmalonic encephalopathy 1hepatoma subtracted clone one proteinprotein ETHE1, mitochondrialsulfur dioxygenase ETHE1UDP-glucuronosyltransferase 2A3UDP glucuronosyltransferase 2 family, polypeptide A3UDPGT 2A3
Modification date2020031320200313
UniProtAcc

O95571

.
Ensembl transtripts involved in fusion geneENST00000292147, ENST00000600651, 
ENST00000420231, ENST00000547910, 
ENST00000251566, 
Fusion gene scores* DoF score10 X 7 X 8=5604 X 4 X 3=48
# samples 117
** MAII scorelog2(11/560*10)=-2.34792330342031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/48*10)=0.54432051622381
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ETHE1 [Title/Abstract] AND UGT2A3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointETHE1(44030353)-UGT2A3(69798477), # 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
HgeneETHE1

GO:0006749

glutathione metabolic process

23144459

HgeneETHE1

GO:0070813

hydrogen sulfide metabolic process

23144459

TgeneUGT2A3

GO:0052695

cellular glucuronidation

19858781


check buttonFusion gene breakpoints across ETHE1 (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 UGT2A3 (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 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
ChimerDB4BRCATCGA-EW-A1OY-01AETHE1chr19

44030353

-UGT2A3chr4

69798477

-


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Fusion Gene ORF analysis for ETHE1-UGT2A3

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-5UTRENST00000292147ENST00000420231ETHE1chr19

44030353

-UGT2A3chr4

69798477

-
5CDS-5UTRENST00000600651ENST00000420231ETHE1chr19

44030353

-UGT2A3chr4

69798477

-
5CDS-intronENST00000292147ENST00000547910ETHE1chr19

44030353

-UGT2A3chr4

69798477

-
5CDS-intronENST00000600651ENST00000547910ETHE1chr19

44030353

-UGT2A3chr4

69798477

-
In-frameENST00000292147ENST00000251566ETHE1chr19

44030353

-UGT2A3chr4

69798477

-
In-frameENST00000600651ENST00000251566ETHE1chr19

44030353

-UGT2A3chr4

69798477

-

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)
ENST00000292147ETHE1chr1944030353-ENST00000251566UGT2A3chr469798477-2512442671161364
ENST00000600651ETHE1chr1944030353-ENST00000251566UGT2A3chr469798477-2469399241118364

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
ENST00000292147ENST00000251566ETHE1chr1944030353-UGT2A3chr469798477-9.54E-050.9999045
ENST00000600651ENST00000251566ETHE1chr1944030353-UGT2A3chr469798477-8.56E-050.9999144

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Fusion Genomic Features for ETHE1-UGT2A3


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)

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.

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Fusion Protein Features for ETHE1-UGT2A3


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/chr19:44030353/chr4:69798477)
- 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
ETHE1

O95571

.
FUNCTION: Sulfur dioxygenase that plays an essential role in hydrogen sulfide catabolism in the mitochondrial matrix. Hydrogen sulfide (H(2)S) is first oxidized by SQRDL, giving rise to cysteine persulfide residues. ETHE1 consumes molecular oxygen to catalyze the oxidation of the persulfide, once it has been transferred to a thiophilic acceptor, such as glutathione (R-SSH). Plays an important role in metabolic homeostasis in mitochondria by metabolizing hydrogen sulfide and preventing the accumulation of supraphysiological H(2)S levels that have toxic effects, due to the inhibition of cytochrome c oxidase. First described as a protein that can shuttle between the nucleus and the cytoplasm and suppress p53-induced apoptosis by sequestering the transcription factor RELA/NFKB3 in the cytoplasm and preventing its accumulation in the nucleus (PubMed:12398897). {ECO:0000269|PubMed:12398897, ECO:0000269|PubMed:14732903, ECO:0000269|PubMed:19136963, ECO:0000269|PubMed:23144459}.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
TgeneUGT2A3chr19:44030353chr4:69798477ENST0000025156616513_527288528.0Topological domainCytoplasmic
TgeneUGT2A3chr19:44030353chr4:69798477ENST0000025156616492_512288528.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneUGT2A3chr19:44030353chr4:69798477ENST000002515661624_491288528.0Topological domainExtracellular


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Fusion Gene Sequence for ETHE1-UGT2A3


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.
>27652_27652_1_ETHE1-UGT2A3_ETHE1_chr19_44030353_ENST00000292147_UGT2A3_chr4_69798477_ENST00000251566_length(transcript)=2512nt_BP=442nt
AGTGCCGTAGCGCCCGGCTCCTGCAGGCGCTCGGCCTCCGCTCATTCCTGACCCCGCAGTGGGCGCGATGGCGGAGGCTGTACTGAGGGT
CGCCCGGCGGCAGCTGAGCCAGCGCGGCGGGTCTGGAGCCCCCATCCTCCTGCGGCAGATGTTCGAGCCTGTGAGCTGCACCTTCACGTA
CCTGCTGGGTGACAGAGAGTCCCGGGAGGCCGTTCTGATCGACCCAGTCCTGGAAACAGCGCCTCGGGATGCCCAGCTGATCAAGGAGCT
GGGGCTGCGGCTGCTCTATGCTGTGAATACCCACTGCCACGCGGACCACATTACAGGCTCGGGGCTGCTCCGTTCCCTCCTCCCTGGCTG
CCAGTCTGTCATCTCCCGCCTTAGTGGGGCCCAGGCTGACTTACACATTGAGGATGGAGACTCCATCCGCTTCGGGCGCTTCGAAATGGA
AAATTTTGTCCAGAGTTCAGGGGAAGATGGTATTGTGGTGTTTTCTCTGGGGTCACTGTTTCAAAATGTTACAGAAGAAAAGGCTAATAT
CATTGCTTCAGCCCTTGCCCAGATCCCACAGAAGGTGTTATGGAGGTACAAAGGAAAAAAACCATCCACATTAGGAGCCAATACTCGGCT
GTATGATTGGATACCCCAGAATGATCTTCTTGGTCATCCCAAAACCAAAGCTTTTATCACTCATGGTGGAATGAATGGGATCTATGAAGC
TATTTACCATGGGGTCCCTATGGTGGGAGTTCCCATATTTGGTGATCAGCTTGATAACATAGCTCACATGAAGGCCAAAGGAGCAGCTGT
AGAAATAAACTTCAAAACTATGACAAGCGAAGATTTACTGAGGGCTTTGAGAACAGTCATTACCGATTCCTCTTATAAAGAGAATGCTAT
GAGATTATCAAGAATTCACCATGATCAACCTGTAAAGCCCCTAGATCGAGCAGTCTTCTGGATCGAGTTTGTCATGCGCCACAAAGGAGC
CAAGCACCTGCGATCAGCTGCCCATGACCTCACCTGGTTCCAGCACTACTCTATAGATGTGATTGGGTTCCTGCTGGCCTGTGTGGCAAC
TGCTATATTCTTGTTCACAAAATGTTTTTTATTTTCCTGTCAAAAATTTAATAAAACTAGAAAGATAGAAAAGAGGGAATAGATCTTTCC
AAATTCAAGAAAGACCTGATGGGGTAATCCTGTTAATTCCAGCCACATAGAATTTGGTGAAAACCTTGCTATTTTCATATTATCTATTCT
GTTATTTTATCTTAGCTATATAGCCTAGAATTCCACGATCATGAGGTTGTGAGTATATCTCATTCTTTCGTTGTATTTTCCTAGGTGTCT
TTACTCTCTTCTCTCACTTTGTGACACAAGGACATGAATACATCTAAATTTTCCTATTTCTGATATGACTGTTTTGATGATGTCATTACT
TCTATAACCTTAAGTGATAGGGTGACATGCAATATGATTATTCCTGGTGTGCGCCCAAACACATGGATATAAAGAGGTAAAAAACTTAAA
ATTCACAAAATTCAGTAAACCACACAAATCAGGTAAGTGTTCTATGAGATTAGCTGGCTATGAGAAACATAATGATGTTTCTTTTTCAAT
TTAAATAAGCCCTTCTACATAGCCAGCATCAGTGATCTCAGAAAATAAATTGCTAATAATGATGACATGGCATTATGCTTAGAAAAGTTT
GCTGTATTTCCATAGACCTCATCTAGATGTCATGGCCTACATTTCTGCCATCACTCAACCAATACTTTTTTCTGTTTTCTTGATGATAAA
AAGACCTTTCTCATGATTGCCATCAAATAACAAAAGAAACTATTTTTTTTCTCACATAGAGAACATGTCAGTAAGATATTCAAGGTGAAC
AGATTATTTTTGGGATTAGTAACTATTTGAAATATGTGGTGATAATTACTGAGTTTATAAAATTTATTTGATAGTACACTTAAAGAAGAT
TTATATGTTTATTCTTTAAAAATGATGAATACTCATAATTCTTATCTCTATAATCAAAAGTATAATTTACTGTAGAAAAATAAAGAGATG
CTTGTTCTGAAAGTAAGATCAGTGAACTGCTTTTCAGTCTCAATCTTTGAGAATTGTAAATTCATCAAATAATTGCTTACATAGTAAAAA
TTTAAGGTATTAGAAAACCTGCATAACAAATAGTATTATATATTAAATATTTTGATATGTAAAGCTCTACACAAAGCTAAATATAGTGTA
ATAATGTTTACACTAATAAGCAAATATGTTAATCTTCTCATTTTTTTACTGTCATATAATCTTAGTGATATGCCTATTAATAGTTTTAAA
TAAATAAATTGGCTCATCTGGCTTTTTGAAAATTTTGAAATTCTTACAGATGTTGATTAGGTATATCTACAAATTAATTTCAATTTTAAA

>27652_27652_1_ETHE1-UGT2A3_ETHE1_chr19_44030353_ENST00000292147_UGT2A3_chr4_69798477_ENST00000251566_length(amino acids)=364AA_BP=125
MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGL
LRSLLPGCQSVISRLSGAQADLHIEDGDSIRFGRFEMENFVQSSGEDGIVVFSLGSLFQNVTEEKANIIASALAQIPQKVLWRYKGKKPS
TLGANTRLYDWIPQNDLLGHPKTKAFITHGGMNGIYEAIYHGVPMVGVPIFGDQLDNIAHMKAKGAAVEINFKTMTSEDLLRALRTVITD
SSYKENAMRLSRIHHDQPVKPLDRAVFWIEFVMRHKGAKHLRSAAHDLTWFQHYSIDVIGFLLACVATAIFLFTKCFLFSCQKFNKTRKI

--------------------------------------------------------------
>27652_27652_2_ETHE1-UGT2A3_ETHE1_chr19_44030353_ENST00000600651_UGT2A3_chr4_69798477_ENST00000251566_length(transcript)=2469nt_BP=399nt
ATTCCTGACCCCGCAGTGGGCGCGATGGCGGAGGCTGTACTGAGGGTCGCCCGGCGGCAGCTGAGCCAGCGCGGCGGGTCTGGAGCCCCC
ATCCTCCTGCGGCAGATGTTCGAGCCTGTGAGCTGCACCTTCACGTACCTGCTGGGTGACAGAGAGTCCCGGGAGGCCGTTCTGATCGAC
CCAGTCCTGGAAACAGCGCCTCGGGATGCCCAGCTGATCAAGGAGCTGGGGCTGCGGCTGCTCTATGCTGTGAATACCCACTGCCACGCG
GACCACATTACAGGCTCGGGGCTGCTCCGTTCCCTCCTCCCTGGCTGCCAGTCTGTCATCTCCCGCCTTAGTGGGGCCCAGGCTGACTTA
CACATTGAGGATGGAGACTCCATCCGCTTCGGGCGCTTCGAAATGGAAAATTTTGTCCAGAGTTCAGGGGAAGATGGTATTGTGGTGTTT
TCTCTGGGGTCACTGTTTCAAAATGTTACAGAAGAAAAGGCTAATATCATTGCTTCAGCCCTTGCCCAGATCCCACAGAAGGTGTTATGG
AGGTACAAAGGAAAAAAACCATCCACATTAGGAGCCAATACTCGGCTGTATGATTGGATACCCCAGAATGATCTTCTTGGTCATCCCAAA
ACCAAAGCTTTTATCACTCATGGTGGAATGAATGGGATCTATGAAGCTATTTACCATGGGGTCCCTATGGTGGGAGTTCCCATATTTGGT
GATCAGCTTGATAACATAGCTCACATGAAGGCCAAAGGAGCAGCTGTAGAAATAAACTTCAAAACTATGACAAGCGAAGATTTACTGAGG
GCTTTGAGAACAGTCATTACCGATTCCTCTTATAAAGAGAATGCTATGAGATTATCAAGAATTCACCATGATCAACCTGTAAAGCCCCTA
GATCGAGCAGTCTTCTGGATCGAGTTTGTCATGCGCCACAAAGGAGCCAAGCACCTGCGATCAGCTGCCCATGACCTCACCTGGTTCCAG
CACTACTCTATAGATGTGATTGGGTTCCTGCTGGCCTGTGTGGCAACTGCTATATTCTTGTTCACAAAATGTTTTTTATTTTCCTGTCAA
AAATTTAATAAAACTAGAAAGATAGAAAAGAGGGAATAGATCTTTCCAAATTCAAGAAAGACCTGATGGGGTAATCCTGTTAATTCCAGC
CACATAGAATTTGGTGAAAACCTTGCTATTTTCATATTATCTATTCTGTTATTTTATCTTAGCTATATAGCCTAGAATTCCACGATCATG
AGGTTGTGAGTATATCTCATTCTTTCGTTGTATTTTCCTAGGTGTCTTTACTCTCTTCTCTCACTTTGTGACACAAGGACATGAATACAT
CTAAATTTTCCTATTTCTGATATGACTGTTTTGATGATGTCATTACTTCTATAACCTTAAGTGATAGGGTGACATGCAATATGATTATTC
CTGGTGTGCGCCCAAACACATGGATATAAAGAGGTAAAAAACTTAAAATTCACAAAATTCAGTAAACCACACAAATCAGGTAAGTGTTCT
ATGAGATTAGCTGGCTATGAGAAACATAATGATGTTTCTTTTTCAATTTAAATAAGCCCTTCTACATAGCCAGCATCAGTGATCTCAGAA
AATAAATTGCTAATAATGATGACATGGCATTATGCTTAGAAAAGTTTGCTGTATTTCCATAGACCTCATCTAGATGTCATGGCCTACATT
TCTGCCATCACTCAACCAATACTTTTTTCTGTTTTCTTGATGATAAAAAGACCTTTCTCATGATTGCCATCAAATAACAAAAGAAACTAT
TTTTTTTCTCACATAGAGAACATGTCAGTAAGATATTCAAGGTGAACAGATTATTTTTGGGATTAGTAACTATTTGAAATATGTGGTGAT
AATTACTGAGTTTATAAAATTTATTTGATAGTACACTTAAAGAAGATTTATATGTTTATTCTTTAAAAATGATGAATACTCATAATTCTT
ATCTCTATAATCAAAAGTATAATTTACTGTAGAAAAATAAAGAGATGCTTGTTCTGAAAGTAAGATCAGTGAACTGCTTTTCAGTCTCAA
TCTTTGAGAATTGTAAATTCATCAAATAATTGCTTACATAGTAAAAATTTAAGGTATTAGAAAACCTGCATAACAAATAGTATTATATAT
TAAATATTTTGATATGTAAAGCTCTACACAAAGCTAAATATAGTGTAATAATGTTTACACTAATAAGCAAATATGTTAATCTTCTCATTT
TTTTACTGTCATATAATCTTAGTGATATGCCTATTAATAGTTTTAAATAAATAAATTGGCTCATCTGGCTTTTTGAAAATTTTGAAATTC
TTACAGATGTTGATTAGGTATATCTACAAATTAATTTCAATTTTAAAATGATGATATAAAAATAAATATAAGTATTTTTCTTGTGTATGT

>27652_27652_2_ETHE1-UGT2A3_ETHE1_chr19_44030353_ENST00000600651_UGT2A3_chr4_69798477_ENST00000251566_length(amino acids)=364AA_BP=125
MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGL
LRSLLPGCQSVISRLSGAQADLHIEDGDSIRFGRFEMENFVQSSGEDGIVVFSLGSLFQNVTEEKANIIASALAQIPQKVLWRYKGKKPS
TLGANTRLYDWIPQNDLLGHPKTKAFITHGGMNGIYEAIYHGVPMVGVPIFGDQLDNIAHMKAKGAAVEINFKTMTSEDLLRALRTVITD
SSYKENAMRLSRIHHDQPVKPLDRAVFWIEFVMRHKGAKHLRSAAHDLTWFQHYSIDVIGFLLACVATAIFLFTKCFLFSCQKFNKTRKI

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Fusion Gene PPI Analysis for ETHE1-UGT2A3


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 ETHE1-UGT2A3


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 ETHE1-UGT2A3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource