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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:DUOXA2-SLC39A1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: DUOXA2-SLC39A1
FusionPDB ID: 24437
FusionGDB2.0 ID: 24437
HgeneTgene
Gene symbol

DUOXA2

SLC39A1

Gene ID

405753

27173

Gene namedual oxidase maturation factor 2solute carrier family 39 member 1
SynonymsSIMNIPHOM|TDH5ZIP1|ZIRTL
Cytomap

15q21.1

1q21.3

Type of geneprotein-codingprotein-coding
Descriptiondual oxidase maturation factor 2zinc transporter ZIP1solute carrier family 39 (zinc transporter), member 1solute carrier family 39 (zinc transporter), member 3zrt- and Irt-like protein 1
Modification date2020031320200313
UniProtAcc

Q1HG44

.
Ensembl transtripts involved in fusion geneENST idsENST00000323030, ENST00000461071, 
ENST00000537590, ENST00000310483, 
ENST00000356205, ENST00000368621, 
ENST00000368623, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score2 X 2 X 2=84 X 4 X 2=32
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: DUOXA2 [Title/Abstract] AND SLC39A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)DUOXA2(45408456)-SLC39A1(153934826), # samples:1
Anticipated loss of major functional domain due to fusion event.DUOXA2-SLC39A1 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.
DUOXA2-SLC39A1 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.
* 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
HgeneDUOXA2

GO:0010729

positive regulation of hydrogen peroxide biosynthetic process

16651268

HgeneDUOXA2

GO:2000147

positive regulation of cell motility

19339556


check buttonFusion gene breakpoints across DUOXA2 (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 SLC39A1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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-Cancer201NDUOXA2chr15

45408456

+SLC39A1chr1

153934826

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000323030DUOXA2chr1545408456+ENST00000356205SLC39A1chr1153934826-24126252851412375
ENST00000323030DUOXA2chr1545408456+ENST00000368623SLC39A1chr1153934826-24016252851412375
ENST00000323030DUOXA2chr1545408456+ENST00000368621SLC39A1chr1153934826-24006252851412375
ENST00000323030DUOXA2chr1545408456+ENST00000310483SLC39A1chr1153934826-23996252851412375

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
ENST00000323030ENST00000356205DUOXA2chr1545408456+SLC39A1chr1153934826-0.038845770.9611542
ENST00000323030ENST00000368623DUOXA2chr1545408456+SLC39A1chr1153934826-0.0411153320.95888466
ENST00000323030ENST00000368621DUOXA2chr1545408456+SLC39A1chr1153934826-0.0410546660.9589453
ENST00000323030ENST00000310483DUOXA2chr1545408456+SLC39A1chr1153934826-0.040908510.9590914

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>24437_24437_1_DUOXA2-SLC39A1_DUOXA2_chr15_45408456_ENST00000323030_SLC39A1_chr1_153934826_ENST00000310483_length(amino acids)=375AA_BP=113
MTLWNGVLPFYPQPRHAAGFSVPLLIVILVFLALAASFLLILPGIRGHSRWFWLVRVLLSLFIGAEIVAVHFSAEWFVGTVNTNTSYKAF
SAARVTARVRLLVGLEGINITLTASRQKALSLVSCFAGGVFLATCLLDLLPDYLAAIDEALAALHVTLQFPLQEFILAMGFFLVLVMEQI
TLAYKEQSGPSPLEETRALLGTVNGGPQHWHDGPGVPQASGAPATPSALRACVLVFSLALHSVFEGLAVGLQRDRARAMELCLALLLHKG
ILAVSLSLRLLQSHLRAQVVAGCGILFSCMTPLGIGLGAALAESAGPLHQLAQSVLEGMAAGTFLYITFLEILPQELASSEQRILKVILL

--------------------------------------------------------------

>24437_24437_2_DUOXA2-SLC39A1_DUOXA2_chr15_45408456_ENST00000323030_SLC39A1_chr1_153934826_ENST00000356205_length(amino acids)=375AA_BP=113
MTLWNGVLPFYPQPRHAAGFSVPLLIVILVFLALAASFLLILPGIRGHSRWFWLVRVLLSLFIGAEIVAVHFSAEWFVGTVNTNTSYKAF
SAARVTARVRLLVGLEGINITLTASRQKALSLVSCFAGGVFLATCLLDLLPDYLAAIDEALAALHVTLQFPLQEFILAMGFFLVLVMEQI
TLAYKEQSGPSPLEETRALLGTVNGGPQHWHDGPGVPQASGAPATPSALRACVLVFSLALHSVFEGLAVGLQRDRARAMELCLALLLHKG
ILAVSLSLRLLQSHLRAQVVAGCGILFSCMTPLGIGLGAALAESAGPLHQLAQSVLEGMAAGTFLYITFLEILPQELASSEQRILKVILL

--------------------------------------------------------------

>24437_24437_3_DUOXA2-SLC39A1_DUOXA2_chr15_45408456_ENST00000323030_SLC39A1_chr1_153934826_ENST00000368621_length(amino acids)=375AA_BP=113
MTLWNGVLPFYPQPRHAAGFSVPLLIVILVFLALAASFLLILPGIRGHSRWFWLVRVLLSLFIGAEIVAVHFSAEWFVGTVNTNTSYKAF
SAARVTARVRLLVGLEGINITLTASRQKALSLVSCFAGGVFLATCLLDLLPDYLAAIDEALAALHVTLQFPLQEFILAMGFFLVLVMEQI
TLAYKEQSGPSPLEETRALLGTVNGGPQHWHDGPGVPQASGAPATPSALRACVLVFSLALHSVFEGLAVGLQRDRARAMELCLALLLHKG
ILAVSLSLRLLQSHLRAQVVAGCGILFSCMTPLGIGLGAALAESAGPLHQLAQSVLEGMAAGTFLYITFLEILPQELASSEQRILKVILL

--------------------------------------------------------------

>24437_24437_4_DUOXA2-SLC39A1_DUOXA2_chr15_45408456_ENST00000323030_SLC39A1_chr1_153934826_ENST00000368623_length(amino acids)=375AA_BP=113
MTLWNGVLPFYPQPRHAAGFSVPLLIVILVFLALAASFLLILPGIRGHSRWFWLVRVLLSLFIGAEIVAVHFSAEWFVGTVNTNTSYKAF
SAARVTARVRLLVGLEGINITLTASRQKALSLVSCFAGGVFLATCLLDLLPDYLAAIDEALAALHVTLQFPLQEFILAMGFFLVLVMEQI
TLAYKEQSGPSPLEETRALLGTVNGGPQHWHDGPGVPQASGAPATPSALRACVLVFSLALHSVFEGLAVGLQRDRARAMELCLALLLHKG
ILAVSLSLRLLQSHLRAQVVAGCGILFSCMTPLGIGLGAALAESAGPLHQLAQSVLEGMAAGTFLYITFLEILPQELASSEQRILKVILL

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr15:45408456/chr1:153934826)
- 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
DUOXA2

Q1HG44

.
FUNCTION: Required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX2. May play a role in thyroid hormone synthesis. {ECO:0000269|PubMed:16651268}.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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDUOXA2chr15:45408456chr1:153934826ENST00000323030+361_21113.33333333333333321.0Topological domainExtracellular
HgeneDUOXA2chr15:45408456chr1:153934826ENST00000323030+3643_56113.33333333333333321.0Topological domainCytoplasmic
HgeneDUOXA2chr15:45408456chr1:153934826ENST00000323030+3622_42113.33333333333333321.0TransmembraneHelical
HgeneDUOXA2chr15:45408456chr1:153934826ENST00000323030+3657_77113.33333333333333321.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000031048325190_19162.333333333333336325.0RegionHeavy metals binding
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000035620514190_19162.333333333333336325.0RegionHeavy metals binding
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862114190_19162.333333333333336325.0RegionHeavy metals binding
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862303190_19162.333333333333336325.0RegionHeavy metals binding
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000031048325126_17962.333333333333336325.0Topological domainCytoplasmic
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000031048325201_20662.333333333333336325.0Topological domainExtracellular
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000031048325228_23762.333333333333336325.0Topological domainCytoplasmic
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000031048325259_27262.333333333333336325.0Topological domainExtracellular
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000031048325294_30362.333333333333336325.0Topological domainCytoplasmic
TgeneSLC39A1chr15:45408456chr1:153934826ENST000003104832590_10462.333333333333336325.0Topological domainExtracellular
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000035620514126_17962.333333333333336325.0Topological domainCytoplasmic
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000035620514201_20662.333333333333336325.0Topological domainExtracellular
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000035620514228_23762.333333333333336325.0Topological domainCytoplasmic
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000035620514259_27262.333333333333336325.0Topological domainExtracellular
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000035620514294_30362.333333333333336325.0Topological domainCytoplasmic
TgeneSLC39A1chr15:45408456chr1:153934826ENST000003562051490_10462.333333333333336325.0Topological domainExtracellular
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862114126_17962.333333333333336325.0Topological domainCytoplasmic
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862114201_20662.333333333333336325.0Topological domainExtracellular
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862114228_23762.333333333333336325.0Topological domainCytoplasmic
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862114259_27262.333333333333336325.0Topological domainExtracellular
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862114294_30362.333333333333336325.0Topological domainCytoplasmic
TgeneSLC39A1chr15:45408456chr1:153934826ENST000003686211490_10462.333333333333336325.0Topological domainExtracellular
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862303126_17962.333333333333336325.0Topological domainCytoplasmic
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862303201_20662.333333333333336325.0Topological domainExtracellular
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862303228_23762.333333333333336325.0Topological domainCytoplasmic
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862303259_27262.333333333333336325.0Topological domainExtracellular
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862303294_30362.333333333333336325.0Topological domainCytoplasmic
TgeneSLC39A1chr15:45408456chr1:153934826ENST000003686230390_10462.333333333333336325.0Topological domainExtracellular
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000031048325105_12562.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000031048325180_20062.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000031048325207_22762.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000031048325238_25862.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000031048325273_29362.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000031048325304_32462.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST000003104832569_8962.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000035620514105_12562.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000035620514180_20062.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000035620514207_22762.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000035620514238_25862.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000035620514273_29362.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000035620514304_32462.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST000003562051469_8962.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862114105_12562.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862114180_20062.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862114207_22762.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862114238_25862.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862114273_29362.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862114304_32462.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST000003686211469_8962.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862303105_12562.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862303180_20062.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862303207_22762.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862303238_25862.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862303273_29362.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST0000036862303304_32462.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST000003686230369_8962.333333333333336325.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDUOXA2chr15:45408456chr1:153934826ENST00000323030+36205_206113.33333333333333321.0Topological domainCytoplasmic
HgeneDUOXA2chr15:45408456chr1:153934826ENST00000323030+36228_247113.33333333333333321.0Topological domainExtracellular
HgeneDUOXA2chr15:45408456chr1:153934826ENST00000323030+36269_320113.33333333333333321.0Topological domainCytoplasmic
HgeneDUOXA2chr15:45408456chr1:153934826ENST00000323030+3678_183113.33333333333333321.0Topological domainExtracellular
HgeneDUOXA2chr15:45408456chr1:153934826ENST00000323030+36184_204113.33333333333333321.0TransmembraneHelical
HgeneDUOXA2chr15:45408456chr1:153934826ENST00000323030+36207_227113.33333333333333321.0TransmembraneHelical
HgeneDUOXA2chr15:45408456chr1:153934826ENST00000323030+36248_268113.33333333333333321.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST00000310483251_3062.333333333333336325.0Topological domainExtracellular
TgeneSLC39A1chr15:45408456chr1:153934826ENST000003104832552_6862.333333333333336325.0Topological domainCytoplasmic
TgeneSLC39A1chr15:45408456chr1:153934826ENST00000356205141_3062.333333333333336325.0Topological domainExtracellular
TgeneSLC39A1chr15:45408456chr1:153934826ENST000003562051452_6862.333333333333336325.0Topological domainCytoplasmic
TgeneSLC39A1chr15:45408456chr1:153934826ENST00000368621141_3062.333333333333336325.0Topological domainExtracellular
TgeneSLC39A1chr15:45408456chr1:153934826ENST000003686211452_6862.333333333333336325.0Topological domainCytoplasmic
TgeneSLC39A1chr15:45408456chr1:153934826ENST00000368623031_3062.333333333333336325.0Topological domainExtracellular
TgeneSLC39A1chr15:45408456chr1:153934826ENST000003686230352_6862.333333333333336325.0Topological domainCytoplasmic
TgeneSLC39A1chr15:45408456chr1:153934826ENST000003104832531_5162.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST000003562051431_5162.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST000003686211431_5162.333333333333336325.0TransmembraneHelical
TgeneSLC39A1chr15:45408456chr1:153934826ENST000003686230331_5162.333333333333336325.0TransmembraneHelical


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
DUOXA2
SLC39A1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to DUOXA2-SLC39A1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to DUOXA2-SLC39A1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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