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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:TYR-MXI1 (FusionGDB2 ID:95682)

Fusion Gene Summary for TYR-MXI1

check button Fusion gene summary
Fusion gene informationFusion gene name: TYR-MXI1
Fusion gene ID: 95682
HgeneTgene
Gene symbol

TYR

MXI1

Gene ID

7299

4601

Gene nametyrosinaseMAX interactor 1, dimerization protein
SynonymsATN|CMM8|OCA1|OCA1A|OCAIA|SHEP3MAD2|MXD2|MXI|bHLHc11
Cytomap

11q14.3

10q25.2

Type of geneprotein-codingprotein-coding
DescriptiontyrosinaseLB24-ABSK29-ABmonophenol monooxygenaseoculocutaneous albinism IAtumor rejection antigen ABmax-interacting protein 1MAX dimerization protein 2Max-related transcription factorclass C basic helix-loop-helix protein 11
Modification date2020032220200313
UniProtAcc.

P50539

Ensembl transtripts involved in fusion geneENST00000526139, ENST00000263321, 
ENST00000332674, ENST00000485566, 
ENST00000239007, ENST00000361248, 
ENST00000369612, ENST00000393134, 
Fusion gene scores* DoF score5 X 1 X 2=1017 X 10 X 9=1530
# samples 519
** MAII scorelog2(5/10*10)=2.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(19/1530*10)=-3.00946032924907
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TYR [Title/Abstract] AND MXI1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTYR(88924586)-MXI1(111987947), # 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
HgeneTYR

GO:0042438

melanin biosynthetic process

8126111

TgeneMXI1

GO:0000122

negative regulation of transcription by RNA polymerase II

11875718


check buttonFusion gene breakpoints across TYR (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 MXI1 (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
ChimerDB4SKCMTCGA-ER-A19F-06ATYRchr11

88924586

+MXI1chr10

111987947

+


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Fusion Gene ORF analysis for TYR-MXI1

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
3UTR-3CDSENST00000526139ENST00000332674TYRchr11

88924586

+MXI1chr10

111987947

+
3UTR-3UTRENST00000526139ENST00000485566TYRchr11

88924586

+MXI1chr10

111987947

+
3UTR-5UTRENST00000526139ENST00000239007TYRchr11

88924586

+MXI1chr10

111987947

+
3UTR-5UTRENST00000526139ENST00000361248TYRchr11

88924586

+MXI1chr10

111987947

+
3UTR-5UTRENST00000526139ENST00000369612TYRchr11

88924586

+MXI1chr10

111987947

+
3UTR-5UTRENST00000526139ENST00000393134TYRchr11

88924586

+MXI1chr10

111987947

+
5CDS-3UTRENST00000263321ENST00000485566TYRchr11

88924586

+MXI1chr10

111987947

+
5CDS-5UTRENST00000263321ENST00000239007TYRchr11

88924586

+MXI1chr10

111987947

+
5CDS-5UTRENST00000263321ENST00000361248TYRchr11

88924586

+MXI1chr10

111987947

+
5CDS-5UTRENST00000263321ENST00000369612TYRchr11

88924586

+MXI1chr10

111987947

+
5CDS-5UTRENST00000263321ENST00000393134TYRchr11

88924586

+MXI1chr10

111987947

+
In-frameENST00000263321ENST00000332674TYRchr11

88924586

+MXI1chr10

111987947

+

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)
ENST00000263321TYRchr1188924586+ENST00000332674MXI1chr10111987947+453015385022151549

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
ENST00000263321ENST00000332674TYRchr1188924586+MXI1chr10111987947+0.0018153090.9981846

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Fusion Genomic Features for TYR-MXI1


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)
TYRchr1188924586+MXI1chr10111987946+0.349905250.65009475
TYRchr1188924586+MXI1chr10111987946+0.349905250.65009475

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 TYR-MXI1


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/chr11:88924586/chr10:111987947)
- 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
.MXI1

P50539

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 repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MXI1 thus antagonizes MYC transcriptional activity by competing for MAX.

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
TgeneMXI1chr11:88924586chr10:111987947ENST000002390070667_11924229.0DomainbHLH
TgeneMXI1chr11:88924586chr10:111987947ENST000003612480567_1190183.0DomainbHLH
TgeneMXI1chr11:88924586chr10:111987947ENST000003696120667_1190193.0DomainbHLH

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTYRchr11:88924586chr10:111987947ENST00000263321+2519_476345530.0Topological domainLumenal%2C melanosome
HgeneTYRchr11:88924586chr10:111987947ENST00000263321+25498_529345530.0Topological domainCytoplasmic
HgeneTYRchr11:88924586chr10:111987947ENST00000263321+25477_497345530.0TransmembraneHelical
TgeneMXI1chr11:88924586chr10:111987947ENST000003326740667_11991296.0DomainbHLH


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Fusion Gene Sequence for TYR-MXI1


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.
>95682_95682_1_TYR-MXI1_TYR_chr11_88924586_ENST00000263321_MXI1_chr10_111987947_ENST00000332674_length(transcript)=4530nt_BP=1538nt
TATTGAGTTCTTCAAACATTGTAGCCTCTTTATGGTCTCTGAGAAATAACTACCTTAAACCCATAATCTTTAATACTTCCTAAACTTTCT
TAATAAGAGAAGCTCTATTCCTGACACTACCTCTCATTTGCAAGGTCAAATCATCATTAGTTTTGTAGTCTATTAACTGGGTTTGCTTAG
GTCAGGCATTATTATTACTAACCTTATTGTTAATATTCTAACCATAAGAATTAAACTATTAATGGTGAATAGAGTTTTTCACTTTAACAT
AGGCCTATCCCACTGGTGGGATACGAGCCAATTCGAAAGAAAAGTCAGTCATGTGCTTTTCAGAGGATGAAAGCTTAAGATAAAGACTAA
AAGTGTTTGATGCTGGAGGTGGGAGTGGTATTATATAGGTCTCAGCCAAGACATGTGATAATCACTGTAGTAGTAGCTGGAAAGAGAAAT
CTGTGACTCCAATTAGCCAGTTCCTGCAGACCTTGTGAGGACTAGAGGAAGAATGCTCCTGGCTGTTTTGTACTGCCTGCTGTGGAGTTT
CCAGACCTCCGCTGGCCATTTCCCTAGAGCCTGTGTCTCCTCTAAGAACCTGATGGAGAAGGAATGCTGTCCACCGTGGAGCGGGGACAG
GAGTCCCTGTGGCCAGCTTTCAGGCAGAGGTTCCTGTCAGAATATCCTTCTGTCCAATGCACCACTTGGGCCTCAATTTCCCTTCACAGG
GGTGGATGACCGGGAGTCGTGGCCTTCCGTCTTTTATAATAGGACCTGCCAGTGCTCTGGCAACTTCATGGGATTCAACTGTGGAAACTG
CAAGTTTGGCTTTTGGGGACCAAACTGCACAGAGAGACGACTCTTGGTGAGAAGAAACATCTTCGATTTGAGTGCCCCAGAGAAGGACAA
ATTTTTTGCCTACCTCACTTTAGCAAAGCATACCATCAGCTCAGACTATGTCATCCCCATAGGGACCTATGGCCAAATGAAAAATGGATC
AACACCCATGTTTAACGACATCAATATTTATGACCTCTTTGTCTGGATGCATTATTATGTGTCAATGGATGCACTGCTTGGGGGATCTGA
AATCTGGAGAGACATTGATTTTGCCCATGAAGCACCAGCTTTTCTGCCTTGGCATAGACTCTTCTTGTTGCGGTGGGAACAAGAAATCCA
GAAGCTGACAGGAGATGAAAACTTCACTATTCCATATTGGGACTGGCGGGATGCAGAAAAGTGTGACATTTGCACAGATGAGTACATGGG
AGGTCAGCACCCCACAAATCCTAACTTACTCAGCCCAGCATCATTCTTCTCCTCTTGGCAGATTGTCTGTAGCCGATTGGAGGAGTACAA
CAGCCATCAGTCTTTATGCAATGGAACGCCCGAGGGACCTTTACGGCGTAATCCTGGAAACCATGACAAATCCAGAACCCCAAGGCTCCC
CTCTTCAGCTGATGTAGAATTTTGCCTGAGTTTGACCCAATATGAATCTGGTTCCATGGATAAAGCTGCCAATTTCAGCTTTAGAAATAC
ACTGGAAGAGTGTGAACATGGCTACGCCTCTTCATTCCCGTCCATGCCGAGCCCCCGACTGCAGCATTCAAAGCCCCCACGGAGGTTGAG
CCGGGCACAGAAACACAGCAGCGGGAGCAGCAACACCAGCACTGCCAACAGATCTACACACAATGAGCTGGAAAAGAATCGACGAGCTCA
TCTGCGCCTTTGTTTAGAACGCTTAAAAGTTCTGATTCCACTAGGACCAGACTGCACCCGGCACACAACACTTGGTTTGCTCAACAAAGC
CAAAGCACACATCAAGAAACTTGAAGAAGCTGAAAGAAAAAGCCAGCACCAGCTCGAGAATTTGGAACGAGAACAGAGATTTTTAAAGTG
GCGACTGGAACAGCTGCAGGGTCCTCAGGAGATGGAACGAATACGAATGGACAGCATTGGATCAACTATTTCTTCAGATCGTTCTGATTC
AGAGCGAGAGGAGATTGAAGTGGATGTTGAAAGCACAGAGTTCTCCCATGGAGAAGTGGACAATATAAGTACCACCAGCATCAGTGACAT
TGATGACCACAGCAGCCTGCCGAGTATTGGGAGTGACGAGGGTTACTCCAGTGCCAGTGTCAAACTTTCATTCACTTCATAGAACCCAGC
ATGACATAACAGTGCAGGGCAAAATATTCACTGGGCCAATTCAATACAAACAATCTCTTAAATTGGGTTCATGATGCAGTCTCCTCTTTA
AAACAAAACAAAACAAAACAAAACTATACTTGAACAAAAGGGTCAGAGGACCTGTATTTAAGCAAATACTTAGCAAAAAGTGGGGCAGAG
CCTCCCAAGGAGAACAAATATTCAGAATATTCATATTGGAAAAATCACAATTTTTAATGGCAGCAGAAAACTTGTGTGAAATTTTCTTGA
TTTGAGTTGATTGAGAAGAGGACATTGGAGATGCCATCCTCTTTCTCTTTTCTAGTTTGCTCATACTACATTGAGTAGACACATTTAAGG
ATGGGGTTATGAACCCTTCCTGAGCTTTATGGTCCTAAAAGCAAAATAAAAACTATTCGAATGAAAAGACAAGAAAATCAGGTATTAATC
TTGGATAGCTAATAATGAGCTATTAAAACTCAGCCTGGGACAGTTTATCATGAAGCCTGTGGATGATCAATCCTTTATTATTATTTTTTT
TTTTTGAAAAAAGCTCATTTCATGCTCTGCAAAAGGAGAGACTCCCATGAAGCCTTTTGAAAGGGATCATCATGCAGCTCAACTTTCTGT
TGGATTCCATGCTAAGCAAGCTAACCTTATCCTGCATTGTTAGCACTAGGCACCCAGCTGCCACCTCTCCATCCTGCTGCCCTTAGGCCA
CATGGGAGCAGTCCATGCATGACAGCCTCTATCCTACAAGGCCTATGAGTATGGATTGGGGGGGCCAAAAGGAAAAAGCTCCATGTGCCT
CTTTGTCTGCGTGGGTCAGAAGAGTTGTGCACGCAGATTAGCAGGCCAAGGTCTGAGCCACAGCAGCATTTTTATTTCAGATTTTGATAA
CTGTTTATATGTGTTGAAAACCAAAATGACATCTTTTTAAAGCTTATCCATAAAAAAAAATAGATGTCTTTTATAGTGGAAAAACACATG
GGGAAAAAAATCATCTATTTTGATGCAGCATTTGATAATGATAAAACACCTCACACCTCACTCTTTATAGTGCACAAAATGAATGAGGTC
TGGGCTAGGTAGAAAAAGGGTCAATGCTATTTTTGTTTTTAGAATCATTACCTTTTACCAGCTTTTAACCATCTGATATCTATAGTAGAC
ACACTATCATAGTTAACATAGTAAGTTCAGCACTTGTCTCATTTTAATGTAAAGATTTGCTTCCATTTTCCTACAGGCAGTCTCTCTCTT
CCTCACAGTCCCACTGTGCAGGTGCTATTGTTACTCTTACGAATATTTTCAGTAATGTTATTTTCTTCTAAGTGAAATTTCTAGCCTGCA
CTTTGATGTCATGTGTTCCCTTTGTCTTTCAAACTCCAAGGTTCCCTTGTGGCCCTCTCCCTTACCCTGGGAAGGCCTCTTGGAGACCTT
ACCCCTGGCTGTTTGGACTTTGTATACTTTAAATAATTTAACTACCCTTAATTACTTAAAAAAAAAAAAAAGCTTTATGATTTTCATAAC
TTATTGCTGATTTTAATGGATTGTTAATTTCAGTCCTGTAGTTTTATTTTATGTTTAGATAGGGCTGGGCAAGGAAAAAGAAAATAAAGA
CAACCATATTTAGCAGTGCAGTTGAGTTGTGTGTTAATGTTAGACTATCCCTTTGTGAGTGACACTTTAACAGCATTCACTGCTTCTATA
TATAGTGTACCATCTTGGTCATACATTACGCCTCAACATATACTTGTGCTCTTCCTTTGCCTCCAGAAGAAGTTTTTCCTTGATTGTGCT
ATGTTTCAGTGGAAGAAATTCTTTGAAGTAGATGTGAGTGAAAAACTGCATGCCTTTAGAAGCCCAGTATCAGAACTTGCTACGTTTCAG
GTGCTAGGGACTTAATGAAAAACAGGACAAAACAATTCCTTTTTGTGGCCCAGGTAAATTATTTCTGGTTTCACTTATAATTACTAATGG
CTGAGTCAAGATGTTGTCTCTGTGTTTGCTTACTCTTGATCAAGTGTGAGACAGTTTGAAGACTGTGCTACCATACAAAGTGAATGAAGC
CAGTGACTAAGCTTCTGTTTGTTTTGTTATTCTCATGGCCTTCGCTTGCATTATTTGGGCCTTCATTCAGATGAACTTGAGGTGCCATTT
TGTTGCATATGTACAGGATTATGGGCTGGAAAGCATTTGTTATAAACCTATAGTGCACATTTTAACTGCCCCCTAAATTACCCTTCCCTG
GGTTTGTTTTCCTTGGGGTGGTGTAGATTGTATGAGTAAGAAGTATTAATTTTTTAAAAGACAAATCAACTTTGAAGACACAAAAGTTAA

>95682_95682_1_TYR-MXI1_TYR_chr11_88924586_ENST00000263321_MXI1_chr10_111987947_ENST00000332674_length(amino acids)=549AA_BP=345
MLLAVLYCLLWSFQTSAGHFPRACVSSKNLMEKECCPPWSGDRSPCGQLSGRGSCQNILLSNAPLGPQFPFTGVDDRESWPSVFYNRTCQ
CSGNFMGFNCGNCKFGFWGPNCTERRLLVRRNIFDLSAPEKDKFFAYLTLAKHTISSDYVIPIGTYGQMKNGSTPMFNDINIYDLFVWMH
YYVSMDALLGGSEIWRDIDFAHEAPAFLPWHRLFLLRWEQEIQKLTGDENFTIPYWDWRDAEKCDICTDEYMGGQHPTNPNLLSPASFFS
SWQIVCSRLEEYNSHQSLCNGTPEGPLRRNPGNHDKSRTPRLPSSADVEFCLSLTQYESGSMDKAANFSFRNTLEECEHGYASSFPSMPS
PRLQHSKPPRRLSRAQKHSSGSSNTSTANRSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKKLEEAERKSQHQ
LENLEREQRFLKWRLEQLQGPQEMERIRMDSIGSTISSDRSDSEREEIEVDVESTEFSHGEVDNISTTSISDIDDHSSLPSIGSDEGYSS

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

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Fusion Gene PPI Analysis for TYR-MXI1


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 TYR-MXI1


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 TYR-MXI1


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