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Center for Computational Systems Medicine
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Fusion Gene and Fusion Protein Summary

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Fusion Amino Acid Sequences (multiple BPs and multiple gene isoforms)

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Fusion Protein Breakpoint Sequences - (for the Screening of the FusionNeoAntigens)

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Potential FusionNeoAntigens in HLA I - (netMHCpan v4.1 + deepHLApan v1.1)

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Potential FusionNeoAntigens in HLA II - (netMHCIIpan v4.1)

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Fusion Breakpoint 14 AA Peptide Structure - (RoseTTAFold)

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D - (Glide)

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Vaccine Design for the FusionNeoAntigens (RNA/protein sequences)

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Potential target of CAR-T therapy development

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Information on the samples that have these potential fusion neoantigens

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Fusion Protein Targeting Drugs - (Manual Curation)

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Fusion Protein Related diseases - (Manual Curation)

Fusion Protein:ELF1-EZR

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ELF1-EZR
FusionPDB ID: 26152
FusionGDB2.0 ID: 26152
HgeneTgene
Gene symbol

ELF1

EZR

Gene ID

84337

7430

Gene nameelongation factor 1 homologezrin
SynonymsELF1CVIL|CVL|HEL-S-105|VIL2
Cytomap

19p13.2

6q25.3

Type of geneprotein-codingprotein-coding
Descriptiontranscription elongation factor 1 homologELF1 homolog, elongation factor 1elongation factor 1 homolog (ELF1, S. cerevisiae)ezrincytovillin 2epididymis secretory protein Li 105p81villin 2 (ezrin)
Modification date2020031320200322
UniProtAcc

P32519

Main function of 5'-partner protein: FUNCTION: Transcription factor that activates the LYN and BLK promoters. Appears to be required for the T-cell-receptor-mediated trans activation of HIV-2 gene expression. Binds specifically to two purine-rich motifs in the HIV-2 enhancer. {ECO:0000269|PubMed:8756667}.

P15311

Main function of 5'-partner protein: FUNCTION: Probably involved in connections of major cytoskeletal structures to the plasma membrane. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with PLEKHG6, required for normal macropinocytosis. {ECO:0000269|PubMed:17881735, ECO:0000269|PubMed:18270268, ECO:0000269|PubMed:19111582}.
Ensembl transtripts involved in fusion geneENST idsENST00000239882, ENST00000442101, 
ENST00000498824, 
ENST00000476189, 
ENST00000337147, ENST00000367075, 
ENST00000392177, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score18 X 11 X 6=118825 X 24 X 6=3600
# samples 1727
** MAII scorelog2(17/1188*10)=-2.80492818466306
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(27/3600*10)=-3.73696559416621
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: ELF1 [Title/Abstract] AND EZR [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: ELF1 [Title/Abstract] AND EZR [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ELF1(41556119)-EZR(159210403), # samples:1
Anticipated loss of major functional domain due to fusion event.ELF1-EZR 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.
ELF1-EZR 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.
ELF1-EZR 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.
ELF1-EZR 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
TgeneEZR

GO:0048015

phosphatidylinositol-mediated signaling

25591774

TgeneEZR

GO:0051017

actin filament bundle assembly

10793131



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/chr13:41556119/chr6:159210403)
- 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 buttonRetention analysis results 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, are available here.

check buttonFusion gene breakpoints across ELF1 (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 EZR (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 Amino Acid Sequences


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)
ENST00000442101ELF1chr1341556119-ENST00000337147EZRchr6159210403-32223002282048606
ENST00000442101ELF1chr1341556119-ENST00000367075EZRchr6159210403-32153002282048606
ENST00000442101ELF1chr1341556119-ENST00000392177EZRchr6159210403-19713002281952574
ENST00000239882ELF1chr1341556119-ENST00000337147EZRchr6159210403-33093873152135606
ENST00000239882ELF1chr1341556119-ENST00000367075EZRchr6159210403-33023873152135606
ENST00000239882ELF1chr1341556119-ENST00000392177EZRchr6159210403-20583873152039574

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
ENST00000442101ENST00000337147ELF1chr1341556119-EZRchr6159210403-0.0029799060.99702007
ENST00000442101ENST00000367075ELF1chr1341556119-EZRchr6159210403-0.0028906230.99710935
ENST00000442101ENST00000392177ELF1chr1341556119-EZRchr6159210403-0.0076966670.9923034
ENST00000239882ENST00000337147ELF1chr1341556119-EZRchr6159210403-0.0027711650.9972288
ENST00000239882ENST00000367075ELF1chr1341556119-EZRchr6159210403-0.0026836490.9973163
ENST00000239882ENST00000392177ELF1chr1341556119-EZRchr6159210403-0.007274070.99272597

check button Predicted full-length fusion amino acid sequences. For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among all the predicted ones.

Get the fusion protein sequences from here.

Fusion protein sequence information is available in the fasta format.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

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Fusion Protein Breakpoint Sequences for ELF1-EZR

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
ELF1chr1341556119EZRchr615921040330023VFEFASNVMEDERQINVRVTTMDAEL
ELF1chr1341556119EZRchr615921040338723VFEFASNVMEDERQINVRVTTMDAEL

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Potential FusionNeoAntigen Information of ELF1-EZR in HLA I

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
ELF1-EZR_41556119_159210403.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5)
Fusion geneHchrHbpTgeneTchrTbpHLA IFusionNeoAntigen peptideBinding scoreImmunogenic scoreNeoantigen start (at BP 13)Neoantigen end (at BP 13)
ELF1-EZRchr1341556119chr6159210403387HLA-B45:01MEDERQINV0.99890.7686817
ELF1-EZRchr1341556119chr6159210403387HLA-B45:01DERQINVRV0.99480.90561019
ELF1-EZRchr1341556119chr6159210403387HLA-B50:02DERQINVRV0.98850.59531019
ELF1-EZRchr1341556119chr6159210403387HLA-B41:01MEDERQINV0.97090.9283817
ELF1-EZRchr1341556119chr6159210403387HLA-B48:01RQINVRVTT0.94730.65891221
ELF1-EZRchr1341556119chr6159210403387HLA-B47:01MEDERQINV0.91850.5167817
ELF1-EZRchr1341556119chr6159210403387HLA-B18:01DERQINVRV0.90590.90131019
ELF1-EZRchr1341556119chr6159210403387HLA-B50:01MEDERQINV0.86940.7272817
ELF1-EZRchr1341556119chr6159210403387HLA-B39:13MEDERQINV0.66980.9348817
ELF1-EZRchr1341556119chr6159210403387HLA-B13:02RQINVRVTT0.64980.74131221
ELF1-EZRchr1341556119chr6159210403387HLA-B15:01RQINVRVTTM0.99970.86821222
ELF1-EZRchr1341556119chr6159210403387HLA-B48:01RQINVRVTTM0.98490.6441222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:03RQINVRVTTM0.96240.7791222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:25RQINVRVTTM0.93990.87661222
ELF1-EZRchr1341556119chr6159210403387HLA-B13:02RQINVRVTTM0.83080.77441222
ELF1-EZRchr1341556119chr6159210403387HLA-B13:01RQINVRVTTM0.75940.92881222
ELF1-EZRchr1341556119chr6159210403387HLA-B40:06MEDERQINV0.99980.5159817
ELF1-EZRchr1341556119chr6159210403387HLA-B39:08MEDERQINV0.86710.8872817
ELF1-EZRchr1341556119chr6159210403387HLA-B15:04RQINVRVTT0.72380.87431221
ELF1-EZRchr1341556119chr6159210403387HLA-B39:09MEDERQINV0.69460.6382817
ELF1-EZRchr1341556119chr6159210403387HLA-B51:07DERQINVRV0.64270.76431019
ELF1-EZRchr1341556119chr6159210403387HLA-B39:05MEDERQINV0.56020.879817
ELF1-EZRchr1341556119chr6159210403387HLA-B51:07MEDERQINV0.5570.7879817
ELF1-EZRchr1341556119chr6159210403387HLA-B15:04RQINVRVTTM0.99750.89121222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:07RQINVRVTTM0.9970.7881222
ELF1-EZRchr1341556119chr6159210403387HLA-A02:07VMEDERQINV0.94990.5319717
ELF1-EZRchr1341556119chr6159210403387HLA-B73:01ERQINVRVTT0.91780.90461121
ELF1-EZRchr1341556119chr6159210403387HLA-B15:05RQINVRVTTM0.74030.87141222
ELF1-EZRchr1341556119chr6159210403387HLA-C18:01MEDERQINV0.99960.7627817
ELF1-EZRchr1341556119chr6159210403387HLA-B40:04MEDERQINV0.99860.678817
ELF1-EZRchr1341556119chr6159210403387HLA-B41:03MEDERQINV0.96580.679817
ELF1-EZRchr1341556119chr6159210403387HLA-B18:06DERQINVRV0.90680.93851019
ELF1-EZRchr1341556119chr6159210403387HLA-B18:05DERQINVRV0.90590.90131019
ELF1-EZRchr1341556119chr6159210403387HLA-B18:08DERQINVRV0.90320.97031019
ELF1-EZRchr1341556119chr6159210403387HLA-B50:04MEDERQINV0.86940.7272817
ELF1-EZRchr1341556119chr6159210403387HLA-B50:05MEDERQINV0.86940.7272817
ELF1-EZRchr1341556119chr6159210403387HLA-B18:03DERQINVRV0.85280.89731019
ELF1-EZRchr1341556119chr6159210403387HLA-B39:11MEDERQINV0.85220.8559817
ELF1-EZRchr1341556119chr6159210403387HLA-B39:31MEDERQINV0.75630.892817
ELF1-EZRchr1341556119chr6159210403387HLA-B39:02MEDERQINV0.66110.9343817
ELF1-EZRchr1341556119chr6159210403387HLA-B18:11DERQINVRV0.47580.88091019
ELF1-EZRchr1341556119chr6159210403387HLA-B15:135RQINVRVTTM0.99970.85241222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:34RQINVRVTTM0.99970.86821222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:125RQINVRVTTM0.99970.86821222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:33RQINVRVTTM0.99970.86821222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:27RQINVRVTTM0.99970.87221222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:50RQINVRVTTM0.99950.93341222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:24RQINVRVTTM0.99950.81471222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:53RQINVRVTTM0.99910.86051222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:68RQINVRVTTM0.99870.73461222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:54RQINVRVTTM0.99830.8421222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:12RQINVRVTTM0.99580.86051222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:35RQINVRVTTM0.99490.87951222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:73RQINVRVTTM0.990.9551222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:30RQINVRVTTM0.98090.94571222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:39RQINVRVTTM0.94990.81381222
ELF1-EZRchr1341556119chr6159210403387HLA-B48:02RQINVRVTTM0.83380.91541222
ELF1-EZRchr1341556119chr6159210403387HLA-B15:20RQINVRVTTM0.74020.91631222
ELF1-EZRchr1341556119chr6159210403387HLA-B40:21RQINVRVTTM0.73590.57611222
ELF1-EZRchr1341556119chr6159210403387HLA-A69:01NVMEDERQINV0.99240.6828617

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Potential FusionNeoAntigen Information of ELF1-EZR in HLA II

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
ELF1-EZR_41556119_159210403.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCIIpan v4.1 (%rank<0.5).
Fusion geneHchrHbpTgeneTchrTbpHLA IIFusionNeoAntigen peptideNeoantigen start (at BP 13)Neoantigen end (at BP 13)
ELF1-EZRchr1341556119chr6159210403387DRB1-0806DERQINVRVTTMDAE1025
ELF1-EZRchr1341556119chr6159210403387DRB1-0810DERQINVRVTTMDAE1025
ELF1-EZRchr1341556119chr6159210403387DRB1-0812DERQINVRVTTMDAE1025
ELF1-EZRchr1341556119chr6159210403387DRB1-0822DERQINVRVTTMDAE1025

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Fusion breakpoint peptide structures of ELF1-EZR

check button3D structures of the fusion breakpoint peptide of 14AA sequence that have potential fusion neoantigens
* The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA.
File nameBPseqHgeneTgeneHchrHbpTchrTbpAAlen
6443NVMEDERQINVRVTELF1EZRchr1341556119chr6159210403387

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of ELF1-EZR

check buttonVirtual screening between 25 HLAs (from PDB) and FusionNeoAntigens
* We used Glide to predict the interaction between HLAs and neoantigens.
HLA allelePDB IDFile nameBPseqDocking scoreGlide score
HLA-B14:023BVN6443NVMEDERQINVRVT-5.16857-5.28197
HLA-B14:023BVN6443NVMEDERQINVRVT-4.21097-5.24627
HLA-B52:013W396443NVMEDERQINVRVT-4.32839-4.44179
HLA-B52:013W396443NVMEDERQINVRVT-4.10962-5.14492
HLA-A24:025HGA6443NVMEDERQINVRVT-6.03661-6.15001
HLA-A24:025HGA6443NVMEDERQINVRVT-5.99594-7.03124
HLA-B44:053DX86443NVMEDERQINVRVT-6.27779-6.39119
HLA-B44:053DX86443NVMEDERQINVRVT-4.76488-5.80018

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Vaccine Design for the FusionNeoAntigens of ELF1-EZR

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-Is.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptide sequenceFusionNeoAntigen RNA sequence
ELF1-EZRchr1341556119chr61592104031019DERQINVRVGAACGACAGATCAATGTCCGAGTTACC
ELF1-EZRchr1341556119chr61592104031121ERQINVRVTTCGACAGATCAATGTCCGAGTTACCACCATG
ELF1-EZRchr1341556119chr61592104031221RQINVRVTTCAGATCAATGTCCGAGTTACCACCATG
ELF1-EZRchr1341556119chr61592104031222RQINVRVTTMCAGATCAATGTCCGAGTTACCACCATGGAT
ELF1-EZRchr1341556119chr6159210403617NVMEDERQINVGTCATGGAGGATGAACGACAGATCAATGTCCGA
ELF1-EZRchr1341556119chr6159210403717VMEDERQINVATGGAGGATGAACGACAGATCAATGTCCGA
ELF1-EZRchr1341556119chr6159210403817MEDERQINVGAGGATGAACGACAGATCAATGTCCGA

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
ELF1-EZRchr1341556119chr61592104031025DERQINVRVTTMDAEGAACGACAGATCAATGTCCGAGTTACCACCATGGATGCAGAGCTG

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Information of the samples that have these potential fusion neoantigens of ELF1-EZR

check button These samples were reported as having these fusion breakpoints. For individual breakpoints, we checked the open reading frames considering multiple gene isoforms and chose the in-frame fusion genes only. Then, we made fusion protein sequences and predicted the fusion neoantigens. These fusion-positive samples may have these potential fusion neoantigens.
Cancer typeFusion geneHchrHbpHenstTchrTbpTenstSample
STADELF1-EZRchr1341556119ENST00000239882chr6159210403ENST00000337147TCGA-CD-8531-01A

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Potential target of CAR-T therapy development for ELF1-EZR

check button Predicted 3D structure. We used RoseTTAFold.

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, to provide the retention of the transmembrane domain, we only show the protein feature retention information of those transmembrane features


* Minus value of BPloci means that the break point is located before the CDS.
- In-frame and retained 'Transmembrane'.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

check button Subcellular localization prediction of the transmembrane domain retained fusion proteins
* We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image.
HgeneHchrHbpHenstTgeneTchrTbpTenstDeepLoc result

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Related Drugs to ELF1-EZR

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 ELF1-EZR

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
TgeneEZRC0033578Prostatic Neoplasms3CTD_human
TgeneEZRC0376358Malignant neoplasm of prostate3CTD_human
TgeneEZRC0007097Carcinoma1CTD_human
TgeneEZRC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneEZRC0024667Animal Mammary Neoplasms1CTD_human
TgeneEZRC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneEZRC0027627Neoplasm Metastasis1CTD_human
TgeneEZRC0029408Degenerative polyarthritis1CTD_human
TgeneEZRC0086743Osteoarthrosis Deformans1CTD_human
TgeneEZRC0205696Anaplastic carcinoma1CTD_human
TgeneEZRC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneEZRC0205698Undifferentiated carcinoma1CTD_human
TgeneEZRC0205699Carcinomatosis1CTD_human
TgeneEZRC1257925Mammary Carcinoma, Animal1CTD_human