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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:EMC10-MT2A (FusionGDB2 ID:HG284361TG4502)

Fusion Gene Summary for EMC10-MT2A

check button Fusion gene summary
Fusion gene informationFusion gene name: EMC10-MT2A
Fusion gene ID: hg284361tg4502
HgeneTgene
Gene symbol

EMC10

MT2A

Gene ID

284361

4502

Gene nameER membrane protein complex subunit 10metallothionein 2A
SynonymsC19orf63|HSM1|HSS1MT-2|MT-II|MT2
Cytomap('EMC10')('MT2A')

19q13.33

16q13

Type of geneprotein-codingprotein-coding
DescriptionER membrane protein complex subunit 10UPF0510 protein INM02hematopoietic signal peptide-containing membrane domain-containing 1hematopoietic signal peptide-containing secreted 1metallothionein-2metallothionein-II
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000334976, ENST00000376918, 
ENST00000598585, 
Fusion gene scores* DoF score6 X 5 X 4=1209 X 10 X 7=630
# samples 69
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/630*10)=-2.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EMC10 [Title/Abstract] AND MT2A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEMC10(50985752)-MT2A(56642570), # samples:1
Anticipated loss of major functional domain due to fusion event.EMC10-MT2A 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.
EMC10-MT2A 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
HgeneEMC10

GO:0001938

positive regulation of endothelial cell proliferation

28931551

TgeneMT2A

GO:0035690

cellular response to drug

19536566


check buttonFusion gene breakpoints across EMC10 (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 MT2A (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-8365-01AEMC10chr19

50985752

+MT2Achr16

56642570

+


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Fusion Gene ORF analysis for EMC10-MT2A

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-3CDSENST00000334976ENST00000245185EMC10chr19

50985752

+MT2Achr16

56642570

+
3UTR-3CDSENST00000376918ENST00000245185EMC10chr19

50985752

+MT2Achr16

56642570

+
3UTR-3UTRENST00000334976ENST00000561491EMC10chr19

50985752

+MT2Achr16

56642570

+
3UTR-3UTRENST00000334976ENST00000563985EMC10chr19

50985752

+MT2Achr16

56642570

+
3UTR-3UTRENST00000376918ENST00000561491EMC10chr19

50985752

+MT2Achr16

56642570

+
3UTR-3UTRENST00000376918ENST00000563985EMC10chr19

50985752

+MT2Achr16

56642570

+
5CDS-3UTRENST00000598585ENST00000561491EMC10chr19

50985752

+MT2Achr16

56642570

+
5CDS-3UTRENST00000598585ENST00000563985EMC10chr19

50985752

+MT2Achr16

56642570

+
In-frameENST00000598585ENST00000245185EMC10chr19

50985752

+MT2Achr16

56642570

+

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)
ENST00000598585EMC10chr1950985752+ENST00000245185MT2Achr1656642570+1838151224845273

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
ENST00000598585ENST00000245185EMC10chr1950985752+MT2Achr1656642570+0.0148793880.9851206

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Fusion Genomic Features for EMC10-MT2A


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

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Fusion Protein Features for EMC10-MT2A


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/chr19:50985752/chr16:56642570)
- 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
TgeneMT2Achr19:50985752chr16:56642570ENST00000245185031_29062.0RegionNote=Beta
TgeneMT2Achr19:50985752chr16:56642570ENST000002451850330_61062.0RegionNote=Alpha

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEMC10chr19:50985752chr16:56642570ENST00000334976+17243_2620263.0Topological domainCytoplasmic
HgeneEMC10chr19:50985752chr16:56642570ENST00000334976+1726_2210263.0Topological domainLumenal
HgeneEMC10chr19:50985752chr16:56642570ENST00000376918+18243_2620602.6666666666666Topological domainCytoplasmic
HgeneEMC10chr19:50985752chr16:56642570ENST00000376918+1826_2210602.6666666666666Topological domainLumenal
HgeneEMC10chr19:50985752chr16:56642570ENST00000334976+17222_2420263.0TransmembraneHelical
HgeneEMC10chr19:50985752chr16:56642570ENST00000376918+18222_2420602.6666666666666TransmembraneHelical


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Fusion Gene Sequence for EMC10-MT2A


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.
>26360_26360_1_EMC10-MT2A_EMC10_chr19_50985752_ENST00000598585_MT2A_chr16_56642570_ENST00000245185_length(transcript)=1838nt_BP=1512nt
CTTCGCTGGTGGGAAGAAGCCGAGATGGCGGCAGCCAGCGCTGGGGCAACCCGGCTGCTCCTGCTCTTGCTGATGGCGGTAGCAGCGCCC
AGTCGAGCCCGGGGCAGCGGCTGCCGGGCCGGGACTGGTGCGCGAGGGGCTGGGGCGGAAGGTCGAGAGGGCGAGGCCTGTGGCACGGTG
GGGCTGCTGCTGGAGCACTCATTTGAGATCGATGACAGTGCCAACTTCCGGAAGCGGGGCTCACTGCTCTGGAACCAGCAGGATGGTACC
TTGTCCCTGTCACAGCGGCAGCTCAGCGAGGAGGAGCGGGGCCGACTCCGGGATGTGGCAGCCCTGAATGGCCTGTACCGGGTCCGGATC
CCAAGGCGACCCGGGGCCCTGGATGGCCTGGAAGCTGGTGGCTATGTCTCCTCCTTTGTCCCTGCGTGCTCCCTGGTGGAGTCGCACCTG
TCGGACCAGCTGACCCTGCACGTGGATGTGGCCGGCAACGTGGTGGGCGTGTCGGTGGTGACGCACCCCGGGGGCTGCCGGGGCCATGAG
GTGGAGGACGTGGACCTGGAGCTGTTCAACACCTCGGTGCAGCTGCAGCCGCCCACCACAGCCCCAGGCCCTGAGACGGCGGCCTTCATT
GAGCGCCTGGAGATGGAACAGGCCCAGAAGGCCAAGAACCCCCAGGAGCAGAAGTCCTTCTTCGCCAAATACTGGATGTACATCATTCCC
GTCGTCCTGTTCCTCATGATGTCAGGAGCGCCAGACACCGGGGGCCAGGGTGGGGGTGGGGGTGGGGGTGGTGGTGGGGGTAGTGGCCGT
GCAGCCCCAGGGGCTTCCCCCCTGCCCATGGAGTAGAGCCCGAGATCCTGGCCACTATGCCAGTTCTGACCTCGCATCCCCCTACCCCGA
GCCCATGCAGTCTGGGAACATGCCGCCTTCTCTCCAGCCTCTGTGCCTTTGTTCCAGGTGGTCTCACCCTCCTGTCCCTGGCTGGGCTAG
GTGGTCCTGTCCAGGCTCCTGCAGCGCCCCCCTCACTTTGACACTGGACTAGGATGCAGCCTCCCTTCTGTGTCCCCTTGAGGGTACCCT
GGGTCCCCTCATCAGGGGCAGAGGCATGAAAGAGTCGGGGCTGGATGGCCGGGGGCTTCTGGGCCCGACGCCTAGTGCAGCCCCTGGGGT
CGTGGTTTGACATTTGTCTGCCTGGTGCAAACAAGGAATCCTTGCCTTTAAGGTGACAGGCCCTCCACAGGCTTCCAGACTTGAAGGAAA
AGGTTTAAGAAAGAAAACAAAACCAACAGTTAGTGGAGTCAAAGCCCAGACACTGTAAATAGAACCCCCTCCACCACCCCCCGCCGCCCA
GCATCCTACCTGGACTGCGGTGCTACGAGGGCCTGCGGGCCTTTGCTGTGTGCCACCCTCCCTGTAAGTCTATTTAAAAACATCGACGAT
ACATTGAAATGTGTGAACGTTTTGAAAAGCTACAGCTTCCAGCAGCCAAAAGCAACTGTTGTTTTGGCAAGAGATCCCAACTGCTCCTGC
GCCGCCGGTGACTCCTGCACCTGCGCCGGCTCCTGCAAATGCAAAGAGTGCAAATGCACCTCCTGCAAGAAAAGCTGCTGCTCCTGCTGC
CCTGTGGGCTGTGCCAAGTGTGCCCAGGGCTGCATCTGCAAAGGGGCGTCGGACAAGTGCAGCTGCTGCGCCTGATGCTGGGACAGCCCC
GCTCCCAGATGTAAAGAACGCGACTTCCACAAACCTGGATTTTTTATGTACAACCCTGACCGTGACCGTTTGCTATATTCCTTTTTCTAT

>26360_26360_1_EMC10-MT2A_EMC10_chr19_50985752_ENST00000598585_MT2A_chr16_56642570_ENST00000245185_length(amino acids)=273AA_BP=
MAAASAGATRLLLLLLMAVAAPSRARGSGCRAGTGARGAGAEGREGEACGTVGLLLEHSFEIDDSANFRKRGSLLWNQQDGTLSLSQRQL
SEEERGRLRDVAALNGLYRVRIPRRPGALDGLEAGGYVSSFVPACSLVESHLSDQLTLHVDVAGNVVGVSVVTHPGGCRGHEVEDVDLEL
FNTSVQLQPPTTAPGPETAAFIERLEMEQAQKAKNPQEQKSFFAKYWMYIIPVVLFLMMSGAPDTGGQGGGGGGGGGGGSGRAAPGASPL

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

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Fusion Gene PPI Analysis for EMC10-MT2A


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 EMC10-MT2A


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 EMC10-MT2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0005684Malignant neoplasm of urinary bladder2CTD_human
TgeneC0005695Bladder Neoplasm2CTD_human
TgeneC0033578Prostatic Neoplasms2CTD_human
TgeneC0376358Malignant neoplasm of prostate2CTD_human
TgeneC2239176Liver carcinoma2CTD_human
TgeneC0011849Diabetes Mellitus1CTD_human
TgeneC0018799Heart Diseases1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0282612Prostatic Intraepithelial Neoplasias1CTD_human
TgeneC0349218Recurrent depressive disorder1PSYGENET
TgeneC0403447Chronic Kidney Insufficiency1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1561643Chronic Kidney Diseases1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human