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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:ETV6-MIA2 (FusionGDB2 ID:27731)

Fusion Gene Summary for ETV6-MIA2

check button Fusion gene summary
Fusion gene informationFusion gene name: ETV6-MIA2
Fusion gene ID: 27731
HgeneTgene
Gene symbol

ETV6

MIA2

Gene ID

2120

387885

Gene nameETS variant transcription factor 6cilia and flagella associated protein 73
SynonymsTEL|TEL/ABL|THC5CCDC42B|MIA2
Cytomap

12p13.2

12q24.13

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor ETV6ETS translocation variant 6ETS variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene)cilia- and flagella-associated protein 73coiled-coil domain containing 42Bcoiled-coil domain-containing protein 42B
Modification date2020031320200313
UniProtAcc

P41212

Q96PC5

Ensembl transtripts involved in fusion geneENST00000544715, ENST00000396373, 
ENST00000280082, ENST00000556784, 
Fusion gene scores* DoF score59 X 37 X 25=5457513 X 9 X 4=468
# samples 5812
** MAII scorelog2(58/54575*10)=-6.55604351475058
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/468*10)=-1.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ETV6 [Title/Abstract] AND MIA2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointETV6(11803094)-MIA2(39716115), # 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
HgeneETV6

GO:0000122

negative regulation of transcription by RNA polymerase II

10514502


check buttonFusion gene breakpoints across ETV6 (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 MIA2 (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-B6-A0I9-01AETV6chr12

11803094

+MIA2chr14

39716115

+


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Fusion Gene ORF analysis for ETV6-MIA2

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-3CDSENST00000544715ENST00000280082ETV6chr12

11803094

+MIA2chr14

39716115

+
3UTR-3CDSENST00000544715ENST00000556784ETV6chr12

11803094

+MIA2chr14

39716115

+
In-frameENST00000396373ENST00000280082ETV6chr12

11803094

+MIA2chr14

39716115

+
In-frameENST00000396373ENST00000556784ETV6chr12

11803094

+MIA2chr14

39716115

+

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)
ENST00000396373ETV6chr1211803094+ENST00000280082MIA2chr1439716115+23423072741935553
ENST00000396373ETV6chr1211803094+ENST00000556784MIA2chr1439716115+16003072741599442

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
ENST00000396373ENST00000280082ETV6chr1211803094+MIA2chr1439716115+0.0004978160.9995022
ENST00000396373ENST00000556784ETV6chr1211803094+MIA2chr1439716115+0.0007995450.9992005

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Fusion Genomic Features for ETV6-MIA2


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)
ETV6chr1211803094+MIA2chr1439716114+5.85E-081
ETV6chr1211803094+MIA2chr1439716114+5.85E-081

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 ETV6-MIA2


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/chr12:11803094/chr14:39716115)
- 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
ETV6

P41212

MIA2

Q96PC5

FUNCTION: Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation. {ECO:0000269|PubMed:25581430}.FUNCTION: Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum (PubMed:27138255, PubMed:21525241, PubMed:25202031, PubMed:27170179). Plays a role in the secretion of lipoproteins, pre-chylomicrons and pre-VLDLs, by participating in their export from the endoplasmic reticulum (PubMed:27138255). Thereby, may play a role in cholesterol and triglyceride homeostasis (By similarity). Required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers and recruiting PREB/SEC12 at the endoplasmic reticulum exit sites (PubMed:21525241, PubMed:25202031, PubMed:27170179). {ECO:0000250|UniProtKB:Q91ZV0, ECO:0000269|PubMed:21525241, ECO:0000269|PubMed:25202031, ECO:0000269|PubMed:27138255, ECO:0000269|PubMed:27170179}.

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
TgeneMIA2chr12:11803094chr14:39716115ENST0000028008226725_850112655.0Coiled coilOntology_term=ECO:0000255
TgeneMIA2chr12:11803094chr14:39716115ENST0000028008226948_1102112655.0Coiled coilOntology_term=ECO:0000255
TgeneMIA2chr12:11803094chr14:39716115ENST0000055678424725_850111542.0Coiled coilOntology_term=ECO:0000255
TgeneMIA2chr12:11803094chr14:39716115ENST0000055678424948_1102111542.0Coiled coilOntology_term=ECO:0000255
TgeneMIA2chr12:11803094chr14:39716115ENST00000280082261297_1408112655.0Compositional biasPro-rich
TgeneMIA2chr12:11803094chr14:39716115ENST00000556784241297_1408111542.0Compositional biasPro-rich
TgeneMIA2chr12:11803094chr14:39716115ENST0000028008226606_626112655.0IntramembraneOntology_term=ECO:0000255
TgeneMIA2chr12:11803094chr14:39716115ENST0000055678424606_626111542.0IntramembraneOntology_term=ECO:0000255
TgeneMIA2chr12:11803094chr14:39716115ENST0000028008226627_646112655.0Topological domainLumenal
TgeneMIA2chr12:11803094chr14:39716115ENST0000028008226668_1412112655.0Topological domainCytoplasmic
TgeneMIA2chr12:11803094chr14:39716115ENST0000055678424627_646111542.0Topological domainLumenal
TgeneMIA2chr12:11803094chr14:39716115ENST0000055678424668_1412111542.0Topological domainCytoplasmic
TgeneMIA2chr12:11803094chr14:39716115ENST0000028008226647_667112655.0TransmembraneHelical
TgeneMIA2chr12:11803094chr14:39716115ENST0000055678424647_667111542.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneETV6chr12:11803094chr14:39716115ENST00000396373+18339_42011453.0DNA bindingETS
HgeneETV6chr12:11803094chr14:39716115ENST00000396373+1840_12411453.0DomainPNT
TgeneMIA2chr12:11803094chr14:39716115ENST000002800822639_101112655.0DomainSH3
TgeneMIA2chr12:11803094chr14:39716115ENST000005567842439_101111542.0DomainSH3
TgeneMIA2chr12:11803094chr14:39716115ENST000002800822620_605112655.0Topological domainLumenal
TgeneMIA2chr12:11803094chr14:39716115ENST000005567842420_605111542.0Topological domainLumenal


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Fusion Gene Sequence for ETV6-MIA2


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.
>27731_27731_1_ETV6-MIA2_ETV6_chr12_11803094_ENST00000396373_MIA2_chr14_39716115_ENST00000280082_length(transcript)=2342nt_BP=307nt
GCGTCCCGGGTCCCCGCGCCGCGCCGCGACCTGCAGACCCCGCCGCCGCGCTCGGGCCCGTCTCCCACGCCCCCGCCGCCCCGCGCGCCC
AACTCCGCCGGCCGCCCCGCCCCGCCCCGCGCGCTCCAGACCCCCGGGGCGGCTGCCGGGAGAGATGCTGGAAGAAACTTCTTAAATGAC
CGCGTCTGGCTGGCCGTGGAGCCTTTCTGGGTTGGGGAGAGGAAAGGAAAGTGGAAAAAACCTGAGAACTTCCTGATCTCTCTCGCTGTG
AGACATGTCTGAGACTCCTGCTCAGTGTAGCATTAAGGAATCTGACTTTCTTTGTCTTCTTGGAGTAAGTTACACATTTGACAATGAAGA
TAGTGAATTAAACGGTGATTATGGTGAAAATATATATCCTTATGAAGAAGATAAAGATGAAAAATCTAGTATATATGAAAGTGATTTTCA
GATAGAACCTGGATTTTATGCAACTTATGAAAGTACTTTGTTTGAAGACCAAGTTCCAGCATTAGAGGCTCCTGAAGATATCGGAAGTAC
CAGTGAATCAAAAGACTGGGAAGAAGTAGTTGTTGAAAGTATGGAACAGGATCGTATTCCAGAAGTGCATGTCCCACCATCTTCAGCTGT
GTCTGGAGTCAAAGAATGGTTTGGATTGGGAGGAGAACAAGCTGAAGAGAAGGCTTTTGAATCAGTTATTGAACCTGTACAAGAAAGCTC
ATTTCGGAGTAGAAAAATAGCAGTGGAAGATGAGAATGACCTAGAGGAATTAAATAATGGTGAGCCTCAAACAGAACATCAGCAAGAATC
TGAATCAGAAATTGATTCAGTGCCAAAGACACAGTCTGAACTAGCATCTGAGTCAGAGCACATTCCCAAACCTCAATCCACTGGTTGGTT
TGGTGGAGGATTTACAAGTTATTTAGGTTTTGGAGATGAGGATACAGGGCTTGAATTAATAGCTGAAGAAAGCAATCCACCACTACAAGA
TTTTCCCAATTCCATATCATCTGATAAAGAAGCCACAGTTCCATGTACAGAAATATTAACAGAAAAAAAAGACACAATCACTAATGATAG
CTTGAGTCTCAAGCCAAGTTGGTTTGATTTTGGTTTTGCTATACTAGGCTTTGCATATGCCAAGGAAGATAAAATTATGTTAGATGACAG
GAAAAATGAAGAAGATGGTGGGGCAGATGAACATGAACATCCTCTAACAAGTGAATTAGACCCTGAAAAAGAACAAGAAATAGAAACGAT
AAAAATTATAGAAACAGAAGATCAAATAGACAAGAAACCAGTCTCAGAAAAAACAGACGAATCTGATACTATACCATATTTGAAAAAGTT
CTTGTATAATTTTGACAACCCTTGGAACTTCCAGAACATTCCAAAGGAAACAGAATTGCCATTTCCCAAACAGATACTGGATCAAAATAA
TGTAATTGAAAATGAAGAAACTGGAGAATTTTCCATTGATAATTATCCCACAGATAATACAAAAGTTATGATATTCAAAAGTTCATACAG
TCTGTCAGATATGGTCTCTAACATAGAGTTACCTACGAGAATTCACGAAGAAGTATATTTTGAACCCTCATCTTCTAAAGATAGTGATGA
AAATTCGAAACCATCAGTAGACACCGAAGGGCCTGCTCTGGTGGAGATAGACAGATCTGTGGAAAATACCCTGCTAAATAGTCAGATGGT
TTCAACTGATAACTCTTTGTCTTCTCAAAATTATATTTCTCAGAAAGAAGATGCTTCTGAGTTTCAGATTCTGAAATACTTATTCCAAAT
TGATGTTTATGATTTCATGAATTCTGCATTTTCACCAATTGTAATTCTTACAGAAAGGGTAAGTTTGCCTTTTAAACCTTTTGCAATAAT
TTTACCTATTTTGCTAAATATAAGAGTGGCTACAAAATATGTTTGAATGAATCCTCCCTGTTTAATGTTTATATAATGTTTCTCTTTCCA
TGACATCTTACCTGTAAGATTTCTCTTTATATGAATGTTTTGTCAAATGGATATTGATTTTTAAAAACATTTCCCTAAGTTTTGTTGATG
TTGATCTTGAGCGGTGTTTGCTTTTTACTCCACCCTCCCCATTTTTCAAATTAGGGAAAGTTAGGTACTAAATAAGTTAACTCAGGAATA
ATAGGAACTAGAGCTGGGTGTGGTGGTGTGTGCCTGGAGTTCCCACTACTTAGGAGGCTGAGGCAGGAGGATCCTTTTACTGAATGTAAC
AAGGAGAATAAAAGGGAAGAGTGAGCCCAAGGGTTTGAGACCAGTCTGGGCAACATAGCTAGACCTTATCTCTTAAAAAAGAAAAAAAAA

>27731_27731_1_ETV6-MIA2_ETV6_chr12_11803094_ENST00000396373_MIA2_chr14_39716115_ENST00000280082_length(amino acids)=553AA_BP=11
MSETPAQCSIKESDFLCLLGVSYTFDNEDSELNGDYGENIYPYEEDKDEKSSIYESDFQIEPGFYATYESTLFEDQVPALEAPEDIGSTS
ESKDWEEVVVESMEQDRIPEVHVPPSSAVSGVKEWFGLGGEQAEEKAFESVIEPVQESSFRSRKIAVEDENDLEELNNGEPQTEHQQESE
SEIDSVPKTQSELASESEHIPKPQSTGWFGGGFTSYLGFGDEDTGLELIAEESNPPLQDFPNSISSDKEATVPCTEILTEKKDTITNDSL
SLKPSWFDFGFAILGFAYAKEDKIMLDDRKNEEDGGADEHEHPLTSELDPEKEQEIETIKIIETEDQIDKKPVSEKTDESDTIPYLKKFL
YNFDNPWNFQNIPKETELPFPKQILDQNNVIENEETGEFSIDNYPTDNTKVMIFKSSYSLSDMVSNIELPTRIHEEVYFEPSSSKDSDEN
SKPSVDTEGPALVEIDRSVENTLLNSQMVSTDNSLSSQNYISQKEDASEFQILKYLFQIDVYDFMNSAFSPIVILTERVSLPFKPFAIIL

--------------------------------------------------------------
>27731_27731_2_ETV6-MIA2_ETV6_chr12_11803094_ENST00000396373_MIA2_chr14_39716115_ENST00000556784_length(transcript)=1600nt_BP=307nt
GCGTCCCGGGTCCCCGCGCCGCGCCGCGACCTGCAGACCCCGCCGCCGCGCTCGGGCCCGTCTCCCACGCCCCCGCCGCCCCGCGCGCCC
AACTCCGCCGGCCGCCCCGCCCCGCCCCGCGCGCTCCAGACCCCCGGGGCGGCTGCCGGGAGAGATGCTGGAAGAAACTTCTTAAATGAC
CGCGTCTGGCTGGCCGTGGAGCCTTTCTGGGTTGGGGAGAGGAAAGGAAAGTGGAAAAAACCTGAGAACTTCCTGATCTCTCTCGCTGTG
AGACATGTCTGAGACTCCTGCTCAGTGTAGCATTAAGGAATCTGACTTTCTTTGTCTTCTTGGAGTAAGTTACACATTTGACAATGAAGA
TAGTGAATTAAACGGTGATTATGGTGAAAATATATATCCTTATGAAGAAGATAAAGATGAAAAATCTAGTATATATGAAAGTGATTTTCA
GATAGAACCTGGATTTTATGCAACTTATGAAAGTACTTTGTTTGAAGACCAAGTTCCAGCATTAGAGGCTCCTGAAGATATCGGAAGTAC
CAGTGAATCAAAAGACTGGGAAGAAGTAGTTGTTGAAAGTATGGAACAGGATCGTATTCCAGAAGTGCATGTCCCACCATCTTCAGCTGT
GTCTGGAGTCAAAGAATGGTTTGGATTGGGAGGAGAACAAGCTGAAGAGAAGGCTTTTGAATCAGTTATTGAACCTGTACAAGAAAGCTC
ATTTCGGAGTAGAAAAATAGCAGTGGAAGATGAGAATGACCTAGAGGAATTAAATAATGGTGAGCCTCAAACAGAACATCAGCAAGAATC
TGAATCAGAAATTGATTCAGTGCCAAAGACACAGTCTGAACTAGCATCTGAGTCAGAGCACATTCCCAAACCTCAATCCACTGGTTGGTT
TGGTGGAGGATTTACAAGTTATTTAGGTTTTGGAGATGAGGATACAGGGCTTGAATTAATAGCTGAAGAAAGCAATCCACCACTACAAGA
TTTTCCCAATTCCATATCATCTGATAAAGAAGCCACAGTTCCATGTACAGAAATATTAACAGAAAAAAAAGACACAATCACTAATGATAG
CTTGAGTCTCAAGCCAAGTTGGTTTGATTTTGGTTTTGCTATACTAGGCTTTGCATATGCCAAGGAAGATAAAATTATGTTAGATGACAG
GAAAAATGAAGAAGATGGTGGGGCAGATGAACATGAACATCCTCTAACAAGTGAATTAGACCCTGAAAAAGAACAAGAAATAGAAACGAT
AAAAATTATAGAAACAGAAGATCAAATAGACAAGAAACCAGTCTCAGAAAAAACAGACGAATCTGATACTATACCATATTTGAAAAAGTT
CTTGTATAATTTTGACAACCCTTGGAACTTCCAGAACATTCCAAAGGAAACAGAATTGCCATTTCCCAAACAGATACTGGATCAAAATAA
TGTAATTGAAAATGAAGAAACTGGAGAATTTTCCATTGATAATTATCCCACAGATAATACAAAAGTTATGATATTCAAAAGTTCATACAG

>27731_27731_2_ETV6-MIA2_ETV6_chr12_11803094_ENST00000396373_MIA2_chr14_39716115_ENST00000556784_length(amino acids)=442AA_BP=11
MSETPAQCSIKESDFLCLLGVSYTFDNEDSELNGDYGENIYPYEEDKDEKSSIYESDFQIEPGFYATYESTLFEDQVPALEAPEDIGSTS
ESKDWEEVVVESMEQDRIPEVHVPPSSAVSGVKEWFGLGGEQAEEKAFESVIEPVQESSFRSRKIAVEDENDLEELNNGEPQTEHQQESE
SEIDSVPKTQSELASESEHIPKPQSTGWFGGGFTSYLGFGDEDTGLELIAEESNPPLQDFPNSISSDKEATVPCTEILTEKKDTITNDSL
SLKPSWFDFGFAILGFAYAKEDKIMLDDRKNEEDGGADEHEHPLTSELDPEKEQEIETIKIIETEDQIDKKPVSEKTDESDTIPYLKKFL

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Fusion Gene PPI Analysis for ETV6-MIA2


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 ETV6-MIA2


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 ETV6-MIA2


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