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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:MED16-CAPN8 (FusionGDB2 ID:52628)

Fusion Gene Summary for MED16-CAPN8

check button Fusion gene summary
Fusion gene informationFusion gene name: MED16-CAPN8
Fusion gene ID: 52628
HgeneTgene
Gene symbol

MED16

CAPN8

Gene ID

10025

388743

Gene namemediator complex subunit 16calpain 8
SynonymsDRIP92|THRAP5|TRAP95nCL-2
Cytomap

19p13.3

1q41

Type of geneprotein-codingprotein-coding
Descriptionmediator of RNA polymerase II transcription subunit 16thyroid hormone receptor-associated protein 5thyroid hormone receptor-associated protein complex 95 kDa componentthyroid hormone receptor-associated protein, 95-kD subunitvitamin D3 receptor-interacalpain-8new calpain 2stomach-specific M-type calpain
Modification date2020031320200313
UniProtAcc

Q9Y2X0

A6NHC0

Ensembl transtripts involved in fusion geneENST00000269814, ENST00000312090, 
ENST00000325464, ENST00000395808, 
ENST00000589119, ENST00000606828, 
ENST00000366873, ENST00000366872, 
Fusion gene scores* DoF score7 X 8 X 7=39212 X 2 X 4=96
# samples 812
** MAII scorelog2(8/392*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/96*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MED16 [Title/Abstract] AND CAPN8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMED16(889638)-CAPN8(223718212), # samples:1
Anticipated loss of major functional domain due to fusion event.MED16-CAPN8 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
MED16-CAPN8 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
MED16-CAPN8 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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
HgeneMED16

GO:0006367

transcription initiation from RNA polymerase II promoter

12218053

HgeneMED16

GO:0045893

positive regulation of transcription, DNA-templated

10198638


check buttonFusion gene breakpoints across MED16 (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 CAPN8 (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
ChimerDB4STADTCGA-CD-5798-01AMED16chr19

889638

-CAPN8chr1

223718212

-


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Fusion Gene ORF analysis for MED16-CAPN8

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
5CDS-intronENST00000269814ENST00000366873MED16chr19

889638

-CAPN8chr1

223718212

-
5CDS-intronENST00000312090ENST00000366873MED16chr19

889638

-CAPN8chr1

223718212

-
5CDS-intronENST00000325464ENST00000366873MED16chr19

889638

-CAPN8chr1

223718212

-
5CDS-intronENST00000395808ENST00000366873MED16chr19

889638

-CAPN8chr1

223718212

-
5CDS-intronENST00000589119ENST00000366873MED16chr19

889638

-CAPN8chr1

223718212

-
Frame-shiftENST00000269814ENST00000366872MED16chr19

889638

-CAPN8chr1

223718212

-
Frame-shiftENST00000312090ENST00000366872MED16chr19

889638

-CAPN8chr1

223718212

-
Frame-shiftENST00000325464ENST00000366872MED16chr19

889638

-CAPN8chr1

223718212

-
Frame-shiftENST00000395808ENST00000366872MED16chr19

889638

-CAPN8chr1

223718212

-
In-frameENST00000589119ENST00000366872MED16chr19

889638

-CAPN8chr1

223718212

-
intron-3CDSENST00000606828ENST00000366872MED16chr19

889638

-CAPN8chr1

223718212

-
intron-intronENST00000606828ENST00000366873MED16chr19

889638

-CAPN8chr1

223718212

-

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)
ENST00000589119MED16chr19889638-ENST00000366872CAPN8chr1223718212-9424470725241

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
ENST00000589119ENST00000366872MED16chr19889638-CAPN8chr1223718212-0.067923830.93207616

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Fusion Genomic Features for MED16-CAPN8


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

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.

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Fusion Protein Features for MED16-CAPN8


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/chr19:889638/chr1:223718212)
- 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
MED16

Q9Y2X0

CAPN8

A6NHC0

FUNCTION: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. {ECO:0000269|PubMed:10198638, ECO:0000269|PubMed:10235266}.FUNCTION: Calcium-regulated non-lysosomal thiol-protease. Involved in membrane trafficking in the gastric surface mucus cells (pit cells) and may involve the membrane trafficking of mucus cells via interactions with coat protein. Proteolytically cleaves the beta-subunit of coatomer complex (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
HgeneMED16chr19:889638chr1:223718212ENST00000269814-41421_71149752.0RepeatNote=WD 1
HgeneMED16chr19:889638chr1:223718212ENST00000269814-41472_119149752.0RepeatNote=WD 2
HgeneMED16chr19:889638chr1:223718212ENST00000312090-41621_71149861.0RepeatNote=WD 1
HgeneMED16chr19:889638chr1:223718212ENST00000312090-41672_119149861.0RepeatNote=WD 2
HgeneMED16chr19:889638chr1:223718212ENST00000325464-41621_71149878.0RepeatNote=WD 1
HgeneMED16chr19:889638chr1:223718212ENST00000325464-41672_119149878.0RepeatNote=WD 2
HgeneMED16chr19:889638chr1:223718212ENST00000395808-41521_71149842.0RepeatNote=WD 1
HgeneMED16chr19:889638chr1:223718212ENST00000395808-41572_119149842.0RepeatNote=WD 2
HgeneMED16chr19:889638chr1:223718212ENST00000589119-31521_71149878.0RepeatNote=WD 1
HgeneMED16chr19:889638chr1:223718212ENST00000589119-31572_119149878.0RepeatNote=WD 2
TgeneCAPN8chr19:889638chr1:223718212ENST000003668721520588_599589682.0Calcium binding1
TgeneCAPN8chr19:889638chr1:223718212ENST000003668721520618_629589682.0Calcium binding2
TgeneCAPN8chr19:889638chr1:223718212ENST000003668721520605_640589682.0DomainEF-hand 2
TgeneCAPN8chr19:889638chr1:223718212ENST000003668721520670_703589682.0DomainEF-hand 3

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMED16chr19:889638chr1:223718212ENST00000269814-414120_165149752.0RepeatNote=WD 3
HgeneMED16chr19:889638chr1:223718212ENST00000269814-414166_203149752.0RepeatNote=WD 4
HgeneMED16chr19:889638chr1:223718212ENST00000269814-414204_257149752.0RepeatNote=WD 5
HgeneMED16chr19:889638chr1:223718212ENST00000269814-414258_334149752.0RepeatNote=WD 6
HgeneMED16chr19:889638chr1:223718212ENST00000269814-414335_415149752.0RepeatNote=WD 7
HgeneMED16chr19:889638chr1:223718212ENST00000269814-414416_460149752.0RepeatNote=WD 8
HgeneMED16chr19:889638chr1:223718212ENST00000269814-414461_495149752.0RepeatNote=WD 9
HgeneMED16chr19:889638chr1:223718212ENST00000312090-416120_165149861.0RepeatNote=WD 3
HgeneMED16chr19:889638chr1:223718212ENST00000312090-416166_203149861.0RepeatNote=WD 4
HgeneMED16chr19:889638chr1:223718212ENST00000312090-416204_257149861.0RepeatNote=WD 5
HgeneMED16chr19:889638chr1:223718212ENST00000312090-416258_334149861.0RepeatNote=WD 6
HgeneMED16chr19:889638chr1:223718212ENST00000312090-416335_415149861.0RepeatNote=WD 7
HgeneMED16chr19:889638chr1:223718212ENST00000312090-416416_460149861.0RepeatNote=WD 8
HgeneMED16chr19:889638chr1:223718212ENST00000312090-416461_495149861.0RepeatNote=WD 9
HgeneMED16chr19:889638chr1:223718212ENST00000325464-416120_165149878.0RepeatNote=WD 3
HgeneMED16chr19:889638chr1:223718212ENST00000325464-416166_203149878.0RepeatNote=WD 4
HgeneMED16chr19:889638chr1:223718212ENST00000325464-416204_257149878.0RepeatNote=WD 5
HgeneMED16chr19:889638chr1:223718212ENST00000325464-416258_334149878.0RepeatNote=WD 6
HgeneMED16chr19:889638chr1:223718212ENST00000325464-416335_415149878.0RepeatNote=WD 7
HgeneMED16chr19:889638chr1:223718212ENST00000325464-416416_460149878.0RepeatNote=WD 8
HgeneMED16chr19:889638chr1:223718212ENST00000325464-416461_495149878.0RepeatNote=WD 9
HgeneMED16chr19:889638chr1:223718212ENST00000395808-415120_165149842.0RepeatNote=WD 3
HgeneMED16chr19:889638chr1:223718212ENST00000395808-415166_203149842.0RepeatNote=WD 4
HgeneMED16chr19:889638chr1:223718212ENST00000395808-415204_257149842.0RepeatNote=WD 5
HgeneMED16chr19:889638chr1:223718212ENST00000395808-415258_334149842.0RepeatNote=WD 6
HgeneMED16chr19:889638chr1:223718212ENST00000395808-415335_415149842.0RepeatNote=WD 7
HgeneMED16chr19:889638chr1:223718212ENST00000395808-415416_460149842.0RepeatNote=WD 8
HgeneMED16chr19:889638chr1:223718212ENST00000395808-415461_495149842.0RepeatNote=WD 9
HgeneMED16chr19:889638chr1:223718212ENST00000589119-315120_165149878.0RepeatNote=WD 3
HgeneMED16chr19:889638chr1:223718212ENST00000589119-315166_203149878.0RepeatNote=WD 4
HgeneMED16chr19:889638chr1:223718212ENST00000589119-315204_257149878.0RepeatNote=WD 5
HgeneMED16chr19:889638chr1:223718212ENST00000589119-315258_334149878.0RepeatNote=WD 6
HgeneMED16chr19:889638chr1:223718212ENST00000589119-315335_415149878.0RepeatNote=WD 7
HgeneMED16chr19:889638chr1:223718212ENST00000589119-315416_460149878.0RepeatNote=WD 8
HgeneMED16chr19:889638chr1:223718212ENST00000589119-315461_495149878.0RepeatNote=WD 9
TgeneCAPN8chr19:889638chr1:223718212ENST00000366872152045_344589682.0DomainCalpain catalytic
TgeneCAPN8chr19:889638chr1:223718212ENST000003668721520575_610589682.0DomainEF-hand 1
TgeneCAPN8chr19:889638chr1:223718212ENST000003668721520356_379589682.0RegionNote=Domain III


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Fusion Gene Sequence for MED16-CAPN8


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.
>52628_52628_1_MED16-CAPN8_MED16_chr19_889638_ENST00000589119_CAPN8_chr1_223718212_ENST00000366872_length(transcript)=942nt_BP=447nt
ATGTGTGATTTGCGGCGGCCAGCGGCAGGTGGGATGATGGACTTGGCCTACGTCTGTGAGTGGGAGAAATGGTCCAAGAGCACCCACTGC
CCATCGGTGCCCCTGGCCTGCGCCTGGTCCTGCCGAAATCTCATCGCCTTCACCATGGACCTGCGCAGCGATGACCAGGACCTGACCCGC
ATGATCCACATCCTGGACACGGAGCACCCCTGGGACCTGCACTCGATCCCCTCAGAGCACCACGAGGCCATCACCTGCCTGGAGTGGGAC
CAGTCAGGCTCCCGGCTCCTGTCAGCAGATGCCGACGGGCAGATCAAGTGCTGGAGCATGGCGGACCACCTGGCTAATAGCTGGGAGAGC
TCAGTGGGCAGCCTAGTGGAGGGGGACCCCATTGTGGCCCTGTCCTGGCTGCACAATGGTGTGAAACTGGCCCTGCACGTGGAGAAGGAG
ATCTATTGGGAAACTGATTATAACCACTCGGGCACCATCGATGCCCACGAGATGAGGACAGCCCTCAGGAAGGCAGGTTTCACCCTCAAC
AGCCAGGTGCAGCAGACCATTGCCCTGCGGTATGCGTGCAGCAAGCTCGGCATCAACTTTGACAGCTTCGTGGCTTGTATGATCCGCCTG
GAGACCCTCTTCAAACTATTCAGCCTTCTGGACGAAGACAAGGATGGCATGGTTCAGCTCTCTCTGGCCGAGTGGCTGTGCTGCGTGTTG
GTCTGACCCGGGGTTTCGGACATCAGTGACACTCCCTGCCCCACTGCTTGCTTCTTGTCACCCCTTCTCTACAATTTTGTGAACATTTAT
GCTCCAGTGGCATTCACTGGTTGTTCATACCTTTCTTGCCCTGGGTCTATTTCAGCAGCACTGAGCTATGAGCTATGTAAGCCGACCCGG

>52628_52628_1_MED16-CAPN8_MED16_chr19_889638_ENST00000589119_CAPN8_chr1_223718212_ENST00000366872_length(amino acids)=241AA_BP=149
MCDLRRPAAGGMMDLAYVCEWEKWSKSTHCPSVPLACAWSCRNLIAFTMDLRSDDQDLTRMIHILDTEHPWDLHSIPSEHHEAITCLEWD
QSGSRLLSADADGQIKCWSMADHLANSWESSVGSLVEGDPIVALSWLHNGVKLALHVEKEIYWETDYNHSGTIDAHEMRTALRKAGFTLN

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

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Fusion Gene PPI Analysis for MED16-CAPN8


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 MED16-CAPN8


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 MED16-CAPN8


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