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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:MED13L-WSCD2 (FusionGDB2 ID:52591)

Fusion Gene Summary for MED13L-WSCD2

check button Fusion gene summary
Fusion gene informationFusion gene name: MED13L-WSCD2
Fusion gene ID: 52591
HgeneTgene
Gene symbol

MED13L

WSCD2

Gene ID

23389

9671

Gene namemediator complex subunit 13LWSC domain containing 2
SynonymsMRFACD|PROSIT240|THRAP2|TRAP240L-
Cytomap

12q24.21

12q23.3

Type of geneprotein-codingprotein-coding
Descriptionmediator of RNA polymerase II transcription subunit 13-likemediator complex subunit 13 likethyroid hormone receptor-associated protein 2thyroid hormone receptor-associated protein complex 240 kDa component-likeWSC domain-containing protein 2
Modification date2020032020200313
UniProtAcc

Q71F56

.
Ensembl transtripts involved in fusion geneENST00000281928, ENST00000551197, 
ENST00000261400, ENST00000332082, 
ENST00000549903, ENST00000550529, 
ENST00000547525, 
Fusion gene scores* DoF score30 X 28 X 12=100802 X 4 X 2=16
# samples 363
** MAII scorelog2(36/10080*10)=-4.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/16*10)=0.906890595608518
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MED13L [Title/Abstract] AND WSCD2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMED13L(116675273)-WSCD2(108618516), # samples:3
Anticipated loss of major functional domain due to fusion event.MED13L-WSCD2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
MED13L-WSCD2 seems lost the major protein functional domain in Hgene 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

check buttonFusion gene breakpoints across MED13L (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 WSCD2 (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
ChimerDB4BLCATCGA-ZF-A9RM-01AMED13Lchr12

116675273

-WSCD2chr12

108603898

+
ChimerDB4BLCATCGA-ZF-A9RM-01AMED13Lchr12

116675273

-WSCD2chr12

108618516

+


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Fusion Gene ORF analysis for MED13L-WSCD2

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-intronENST00000281928ENST00000261400MED13Lchr12

116675273

-WSCD2chr12

108603898

+
5CDS-intronENST00000281928ENST00000261400MED13Lchr12

116675273

-WSCD2chr12

108618516

+
5CDS-intronENST00000281928ENST00000332082MED13Lchr12

116675273

-WSCD2chr12

108603898

+
5CDS-intronENST00000281928ENST00000332082MED13Lchr12

116675273

-WSCD2chr12

108618516

+
5CDS-intronENST00000281928ENST00000549903MED13Lchr12

116675273

-WSCD2chr12

108603898

+
5CDS-intronENST00000281928ENST00000549903MED13Lchr12

116675273

-WSCD2chr12

108618516

+
5CDS-intronENST00000281928ENST00000550529MED13Lchr12

116675273

-WSCD2chr12

108603898

+
5CDS-intronENST00000281928ENST00000550529MED13Lchr12

116675273

-WSCD2chr12

108618516

+
5UTR-3CDSENST00000551197ENST00000547525MED13Lchr12

116675273

-WSCD2chr12

108603898

+
5UTR-3CDSENST00000551197ENST00000547525MED13Lchr12

116675273

-WSCD2chr12

108618516

+
5UTR-intronENST00000551197ENST00000261400MED13Lchr12

116675273

-WSCD2chr12

108603898

+
5UTR-intronENST00000551197ENST00000261400MED13Lchr12

116675273

-WSCD2chr12

108618516

+
5UTR-intronENST00000551197ENST00000332082MED13Lchr12

116675273

-WSCD2chr12

108603898

+
5UTR-intronENST00000551197ENST00000332082MED13Lchr12

116675273

-WSCD2chr12

108618516

+
5UTR-intronENST00000551197ENST00000549903MED13Lchr12

116675273

-WSCD2chr12

108603898

+
5UTR-intronENST00000551197ENST00000549903MED13Lchr12

116675273

-WSCD2chr12

108618516

+
5UTR-intronENST00000551197ENST00000550529MED13Lchr12

116675273

-WSCD2chr12

108603898

+
5UTR-intronENST00000551197ENST00000550529MED13Lchr12

116675273

-WSCD2chr12

108618516

+
Frame-shiftENST00000281928ENST00000547525MED13Lchr12

116675273

-WSCD2chr12

108603898

+
In-frameENST00000281928ENST00000547525MED13Lchr12

116675273

-WSCD2chr12

108618516

+

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)
ENST00000281928MED13Lchr12116675273-ENST00000547525WSCD2chr12108618516+33095172071532441

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
ENST00000281928ENST00000547525MED13Lchr12116675273-WSCD2chr12108618516+0.005855160.99414486

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Fusion Genomic Features for MED13L-WSCD2


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.
genomic feature of top 1%

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Fusion Protein Features for MED13L-WSCD2


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/chr12:116675273/chr12:108618516)
- 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
MED13L

Q71F56

.
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. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway.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
TgeneWSCD2chr12:116675273chr12:108618516ENST00000261400310230_324227586.0DomainWSC 2
TgeneWSCD2chr12:116675273chr12:108618516ENST00000332082410230_324227566.0DomainWSC 2
TgeneWSCD2chr12:116675273chr12:108618516ENST0000054752539230_324227566.0DomainWSC 2
TgeneWSCD2chr12:116675273chr12:108618516ENST0000054990329230_324227586.0DomainWSC 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMED13Lchr12:116675273chr12:108618516ENST00000281928-2311566_16101032211.0Compositional biasNote=Ser-rich
HgeneMED13Lchr12:116675273chr12:108618516ENST00000281928-2311225_12291032211.0MotifNote=LXXLL motif 2
HgeneMED13Lchr12:116675273chr12:108618516ENST00000281928-231669_6731032211.0MotifNote=LXXLL motif 1
HgeneMED13Lchr12:116675273chr12:108618516ENST00000281928-2311380_14011032211.0RegionNote=Leucine-zipper
TgeneWSCD2chr12:116675273chr12:108618516ENST00000261400310127_219227586.0DomainWSC 1
TgeneWSCD2chr12:116675273chr12:108618516ENST00000332082410127_219227566.0DomainWSC 1
TgeneWSCD2chr12:116675273chr12:108618516ENST0000054752539127_219227566.0DomainWSC 1
TgeneWSCD2chr12:116675273chr12:108618516ENST0000054990329127_219227586.0DomainWSC 1
TgeneWSCD2chr12:116675273chr12:108618516ENST0000026140031019_41227586.0TransmembraneHelical
TgeneWSCD2chr12:116675273chr12:108618516ENST0000033208241019_41227566.0TransmembraneHelical
TgeneWSCD2chr12:116675273chr12:108618516ENST000005475253919_41227566.0TransmembraneHelical
TgeneWSCD2chr12:116675273chr12:108618516ENST000005499032919_41227586.0TransmembraneHelical


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Fusion Gene Sequence for MED13L-WSCD2


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.
>52591_52591_1_MED13L-WSCD2_MED13L_chr12_116675273_ENST00000281928_WSCD2_chr12_108618516_ENST00000547525_length(transcript)=3309nt_BP=517nt
CCCCCCCGCCAGCCCGGGCCCGCTGCCCCCGGCGCGGCGTCGCCGCGGCGCCTCCCGCCTGCCCGCCGGCCCTCGCGCCCTCCCCCGGCG
GCGGCGGCGGCCCGGCCGCCCCGCGCTCCCCGGCGAGGCGCCGCCGCCCGGCCCGGCCTCGCCTCGGACGCCTCGCTCCGACATGCCCCG
CTCTGGCGGCCGGGCTCGCGGAGGATCATGACTGCGGCAGCGAACTGGGTGGCGAACGGGGCGAGCCTGGAGGATTGTCACTCCAACCTC
TTTTCGCTGGCTGAACTCACGGGAATCAAATGGCGTAGGTACAATTTTGGAGGGCATGGGGACTGTGGACCCATAATTTCAGCCCCAGCC
CAAGATGATCCAATTCTGTTAAGTTTCATCCGCTGTCTGCAAGCTAACCTGCTTTGTGTATGGCGTCGTGATGTCAAACCAGATTGCAAA
GAGTTATGGATATTCTGGTGGGGAGATGAACCCAACCTAGTGGGTGTAATACATCATGAACTGCAGGATGGAAGTGCAGTGTTCCGGGGC
TGCTTCCGCAGGCCCGACAACCTTTCCCTGGCCTTACCCGTGACAGCTGCCATGCTGAACATGTCTGTGGACAAATGCGTGGACTTCTGC
ACTGAGAAGGAGTACCCGCTGGCAGCTCTTGCAGGCACCGCCTGCCACTGTGGGTTTCCCACCACCCGATTCCCGCTCCATGACAGAGAG
GATGAGCAGCTCTGTGCCCAGAAGTGCAGCGCGGAGGAGTTTGAGAGCTGCGGGACTCCTAGTTACTTCATTGTGTACCAGACACAAGTC
CAAGACAACCGTTGCATGGACAGAAGGTTCCTGCCAGGCAAGTCCAAGCAGCTCATTGCTTTGGCCAGCTTCCCAGGTGCTGGCAACACG
TGGGCTCGCCACCTCATTGAATTGGCCACAGGCTTCTACACTGGCAGCTACTACTTCGATGGCTCCCTCTACAACAAAGGGTTTAAAGGT
GAGCGGGACCACTGGCGCAGCGGACGGACCATCTGCATCAAGACGCACGAAAGCGGCCAGAAAGAGATCGAGGCCTTCGACGCCGCCATC
CTGCTCATCCGCAACCCCTACAAAGCCCTCATGGCTGAGTTCAACCGCAAGTACGGCGGCCACATAGGCTTTGCTGCGCATGCCCACTGG
AAGGGCAAAGAGTGGCCAGAGTTCGTGAGGAACTATGCCCCGTGGTGGGCCACTCACACACTGGACTGGCTCAAGTTTGGCAAGAAGGTG
CTGGTGGTGCACTTTGAGGACCTGAAGCAGGACCTCTTTGTCCAGCTGGGCCGGATGGTCAGCCTGCTGGGCGTGGCTGTCAGGGAGGAC
CGGCTGCTCTGTGTGGAGAGCCAGAAGGATGGCAACTTCAAGCGCTCAGGGCTCCGGAAGCTCGAGTATGACCCCTATACTGCGGACATG
CAGAAGACCATCTCTGCCTACATCAAGATGGTGGATGCAGCCCTCAAAGGGCGGAACCTAACGGGTGTCCCCGATGACTACTACCCAAGA
TGATGCGTCCACACAGGGGGAGGGTAGACTGGGAGTCCTGACCACGCAGGCCCTGGGGACTCAAGACCCCTGGTTACCCCCACTCATCTG
TCCTCTCTTTGGTCTGGGGACAATCCCCTTGGCTGCTCTTTGCCTTCAATGAGTTTCCTGCATGACAGAGGAGGCTCAAGGGAAGAGATT
GCCCAGGCACTACCACTCTGCTCACATGTTCCCCCCTTGGCAATGTGGGGCATCTTGTTTAGGGGGTTCTAGTTACATGGACTCTTTTCT
GTCTCCTGGGTCCCTGCCCCCACCACTCTGGGTTCCATTTGTGGGAGGGAGGGCTCATCCACATCATGGAGACTTGCTGGATGCCCCATG
GCAATTGTCAAGGCTCTTGATGCAAGAGCCCAGGGGGCTATTGTAAAAACTTGGCCCCAGATGCTTGTCCCTTCTGGGCTGAGATTTCGC
AGCCCCCTTCTCATCTCCACCCAAGAAGTGCTGGCACCGATGTTTAACTCAGGCCACCTTCTGTTCTAAAGAAAGATTGCTGGGAAGTTT
CTCCGTGGCCTTAGGTTTCTGACATCCTGGATAGTGTGGGGAGGTAATGGTGCTCACAGTAGGTTAATTGGAGACACCATGTGGGGCCAT
TGGTGTTATGAGCCCCCCAGGCCACACTGCTTCTCAGAAATGAGCTGCTTGCCTTTCCACCTCCAGGGCATGAACCCTGCCCCTTTCTAT
CCATGCTGTGTCCAGGAGGTGACCTTGAGATCCTGATACCACCTTCAAGGAACCTCAGGCACCAACAGTGAGCCCACGAGGATGGTCACA
TGCCATGTGCAGAATTTGACTTAAGAGAGAGCCCCAGTGACACATCTCTCCATGGTGGGCTCCAGTCAGTCTTACACTGCCCTTCTGACC
CCTACAAATGGGTCCTTTGCTATCCAGGTGAGACAGCAAGAGTGTTCTTAATCAGATGGAACCACACCCAAAATGGACCCCCACTACCTT
CCCAGACCATATATCTCCCCTTGATCATAGTCCAACAGGGCCAGCTTCCCTTGGGGGCCCTTTAAGGAATGGGGTGAATGAAATTGTGTC
ATTTCTATACAAACACTGCTCTCTTGATGCTGAAATGCCAAACCGAAGGATTTCTGAGGACCTAAATCACGGAGCATCAATCTTACAAAG
TGTTGGTCCAGAGTCCCATCTCTTCCCCAACCCTGGATACCAGTAGCTTCCCACCCAGTCCAAACCTGCACCATCCATCATTATGTAGAT
GAAAAAGCCATAGGTCATAGCCTCTTTGCTATTCTATTGGAGTAGCCTCCCTAGGCAGTCCCTCTGAAGCCTTGGAGTGCAGGTAAATGC
TCATTCCCAAGTAGCAAAGAGACCATGGAGAAGGTGCGTGTAAAGAGATATATTTTTGTAAGAGGAATATGATTAATACATTCCGCCCCT
TGGAACCTGGCCATGCAAAGCAAGGGCACAGGGATTAGACCTGTGGCACACTTCCCCAATTCCCTCATCTGTAGGATTTGGGCTGCCCCA
GGCCCACCCAGGGGGCTCTGAATGTATTTTGTACCGTGTTTCTTTCCCCCAGGAGAATTTTTAGTCTTCTTTCATGAAGCAGTGGAGGGG
TTGGCCTCCCTTCTACTGGGAGGTTGACTCTCTCTGGGAGACTCTTGGTCCAAGACCTGGGTCAGTTCTTTGCTGGTGGTCCCCTCTGAC

>52591_52591_1_MED13L-WSCD2_MED13L_chr12_116675273_ENST00000281928_WSCD2_chr12_108618516_ENST00000547525_length(amino acids)=441AA_BP=103
MTAAANWVANGASLEDCHSNLFSLAELTGIKWRRYNFGGHGDCGPIISAPAQDDPILLSFIRCLQANLLCVWRRDVKPDCKELWIFWWGD
EPNLVGVIHHELQDGSAVFRGCFRRPDNLSLALPVTAAMLNMSVDKCVDFCTEKEYPLAALAGTACHCGFPTTRFPLHDREDEQLCAQKC
SAEEFESCGTPSYFIVYQTQVQDNRCMDRRFLPGKSKQLIALASFPGAGNTWARHLIELATGFYTGSYYFDGSLYNKGFKGERDHWRSGR
TICIKTHESGQKEIEAFDAAILLIRNPYKALMAEFNRKYGGHIGFAAHAHWKGKEWPEFVRNYAPWWATHTLDWLKFGKKVLVVHFEDLK

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Fusion Gene PPI Analysis for MED13L-WSCD2


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 MED13L-WSCD2


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 MED13L-WSCD2


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