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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 21452

FusionGeneSummary for MED13L_HRK

check button Fusion gene summary
Fusion gene informationFusion gene name: MED13L_HRK
Fusion gene ID: 21452
HgeneTgene
Gene symbol

MED13L

HRK

Gene ID

23389

8739

Gene namemediator complex subunit 13 likeharakiri, BCL2 interacting protein
SynonymsMRFACD|PROSIT240|THRAP2|TRAP240LDP5|HARAKIRI
Cytomap

12q24.21

12q24.22

Type of geneprotein-codingprotein-coding
Descriptionmediator of RNA polymerase II transcription subunit 13-likethyroid hormone receptor-associated protein 2thyroid hormone receptor-associated protein complex 240 kDa component-likeactivator of apoptosis harakiriBH3-interacting domain-containing protein 3activator of apoptosis Hrkdeath protein 5harakiri, BCL2 interacting protein (contains only BH3 domain)neuronal death protein DP5
Modification date2018052320180523
UniProtAcc

Q71F56

O00198

Ensembl transtripts involved in fusion geneENST00000281928, ENST00000551197, 
ENST00000257572, ENST00000552092, 
Fusion gene scores* DoF score21 X 13 X 12=32761 X 1 X 1=1
# samples 231
** MAII scorelog2(23/3276*10)=-3.83222959069663
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

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

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneHRK

GO:0032464

positive regulation of protein homooligomerization

21041309

TgeneHRK

GO:0090200

positive regulation of release of cytochrome c from mitochondria

21041309


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLIHCTCGA-BC-A8YO-01AMED13Lchr12

116714865

-HRKchr12

117299271

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3UTRENST00000281928ENST00000257572MED13Lchr12

116714865

-HRKchr12

117299271

-
5CDS-5UTRENST00000281928ENST00000552092MED13Lchr12

116714865

-HRKchr12

117299271

-
5UTR-3UTRENST00000551197ENST00000257572MED13Lchr12

116714865

-HRKchr12

117299271

-
5UTR-5UTRENST00000551197ENST00000552092MED13Lchr12

116714865

-HRKchr12

117299271

-

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FusionProtFeatures for MED13L_HRK


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MED13L

Q71F56

HRK

O00198

Component of the Mediator complex, a coactivatorinvolved in the regulated transcription of nearly all RNApolymerase II-dependent genes. Mediator functions as a bridge toconvey information from gene-specific regulatory proteins to thebasal RNA polymerase II transcription machinery. Mediator isrecruited to promoters by direct interactions with regulatoryproteins and serves as a scaffold for the assembly of a functionalpreinitiation complex with RNA polymerase II and the generaltranscription factors. This subunit may specifically regulatetranscription of targets of the Wnt signaling pathway and SHHsignaling pathway. Promotes apoptosis. {ECO:0000269|PubMed:15031724,ECO:0000269|PubMed:9130713}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for MED13L_HRK


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MED13L_HRK


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
MED13LMED10, MED9, MED29, MED19, MED28, MED26, FBXW7, MED1, CDK8, CDK19, MED7, CCNC, HIF1A, MED12, MED16, MED27, MED6, MED4, MED23, SORT1, SYNCRIP, SGTB, MED21, MED18, TRIM25HRKBCL2, BCL2L2, MCL1, BCL2A1, BCL2L1, ELAVL1


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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RelatedDrugs for MED13L_HRK


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MED13L_HRK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMED13LC1837341Transposition of the Great Arteries, Dextro-Looped 11CTD_human;UNIPROT
HgeneMED13LC3714756Intellectual Disability1CTD_human