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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: 21461

FusionGeneSummary for MED13L_PTPRR

check button Fusion gene summary
Fusion gene informationFusion gene name: MED13L_PTPRR
Fusion gene ID: 21461
HgeneTgene
Gene symbol

MED13L

PTPRR

Gene ID

23389

5801

Gene namemediator complex subunit 13 likeprotein tyrosine phosphatase, receptor type R
SynonymsMRFACD|PROSIT240|THRAP2|TRAP240LEC-PTP|PCPTP1|PTP-SL|PTPBR7|PTPRQ
Cytomap

12q24.21

12q15

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-likereceptor-type tyrosine-protein phosphatase RCh-1 PTPaseNC-PTPCOM1R-PTP-Rch-1PTPaseprotein tyrosine phosphatase Cr1PTPaseprotein-tyrosine phosphatase NC-PTPCOM1protein-tyrosine phosphatase PCPTP1
Modification date2018052320180519
UniProtAcc

Q71F56

Q15256

Ensembl transtripts involved in fusion geneENST00000281928, ENST00000551197, 
ENST00000283228, ENST00000440835, 
ENST00000537619, ENST00000378778, 
ENST00000342084, ENST00000549308, 
Fusion gene scores* DoF score21 X 13 X 12=327633 X 13 X 10=4290
# samples 2331
** MAII scorelog2(23/3276*10)=-3.83222959069663
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(31/4290*10)=-3.79063752711267
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MED13L [Title/Abstract] AND PTPRR [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

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
TCGARVCOADTCGA-CM-6675-01AMED13Lchr12

116534474

-PTPRRchr12

71158558

-
* 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
Frame-shitENST00000281928ENST00000283228MED13Lchr12

116534474

-PTPRRchr12

71158558

-
5CDS-intronENST00000281928ENST00000440835MED13Lchr12

116534474

-PTPRRchr12

71158558

-
5CDS-intronENST00000281928ENST00000537619MED13Lchr12

116534474

-PTPRRchr12

71158558

-
5CDS-intronENST00000281928ENST00000378778MED13Lchr12

116534474

-PTPRRchr12

71158558

-
5CDS-intronENST00000281928ENST00000342084MED13Lchr12

116534474

-PTPRRchr12

71158558

-
5CDS-intronENST00000281928ENST00000549308MED13Lchr12

116534474

-PTPRRchr12

71158558

-
intron-3CDSENST00000551197ENST00000283228MED13Lchr12

116534474

-PTPRRchr12

71158558

-
intron-intronENST00000551197ENST00000440835MED13Lchr12

116534474

-PTPRRchr12

71158558

-
intron-intronENST00000551197ENST00000537619MED13Lchr12

116534474

-PTPRRchr12

71158558

-
intron-intronENST00000551197ENST00000378778MED13Lchr12

116534474

-PTPRRchr12

71158558

-
intron-intronENST00000551197ENST00000342084MED13Lchr12

116534474

-PTPRRchr12

71158558

-
intron-intronENST00000551197ENST00000549308MED13Lchr12

116534474

-PTPRRchr12

71158558

-

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FusionProtFeatures for MED13L_PTPRR


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

Q71F56

PTPRR

Q15256

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. Sequesters mitogen-activated protein kinases (MAPKs)such as MAPK1, MAPK3 and MAPK14 in the cytoplasm in an inactiveform. The MAPKs bind to a dephosphorylated kinase interactingmotif, phosphorylation of which by the protein kinase A complexreleases the MAPKs for activation and translocation into thenucleus (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

- 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_PTPRR


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_PTPRR


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, TRIM25PTPRRMAPK1, MAPK3, MAPK7, MAPK14, NTRK1, CEP290, EGFR, ERBB2, IGF1R, RET, MST1R, ERBB4, FGFR2, FGFR4, KDR, TEK, INSR, ALDH18A1, DHPS, PNMA2, TRIM11, KIAA0196, TBC1D5, DNAJC13, SNX6, PTPRR, MAPK1IP1L, MAPKAPK3, MAD2L1BP, CBS, MAPK11, CCT8L1P, HSPA4L, LMTK2, AATK, ERBB3, RYK, ROR1, ROR2, PTK7, EPHA2


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_PTPRR


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_PTPRR


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
TgenePTPRRC0041696Unipolar Depression1PSYGENET
TgenePTPRRC1269683Major Depressive Disorder1PSYGENET