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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: 21447

FusionGeneSummary for MED13L_COL23A1

check button Fusion gene summary
Fusion gene informationFusion gene name: MED13L_COL23A1
Fusion gene ID: 21447
HgeneTgene
Gene symbol

MED13L

COL23A1

Gene ID

23389

91522

Gene namemediator complex subunit 13 likecollagen type XXIII alpha 1 chain
SynonymsMRFACD|PROSIT240|THRAP2|TRAP240L-
Cytomap

12q24.21

5q35.3

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-likecollagen alpha-1(XXIII) chaincollagen, type XXIII, alpha 1procollagen, type XXIII, alpha 1
Modification date2018052320180523
UniProtAcc

Q71F56

Q86Y22

Ensembl transtripts involved in fusion geneENST00000281928, ENST00000551197, 
ENST00000390654, ENST00000407622, 
ENST00000484750, 
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 COL23A1 [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
TCGARVLUADTCGA-93-A4JQ-01AMED13Lchr12

116714865

-COL23A1chr5

177690325

-
* 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
In-frameENST00000281928ENST00000390654MED13Lchr12

116714865

-COL23A1chr5

177690325

-
In-frameENST00000281928ENST00000407622MED13Lchr12

116714865

-COL23A1chr5

177690325

-
5CDS-intronENST00000281928ENST00000484750MED13Lchr12

116714865

-COL23A1chr5

177690325

-
5UTR-3CDSENST00000551197ENST00000390654MED13Lchr12

116714865

-COL23A1chr5

177690325

-
5UTR-3CDSENST00000551197ENST00000407622MED13Lchr12

116714865

-COL23A1chr5

177690325

-
5UTR-intronENST00000551197ENST00000484750MED13Lchr12

116714865

-COL23A1chr5

177690325

-

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FusionProtFeatures for MED13L_COL23A1


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

Q71F56

COL23A1

Q86Y22

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.

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
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000390654-729251_305174541DomainNote=Collagen-like 2
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000390654-729321_380174541DomainNote=Collagen-like 3
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000390654-729412_460174541DomainNote=Collagen-like 4
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000390654-729463_522174541DomainNote=Collagen-like 5
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000407622-616251_305138310DomainNote=Collagen-like 2
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000407622-616321_380138310DomainNote=Collagen-like 3
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000407622-616412_460138310DomainNote=Collagen-like 4
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000407622-616463_522138310DomainNote=Collagen-like 5

- In-frame and not-retained protein feature among the 13 regional features.
>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMED13Lchr12:116714865chr5:177690325ENST00000281928-1311566_1610242211Compositional biasNote=Ser-rich
HgeneMED13Lchr12:116714865chr5:177690325ENST00000281928-1311225_1229242211MotifNote=LXXLL motif 2
HgeneMED13Lchr12:116714865chr5:177690325ENST00000281928-131669_673242211MotifNote=LXXLL motif 1
HgeneMED13Lchr12:116714865chr5:177690325ENST00000281928-1311380_1401242211RegionNote=Leucine-zipper
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000390654-7292_536174541Compositional biasNote=Gly-rich
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000407622-6162_536138310Compositional biasNote=Gly-rich
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000390654-729124_243174541DomainNote=Collagen-like 1
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000407622-616124_243138310DomainNote=Collagen-like 1
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000390654-7291_34174541Topological domainCytoplasmic
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000390654-72957_540174541Topological domainExtracellular
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000407622-6161_34138310Topological domainCytoplasmic
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000407622-61657_540138310Topological domainExtracellular
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000390654-72935_56174541TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneCOL23A1chr12:116714865chr5:177690325ENST00000407622-61635_56138310TransmembraneHelical%3B Signal-anchor for type II membrane protein


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FusionGeneSequence for MED13L_COL23A1


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.
>In-frame_MED13L_ENST00000281928_chr12_116714865_-_COL23A1_ENST00000390654_chr5_177690325_-_391aa
MTAAANWVANGASLEDCHSNLFSLGDQGQDGAAGPPGPPGPPGARGPPGDTGKDGPRGAQGPAGPKGEPGQDGEMGPKGPPGPKGEPGVP
GKKGDDGTPSQPGPPGPKGEPGSMGPRGENGVDGAPGPKGEPGHRGTDGAAGPRGAPGLKGEQGDTVVIDYDGRILDALKGPPGPQGPPG
PPGIPGAKGELGLPGAPGIDGEKGPKGQKGDPGEPGPAGLKGEAGEMGLSGLPGADGLKGEKGESASDSLQESLAQLIVEPGPPGPPGPP
GPMGLQGIQGPKGLDGAKGEKGASGERGPSGLPGPVGPPGLIGLPGTKGEKGRPGEPGLDGFPGPRGEKGDRSERGEKGERGVPGRKGVK

>In-frame_MED13L_ENST00000281928_chr12_116714865_-_COL23A1_ENST00000407622_chr5_177690325_-_196aa
MTAAANWVANGASLEDCHSNLFSLGDQGQDGAAGPPGPPGPPGARGPPGDTGKDGPRGAQGPAGPKGEPGQDGEMGPKGPPGPKGEPGVP
GKKGDDGTPSQPGPPGPKGEPGSMGPRGENGVDGAPGPKGEPGHRGTDGAAGPRGDVRDPGLGSVSSCSQRLASSSKKNGSEPPPGCAGC


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_MED13L_ENST00000281928_chr12_116714865_-_COL23A1_ENST00000390654_chr5_177690325_-_1173nt
ATGACTGCGGCAGCGAACTGGGTGGCGAACGGGGCGAGCCTGGAGGATTGTCACTCCAACCTCTTTTCGCTGGGAGACCAAGGACAAGAT
GGAGCTGCTGGGCCTCCGGGGCCCCCTGGACCTCCTGGGGCCCGGGGCCCTCCTGGCGACACTGGGAAAGATGGCCCCAGGGGAGCACAA
GGCCCAGCGGGCCCCAAAGGAGAGCCCGGACAAGACGGCGAGATGGGCCCAAAGGGACCCCCAGGGCCCAAGGGTGAGCCTGGAGTACCT
GGAAAGAAGGGCGACGATGGGACACCAAGCCAGCCTGGACCACCAGGGCCCAAGGGCGAGCCAGGGAGCATGGGGCCTCGGGGAGAGAAC
GGTGTGGACGGTGCCCCAGGACCGAAGGGGGAGCCTGGCCACCGAGGCACGGATGGAGCTGCAGGGCCCCGGGGTGCCCCAGGCCTCAAG
GGCGAGCAGGGAGACACAGTGGTGATCGACTATGATGGCAGGATCTTGGATGCCCTCAAGGGGCCTCCCGGACCACAGGGGCCCCCAGGG
CCACCAGGGATCCCTGGAGCCAAGGGCGAGCTTGGATTGCCCGGTGCCCCAGGAATCGATGGAGAGAAGGGCCCCAAAGGACAGAAAGGA
GACCCAGGAGAGCCTGGGCCAGCAGGACTCAAAGGGGAAGCAGGCGAGATGGGCTTGTCCGGCCTCCCGGGCGCTGACGGCCTCAAGGGG
GAGAAGGGGGAGTCGGCGTCTGACAGCCTACAGGAGAGCCTGGCTCAGCTCATAGTGGAGCCAGGGCCCCCTGGCCCCCCTGGCCCCCCA
GGCCCGATGGGCCTCCAGGGAATCCAGGGTCCCAAGGGCTTGGATGGAGCAAAGGGAGAGAAGGGTGCGTCGGGTGAGAGAGGCCCCAGC
GGCCTGCCTGGGCCAGTTGGCCCACCGGGCCTTATTGGGCTGCCAGGAACCAAAGGAGAGAAGGGCAGACCCGGGGAGCCAGGACTAGAT
GGTTTCCCTGGACCCCGAGGAGAGAAAGGTGATCGGAGCGAGCGTGGAGAGAAGGGAGAACGAGGGGTCCCCGGCCGGAAAGGAGTGAAG
GGCCAGAAGGGCGAGCCGGGACCACCAGGCCTGGACCAGCCGTGTCCCGTGGGCCCCGACGGGCTGCCTGTGCCTGGCTGCTGGCATAAG

>In-frame_MED13L_ENST00000281928_chr12_116714865_-_COL23A1_ENST00000407622_chr5_177690325_-_588nt
ATGACTGCGGCAGCGAACTGGGTGGCGAACGGGGCGAGCCTGGAGGATTGTCACTCCAACCTCTTTTCGCTGGGAGACCAAGGACAAGAT
GGAGCTGCTGGGCCTCCGGGGCCCCCTGGACCTCCTGGGGCCCGGGGCCCTCCTGGCGACACTGGGAAAGATGGCCCCAGGGGAGCACAA
GGCCCAGCGGGCCCCAAAGGAGAGCCCGGACAAGACGGCGAGATGGGCCCAAAGGGACCCCCAGGGCCCAAGGGTGAGCCTGGAGTACCT
GGAAAGAAGGGCGACGATGGGACACCAAGCCAGCCTGGACCACCAGGGCCCAAGGGCGAGCCAGGGAGCATGGGGCCTCGGGGAGAGAAC
GGTGTGGACGGTGCCCCAGGACCGAAGGGGGAGCCTGGCCACCGAGGCACGGATGGAGCTGCAGGGCCCCGGGGTGACGTCCGGGATCCT
GGCCTCGGCTCTGTCTCCTCATGCTCCCAGAGGCTGGCTTCTTCCTCCAAAAAAAATGGATCTGAGCCCCCGCCTGGCTGTGCAGGGTGC


* Fusion transcript sequences (Full-length transcript).
>In-frame_MED13L_ENST00000281928_chr12_116714865_-_COL23A1_ENST00000390654_chr5_177690325_-_2460nt
CCCCCCCGCCAGCCCGGGCCCGCTGCCCCCGGCGCGGCGTCGCCGCGGCGCCTCCCGCCTGCCCGCCGGCCCTCGCGCCCTCCCCCGGCG
GCGGCGGCGGCCCGGCCGCCCCGCGCTCCCCGGCGAGGCGCCGCCGCCCGGCCCGGCCTCGCCTCGGACGCCTCGCTCCGACATGCCCCG
CTCTGGCGGCCGGGCTCGCGGAGGATCATGACTGCGGCAGCGAACTGGGTGGCGAACGGGGCGAGCCTGGAGGATTGTCACTCCAACCTC
TTTTCGCTGGGAGACCAAGGACAAGATGGAGCTGCTGGGCCTCCGGGGCCCCCTGGACCTCCTGGGGCCCGGGGCCCTCCTGGCGACACT
GGGAAAGATGGCCCCAGGGGAGCACAAGGCCCAGCGGGCCCCAAAGGAGAGCCCGGACAAGACGGCGAGATGGGCCCAAAGGGACCCCCA
GGGCCCAAGGGTGAGCCTGGAGTACCTGGAAAGAAGGGCGACGATGGGACACCAAGCCAGCCTGGACCACCAGGGCCCAAGGGCGAGCCA
GGGAGCATGGGGCCTCGGGGAGAGAACGGTGTGGACGGTGCCCCAGGACCGAAGGGGGAGCCTGGCCACCGAGGCACGGATGGAGCTGCA
GGGCCCCGGGGTGCCCCAGGCCTCAAGGGCGAGCAGGGAGACACAGTGGTGATCGACTATGATGGCAGGATCTTGGATGCCCTCAAGGGG
CCTCCCGGACCACAGGGGCCCCCAGGGCCACCAGGGATCCCTGGAGCCAAGGGCGAGCTTGGATTGCCCGGTGCCCCAGGAATCGATGGA
GAGAAGGGCCCCAAAGGACAGAAAGGAGACCCAGGAGAGCCTGGGCCAGCAGGACTCAAAGGGGAAGCAGGCGAGATGGGCTTGTCCGGC
CTCCCGGGCGCTGACGGCCTCAAGGGGGAGAAGGGGGAGTCGGCGTCTGACAGCCTACAGGAGAGCCTGGCTCAGCTCATAGTGGAGCCA
GGGCCCCCTGGCCCCCCTGGCCCCCCAGGCCCGATGGGCCTCCAGGGAATCCAGGGTCCCAAGGGCTTGGATGGAGCAAAGGGAGAGAAG
GGTGCGTCGGGTGAGAGAGGCCCCAGCGGCCTGCCTGGGCCAGTTGGCCCACCGGGCCTTATTGGGCTGCCAGGAACCAAAGGAGAGAAG
GGCAGACCCGGGGAGCCAGGACTAGATGGTTTCCCTGGACCCCGAGGAGAGAAAGGTGATCGGAGCGAGCGTGGAGAGAAGGGAGAACGA
GGGGTCCCCGGCCGGAAAGGAGTGAAGGGCCAGAAGGGCGAGCCGGGACCACCAGGCCTGGACCAGCCGTGTCCCGTGGGCCCCGACGGG
CTGCCTGTGCCTGGCTGCTGGCATAAGTGACCCACAGGCCCAGCTCACACCTGTACAGATCCGTGTGGACATTTTTAATTTTTGTAAAAA
CAAAACAGTAATATATTGATCTTTTTTCATGGAATGCGCTACCTGTGGCCTTTTAACATTCAAGAGTATGCCCACCCAGCCCCAAAGCCA
CCGGCATGTGAAGCTGCCGGAAAGTGGACAGGCCAGACCAGGGAGATGTGTACCTGAGGGGCACCCTTGGGCCTGGGCTTTCCCAGGAAG
GAGATGAAGGTAGAAGCACCTGGCTCGGGCAAGGCTAGAAAGATGCTACGTTGGGCCTTCAGTCACCTGATCAGCAGAGAGACTCTCAGC
TGTGGTACTGCCCTGTAAGAACCTGCCCCCGCAAAACTCTGGAGTCCCTGGGACACACCCTATCCAAGAAGACCCAGGGGTGGAACAGCG
GCTGCTGTTGCTCCTGGCCTCATCAGCCTCCAAACTCAACCACAACCAGCTGCCTCTGCAGTTGGACAAGACTTGGCCCCCGGACAAGAC
TCGCCCAGCACTTGCGGCTGGGCCCGGGGAGCAGTGAGTGGAAATCCCCCACGAGGGTCTAGCTCTACCACATTCAGGAGGCCTCAGGAG
GCCAGCCTGCCATGAGAGCACATGTCCTCTGGCCAGGAGTAGTGGCTGAGCTCTGTGATCGCTGTGATGTGGACCCAGCTCCAGGGAGCA
GAGTGTCGAGGATGGAGGGGCCCAGCCTGGACTGACTGCTACTTCCTGTCTCTGTTTCCATTATCACCCAGAGAGGGACAAGATAGGACA
TGGCCTGGACCAGGGAGGCAGGCCTCCCACTCAGAGTCTGGGTCTCACTGGCCCCAAGTCTCCCACCCAGAACTCTGGCCAAAAATGGCT
CTCTAGGTGGGCTGTGCAGGCAAAGCAAAGCTCAGGGCTGGTTCCCAGCTGGCCTGAGCAGGGGGCCTGCCACCAGACCCACCCACGCTC
TGACGAGAGGCTTTTCCACCTCCAGCAAGTGTTCCCAGCAACCAGCTCCATCCTGGCTGCTTGCCTTCCATTTCCGTGTAGATGGAGATC

>In-frame_MED13L_ENST00000281928_chr12_116714865_-_COL23A1_ENST00000407622_chr5_177690325_-_795nt
CCCCCCCGCCAGCCCGGGCCCGCTGCCCCCGGCGCGGCGTCGCCGCGGCGCCTCCCGCCTGCCCGCCGGCCCTCGCGCCCTCCCCCGGCG
GCGGCGGCGGCCCGGCCGCCCCGCGCTCCCCGGCGAGGCGCCGCCGCCCGGCCCGGCCTCGCCTCGGACGCCTCGCTCCGACATGCCCCG
CTCTGGCGGCCGGGCTCGCGGAGGATCATGACTGCGGCAGCGAACTGGGTGGCGAACGGGGCGAGCCTGGAGGATTGTCACTCCAACCTC
TTTTCGCTGGGAGACCAAGGACAAGATGGAGCTGCTGGGCCTCCGGGGCCCCCTGGACCTCCTGGGGCCCGGGGCCCTCCTGGCGACACT
GGGAAAGATGGCCCCAGGGGAGCACAAGGCCCAGCGGGCCCCAAAGGAGAGCCCGGACAAGACGGCGAGATGGGCCCAAAGGGACCCCCA
GGGCCCAAGGGTGAGCCTGGAGTACCTGGAAAGAAGGGCGACGATGGGACACCAAGCCAGCCTGGACCACCAGGGCCCAAGGGCGAGCCA
GGGAGCATGGGGCCTCGGGGAGAGAACGGTGTGGACGGTGCCCCAGGACCGAAGGGGGAGCCTGGCCACCGAGGCACGGATGGAGCTGCA
GGGCCCCGGGGTGACGTCCGGGATCCTGGCCTCGGCTCTGTCTCCTCATGCTCCCAGAGGCTGGCTTCTTCCTCCAAAAAAAATGGATCT


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FusionGenePPI for MED13L_COL23A1


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, TRIM25COL23A1LSM8, EXOSC8


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_COL23A1


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_COL23A1


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
TgeneCOL23A1C0032927Precancerous Conditions1CTD_human