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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: 38760

FusionGeneSummary for TMPRSS2_MLLT3

check button Fusion gene summary
Fusion gene informationFusion gene name: TMPRSS2_MLLT3
Fusion gene ID: 38760
HgeneTgene
Gene symbol

TMPRSS2

MLLT3

Gene ID

7113

4300

Gene nametransmembrane serine protease 2MLLT3, super elongation complex subunit
SynonymsPP9284|PRSS10AF9|YEATS3
Cytomap

21q22.3

9p21.3

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protease serine 2epitheliasinserine protease 10transmembrane protease, serine 2protein AF-9ALL1-fused gene from chromosome 9 proteinYEATS domain-containing protein 3myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 3myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translo
Modification date2018052320180519
UniProtAcc

O15393

P42568

Ensembl transtripts involved in fusion geneENST00000332149, ENST00000398585, 
ENST00000458356, ENST00000497881, 
ENST00000380338, ENST00000355930, 
ENST00000429426, ENST00000475957, 
ENST00000380321, 
Fusion gene scores* DoF score29 X 21 X 6=36549 X 18 X 8=1296
# samples 22822
** MAII scorelog2(228/3654*10)=-0.680442809575384
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(22/1296*10)=-2.55849028935997
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMPRSS2 [Title/Abstract] AND MLLT3 [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
HgeneTMPRSS2

GO:0006508

proteolysis

21068237|24227843

HgeneTMPRSS2

GO:0046598

positive regulation of viral entry into host cell

21068237|24227843

TgeneMLLT3

GO:0045893

positive regulation of transcription, DNA-templated

25417107|27105114

TgeneMLLT3

GO:0090090

negative regulation of canonical Wnt signaling pathway

19591803


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
TCGARVPRADTCGA-ZG-A9L1-01ATMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
* 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-shitENST00000332149ENST00000380338TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
5CDS-5UTRENST00000332149ENST00000355930TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
5CDS-5UTRENST00000332149ENST00000429426TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
5CDS-5UTRENST00000332149ENST00000475957TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
5CDS-intronENST00000332149ENST00000380321TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
Frame-shitENST00000398585ENST00000380338TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
5CDS-5UTRENST00000398585ENST00000355930TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
5CDS-5UTRENST00000398585ENST00000429426TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
5CDS-5UTRENST00000398585ENST00000475957TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
5CDS-intronENST00000398585ENST00000380321TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
Frame-shitENST00000458356ENST00000380338TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
5CDS-5UTRENST00000458356ENST00000355930TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
5CDS-5UTRENST00000458356ENST00000429426TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
5CDS-5UTRENST00000458356ENST00000475957TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
5CDS-intronENST00000458356ENST00000380321TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
intron-3CDSENST00000497881ENST00000380338TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
intron-5UTRENST00000497881ENST00000355930TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
intron-5UTRENST00000497881ENST00000429426TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
intron-5UTRENST00000497881ENST00000475957TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-
intron-intronENST00000497881ENST00000380321TMPRSS2chr21

42851099

-MLLT3chr9

20620833

-

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FusionProtFeatures for TMPRSS2_MLLT3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMPRSS2

O15393

MLLT3

P42568

Serine protease that proteolytically cleaves andactivates the viral spike glycoproteins which facilitate virus-cell membrane fusions; spike proteins are synthesized andmaintained in precursor intermediate folding states andproteolysis permits the refolding and energy release required tocreate stable virus-cell linkages and membrane coalescence.Facilitates human SARS coronavirus (SARS-CoV) infection via twoindependent mechanisms, proteolytic cleavage of ACE2, which mightpromote viral uptake, and cleavage of coronavirus spikeglycoprotein which activates the glycoprotein for cathepsin L-independent host cell entry. Proteolytically cleaves and activatesthe spike glycoproteins of human coronavirus 229E (HCoV-229E) andhuman coronavirus EMC (HCoV-EMC) and the fusion glycoproteins F0of Sendai virus (SeV), human metapneumovirus (HMPV), humanparainfluenza 1, 2, 3, 4a and 4b viruses (HPIV). Essential forspread and pathogenesis of influenza A virus (strains H1N1, H3N2and H7N9); involved in proteolytic cleavage and activation ofhemagglutinin (HA) protein which is essential for viralinfectivity. {ECO:0000269|PubMed:21068237,ECO:0000269|PubMed:21325420, ECO:0000269|PubMed:23536651,ECO:0000269|PubMed:23966399, ECO:0000269|PubMed:24027332,ECO:0000269|PubMed:24227843}. Chromatin reader component of the super elongationcomplex (SEC), a complex required to increase the catalytic rateof RNA polymerase II transcription by suppressing transientpausing by the polymerase at multiple sites along the DNA(PubMed:20159561, PubMed:20471948, PubMed:25417107,PubMed:27105114, PubMed:27545619). Specifically recognizes andbinds acylated histone H3, with a marked preference for histone H3that is crotonylated (PubMed:25417107, PubMed:27105114,PubMed:27545619). Crotonylation marks active promoters andenhancers and confers resistance to transcriptional repressors(PubMed:25417107, PubMed:27105114, PubMed:27545619). Recognizesand binds histone H3 crotonylated at 'Lys-9' (H3K9cr), and withslightly lower affinity histone H3 crotonylated at 'Lys-18'(H3K18cr) (PubMed:27105114). Also recognizes and binds histone H3acetylated at 'Lys-9' (H3K9ac), but with lower affinity thancrotonylated histone H3 (PubMed:25417107, PubMed:27105114). In theSEC complex, MLLT3 is required to recruit the complex tocrotonylated histones (PubMed:27105114, PubMed:27545619).{ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948,ECO:0000269|PubMed:25417107, ECO:0000269|PubMed:27105114,ECO:0000269|PubMed:27545619}.

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 TMPRSS2_MLLT3


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 TMPRSS2_MLLT3


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
TMPRSS2CLK1MLLT3APPBP2, MCM6, BCOR, RBM48, EEF1A1, PTN, LRIF1, DOT1L, SGK1, AFF4, AFF1, CDK9, AFF3, ACACA, SIRT1, CCNT1, NIPBL, EAF1, ELL3, PCGF1, MLLT1, EEF2, ELL, MLLT10, CCNT2, RNF2, KMT2A, CHD4, ELL2, PAF1, APP, CDK6, MED26, HSP90B1, EXOSC3, FAM9A, EDA, DENND2D, EPB41L3, XPO1, H3F3A, PIP4K2A, EPB41L2, CAMKV, MLLT6, SNX24, BPIFB1, MDK, PES1, EPB41L5, ARRB2


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 TMPRSS2_MLLT3


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 TMPRSS2_MLLT3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTMPRSS2C0033578Prostatic Neoplasms2CTD_human
TgeneMLLT3C0005586Bipolar Disorder1PSYGENET