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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:TMPRSS2-PHF12

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: TMPRSS2-PHF12
FusionPDB ID: 92399
FusionGDB2.0 ID: 92399
HgeneTgene
Gene symbol

TMPRSS2

PHF12

Gene ID

7113

57649

Gene nametransmembrane serine protease 2PHD finger protein 12
SynonymsPP9284|PRSS10PF1
Cytomap

21q22.3

17q11.2

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protease serine 2epitheliasinserine protease 10transmembrane protease, serine 2PHD finger protein 12PHD factor 1PHD zinc finger transcription factor
Modification date2020031320200313
UniProtAcc

O15393

.
Ensembl transtripts involved in fusion geneENST idsENST00000332149, ENST00000398585, 
ENST00000458356, ENST00000497881, 
ENST00000577226, ENST00000268756, 
ENST00000582655, ENST00000332830, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score40 X 73 X 10=2920010 X 9 X 6=540
# samples 13014
** MAII scorelog2(130/29200*10)=-4.48938484073892
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/540*10)=-1.94753258010586
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: TMPRSS2 [Title/Abstract] AND PHF12 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)TMPRSS2(42860321)-PHF12(27235899), # samples:3
Anticipated loss of major functional domain due to fusion event.TMPRSS2-PHF12 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
TMPRSS2-PHF12 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
TMPRSS2-PHF12 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
TMPRSS2-PHF12 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
TMPRSS2-PHF12 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
TMPRSS2-PHF12 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
TMPRSS2-PHF12 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
TMPRSS2-PHF12 seems lost the major protein functional domain in Tgene 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
HgeneTMPRSS2

GO:0006508

proteolysis

21068237|24227843

HgeneTMPRSS2

GO:0046598

positive regulation of viral entry into host cell

21068237|24227843

TgenePHF12

GO:0000122

negative regulation of transcription by RNA polymerase II

22048773

TgenePHF12

GO:0045892

negative regulation of transcription, DNA-templated

11390640


check buttonFusion gene breakpoints across TMPRSS2 (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 PHF12 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4LIHCTCGA-G3-AAUZ-01ATMPRSS2chr21

42860321

-PHF12chr17

27235899

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000332149TMPRSS2chr2142860321-ENST00000332830PHF12chr1727235899-21695801351235366
ENST00000398585TMPRSS2chr2142860321-ENST00000332830PHF12chr1727235899-2206617401272410

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
ENST00000332149ENST00000332830TMPRSS2chr2142860321-PHF12chr1727235899-0.0007292670.99927074
ENST00000398585ENST00000332830TMPRSS2chr2142860321-PHF12chr1727235899-0.0010955510.99890447

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>92399_92399_1_TMPRSS2-PHF12_TMPRSS2_chr21_42860321_ENST00000332149_PHF12_chr17_27235899_ENST00000332830_length(amino acids)=366AA_BP=148
MALNSGSPPAIGPYYENHGYQPENPYPAQPTVVPTVYEVHPAQYYPSPVPQYAPRVLTQASNPVVCTQPKSPSGTVCTSKTKKALCITLT
LGTFLVGAALAAGLLWKFMGSKCSNSGIECDSSGTCINPSNWCDGVSHCPGGEDENRCVQRKEVQARAVFYPLLGLGGAVNMCYRTLYIG
TGADMDVCLTNYGHCNYVSGKHACIFYDENTKHYELLNYSEHGTTVDNVLYSCDFSEKTPPTPPSSIVAKVQSVIRRRRHQKQDEEPSEE
AAMMSSQAQGPQRRPCNCKASSSSLIGGSGAGWEGTALLHHGSYIKLGCLQFVFSITEFATKQPKGDASLLQDGVLAEKLSLKPHQGPVL

--------------------------------------------------------------

>92399_92399_2_TMPRSS2-PHF12_TMPRSS2_chr21_42860321_ENST00000398585_PHF12_chr17_27235899_ENST00000332830_length(amino acids)=410AA_BP=192
MGAWDPPMPPAPPGGESGCEERGAAGHIEHSRYLSLLDAVDNSKMALNSGSPPAIGPYYENHGYQPENPYPAQPTVVPTVYEVHPAQYYP
SPVPQYAPRVLTQASNPVVCTQPKSPSGTVCTSKTKKALCITLTLGTFLVGAALAAGLLWKFMGSKCSNSGIECDSSGTCINPSNWCDGV
SHCPGGEDENRCVQRKEVQARAVFYPLLGLGGAVNMCYRTLYIGTGADMDVCLTNYGHCNYVSGKHACIFYDENTKHYELLNYSEHGTTV
DNVLYSCDFSEKTPPTPPSSIVAKVQSVIRRRRHQKQDEEPSEEAAMMSSQAQGPQRRPCNCKASSSSLIGGSGAGWEGTALLHHGSYIK

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Fusion Protein Functional Features


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/chr21:42860321/chr17:27235899)
- 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
TMPRSS2

O15393

.
FUNCTION: Plasma membrane-anchored serine protease that participates in proteolytic cascades of relevance for the normal physiologic function of the prostate (PubMed:25122198). Androgen-induced TMPRSS2 activates several substrates that include pro-hepatocyte growth factor/HGF, the protease activated receptor-2/F2RL1 or matriptase/ST14 leading to extracellular matrix disruption and metastasis of prostate cancer cells (PubMed:15537383, PubMed:26018085, PubMed:25122198). In addition, activates trigeminal neurons and contribute to both spontaneous pain and mechanical allodynia (By similarity). {ECO:0000250|UniProtKB:Q9JIQ8, ECO:0000269|PubMed:15537383, ECO:0000269|PubMed:25122198, ECO:0000269|PubMed:26018085}.; FUNCTION: (Microbial infection) Facilitates human coronaviruses SARS-CoV and SARS-CoV-2 infections via two independent mechanisms, proteolytic cleavage of ACE2 receptor which promotes viral uptake, and cleavage of coronavirus spike glycoproteins which activates the glycoprotein for host cell entry (PubMed:24227843, PubMed:32142651, PubMed:32404436, PubMed:34159616, PubMed:33051876). Upon SARS-CoV-2 infection, increases syncytia formation by accelerating the fusion process (PubMed:34159616, PubMed:33051876). Proteolytically cleaves and activates the spike glycoproteins of human coronavirus 229E (HCoV-229E) and human coronavirus EMC (HCoV-EMC) and the fusion glycoproteins F0 of Sendai virus (SeV), human metapneumovirus (HMPV), human parainfluenza 1, 2, 3, 4a and 4b viruses (HPIV). Essential for spread and pathogenesis of influenza A virus (strains H1N1, H3N2 and H7N9); involved in proteolytic cleavage and activation of hemagglutinin (HA) protein which is essential for viral infectivity. {ECO:0000269|PubMed:21068237, ECO:0000269|PubMed:21325420, ECO:0000269|PubMed:23536651, ECO:0000269|PubMed:23966399, ECO:0000269|PubMed:24027332, ECO:0000269|PubMed:24227843, ECO:0000269|PubMed:32142651, ECO:0000269|PubMed:32404436, ECO:0000269|PubMed:33051876, ECO:0000269|PubMed:34159616}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000332149-514112_149148.33333333333334493.0DomainLDL-receptor class A
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000398585-514112_149185.33333333333334530.0DomainLDL-receptor class A
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000458356-514112_149148.33333333333334493.0DomainLDL-receptor class A
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000332149-5141_84148.33333333333334493.0Topological domainCytoplasmic
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000398585-5141_84185.33333333333334530.0Topological domainCytoplasmic
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000458356-5141_84148.33333333333334493.0Topological domainCytoplasmic
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000332149-51485_105148.33333333333334493.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000398585-51485_105185.33333333333334530.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000458356-51485_105148.33333333333334493.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgenePHF12chr21:42860321chr17:27235899ENST0000026875609894_8970705.0Compositional biasPoly-Arg
TgenePHF12chr21:42860321chr17:27235899ENST0000026875609929_9320705.0Compositional biasPoly-Ser
TgenePHF12chr21:42860321chr17:27235899ENST000003328301015894_897786.33333333333341005.0Compositional biasPoly-Arg
TgenePHF12chr21:42860321chr17:27235899ENST000003328301015929_932786.33333333333341005.0Compositional biasPoly-Ser
TgenePHF12chr21:42860321chr17:27235899ENST0000026875609815_8690705.0DomainFHA
TgenePHF12chr21:42860321chr17:27235899ENST000003328301015815_869786.33333333333341005.0DomainFHA
TgenePHF12chr21:42860321chr17:27235899ENST0000026875609105_1280705.0RegionNote=PBR
TgenePHF12chr21:42860321chr17:27235899ENST0000026875609271_3210705.0Zinc fingerPHD-type 2%3B atypical
TgenePHF12chr21:42860321chr17:27235899ENST000002687560956_1050705.0Zinc fingerPHD-type 1

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000332149-514150_242148.33333333333334493.0DomainSRCR
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000332149-514256_489148.33333333333334493.0DomainPeptidase S1
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000398585-514150_242185.33333333333334530.0DomainSRCR
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000398585-514256_489185.33333333333334530.0DomainPeptidase S1
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000458356-514150_242148.33333333333334493.0DomainSRCR
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000458356-514256_489148.33333333333334493.0DomainPeptidase S1
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000332149-514106_492148.33333333333334493.0Topological domainExtracellular
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000398585-514106_492185.33333333333334530.0Topological domainExtracellular
HgeneTMPRSS2chr21:42860321chr17:27235899ENST00000458356-514106_492148.33333333333334493.0Topological domainExtracellular
TgenePHF12chr21:42860321chr17:27235899ENST000003328301015105_128786.33333333333341005.0RegionNote=PBR
TgenePHF12chr21:42860321chr17:27235899ENST000003328301015271_321786.33333333333341005.0Zinc fingerPHD-type 2%3B atypical
TgenePHF12chr21:42860321chr17:27235899ENST00000332830101556_105786.33333333333341005.0Zinc fingerPHD-type 1


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
TMPRSS2CLK1, HNRNPL, DCAF4, S, ACE2, STX7, SCD, PLP2, PLLP, MOSPD3, UPK2, SELK, C3orf52, IGFBP5, SEC22A, PLP1, CLN6, TMEM128, C14orf1, CFHR5, TMEM243, TMEM60, CXCL9, BNIP2, CNIH3, PGAP2, TMEM218, TMEM86A, CMTM7, ZFPL1, BMP10, TMEM79, SLC35A1, SFTPC, VAMP5, FAXDC2, STX8, NINJ2, CLEC7A, C2CD2L, CNIH2, BNIP3, DEFB103A, DEFB103B, TMEM11, C17orf62, TMEM86B, ADIPOQ, EDDM3B, BRICD5, PTTG1IP, PTCH1, ANKRD46, TMEM222, C1QL4, TMEM120B, FAM3C, TMEM229B, PLN, CTXN3, TNF, SMIM1, AQP1, TMPRSS2, DNASE2, MYO1C, PGRMC1, NDUFA4, ADAM10, CLGN, SEC16A, SPINT2, COCH, B4GAT1, XPOT, MYO1B, LANCL1, CALU, PLXNA2, GPC4, BANF1, CPD, CLPX, STC2, SLIT2, MYO1D, ERLIN2, BAG2, TFRC, HLA-A, TP53, RPN1, RPN2, GNAI2, APP, ITGB1, INSR, GLA, GPI, ITGAV, CTSD, APRT, IGF1R, MET, GNAI3, CLTA, CALM2, HLA-C, DLAT, HSPA5, LAMC1, LAMP1, IGF2R, PDIA4, P4HA1, HSP90B1, PVR, RPA2, ATP2A2, PFKL, CDH2, MSH3, RPA1, CALR, RPA3, LONP1, TGFBR1, DDOST, HADHA, ECE1, DNM2, FXR2, PLXNA3, ATP1B3, HADHB, SEC61A1, GNB1, NOMO3, PRKDC, TFAM, SLC7A5, PFKP, KIF23, FMR1, PTK7, ADAM15, CUL2, SCARB2, WRN, DSC3, ITIH4, GANAB, KARS, RCN1, SAFB, IMMT, HSD17B12, UBR4, QSOX2, RRM2B, MON2, YTHDF3, PABPN1, PLD3, PELP1, TTC13, CNNM3, IPO4, FAR1, GGH, ERLEC1, RBM33, DNAJA3, RBM14, PPP1R9B, SDF2, NEU1, GRWD1, AIF1L, NTPCR, FUCA2, EDEM3, RACGAP1, RAB18, TMEM106B, CHPF2, GNG12, DNAJB11, EGFL7, DDX20, ADAMTS1, LNPEP, ITM2B, MRPL11, HYOU1, AFG3L2, YTHDF2, SUPT16H, PDHX, IPO5, SAP18, HGS, SPTBN2, PLXNB2, ARPC3, ACTN4, TRIM13, PDCD6, MPDU1, SEC22B, ATP6AP2, STAM2, ARL6IP5, UFL1, SEC31A, STBD1, SMC2, SEC24A, SEC24B, ACSL3, CDK1, SRPR, SPTB, MTHFD1, ACTN1, ETFA, RAB6A, VDAC1, HMOX2, MYH10, DEK, ATP5C1, NAMPT, VDAC2, QARS, TUFM, SERPINH1, BCAP31, PSMD7, CLCN7, SLC25A1, YARS, EPPK1, RAB10, ABCE1, RHOA, CNBP, TPM4, SLC25A11, LMNB2, CKAP4, GOLGA3, TWF1, TRAP1, STX5, DDX39B, RAB3GAP1, PON2, PPA1, SEC23A, SEC23B, NDUFA9, ATP6V1F, INF2, ANO6, ACTBL2, MIA3, CDKAL1, KIAA0368, C19orf70, SLC25A24, HUWE1, MEGF8, KTN1, COMTD1, ANKLE2, VRK2, ZDHHC17, DNAH10, NUP93, MMGT1, TMEM199, ATPAF2, EMC1, PDZD8, NBEA, MOSPD2, PDCD6IP, SYNE2, UBXN4, CCDC47, LRRC59, C7orf55, DDRGK1, NGLY1, CDK5RAP3, CCDC115, CLCC1, OSBPL9, RBM15, CGRRF1, ESYT1, NDC1, EFHD1, OSBPL8, KIAA1715, LSG1, RAB1B, TMX1, GORASP2, SFXN1, XPO5, VEZT, JPH1, BIRC6, AAAS, TOMM22, DDX19A, SMPD4, TMOD3, EMC3, VAPA, CEP72, LARS, DPM3, DHCR7, UBA2, AASS, ATP6V1H, SLC25A13, STOML2, RAB21, MYO6, VDAC3, AUP1, SEC23IP,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
TMPRSS2all structure
PHF12


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgenePHF12chr21:42860321chr17:27235899ENST000003328301015102_273786.33333333333341005.0SIN3A
TgenePHF12chr21:42860321chr17:27235899ENST000003328301015300_704786.33333333333341005.0SIN3A


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Related Drugs to TMPRSS2-PHF12


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to TMPRSS2-PHF12


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTMPRSS2C0033578Prostatic Neoplasms4CTD_human
HgeneTMPRSS2C0376358Malignant neoplasm of prostate4CTD_human