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Fusion Protein:TMPRSS2-PHF12 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: TMPRSS2-PHF12 | FusionPDB ID: 92399 | FusionGDB2.0 ID: 92399 | Hgene | Tgene | Gene symbol | TMPRSS2 | PHF12 | Gene ID | 7113 | 57649 |
Gene name | transmembrane serine protease 2 | PHD finger protein 12 | |
Synonyms | PP9284|PRSS10 | PF1 | |
Cytomap | 21q22.3 | 17q11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | transmembrane protease serine 2epitheliasinserine protease 10transmembrane protease, serine 2 | PHD finger protein 12PHD factor 1PHD zinc finger transcription factor | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | O15393 | . | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000332149, ENST00000398585, ENST00000458356, ENST00000497881, | ENST00000577226, ENST00000268756, ENST00000582655, ENST00000332830, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 40 X 73 X 10=29200 | 10 X 9 X 6=540 |
# samples | 130 | 14 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | TMPRSS2 | GO:0006508 | proteolysis | 21068237|24227843 |
Hgene | TMPRSS2 | GO:0046598 | positive regulation of viral entry into host cell | 21068237|24227843 |
Tgene | PHF12 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 22048773 |
Tgene | PHF12 | GO:0045892 | negative regulation of transcription, DNA-templated | 11390640 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | LIHC | TCGA-G3-AAUZ-01A | TMPRSS2 | chr21 | 42860321 | - | PHF12 | chr17 | 27235899 | - |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000332149 | TMPRSS2 | chr21 | 42860321 | - | ENST00000332830 | PHF12 | chr17 | 27235899 | - | 2169 | 580 | 135 | 1235 | 366 |
ENST00000398585 | TMPRSS2 | chr21 | 42860321 | - | ENST00000332830 | PHF12 | chr17 | 27235899 | - | 2206 | 617 | 40 | 1272 | 410 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000332149 | ENST00000332830 | TMPRSS2 | chr21 | 42860321 | - | PHF12 | chr17 | 27235899 | - | 0.000729267 | 0.99927074 |
ENST00000398585 | ENST00000332830 | TMPRSS2 | chr21 | 42860321 | - | PHF12 | chr17 | 27235899 | - | 0.001095551 | 0.99890447 |
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Fusion Amino Acid Sequences |
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>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 |
![]() 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. |
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Hgene | Tgene |
TMPRSS2 | . |
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. |
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- Retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000332149 | - | 5 | 14 | 112_149 | 148.33333333333334 | 493.0 | Domain | LDL-receptor class A |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000398585 | - | 5 | 14 | 112_149 | 185.33333333333334 | 530.0 | Domain | LDL-receptor class A |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000458356 | - | 5 | 14 | 112_149 | 148.33333333333334 | 493.0 | Domain | LDL-receptor class A |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000332149 | - | 5 | 14 | 1_84 | 148.33333333333334 | 493.0 | Topological domain | Cytoplasmic |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000398585 | - | 5 | 14 | 1_84 | 185.33333333333334 | 530.0 | Topological domain | Cytoplasmic |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000458356 | - | 5 | 14 | 1_84 | 148.33333333333334 | 493.0 | Topological domain | Cytoplasmic |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000332149 | - | 5 | 14 | 85_105 | 148.33333333333334 | 493.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000398585 | - | 5 | 14 | 85_105 | 185.33333333333334 | 530.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000458356 | - | 5 | 14 | 85_105 | 148.33333333333334 | 493.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
Tgene | PHF12 | chr21:42860321 | chr17:27235899 | ENST00000268756 | 0 | 9 | 894_897 | 0 | 705.0 | Compositional bias | Poly-Arg | |
Tgene | PHF12 | chr21:42860321 | chr17:27235899 | ENST00000268756 | 0 | 9 | 929_932 | 0 | 705.0 | Compositional bias | Poly-Ser | |
Tgene | PHF12 | chr21:42860321 | chr17:27235899 | ENST00000332830 | 10 | 15 | 894_897 | 786.3333333333334 | 1005.0 | Compositional bias | Poly-Arg | |
Tgene | PHF12 | chr21:42860321 | chr17:27235899 | ENST00000332830 | 10 | 15 | 929_932 | 786.3333333333334 | 1005.0 | Compositional bias | Poly-Ser | |
Tgene | PHF12 | chr21:42860321 | chr17:27235899 | ENST00000268756 | 0 | 9 | 815_869 | 0 | 705.0 | Domain | FHA | |
Tgene | PHF12 | chr21:42860321 | chr17:27235899 | ENST00000332830 | 10 | 15 | 815_869 | 786.3333333333334 | 1005.0 | Domain | FHA | |
Tgene | PHF12 | chr21:42860321 | chr17:27235899 | ENST00000268756 | 0 | 9 | 105_128 | 0 | 705.0 | Region | Note=PBR | |
Tgene | PHF12 | chr21:42860321 | chr17:27235899 | ENST00000268756 | 0 | 9 | 271_321 | 0 | 705.0 | Zinc finger | PHD-type 2%3B atypical | |
Tgene | PHF12 | chr21:42860321 | chr17:27235899 | ENST00000268756 | 0 | 9 | 56_105 | 0 | 705.0 | Zinc finger | PHD-type 1 |
- Not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000332149 | - | 5 | 14 | 150_242 | 148.33333333333334 | 493.0 | Domain | SRCR |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000332149 | - | 5 | 14 | 256_489 | 148.33333333333334 | 493.0 | Domain | Peptidase S1 |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000398585 | - | 5 | 14 | 150_242 | 185.33333333333334 | 530.0 | Domain | SRCR |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000398585 | - | 5 | 14 | 256_489 | 185.33333333333334 | 530.0 | Domain | Peptidase S1 |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000458356 | - | 5 | 14 | 150_242 | 148.33333333333334 | 493.0 | Domain | SRCR |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000458356 | - | 5 | 14 | 256_489 | 148.33333333333334 | 493.0 | Domain | Peptidase S1 |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000332149 | - | 5 | 14 | 106_492 | 148.33333333333334 | 493.0 | Topological domain | Extracellular |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000398585 | - | 5 | 14 | 106_492 | 185.33333333333334 | 530.0 | Topological domain | Extracellular |
Hgene | TMPRSS2 | chr21:42860321 | chr17:27235899 | ENST00000458356 | - | 5 | 14 | 106_492 | 148.33333333333334 | 493.0 | Topological domain | Extracellular |
Tgene | PHF12 | chr21:42860321 | chr17:27235899 | ENST00000332830 | 10 | 15 | 105_128 | 786.3333333333334 | 1005.0 | Region | Note=PBR | |
Tgene | PHF12 | chr21:42860321 | chr17:27235899 | ENST00000332830 | 10 | 15 | 271_321 | 786.3333333333334 | 1005.0 | Zinc finger | PHD-type 2%3B atypical | |
Tgene | PHF12 | chr21:42860321 | chr17:27235899 | ENST00000332830 | 10 | 15 | 56_105 | 786.3333333333334 | 1005.0 | Zinc finger | PHD-type 1 |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
TMPRSS2 | CLK1, 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, |
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Gene | STRING network |
TMPRSS2 | ![]() |
PHF12 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Tgene | PHF12 | chr21:42860321 | chr17:27235899 | ENST00000332830 | 10 | 15 | 102_273 | 786.3333333333334 | 1005.0 | SIN3A | |
Tgene | PHF12 | chr21:42860321 | chr17:27235899 | ENST00000332830 | 10 | 15 | 300_704 | 786.3333333333334 | 1005.0 | SIN3A |
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Related Drugs to TMPRSS2-PHF12 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to TMPRSS2-PHF12 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | TMPRSS2 | C0033578 | Prostatic Neoplasms | 4 | CTD_human |
Hgene | TMPRSS2 | C0376358 | Malignant neoplasm of prostate | 4 | CTD_human |