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Fusion gene ID: 27807 |
FusionGeneSummary for PMPCB_WWOX |
Fusion gene summary |
Fusion gene information | Fusion gene name: PMPCB_WWOX | Fusion gene ID: 27807 | Hgene | Tgene | Gene symbol | PMPCB | WWOX | Gene ID | 9512 | 51741 |
Gene name | peptidase, mitochondrial processing beta subunit | WW domain containing oxidoreductase | |
Synonyms | Beta-MPP|MPP11|MPPB|MPPP52|P-52 | D16S432E|EIEE28|FOR|FRA16D|HHCMA56|PRO0128|SCAR12|SDR41C1|WOX1 | |
Cytomap | 7q22.1 | 16q23.1-q23.2 | |
Type of gene | protein-coding | protein-coding | |
Description | mitochondrial-processing peptidase subunit betamitochondrial processing peptidase beta subunitpeptidase (mitochondrial processing) beta | WW domain-containing oxidoreductaseWW domain-containing protein WWOXfragile site FRA16D oxidoreductaseshort chain dehydrogenase/reductase family 41C member 1 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | O75439 | Q9NZC7 | |
Ensembl transtripts involved in fusion gene | ENST00000249269, ENST00000428154, ENST00000420236, | ENST00000566780, ENST00000406884, ENST00000539474, ENST00000402655, ENST00000408984, ENST00000355860, ENST00000565791, ENST00000569818, | |
Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 14 X 7 X 7=686 |
# samples | 4 | 16 | |
** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/686*10)=-2.10013667128545 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: PMPCB [Title/Abstract] AND WWOX [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | WWOX | GO:0030178 | negative regulation of Wnt signaling pathway | 19465938 |
Tgene | WWOX | GO:0071560 | cellular response to transforming growth factor beta stimulus | 19366691 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | STAD | TCGA-VQ-A928-01A | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000249269 | ENST00000566780 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
Frame-shift | ENST00000249269 | ENST00000406884 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
In-frame | ENST00000249269 | ENST00000539474 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
Frame-shift | ENST00000249269 | ENST00000402655 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
5CDS-intron | ENST00000249269 | ENST00000408984 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
5CDS-intron | ENST00000249269 | ENST00000355860 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
5CDS-intron | ENST00000249269 | ENST00000565791 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
5CDS-intron | ENST00000249269 | ENST00000569818 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
Frame-shift | ENST00000428154 | ENST00000566780 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
Frame-shift | ENST00000428154 | ENST00000406884 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
In-frame | ENST00000428154 | ENST00000539474 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
Frame-shift | ENST00000428154 | ENST00000402655 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
5CDS-intron | ENST00000428154 | ENST00000408984 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
5CDS-intron | ENST00000428154 | ENST00000355860 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
5CDS-intron | ENST00000428154 | ENST00000565791 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
5CDS-intron | ENST00000428154 | ENST00000569818 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
5UTR-3CDS | ENST00000420236 | ENST00000566780 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
5UTR-3CDS | ENST00000420236 | ENST00000406884 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
5UTR-3CDS | ENST00000420236 | ENST00000539474 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
5UTR-3CDS | ENST00000420236 | ENST00000402655 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
5UTR-intron | ENST00000420236 | ENST00000408984 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
5UTR-intron | ENST00000420236 | ENST00000355860 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
5UTR-intron | ENST00000420236 | ENST00000565791 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
5UTR-intron | ENST00000420236 | ENST00000569818 | PMPCB | chr7 | 102939155 | + | WWOX | chr16 | 79245505 | + |
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FusionProtFeatures for PMPCB_WWOX |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
PMPCB | WWOX |
Cleaves presequences (transit peptides) frommitochondrial protein precursors. {ECO:0000250}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and 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 |
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FusionGeneSequence for PMPCB_WWOX |
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_PMPCB_ENST00000249269_chr7_102939155_+_WWOX_ENST00000539474_chr16_79245505_+_132aa MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTQQGAATTVYC >In-frame_PMPCB_ENST00000428154_chr7_102939155_+_WWOX_ENST00000539474_chr16_79245505_+_132aa MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTQQGAATTVYC |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_PMPCB_ENST00000249269_chr7_102939155_+_WWOX_ENST00000539474_chr16_79245505_+_397nt ATGGCGGCTGCGGCGGCTCGAGTGGTGTTGTCATCCGCGGCGCGGCGGCGGCTCTGGGGTTTCAGCGAGAGTCTTCTAATCCGAGGCGCT GCGGGACGGTCATTATATTTTGGAGAGAACAGATTAAGAAGTACACAGGCTGCTACCCAAGTTGTTCTGAATGTTCCTGAAACAAGAGTA ACATGTTTAGAAAGTGGACTCAGAGTAGCTTCGGAAGACTCTGGGCTCTCAACATGCACACAACAGGGAGCTGCCACCACCGTGTACTGT GCTGCTGTCCCAGAACTGGAGGGTCTGGGAGGGATGTACTTCAACAACTGCTGCCGCTGCATGCCCTCACCAGAAGCTCAGAGCGAAGAG >In-frame_PMPCB_ENST00000428154_chr7_102939155_+_WWOX_ENST00000539474_chr16_79245505_+_397nt ATGGCGGCTGCGGCGGCTCGAGTGGTGTTGTCATCCGCGGCGCGGCGGCGGCTCTGGGGTTTCAGCGAGAGTCTTCTAATCCGAGGCGCT GCGGGACGGTCATTATATTTTGGAGAGAACAGATTAAGAAGTACACAGGCTGCTACCCAAGTTGTTCTGAATGTTCCTGAAACAAGAGTA ACATGTTTAGAAAGTGGACTCAGAGTAGCTTCGGAAGACTCTGGGCTCTCAACATGCACACAACAGGGAGCTGCCACCACCGTGTACTGT GCTGCTGTCCCAGAACTGGAGGGTCTGGGAGGGATGTACTTCAACAACTGCTGCCGCTGCATGCCCTCACCAGAAGCTCAGAGCGAAGAG |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_PMPCB_ENST00000249269_chr7_102939155_+_WWOX_ENST00000539474_chr16_79245505_+_1338nt AAGCACATCCTTCATCCTCTACCTTCCTTCTAGCAGAAATGGCGGCTGCGGCGGCTCGAGTGGTGTTGTCATCCGCGGCGCGGCGGCGGC TCTGGGGTTTCAGCGAGAGTCTTCTAATCCGAGGCGCTGCGGGACGGTCATTATATTTTGGAGAGAACAGATTAAGAAGTACACAGGCTG CTACCCAAGTTGTTCTGAATGTTCCTGAAACAAGAGTAACATGTTTAGAAAGTGGACTCAGAGTAGCTTCGGAAGACTCTGGGCTCTCAA CATGCACACAACAGGGAGCTGCCACCACCGTGTACTGTGCTGCTGTCCCAGAACTGGAGGGTCTGGGAGGGATGTACTTCAACAACTGCT GCCGCTGCATGCCCTCACCAGAAGCTCAGAGCGAAGAGACGGCCCGGACCCTGTGGGCGCTCAGCGAGAGGCTGATCCAAGAACGGCTTG GCAGCCAGTCCGGCTAAGTGGAGCTCAGAGCGGATGGGCACACACACCCGCCCTGTGTGTGTCCCCTCACGCAAGTGCCAGGGCTGGGCC CCTTCCAAATGTCCCTCCAACACAGATCCGCAAGAGTAAAGGAAATAAGAGCAGTCACAACAGAGTGAAAAATCTTAAGTACCAATGGGA AGCAGGGAATTCCTGGGGTAAAGTATCACTTTTCTGGGGCTGGGCTAGGCATAGGTCTCTTTGCTTTCTGGTGGTGGCCTGTTTGAAAGT AAAAACCTGCTTGGTGTGTAGGTTCCGTATCTCCCTGGAGAAGCACCAGCAATTCTCTTTCTTTTACTGTTATAGAATAGCCTGAGGTCC CCTCGTCCCATCCAGCTACCACCACGGCCACCACTGCAGCCGGGGGCTGGCCTTCTCCTACTTAGGGAAGAAAAAGCAAGTGTTCACTGC TCCTTGCTGCATTGATCCAGGAGATAATTGTTTCATTCATCCTGACCAAGACTGAGCCAGCTTAGCAACTGCTGGGGAGACAAATCTCAG AACCTTGTCCCAGCCAGTGAGGATGACAGTGACACCCAGAGGGAGTAGAATACGCAGAACTACCAGGTGGCAAAGTACTTGTCATAGACT CCTTTGCTAATGCTATGCAAAAAATTCTTTAGAGATTATAACAAATTTTTCAAATCATTCCTTAGATACCTTGAAAGGCAGGAAGGGAAG CGTATATACTTAAGAATACACAGGATATTTTGGGGGGCAGAGAATAAAACGTTAGTTAATCCCTTTGTCTGTCAATCACAGTCTCAGTTC >In-frame_PMPCB_ENST00000428154_chr7_102939155_+_WWOX_ENST00000539474_chr16_79245505_+_1325nt ATCCTCTACCTTCCTTCTAGCAGAAATGGCGGCTGCGGCGGCTCGAGTGGTGTTGTCATCCGCGGCGCGGCGGCGGCTCTGGGGTTTCAG CGAGAGTCTTCTAATCCGAGGCGCTGCGGGACGGTCATTATATTTTGGAGAGAACAGATTAAGAAGTACACAGGCTGCTACCCAAGTTGT TCTGAATGTTCCTGAAACAAGAGTAACATGTTTAGAAAGTGGACTCAGAGTAGCTTCGGAAGACTCTGGGCTCTCAACATGCACACAACA GGGAGCTGCCACCACCGTGTACTGTGCTGCTGTCCCAGAACTGGAGGGTCTGGGAGGGATGTACTTCAACAACTGCTGCCGCTGCATGCC CTCACCAGAAGCTCAGAGCGAAGAGACGGCCCGGACCCTGTGGGCGCTCAGCGAGAGGCTGATCCAAGAACGGCTTGGCAGCCAGTCCGG CTAAGTGGAGCTCAGAGCGGATGGGCACACACACCCGCCCTGTGTGTGTCCCCTCACGCAAGTGCCAGGGCTGGGCCCCTTCCAAATGTC CCTCCAACACAGATCCGCAAGAGTAAAGGAAATAAGAGCAGTCACAACAGAGTGAAAAATCTTAAGTACCAATGGGAAGCAGGGAATTCC TGGGGTAAAGTATCACTTTTCTGGGGCTGGGCTAGGCATAGGTCTCTTTGCTTTCTGGTGGTGGCCTGTTTGAAAGTAAAAACCTGCTTG GTGTGTAGGTTCCGTATCTCCCTGGAGAAGCACCAGCAATTCTCTTTCTTTTACTGTTATAGAATAGCCTGAGGTCCCCTCGTCCCATCC AGCTACCACCACGGCCACCACTGCAGCCGGGGGCTGGCCTTCTCCTACTTAGGGAAGAAAAAGCAAGTGTTCACTGCTCCTTGCTGCATT GATCCAGGAGATAATTGTTTCATTCATCCTGACCAAGACTGAGCCAGCTTAGCAACTGCTGGGGAGACAAATCTCAGAACCTTGTCCCAG CCAGTGAGGATGACAGTGACACCCAGAGGGAGTAGAATACGCAGAACTACCAGGTGGCAAAGTACTTGTCATAGACTCCTTTGCTAATGC TATGCAAAAAATTCTTTAGAGATTATAACAAATTTTTCAAATCATTCCTTAGATACCTTGAAAGGCAGGAAGGGAAGCGTATATACTTAA GAATACACAGGATATTTTGGGGGGCAGAGAATAAAACGTTAGTTAATCCCTTTGTCTGTCAATCACAGTCTCAGTTCTCTTGCTTTCACA |
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FusionGenePPI for PMPCB_WWOX |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PMPCB | MARK3, FXN, ICT1, WTAP, RPA2, HN1, ENO1, SHMT2, MOV10, NXF1, MAGIX, SMEK1, SMEK2, PPP4R1, AMY1C, RNMTL1, CDRT15, PMPCA, PNPT1, PRDX5, CEP290, NIN, SPATA20, NIT1, COQ10A, CISD3, PPM1K, ADCK4, CHCHD2, C2orf47, ATP5A1, BOLA1, NME4, COQ6, OCIAD1, COQ9, C15orf48, ADCK3, NDUFS3, LYRM4, CECR5, WBSCR16, PAK7, OXCT2, IVD, ADCK2, SPRYD4, DHRS4, COQ5, PHYHIPL, PTPMT1, TRUB2, ACP6, TAMM41, NDUFAF4, LACE1, C17orf89, ADCK1, C7orf55, ADCK5, MCCC2, COQ7, LYRM2, NFATC2, PDP1, SBF2, C4orf26, SPINK2, NPPA, CCDC69, SOST, DEFB1, PTPN7, TRIM25 | WWOX | TP53, CPSF6, TNK2, ERBB4, MDM2, TP63, MAPK8, LMNA, POLR2A, POLR2B, SMARCC1, TCERG1, CPSF1, CPSF2, CPSF3, NUDT21, FIP1L1, CPSF7, HNRNPK, RPRD2, PABPC1, SF3A1, SF3B1, SF3B3, SFPQ, SYMPK, WIPF2, WDR33, WBP2, SF3B2, KHSRP, CSTF3, HSPA4, DHX15, KRT4, MIA3, OTUD7B, PRPF8, ACIN1, PATL1, P4HA1, DSP, ANXA1, HSPA1A, PRRC2A, SERPINB3, COIL, PGD, DIAPH3, CSNK2A1, SNRNP200, DAZAP1, RPRD1B, HSPA8, ENAH, PABPC4, IGF2BP1, HSD17B10, HDLBP, DVL2, SF3A3, CCT2, SNRPD2, SMARCA4, CDC5L, YWHAZ, UBAP2, CANX, SNRPD1, JUP, RARA, PRMT5, U2SURP, TGM3, TDRD3, PKLR, NOLC1, YLPM1, WASL, CSTF2, MATR3, TOE1, BCL9, CRNN, HIST2H2AA3, DVL3, P3H1, PRPF3, CSNK2A2, SCAF4, DSG3, RBMX, CYFIP1, USP6NL, DDX6, XRN2, IVL, XAB2, AMOTL1, MPDZ, DDX3Y, HNRNPUL1, DHX9, POLR2E, FBRS, WDR77, SEC23A, ZMAT5, DGCR14, LZTS2, NOSIP, DCAF7, GEMIN5, PRPF40A, EIF4A3, INPPL1, LSM4, DDX17, IGF2BP3, RC3H1, MPP5, POLR2C, FARSA, HNRNPH3, DHX30, RPRD1A, ZG16B, NONO, PREB, PABPC3, LONP2, ATN1, GABARAPL2, HNRNPR, HNRNPCL1, CYFIP2, ELAVL1, ITCH, DRG1, SNRPD3, RPAP3, DROSHA, HNRNPU, SMN2, CAD, CCT7, PTPN14, PPP1CA, HNRNPA3, DDX39B, SCGB2A1, KRT75, DDX21, SPG20, CSDE1, HNRNPF, SRSF10, SEC23IP, ATP2A1, DIAPH1, LCN1, DOCK7, CXorf57, SF3A2, HSPB1, TARDBP, SF3B6, A2ML1, AMOT, THOC6, KIF2A, LUC7L3, MYH7, MYH1, MYH4, MYH16, DDX1, ENO1, TP73, CCT6A, SMARCE1, ANXA2, ACLY, SCAF8, ALDH3A1, PPIB, EDC4, RPL6, USP39, EIF3A, H2AFZ, RPL30, KDM3B, FUS, SERPINB5, DVL1, RAPGEF2, DHX36, HN1L, POLR2G, BAIAP2, WDR91, DCTPP1, IQSEC1, PRDX5, LZTS3, RPS15AP21, SRSF3, ZNF598, LACRT, IGF2BP2, PAICS, KIAA1522, SLC4A1AP, ATXN2, THRAP3, RBM39, CAPZA1, SEC24C, NOP56, SRPK1, DKC1, IK, HADHA, OGT, PRPF31, DIDO1, ATAD3A, PDCD7, HUWE1, ATM, TRIM28, HIF1A, LATS1, FAM189B, TMEM171, FAM189A2, WBP1, TMEM92, LDLRAD4, CLNK, BTRC, NUP133, CDH1, FKBP15, SERPINA5, ARRDC3, NME2, GORASP1, ZBTB33, LYZ, TRIM25, BRCA1 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PMPCB_WWOX |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PMPCB_WWOX |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | WWOX | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Tgene | WWOX | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Tgene | WWOX | C0042076 | Urologic Neoplasms | 1 | CTD_human |
Tgene | WWOX | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Tgene | WWOX | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | WWOX | C3280452 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 | 1 | ORPHANET;UNIPROT |
Tgene | WWOX | C3495559 | Juvenile arthritis | 1 | CTD_human |
Tgene | WWOX | C4015519 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 | 1 | UNIPROT |