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Fusion gene ID: 27812 |
FusionGeneSummary for PMS2_AIMP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PMS2_AIMP2 | Fusion gene ID: 27812 | Hgene | Tgene | Gene symbol | PMS2 | AIMP2 | Gene ID | 5395 | 7965 |
| Gene name | PMS1 homolog 2, mismatch repair system component | aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | |
| Synonyms | HNPCC4|MLH4|PMS2CL|PMSL2 | JTV-1|JTV1|P38 | |
| Cytomap | 7p22.1 | 7p22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mismatch repair endonuclease PMS2DNA mismatch repair protein PMS2PMS1 homolog 2, mismatch repair proteinPMS1 protein homolog 2PMS2 postmeiotic segregation increased 2postmeiotic segregation increased 2 nirs variant 6 | aminoacyl tRNA synthase complex-interacting multifunctional protein 2ARS-interacting multi-functional protein 2multisynthase complex auxiliary component p38multisynthetase complex auxiliary component p38protein JTV-1 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P54278 | Q13155 | |
| Ensembl transtripts involved in fusion gene | ENST00000265849, ENST00000441476, ENST00000382321, ENST00000406569, ENST00000469652, | ENST00000223029, ENST00000400479, ENST00000395236, | |
| Fusion gene scores | * DoF score | 3 X 1 X 3=9 | 3 X 3 X 3=27 |
| # samples | 3 | 3 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PMS2 [Title/Abstract] AND AIMP2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 |
| Hgene | PMS2 | GO:0006298 | mismatch repair | 10871409|23709753 |
| 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 | LUAD | TCGA-75-5146-01A | PMS2 | chr7 | 6048628 | - | AIMP2 | chr7 | 6054777 | + |
| * 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 |
| In-frame | ENST00000265849 | ENST00000223029 | PMS2 | chr7 | 6048628 | - | AIMP2 | chr7 | 6054777 | + |
| 5CDS-5UTR | ENST00000265849 | ENST00000400479 | PMS2 | chr7 | 6048628 | - | AIMP2 | chr7 | 6054777 | + |
| 5CDS-intron | ENST00000265849 | ENST00000395236 | PMS2 | chr7 | 6048628 | - | AIMP2 | chr7 | 6054777 | + |
| intron-3CDS | ENST00000441476 | ENST00000223029 | PMS2 | chr7 | 6048628 | - | AIMP2 | chr7 | 6054777 | + |
| intron-5UTR | ENST00000441476 | ENST00000400479 | PMS2 | chr7 | 6048628 | - | AIMP2 | chr7 | 6054777 | + |
| intron-intron | ENST00000441476 | ENST00000395236 | PMS2 | chr7 | 6048628 | - | AIMP2 | chr7 | 6054777 | + |
| In-frame | ENST00000382321 | ENST00000223029 | PMS2 | chr7 | 6048628 | - | AIMP2 | chr7 | 6054777 | + |
| 5CDS-5UTR | ENST00000382321 | ENST00000400479 | PMS2 | chr7 | 6048628 | - | AIMP2 | chr7 | 6054777 | + |
| 5CDS-intron | ENST00000382321 | ENST00000395236 | PMS2 | chr7 | 6048628 | - | AIMP2 | chr7 | 6054777 | + |
| In-frame | ENST00000406569 | ENST00000223029 | PMS2 | chr7 | 6048628 | - | AIMP2 | chr7 | 6054777 | + |
| 5CDS-5UTR | ENST00000406569 | ENST00000400479 | PMS2 | chr7 | 6048628 | - | AIMP2 | chr7 | 6054777 | + |
| 5CDS-intron | ENST00000406569 | ENST00000395236 | PMS2 | chr7 | 6048628 | - | AIMP2 | chr7 | 6054777 | + |
| 5UTR-3CDS | ENST00000469652 | ENST00000223029 | PMS2 | chr7 | 6048628 | - | AIMP2 | chr7 | 6054777 | + |
| 5UTR-5UTR | ENST00000469652 | ENST00000400479 | PMS2 | chr7 | 6048628 | - | AIMP2 | chr7 | 6054777 | + |
| 5UTR-intron | ENST00000469652 | ENST00000395236 | PMS2 | chr7 | 6048628 | - | AIMP2 | chr7 | 6054777 | + |
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FusionProtFeatures for PMS2_AIMP2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PMS2 | AIMP2 |
| Component of the post-replicative DNA mismatch repairsystem (MMR). Heterodimerizes with MLH1 to form MutL alpha. DNArepair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited tothe heteroduplex. Assembly of the MutL-MutS-heteroduplex ternarycomplex in presence of RFC and PCNA is sufficient to activateendonuclease activity of PMS2. It introduces single-strand breaksnear the mismatch and thus generates new entry points for theexonuclease EXO1 to degrade the strand containing the mismatch.DNA methylation would prevent cleavage and therefore assure thatonly the newly mutated DNA strand is going to be corrected. MutLalpha (MLH1-PMS2) interacts physically with the clamp loadersubunits of DNA polymerase III, suggesting that it may play a roleto recruit the DNA polymerase III to the site of the MMR. Alsoimplicated in DNA damage signaling, a process which induces cellcycle arrest and can lead to apoptosis in case of major DNAdamages. {ECO:0000269|PubMed:16873062,ECO:0000269|PubMed:18206974, ECO:0000269|PubMed:23709753}. | Required for assembly and stability of the aminoacyl-tRNA synthase complex (PubMed:19131329). Mediates ubiquitinationand degradation of FUBP1, a transcriptional activator of MYC,leading to MYC down-regulation which is required for aveolar typeII cell differentiation. Blocks MDM2-mediated ubiquitination anddegradation of p53/TP53. Functions as a proapoptotic factor.{ECO:0000269|PubMed:16135753, ECO:0000269|PubMed:19131329}. |
| 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 |
| Tgene | >AIMP2 | chr7:6048628 | chr7:6054777 | ENST00000223029 | + | 0 | 4 | 220_317 | 45 | 321 | Domain | Note=GST C-terminal |
| - 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 PMS2_AIMP2 |
| 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 PMS2_AIMP2 |
| 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 |
| PMS2 | MLH1, EXO1, MSH3, BRCA2, PSD2, UBC, PRKDC, KPNA2, KPNB1, RUVBL1, RUVBL2, FAN1, PPP2CA, AIFM1, PIK3C2A, ATAD3A, MSH2, MSH6, PCNA, RFC2, DDB1, MCM3, SMARCA4, XPO1, COPB1, COPG1, COPG2, PSMC1, PSMC6, PSMD5, PSD3, PSMC3, PSMC2, CYLD, UBR5, NSUN2, BRIP1, MMS19, TOPBP1, CLSPN, SPRTN, NSF, LMNA, PMS2P1, BRCA1, REXO2, HIST1H2BG, ABCA2, FYN, XRCC3, CTR9, PARD6A, ZNRD1 | AIMP2 | KARS, DARS, LMO3, FHL3, EPS8, LNX1, C19orf57, AIMP2, CEP170P1, PARK2, RARS, IARS, DARS2, QARS, TP53, STUB1, HSPA4, DEAF1, KDR, KLC2, PSME1, KIAA1377, MATR3, BLOC1S4, ZC3H12A, DSN1, PPP2R1A, CHD3, MCF2L, TRMT2A, ACTB, ICE1, FGB, LUC7L2, TERF2IP, TRAF2, BIRC2, APP, EPRS, AIMP1, LARS, MARS, EEF1E1, UBA1, FN1, BAG3, NGFRAP1, FUBP1, TANK, EIF4G1, CCAR2, RPL27A, HNRNPA1, IQGAP1, PSMC6, PTBP1, BYSL, GYS1, LMO2, PCMT1, PRKAA2, BCAS2, TFIP11, MIS18A, NECAB2, PLEKHF2, NDEL1, ZGPAT, SDCBP, ATP6V1D, CIAPIN1, PUF60, ATP6V1E1, PIN4, PSMD4, TWF1, NTRK1, NETO2, OTUB1, C1orf131, SMURF2, TRAF6, OFD1, DLD, BRCA1, VPS35, PARP1 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| Tgene | AIMP2 | chr7:6048628 | chr7:6054777 | ENST00000223029 | + | 0 | 4 | 82_162 | 45 | 321 | PRKN |
| Tgene | AIMP2 | chr7:6048628 | chr7:6054777 | ENST00000223029 | + | 0 | 4 | 162_225 | 45 | 321 | TP53 |
| - 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 PMS2_AIMP2 |
| 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 PMS2_AIMP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PMS2 | C0265325 | Turcot syndrome (disorder) | 4 | CTD_human;ORPHANET;UNIPROT |
| Hgene | PMS2 | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 3 | CTD_human |
| Hgene | PMS2 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Hgene | PMS2 | C0035412 | Rhabdomyosarcoma | 1 | CTD_human;HPO |
| Hgene | PMS2 | C0038874 | Supratentorial Neoplasms | 1 | CTD_human |
| Hgene | PMS2 | C0206663 | Neuroectodermal Tumor, Primitive | 1 | CTD_human |
| Hgene | PMS2 | C0221263 | Cafe-au-Lait Spots | 1 | CTD_human;HPO |
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