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Fusion gene ID: 21163 |
FusionGeneSummary for MATR3_PSD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MATR3_PSD2 | Fusion gene ID: 21163 | Hgene | Tgene | Gene symbol | MATR3 | PSD2 | Gene ID | 9782 | 84249 |
| Gene name | matrin 3 | pleckstrin and Sec7 domain containing 2 | |
| Synonyms | ALS21|MPD2|VCPDM | EFA6C | |
| Cytomap | 5q31.2 | 5q31.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | matrin-3vocal cord and pharyngeal weakness with distal myopathy | PH and SEC7 domain-containing protein 2exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 Cexchange factor for ARF6 Cpleckstrin homology and SEC7 domain-containing protein 2 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | P43243 | Q9BQI7 | |
| Ensembl transtripts involved in fusion gene | ENST00000509990, ENST00000361059, ENST00000504203, ENST00000502929, ENST00000394800, ENST00000507197, ENST00000394805, ENST00000502499, ENST00000510056, ENST00000503811, | ENST00000274710, | |
| Fusion gene scores | * DoF score | 10 X 6 X 4=240 | 4 X 4 X 4=64 |
| # samples | 9 | 4 | |
| ** MAII score | log2(9/240*10)=-1.41503749927884 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MATR3 [Title/Abstract] AND PSD2 [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 |
| Hgene | MATR3 | GO:0002218 | activation of innate immune response | 28712728 |
| Hgene | MATR3 | GO:0010608 | posttranscriptional regulation of gene expression | 21771347 |
| 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 | LD | LUSC | TCGA-34-A5IX-01A | MATR3 | chr5 | 138629494 | + | PSD2 | chr5 | 139188976 | + |
| * 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 |
| intron-5UTR | ENST00000509990 | ENST00000274710 | MATR3 | chr5 | 138629494 | + | PSD2 | chr5 | 139188976 | + |
| intron-5UTR | ENST00000361059 | ENST00000274710 | MATR3 | chr5 | 138629494 | + | PSD2 | chr5 | 139188976 | + |
| intron-5UTR | ENST00000504203 | ENST00000274710 | MATR3 | chr5 | 138629494 | + | PSD2 | chr5 | 139188976 | + |
| intron-5UTR | ENST00000502929 | ENST00000274710 | MATR3 | chr5 | 138629494 | + | PSD2 | chr5 | 139188976 | + |
| intron-5UTR | ENST00000394800 | ENST00000274710 | MATR3 | chr5 | 138629494 | + | PSD2 | chr5 | 139188976 | + |
| intron-5UTR | ENST00000507197 | ENST00000274710 | MATR3 | chr5 | 138629494 | + | PSD2 | chr5 | 139188976 | + |
| 5UTR-5UTR | ENST00000394805 | ENST00000274710 | MATR3 | chr5 | 138629494 | + | PSD2 | chr5 | 139188976 | + |
| 5UTR-5UTR | ENST00000502499 | ENST00000274710 | MATR3 | chr5 | 138629494 | + | PSD2 | chr5 | 139188976 | + |
| 5UTR-5UTR | ENST00000510056 | ENST00000274710 | MATR3 | chr5 | 138629494 | + | PSD2 | chr5 | 139188976 | + |
| 5UTR-5UTR | ENST00000503811 | ENST00000274710 | MATR3 | chr5 | 138629494 | + | PSD2 | chr5 | 139188976 | + |
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FusionProtFeatures for MATR3_PSD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MATR3 | PSD2 |
| May play a role in transcription or may interact withother nuclear matrix proteins to form the internal fibrogranularnetwork. In association with the SFPQ-NONO heteromer may play arole in nuclear retention of defective RNAs. Plays a role in theregulation of DNA virus-mediated innate immune response byassembling into the HDP-RNP complex, a complex that serves as aplatform for IRF3 phosphorylation and subsequent innate immuneresponse activation through the cGAS-STING pathway(PubMed:28712728). May bind to specific miRNA hairpins(PubMed:28431233). {ECO:0000269|PubMed:11525732,ECO:0000269|PubMed:28431233, ECO:0000269|PubMed:28712728}. |
| 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 MATR3_PSD2 |
| 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 MATR3_PSD2 |
| 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 |
| MATR3 | HNRNPK, GSTK1, RUVBL2, CDK9, MEPCE, EGFR, H2AFX, UBC, CALM1, DISC1, TNFRSF21, AIMP2, SNAP23, SMARCAD1, NFX1, CUL3, CDK2, CUL1, COPS5, CAND1, NEDD8, GFI1B, PCBP1, SMU1, SAP18, STOML2, RANBP2, UTP14A, IARS2, RRP7A, PPT2, S100A9, SARS2, RRS1, NAA15, PRKCDBP, MYOF, MRPL19, MAGOH, EIF4A3, FN1, PTBP2, IFIT2, MAP1LC3A, ITGA4, PAN2, TARDBP, PARK2, RPA3, RPA2, RPA1, WWOX, ERG, LGR4, STAU1, AURKA, CEP250, MATR3, RASD1, CUL7, OBSL1, CCDC8, UBE2I, EED, SIRT6, HNRNPA1, FBXW11, UNK, NTRK1, BTF3, CALR, EEF1D, HNRNPU, ATP5A1, PUF60, RPL7, RUVBL1, SF3A3, SNRNP70, SNRPC, SRSF3, SUB1, YBX1, SRPK2, B9D2, ADAR, COPA, DDX3X, DDX5, DHX9, EWSR1, FUS, HNRNPA2B1, HNRNPC, HNRNPF, HNRNPH1, HNRNPH2, HNRNPH3, HNRNPL, ILF2, ILF3, HNRNPM, NAP1L4, NUMA1, PKP2, PPP1CA, PPP1CB, PTBP1, RBM3, RCN1, SAFB, SET, SNRPA, TAF15, PKP4, EIF3D, SRSF9, TNK1, FUBP3, APOBEC3B, SAFB2, PUM1, MPHOSPH8, HNRNPDL, PTBP3, DNAJB6, SUGP2, RBM6, ALYREF, HNRNPR, AKAP8, RBM14, DDX17, KHDRBS1, HNRNPA0, HNRNPUL1, PKP3, RALY, FAM120A, FAM208A, RBFOX2, TIMM13, AKAP8L, STAU2, RBMX, ZNF638, RBM15B, RTCB, PPHLN1, C14orf166, POLR3B, DDX28, YLPM1, NCOA5, SQRDL, ZNF106, ZNF668, SLTM, PRR3, RBM4B, GSG2, DPY30, NLRP5, ESCO2, HNRNPA3, HNRNPUL2, CXorf23, ZNF326, RBM12B, EIF2AK4, RBMXL1, CRY1, CRY2, ALKBH3, MCM5, SENP3, U2AF2, RC3H1, CRBN, ELAVL2, CDK5RAP1, CYLD, TRIM25, BRCA1, LMNA, YAP1, MTF1 | PSD2 | PMS2, PMS1 |
| - 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 MATR3_PSD2 |
| 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 MATR3_PSD2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MATR3 | C3807521 | AMYOTROPHIC LATERAL SCLEROSIS 21 | 2 | ORPHANET;UNIPROT |
| Tgene | PSD2 | C0032927 | Precancerous Conditions | 1 | CTD_human |
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