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Fusion gene ID: 9995 |
FusionGeneSummary for DIP2A_THOC2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DIP2A_THOC2 | Fusion gene ID: 9995 | Hgene | Tgene | Gene symbol | DIP2A | THOC2 | Gene ID | 23181 | 57187 |
| Gene name | disco interacting protein 2 homolog A | THO complex 2 | |
| Synonyms | C21orf106|DIP2 | CXorf3|MRX12|MRX35|THO2|dJ506G2.1|hTREX120 | |
| Cytomap | 21q22.3 | Xq25 | |
| Type of gene | protein-coding | protein-coding | |
| Description | disco-interacting protein 2 homolog ADIP2 disco-interacting protein 2 homolog ADIP2 homolog Adisco-interacting protein 2A | THO complex subunit 2mental retardation, X-linked 12mental retardation, X-linked 35 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q14689 | Q8NI27 | |
| Ensembl transtripts involved in fusion gene | ENST00000400274, ENST00000427143, ENST00000318711, ENST00000417564, ENST00000457905, ENST00000466639, ENST00000435722, ENST00000479654, | ENST00000245838, ENST00000355725, ENST00000491737, ENST00000497887, | |
| Fusion gene scores | * DoF score | 9 X 8 X 7=504 | 3 X 2 X 2=12 |
| # samples | 8 | 3 | |
| ** MAII score | log2(8/504*10)=-2.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: DIP2A [Title/Abstract] AND THOC2 [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 | DIP2A | GO:0010629 | negative regulation of gene expression | 20860622 |
| Tgene | THOC2 | GO:0006406 | mRNA export from nucleus | 17190602 |
| Tgene | THOC2 | GO:0016973 | poly(A)+ mRNA export from nucleus | 22928037 |
| Tgene | THOC2 | GO:0046784 | viral mRNA export from host cell nucleus | 18974867 |
| 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 | KIRC | TCGA-CJ-5681-01A | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| * 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 | ENST00000400274 | ENST00000245838 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000400274 | ENST00000355725 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000400274 | ENST00000491737 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| 5CDS-intron | ENST00000400274 | ENST00000497887 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000427143 | ENST00000245838 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000427143 | ENST00000355725 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000427143 | ENST00000491737 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| 5CDS-intron | ENST00000427143 | ENST00000497887 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000318711 | ENST00000245838 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000318711 | ENST00000355725 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000318711 | ENST00000491737 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| 5CDS-intron | ENST00000318711 | ENST00000497887 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000417564 | ENST00000245838 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000417564 | ENST00000355725 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000417564 | ENST00000491737 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| 5CDS-intron | ENST00000417564 | ENST00000497887 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000457905 | ENST00000245838 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000457905 | ENST00000355725 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000457905 | ENST00000491737 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| 5CDS-intron | ENST00000457905 | ENST00000497887 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000466639 | ENST00000245838 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000466639 | ENST00000355725 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000466639 | ENST00000491737 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| 5CDS-intron | ENST00000466639 | ENST00000497887 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000435722 | ENST00000245838 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000435722 | ENST00000355725 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| Frame-shift | ENST00000435722 | ENST00000491737 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| 5CDS-intron | ENST00000435722 | ENST00000497887 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| intron-3CDS | ENST00000479654 | ENST00000245838 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| intron-3CDS | ENST00000479654 | ENST00000355725 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| intron-3CDS | ENST00000479654 | ENST00000491737 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
| intron-intron | ENST00000479654 | ENST00000497887 | DIP2A | chr21 | 47879135 | + | THOC2 | chrX | 122802165 | - |
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FusionProtFeatures for DIP2A_THOC2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DIP2A | THOC2 |
| May provide positional cues for axon pathfinding andpatterning in the central nervous system. | Required for efficient export of polyadenylated RNA andspliced mRNA. Acts as component of the THO subcomplex of the TREXcomplex which is thought to couple mRNA transcription, processingand nuclear export, and which specifically associates with splicedmRNA and not with unspliced pre-mRNA. TREX is recruited to splicedmRNAs by a transcription-independent mechanism, binds to mRNAupstream of the exon-junction complex (EJC) and is recruited in asplicing- and cap-dependent manner to a region near the 5' end ofthe mRNA where it functions in mRNA export to the cytoplasm viathe TAP/NFX1 pathway. The TREX complex is essential for the exportof Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAsand infectious virus production. THOC2 (and probably the THOcomplex) is involved in releasing mRNA from nuclear speckledomains. Required for NXF1 localization to the nuclear rim. Playsa role for proper neuronal development.{ECO:0000269|PubMed:11979277, ECO:0000269|PubMed:15833825,ECO:0000269|PubMed:15998806, ECO:0000269|PubMed:17190602,ECO:0000269|PubMed:18974867, ECO:0000269|PubMed:22893130,ECO:0000269|PubMed:23222130, ECO:0000269|PubMed:26166480}. |
| 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 DIP2A_THOC2 |
| 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 DIP2A_THOC2 |
| 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 |
| DIP2A | MRGBP, JMJD6, AES, PTPN3, TRIP13, TMCC2, SORBS3, PSME3, ZBTB43, MBIP, ADAMTSL4, GPATCH2L, TRIM39, CCDC33, FAM214B, CEP44, STAC3, NXF1, SPINT2, EFNB2, TEX264, TGFBR2, BTN2A1, DLK1, LPCAT1, PTGER3, THBS3, C1orf186, EGFR, HAVCR2, MANSC1, SELE, TPCN2, SSSCA1, IL20RA | THOC2 | SIRT7, DDX39B, ALYREF, THOC5, THOC1, THOC3, THOC6, THOC7, NR5A1, SMAD4, NCBP1, ZCRB1, ZC3H15, UTRN, UBE3C, XPO4, THYN1, WBSCR22, VIM, TTC1, VPS53, TPM1, ZMYM3, VCAM1, MOB1A, RPA1, RPA2, RPA3, LGR4, STAU1, CUL7, OBSL1, SUZ12, EED, RNF2, LUZP4, PDCD4, USP7, NTRK1, MED4, MED20, ACADSB, ADAR, BCL2L2, CAMK2G, DHX9, GNAS, KRT4, MAP2K1, RBBP8, RPS21, SLC4A2, SLC6A9, STX3, SURF4, TERF1, TPD52, FXR1, MTMR3, TOP3B, PKMYT1, ATP6V0D1, COG1, CRIPT, KMT2B, EIF4A3, ZC3H11A, AKAP9, DDX39A, KIF1C, TBC1D8, KIF1B, MRPS27, KIAA0368, TMEM131, ZNF346, KIAA1429, CCDC9, CHTOP, ATP5S, SDF4, MRPL27, C17orf85, GPALPP1, KPNB1, BCLAF1, RNASEH2B, KBTBD7, GNPTAB, PLEKHF2, ZC3H14, FAM103A1, FYTTD1, POLDIP3, SARNP, C19orf47, WDR90, FAM102B, MRPL12 |
| - 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 DIP2A_THOC2 |
| 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 DIP2A_THOC2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | THOC2 | C0796218 | MENTAL RETARDATION, X-LINKED 12 | 1 | ORPHANET;UNIPROT |
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