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Fusion gene ID: 38948 |
FusionGeneSummary for TNPO3_DYM |
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Fusion gene information | Fusion gene name: TNPO3_DYM | Fusion gene ID: 38948 | Hgene | Tgene | Gene symbol | TNPO3 | DYM | Gene ID | 23534 | 54808 |
Gene name | transportin 3 | dymeclin | |
Synonyms | IPO12|LGMD1F|MTR10A|TRN-SR|TRN-SR2|TRNSR | DMC|SMC | |
Cytomap | 7q32.1 | 18q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | transportin-3imp12importin 12limb girdle muscular dystrophy 1F (autosomal dominant)transportin-SR | dymeclindyggve-Melchior-Clausen syndrome protein | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9Y5L0 | Q7RTS9 | |
Ensembl transtripts involved in fusion gene | ENST00000393245, ENST00000265388, ENST00000482320, ENST00000471234, ENST00000471166, | ENST00000442713, ENST00000269445, ENST00000584977, ENST00000578396, | |
Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 8 X 5 X 8=320 |
# samples | 5 | 9 | |
** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/320*10)=-1.83007499855769 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: TNPO3 [Title/Abstract] AND DYM [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | OV | TCGA-24-1426-01A | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000393245 | ENST00000442713 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
Frame-shift | ENST00000393245 | ENST00000269445 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
5CDS-intron | ENST00000393245 | ENST00000584977 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
5CDS-intron | ENST00000393245 | ENST00000578396 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
Frame-shift | ENST00000265388 | ENST00000442713 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
Frame-shift | ENST00000265388 | ENST00000269445 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
5CDS-intron | ENST00000265388 | ENST00000584977 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
5CDS-intron | ENST00000265388 | ENST00000578396 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
5UTR-3CDS | ENST00000482320 | ENST00000442713 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
5UTR-3CDS | ENST00000482320 | ENST00000269445 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
5UTR-intron | ENST00000482320 | ENST00000584977 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
5UTR-intron | ENST00000482320 | ENST00000578396 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
Frame-shift | ENST00000471234 | ENST00000442713 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
Frame-shift | ENST00000471234 | ENST00000269445 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
5CDS-intron | ENST00000471234 | ENST00000584977 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
5CDS-intron | ENST00000471234 | ENST00000578396 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
Frame-shift | ENST00000471166 | ENST00000442713 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
Frame-shift | ENST00000471166 | ENST00000269445 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
5CDS-intron | ENST00000471166 | ENST00000584977 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
5CDS-intron | ENST00000471166 | ENST00000578396 | TNPO3 | chr7 | 128694705 | - | DYM | chr18 | 46690157 | - |
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FusionProtFeatures for TNPO3_DYM |
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Hgene | Tgene |
TNPO3 | DYM |
Seems to function in nuclear protein import as nucleartransport receptor. In vitro, mediates the nuclear import ofsplicing factor SR proteins RBM4, SFRS1 and SFRS2, by recognizingphosphorylated RS domains. {ECO:0000269|PubMed:10366588,ECO:0000269|PubMed:10713112, ECO:0000269|PubMed:11517331,ECO:0000269|PubMed:12628928}. |
![]() * 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 TNPO3_DYM |
![]() (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 TNPO3_DYM |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
TNPO3 | C20orf24, PHLDA3, BRF2, USP19, ELAVL1, CHMP3, TNPO1, UBE3A, CA9, VCP, SMURF2, CFTR, SOX2, EGFR, CLK3, CLK2, ACTR3, ARPC2, FEN1, HNRNPH1, IPO9, PFDN6, PPP2CA, PPP3CA, ALDOA, ELAC2, PPP2R1A, TTLL12, NXF1, COMTD1, STX5, RSRP1, CD274, TMEM171, VSIG2, P2RY12, LUC7L, LYPD3, RP2, MICA, P2RX4, PTGER3, SCN2B, SCARA3, UNK, COL4A2, NTRK1, JAK3, RAD18, AK7, DUSP4, CD70, VIPR2, SIGLECL1, VASN, TMEM206, FZD10, HTR2C, ST6GAL1, ATP2B2, VSIG1, TNFRSF1A, P2RX5, BCAM, OPRM1, FCGRT, PTPRA, PTPRE, PTPRN, STOM, TRIM25 | DYM | HS2ST1, VSIG2, PNKD, P2RY12, PTGER3, DUSP28, SIGLECL1, EPHA1, VIPR1, CHRM3, CD70, FPR2, VIPR2, FZD10, TNFSF13B, SLCO1B1, OPRM1, PTPRN |
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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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for TNPO3_DYM |
![]() (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 TNPO3_DYM |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | TNPO3 | C1842062 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F | 1 | ORPHANET;UNIPROT |
Tgene | DYM | C3888088 | SMITH-MCCORT DYSPLASIA 1 | 3 | UNIPROT |
Tgene | DYM | C0265286 | Dyggve-Melchior-Clausen syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | DYM | C0036341 | Schizophrenia | 1 | PSYGENET |