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Fusion gene ID: 38932 |
FusionGeneSummary for TNPO1_GTF2H1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TNPO1_GTF2H1 | Fusion gene ID: 38932 | Hgene | Tgene | Gene symbol | TNPO1 | GTF2H1 | Gene ID | 3842 | 2965 |
| Gene name | transportin 1 | general transcription factor IIH subunit 1 | |
| Synonyms | IPO2|KPNB2|MIP|MIP1|TRN | BTF2|P62|TFB1|TFIIH | |
| Cytomap | 5q13.2 | 11p15.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transportin-1M9 region interaction proteinimportin 2importin beta 2karyopherin (importin) beta 2karyopherin beta-2 | general transcription factor IIH subunit 1BTF2 p62TFIIH basal transcription factor complex p62 subunitbasic transcription factor 2 62 kDa subunitgeneral transcription factor IIH polypeptide 1general transcription factor IIH, polypeptide 1, 62kDa | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q92973 | P32780 | |
| Ensembl transtripts involved in fusion gene | ENST00000337273, ENST00000454282, ENST00000447967, ENST00000523768, ENST00000513944, ENST00000506351, | ENST00000453096, ENST00000531757, ENST00000534641, ENST00000265963, ENST00000524753, ENST00000530496, ENST00000526630, | |
| Fusion gene scores | * DoF score | 7 X 6 X 6=252 | 1 X 1 X 1=1 |
| # samples | 8 | 1 | |
| ** MAII score | log2(8/252*10)=-1.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: TNPO1 [Title/Abstract] AND GTF2H1 [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 | GTF2H1 | GO:0006366 | transcription by RNA polymerase II | 9852112 |
| Tgene | GTF2H1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 8692841 |
| 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 | BRCA | TCGA-E2-A1L7-01A | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| * 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 |
| 3UTR-3CDS | ENST00000337273 | ENST00000453096 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-intron | ENST00000337273 | ENST00000531757 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-intron | ENST00000337273 | ENST00000534641 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-intron | ENST00000337273 | ENST00000265963 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-intron | ENST00000337273 | ENST00000524753 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-intron | ENST00000337273 | ENST00000530496 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-5UTR | ENST00000337273 | ENST00000526630 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-3CDS | ENST00000454282 | ENST00000453096 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-intron | ENST00000454282 | ENST00000531757 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-intron | ENST00000454282 | ENST00000534641 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-intron | ENST00000454282 | ENST00000265963 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-intron | ENST00000454282 | ENST00000524753 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-intron | ENST00000454282 | ENST00000530496 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-5UTR | ENST00000454282 | ENST00000526630 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-3CDS | ENST00000447967 | ENST00000453096 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-intron | ENST00000447967 | ENST00000531757 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-intron | ENST00000447967 | ENST00000534641 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-intron | ENST00000447967 | ENST00000265963 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-intron | ENST00000447967 | ENST00000524753 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-intron | ENST00000447967 | ENST00000530496 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-5UTR | ENST00000447967 | ENST00000526630 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-3CDS | ENST00000523768 | ENST00000453096 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-intron | ENST00000523768 | ENST00000531757 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-intron | ENST00000523768 | ENST00000534641 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-intron | ENST00000523768 | ENST00000265963 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-intron | ENST00000523768 | ENST00000524753 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-intron | ENST00000523768 | ENST00000530496 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-5UTR | ENST00000523768 | ENST00000526630 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-3CDS | ENST00000513944 | ENST00000453096 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-intron | ENST00000513944 | ENST00000531757 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-intron | ENST00000513944 | ENST00000534641 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-intron | ENST00000513944 | ENST00000265963 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-intron | ENST00000513944 | ENST00000524753 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-intron | ENST00000513944 | ENST00000530496 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| intron-5UTR | ENST00000513944 | ENST00000526630 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-3CDS | ENST00000506351 | ENST00000453096 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-intron | ENST00000506351 | ENST00000531757 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-intron | ENST00000506351 | ENST00000534641 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-intron | ENST00000506351 | ENST00000265963 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-intron | ENST00000506351 | ENST00000524753 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-intron | ENST00000506351 | ENST00000530496 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
| 3UTR-5UTR | ENST00000506351 | ENST00000526630 | TNPO1 | chr5 | 72201272 | + | GTF2H1 | chr11 | 18373428 | + |
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FusionProtFeatures for TNPO1_GTF2H1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TNPO1 | GTF2H1 |
| Functions in nuclear protein import as nuclear transportreceptor. Serves as receptor for nuclear localization signals(NLS) in cargo substrates (PubMed:24753571). Is thought to mediatedocking of the importin/substrate complex to the nuclear porecomplex (NPC) through binding to nucleoporin and the complex issubsequently translocated through the pore by an energy requiring,Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ranbinds to the importin, the importin/substrate complex dissociatesand importin is re-exported from the nucleus to the cytoplasmwhere GTP hydrolysis releases Ran. The directionality of nuclearimport is thought to be conferred by an asymmetric distribution ofthe GTP- and GDP-bound forms of Ran between the cytoplasm andnucleus (By similarity). Involved in nuclear import of M9-containing proteins. In vitro, binds directly to the M9 region ofthe heterogeneous nuclear ribonucleoproteins (hnRNP), A1 and A2and mediates their nuclear import. Appears also to be involved inhnRNP A1/A2 nuclear export. Mediates the nuclear import ofribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-likeimport receptor binding (BIB) domain of RPL23A. In vitro, mediatesnuclear import of H2A, H2B, H3 and H4 histones, and SRP19 (Bysimilarity). Mediates nuclear import of ADAR/ADAR1 isoform 1 andisoform 5 in a RanGTP-dependent manner (PubMed:19124606,PubMed:24753571). {ECO:0000250|UniProtKB:Q8BFY9,ECO:0000269|PubMed:11682607, ECO:0000269|PubMed:19124606,ECO:0000269|PubMed:24753571, ECO:0000269|PubMed:8986607,ECO:0000269|PubMed:9687515}. (Microbial infection) In case of HIV-1 infection, bindsand mediates the nuclear import of HIV-1 Rev.{ECO:0000269|PubMed:16704975}. | Component of the general transcription and DNA repairfactor IIH (TFIIH) core complex, which is involved in general andtranscription-coupled nucleotide excision repair (NER) of damagedDNA and, when complexed to CAK, in RNA transcription by RNApolymerase II. In NER, TFIIH acts by opening DNA around the lesionto allow the excision of the damaged oligonucleotide and itsreplacement by a new DNA fragment. In transcription, TFIIH has anessential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is requiredfor promoter opening and promoter escape. Phosphorylation of theC-terminal tail (CTD) of the largest subunit of RNA polymerase IIby the kinase module CAK controls the initiation of transcription.{ECO:0000269|PubMed:9852112}. |
| 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 TNPO1_GTF2H1 |
| 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 TNPO1_GTF2H1 |
| 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 |
| TNPO1 | RGPD5, SRP19, RPL23A, RAN, NUP98, PABPN1, TCEA2, CD4, MME, HDAC5, SIRT7, NXF1, NDN, IPO5, VPS16, TNPO3, WRAP53, SNRPA, NOTCH1, CA9, LRRK2, NFATC2, ITGA4, SOX2, EGFR, IPO4, IPO7, IREB2, PPP2CA, IPO9, PPP3CA, RRM1, VBP1, TXNRD1, PHKG2, CUL7, OBSL1, CCDC8, CD274, VSIG2, TUSC5, HTR6, IPO8, RANBP6, BYSL, GAR1, TUBA4A, TUBB3, NTRK1, STIL, ERBB2, XRCC3, AKAP5, NUP153, TMEM63B, ENTHD2, MBOAT1, SUCO, CDC5L, SIGLECL1, TMA16, PTPRA, PTPRE, PTPRN, STOM, TRIM25, G3BP1, BRCA1 | GTF2H1 | ERCC3, CCSER2, ESR1, TCEA1, ERCC2, CDK7, TP53, E2F1, FUBP1, AR, CCNH, GTF2H2, PSMC2, HOXC11, POU2AF1, BRPF1, JDP2, ZSCAN1, TXNRD2, RXRB, MNAT1, ERCC1, ERCC4, ERCC5, RPA1, RPA2, RAD23B, XPC, XPA, GTF2H3, UBC, RAD23A, POLR2A, GTF2F1, GTF2H4, RB1, MMS19, POLR2C, GTF2E1, UVSSA, HNF4A, KLF1, RNF11, KPNA3, TRIOBP, REEP5, TNIP1, USHBP1, ACTN1, FGL1, GTF2H2C_2, GTF2H2C, GTF2H5, LZTS2, NUDC, TRIM25 |
| - 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 TNPO1_GTF2H1 |
| 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 TNPO1_GTF2H1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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