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Fusion Protein:VTI1A-GTF2H5 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: VTI1A-GTF2H5 | FusionPDB ID: 98589 | FusionGDB2.0 ID: 98589 | Hgene | Tgene | Gene symbol | VTI1A | GTF2H5 | Gene ID | 143187 | 404672 |
| Gene name | vesicle transport through interaction with t-SNAREs 1A | general transcription factor IIH subunit 5 | |
| Synonyms | MMDS3|MVti1|VTI1RP2|Vti1-rp2 | C6orf175|TFB5|TFIIH|TGF2H5|TTD|TTD-A|TTD3|TTDA|bA120J8.2 | |
| Cytomap | 10q25.2 | 6q25.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | vesicle transport through interaction with t-SNAREs homolog 1ASNARE Vti1a-beta proteinvesicle transport v-SNARE protein Vti1-like 2 | general transcription factor IIH subunit 5TFB5 orthologTFIIH basal transcription factor complex TTD-A subunitTFIIH basal transcription factor complex TTDA subunitgeneral transcription factor IIH, polypeptide 5 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q96AJ9 | Q6ZYL4 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000393077, ENST00000432306, ENST00000483122, | ENST00000607778, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 15 X 12 X 12=2160 | 10 X 6 X 8=480 |
| # samples | 24 | 16 | |
| ** MAII score | log2(24/2160*10)=-3.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/480*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: VTI1A [Title/Abstract] AND GTF2H5 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | VTI1A(114298089)-GTF2H5(158613009), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | VTI1A | GO:0042147 | retrograde transport, endosome to Golgi | 15215310|18195106 |
| Fusion gene breakpoints across VTI1A (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across GTF2H5 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | OV | TCGA-24-2262-01A | VTI1A | chr10 | 114298089 | + | GTF2H5 | chr6 | 158613009 | + |
| ChimerDB4 | OV | TCGA-24-2262 | VTI1A | chr10 | 114298089 | + | GTF2H5 | chr6 | 158613008 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000432306 | VTI1A | chr10 | 114298089 | + | ENST00000607778 | GTF2H5 | chr6 | 158613009 | + | 7911 | 543 | 86 | 556 | 156 |
| ENST00000393077 | VTI1A | chr10 | 114298089 | + | ENST00000607778 | GTF2H5 | chr6 | 158613009 | + | 7911 | 543 | 86 | 556 | 156 |
| ENST00000432306 | VTI1A | chr10 | 114298089 | + | ENST00000607778 | GTF2H5 | chr6 | 158613008 | + | 7911 | 543 | 86 | 556 | 156 |
| ENST00000393077 | VTI1A | chr10 | 114298089 | + | ENST00000607778 | GTF2H5 | chr6 | 158613008 | + | 7911 | 543 | 86 | 556 | 156 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000432306 | ENST00000607778 | VTI1A | chr10 | 114298089 | + | GTF2H5 | chr6 | 158613009 | + | 0.001320526 | 0.99867946 |
| ENST00000393077 | ENST00000607778 | VTI1A | chr10 | 114298089 | + | GTF2H5 | chr6 | 158613009 | + | 0.001320526 | 0.99867946 |
| ENST00000432306 | ENST00000607778 | VTI1A | chr10 | 114298089 | + | GTF2H5 | chr6 | 158613008 | + | 0.001320526 | 0.99867946 |
| ENST00000393077 | ENST00000607778 | VTI1A | chr10 | 114298089 | + | GTF2H5 | chr6 | 158613008 | + | 0.001320526 | 0.99867946 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >98589_98589_1_VTI1A-GTF2H5_VTI1A_chr10_114298089_ENST00000393077_GTF2H5_chr6_158613008_ENST00000607778_length(amino acids)=156AA_BP= MAWATRSGAAMSSDFEGYEQDFAVLTAEITSKIARVPRLPPDEKKQMVANVEKQLEEAKELLEQMDLEVREIPPQSRGMYSNRMRSYKQE -------------------------------------------------------------- >98589_98589_2_VTI1A-GTF2H5_VTI1A_chr10_114298089_ENST00000393077_GTF2H5_chr6_158613009_ENST00000607778_length(amino acids)=156AA_BP= MAWATRSGAAMSSDFEGYEQDFAVLTAEITSKIARVPRLPPDEKKQMVANVEKQLEEAKELLEQMDLEVREIPPQSRGMYSNRMRSYKQE -------------------------------------------------------------- >98589_98589_3_VTI1A-GTF2H5_VTI1A_chr10_114298089_ENST00000432306_GTF2H5_chr6_158613008_ENST00000607778_length(amino acids)=156AA_BP= MAWATRSGAAMSSDFEGYEQDFAVLTAEITSKIARVPRLPPDEKKQMVANVEKQLEEAKELLEQMDLEVREIPPQSRGMYSNRMRSYKQE -------------------------------------------------------------- >98589_98589_4_VTI1A-GTF2H5_VTI1A_chr10_114298089_ENST00000432306_GTF2H5_chr6_158613009_ENST00000607778_length(amino acids)=156AA_BP= MAWATRSGAAMSSDFEGYEQDFAVLTAEITSKIARVPRLPPDEKKQMVANVEKQLEEAKELLEQMDLEVREIPPQSRGMYSNRMRSYKQE -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr10:114298089/chr6:158613009) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| VTI1A | GTF2H5 |
| FUNCTION: V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. Involved in vesicular transport from the late endosomes to the trans-Golgi network. Along with VAMP7, involved in an non-conventional RAB1-dependent traffic route to the cell surface used by KCNIP1 and KCND2. May be involved in increased cytokine secretion associated with cellular senescence. {ECO:0000269|PubMed:18195106, ECO:0000269|PubMed:19138172}. | FUNCTION: Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell. {ECO:0000269|PubMed:15220921}. |
| 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. |
| - 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 |
| Hgene | VTI1A | chr10:114298089 | chr6:158613008 | ENST00000393077 | + | 5 | 8 | 31_92 | 142.33333333333334 | 218.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | VTI1A | chr10:114298089 | chr6:158613008 | ENST00000432306 | + | 5 | 8 | 31_92 | 142.33333333333334 | 204.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | VTI1A | chr10:114298089 | chr6:158613009 | ENST00000393077 | + | 5 | 8 | 31_92 | 142.33333333333334 | 218.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | VTI1A | chr10:114298089 | chr6:158613009 | ENST00000432306 | + | 5 | 8 | 31_92 | 142.33333333333334 | 204.0 | Coiled coil | Ontology_term=ECO:0000255 |
| - 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 |
| Hgene | VTI1A | chr10:114298089 | chr6:158613008 | ENST00000393077 | + | 5 | 8 | 112_178 | 142.33333333333334 | 218.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | VTI1A | chr10:114298089 | chr6:158613008 | ENST00000432306 | + | 5 | 8 | 112_178 | 142.33333333333334 | 204.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | VTI1A | chr10:114298089 | chr6:158613009 | ENST00000393077 | + | 5 | 8 | 112_178 | 142.33333333333334 | 218.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | VTI1A | chr10:114298089 | chr6:158613009 | ENST00000432306 | + | 5 | 8 | 112_178 | 142.33333333333334 | 204.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | VTI1A | chr10:114298089 | chr6:158613008 | ENST00000393077 | + | 5 | 8 | 1_192 | 142.33333333333334 | 218.0 | Topological domain | Cytoplasmic |
| Hgene | VTI1A | chr10:114298089 | chr6:158613008 | ENST00000393077 | + | 5 | 8 | 214_217 | 142.33333333333334 | 218.0 | Topological domain | Extracellular |
| Hgene | VTI1A | chr10:114298089 | chr6:158613008 | ENST00000432306 | + | 5 | 8 | 1_192 | 142.33333333333334 | 204.0 | Topological domain | Cytoplasmic |
| Hgene | VTI1A | chr10:114298089 | chr6:158613008 | ENST00000432306 | + | 5 | 8 | 214_217 | 142.33333333333334 | 204.0 | Topological domain | Extracellular |
| Hgene | VTI1A | chr10:114298089 | chr6:158613009 | ENST00000393077 | + | 5 | 8 | 1_192 | 142.33333333333334 | 218.0 | Topological domain | Cytoplasmic |
| Hgene | VTI1A | chr10:114298089 | chr6:158613009 | ENST00000393077 | + | 5 | 8 | 214_217 | 142.33333333333334 | 218.0 | Topological domain | Extracellular |
| Hgene | VTI1A | chr10:114298089 | chr6:158613009 | ENST00000432306 | + | 5 | 8 | 1_192 | 142.33333333333334 | 204.0 | Topological domain | Cytoplasmic |
| Hgene | VTI1A | chr10:114298089 | chr6:158613009 | ENST00000432306 | + | 5 | 8 | 214_217 | 142.33333333333334 | 204.0 | Topological domain | Extracellular |
| Hgene | VTI1A | chr10:114298089 | chr6:158613008 | ENST00000393077 | + | 5 | 8 | 193_213 | 142.33333333333334 | 218.0 | Transmembrane | Helical |
| Hgene | VTI1A | chr10:114298089 | chr6:158613008 | ENST00000432306 | + | 5 | 8 | 193_213 | 142.33333333333334 | 204.0 | Transmembrane | Helical |
| Hgene | VTI1A | chr10:114298089 | chr6:158613009 | ENST00000393077 | + | 5 | 8 | 193_213 | 142.33333333333334 | 218.0 | Transmembrane | Helical |
| Hgene | VTI1A | chr10:114298089 | chr6:158613009 | ENST00000432306 | + | 5 | 8 | 193_213 | 142.33333333333334 | 204.0 | Transmembrane | Helical |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| VTI1A | VAMP4, VAMP3, STX7, STX8, VAMP8, env, TMBIM6, STX6, STX12, CLEC12A, Snap29, HAUS1, HNRNPL, RNF4, BET1, APEX1, NAPA, VAMP5, ORF7b, ARF6, B3GAT1, LAMP2, LAMP3, LAMTOR1, MARCKS, RAB2A, RAB4A, RAB5A, RAB5C, RAB9A, EDEM1, TRPC4AP, TMEM74, ZDHHC12, SEC22B, SMPD1, TMEM9, NAPG, TMEM9B, GPRC5B, B4GALT5, TMEM171, ASPH, SLC39A4, VPS45, SNAP29, HLA-C, STX11, STX18, |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| VTI1A |  |
| GTF2H5 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to VTI1A-GTF2H5 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to VTI1A-GTF2H5 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | VTI1A | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Hgene | VTI1A | C0009402 | Colorectal Carcinoma | 1 | CTD_human |
| Hgene | VTI1A | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | VTI1A | C0205641 | Adenocarcinoma, Basal Cell | 1 | CTD_human |
| Hgene | VTI1A | C0205642 | Adenocarcinoma, Oxyphilic | 1 | CTD_human |
| Hgene | VTI1A | C0205643 | Carcinoma, Cribriform | 1 | CTD_human |
| Hgene | VTI1A | C0205644 | Carcinoma, Granular Cell | 1 | CTD_human |
| Hgene | VTI1A | C0205645 | Adenocarcinoma, Tubular | 1 | CTD_human |
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