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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:GTF2IRD1-HSPB1 (FusionGDB2 ID:35250) |
Fusion Gene Summary for GTF2IRD1-HSPB1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GTF2IRD1-HSPB1 | Fusion gene ID: 35250 | Hgene | Tgene | Gene symbol | GTF2IRD1 | HSPB1 | Gene ID | 9569 | 3315 |
| Gene name | GTF2I repeat domain containing 1 | heat shock protein family B (small) member 1 | |
| Synonyms | BEN|CREAM1|GTF3|MUSTRD1|RBAP2|WBS|WBSCR11|WBSCR12|hMusTRD1alpha1 | CMT2F|HEL-S-102|HMN2B|HS.76067|HSP27|HSP28|Hsp25|SRP27 | |
| Cytomap | 7q11.23 | 7q11.23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | general transcription factor II-I repeat domain-containing protein 1USE B1-binding proteinWilliams-Beuren syndrome chromosome region 11binding factor for early enhancergeneral transcription factor 3general transcription factor IIImuscle TFII-I repea | heat shock protein beta-128 kDa heat shock proteinepididymis secretory protein Li 102estrogen-regulated 24 kDa proteinheat shock 27 kDa proteinheat shock 27kD protein 1heat shock 27kDa protein 1stress-responsive protein 27 | |
| Modification date | 20200313 | 20200327 | |
| UniProtAcc | Q9UHL9 | Q9Y547 | |
| Ensembl transtripts involved in fusion gene | ENST00000265755, ENST00000424337, ENST00000455841, ENST00000476977, ENST00000489094, | ENST00000248553, ENST00000429938, | |
| Fusion gene scores | * DoF score | 11 X 6 X 9=594 | 11 X 10 X 4=440 |
| # samples | 12 | 11 | |
| ** MAII score | log2(12/594*10)=-2.30742852519225 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/440*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GTF2IRD1 [Title/Abstract] AND HSPB1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | GTF2IRD1(73868506)-HSPB1(75933119), # samples:1 | ||
| 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 |
| Fusion gene breakpoints across GTF2IRD1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across HSPB1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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 | HNSC | TCGA-CV-7415-01A | GTF2IRD1 | chr7 | 73868506 | + | HSPB1 | chr7 | 75933119 | + |
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Fusion Gene ORF analysis for GTF2IRD1-HSPB1 |
| 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 |
| 5UTR-3CDS | ENST00000265755 | ENST00000248553 | GTF2IRD1 | chr7 | 73868506 | + | HSPB1 | chr7 | 75933119 | + |
| 5UTR-3CDS | ENST00000424337 | ENST00000248553 | GTF2IRD1 | chr7 | 73868506 | + | HSPB1 | chr7 | 75933119 | + |
| 5UTR-3CDS | ENST00000455841 | ENST00000248553 | GTF2IRD1 | chr7 | 73868506 | + | HSPB1 | chr7 | 75933119 | + |
| 5UTR-5UTR | ENST00000265755 | ENST00000429938 | GTF2IRD1 | chr7 | 73868506 | + | HSPB1 | chr7 | 75933119 | + |
| 5UTR-5UTR | ENST00000424337 | ENST00000429938 | GTF2IRD1 | chr7 | 73868506 | + | HSPB1 | chr7 | 75933119 | + |
| 5UTR-5UTR | ENST00000455841 | ENST00000429938 | GTF2IRD1 | chr7 | 73868506 | + | HSPB1 | chr7 | 75933119 | + |
| intron-3CDS | ENST00000476977 | ENST00000248553 | GTF2IRD1 | chr7 | 73868506 | + | HSPB1 | chr7 | 75933119 | + |
| intron-3CDS | ENST00000489094 | ENST00000248553 | GTF2IRD1 | chr7 | 73868506 | + | HSPB1 | chr7 | 75933119 | + |
| intron-5UTR | ENST00000476977 | ENST00000429938 | GTF2IRD1 | chr7 | 73868506 | + | HSPB1 | chr7 | 75933119 | + |
| intron-5UTR | ENST00000489094 | ENST00000429938 | GTF2IRD1 | chr7 | 73868506 | + | HSPB1 | chr7 | 75933119 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| 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 |
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Fusion Genomic Features for GTF2IRD1-HSPB1 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| GTF2IRD1 | chr7 | 73868506 | + | HSPB1 | chr7 | 75933118 | + | 0.012072981 | 0.987927 |
| GTF2IRD1 | chr7 | 73868506 | + | HSPB1 | chr7 | 75933118 | + | 0.012072981 | 0.987927 |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for GTF2IRD1-HSPB1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:73868506/:75933119) - 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 |
| GTF2IRD1 | HSPB1 |
| FUNCTION: May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity). {ECO:0000250, ECO:0000269|PubMed:11438732}. | FUNCTION: Component of the IFT complex B required for sonic hedgehog/SHH signaling. May mediate transport of SHH components: required for the export of SMO and PTCH1 receptors out of the cilium and the accumulation of GLI2 at the ciliary tip in response to activation of the SHH pathway, suggesting it is involved in the dynamic transport of SHH signaling molecules within the cilium. Not required for ciliary assembly. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation (By similarity). {ECO:0000250|UniProtKB:Q9D6H2}. |
| 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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Fusion Gene Sequence for GTF2IRD1-HSPB1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for GTF2IRD1-HSPB1 |
| 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 |
| - 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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Related Drugs for GTF2IRD1-HSPB1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for GTF2IRD1-HSPB1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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