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Fusion Protein:HSPB1-KRT19 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: HSPB1-KRT19 | FusionPDB ID: 37939 | FusionGDB2.0 ID: 37939 | Hgene | Tgene | Gene symbol | HSPB1 | KRT19 | Gene ID | 3315 | 3880 |
| Gene name | heat shock protein family B (small) member 1 | keratin 19 | |
| Synonyms | CMT2F|HEL-S-102|HMN2B|HS.76067|HSP27|HSP28|Hsp25|SRP27 | CK19|K19|K1CS | |
| Cytomap | 7q11.23 | 17q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 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 | keratin, type I cytoskeletal 1940-kDa keratin intermediate filamentCK-19cytokeratin 19keratin 19, type Ikeratin, type I, 40-kd | |
| Modification date | 20200327 | 20200327 | |
| UniProtAcc | Q9Y547 | P08727 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000248553, ENST00000429938, | ENST00000361566, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 24 X 17 X 8=3264 | 14 X 10 X 5=700 |
| # samples | 26 | 15 | |
| ** MAII score | log2(26/3264*10)=-3.65005752894304 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/700*10)=-2.22239242133645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: HSPB1 [Title/Abstract] AND KRT19 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | HSPB1(75933392)-KRT19(39681232), # samples:1 HSPB1(75933068)-KRT19(39679981), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | HSPB1-KRT19 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. HSPB1-KRT19 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. HSPB1-KRT19 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. HSPB1-KRT19 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. | ||
| * 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 | KRT19 | GO:0045214 | sarcomere organization | 16000376 |
| Fusion gene breakpoints across HSPB1 (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 KRT19 (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 | CESC | TCGA-JX-A3Q0-01A | HSPB1 | chr7 | 75933392 | - | KRT19 | chr17 | 39681232 | - |
| ChiTaRS5.0 | N/A | CA336509 | HSPB1 | chr7 | 75933068 | + | KRT19 | chr17 | 39679981 | - |
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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) |
| ENST00000248553 | HSPB1 | chr7 | 75933392 | - | ENST00000361566 | KRT19 | chr17 | 39681232 | - | 1624 | 817 | 1029 | 304 | 241 |
| ENST00000429938 | HSPB1 | chr7 | 75933392 | - | ENST00000361566 | KRT19 | chr17 | 39681232 | - | 1242 | 435 | 647 | 114 | 177 |
| 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 |
| ENST00000248553 | ENST00000361566 | HSPB1 | chr7 | 75933392 | - | KRT19 | chr17 | 39681232 | - | 0.52000445 | 0.47999558 |
| ENST00000429938 | ENST00000361566 | HSPB1 | chr7 | 75933392 | - | KRT19 | chr17 | 39681232 | - | 0.6029568 | 0.3970433 |
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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 >37939_37939_1_HSPB1-KRT19_HSPB1_chr7_75933392_ENST00000248553_KRT19_chr17_39681232_ENST00000361566_length(amino acids)=241AA_BP=1 MSLEQAAVGGNLLLQPRLDVHEPLVLLILPLTISSHIAQLGFNTADQRLDMRQLGSKARLRFCQCVFQGSFTGGCFELYLRKTEDKCIKR THRWRGRHSQWRQQGWASGLRLYLAAVSSDFAASGPPSWARDSKVTGMVISLDCGVFPREAPGDVAMLVLPLLVLAGDLHHAILGLDRQL -------------------------------------------------------------- >37939_37939_2_HSPB1-KRT19_HSPB1_chr7_75933392_ENST00000429938_KRT19_chr17_39681232_ENST00000361566_length(amino acids)=177AA_BP= MSLEQAAVGGNLLLQPRLDVHEPLVLLILPLTISSHIAQLGFNTADQRLDMRQLGSKARLRFCQCVFQGSFTGGCFELYLRKTEDKCIKR -------------------------------------------------------------- |
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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/chr7:75933392/chr17:39681232) - 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 |
| HSPB1 | KRT19 |
| 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}. | FUNCTION: Involved in the organization of myofibers. Together with KRT8, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle. {ECO:0000269|PubMed:16000376}. |
| 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 |
| Tgene | KRT19 | chr7:75933392 | chr17:39681232 | ENST00000361566 | 0 | 6 | 80_391 | 0 | 401.0 | Domain | IF rod | |
| Tgene | KRT19 | chr7:75933392 | chr17:39681232 | ENST00000361566 | 0 | 6 | 116_133 | 0 | 401.0 | Region | Note=Linker 1 | |
| Tgene | KRT19 | chr7:75933392 | chr17:39681232 | ENST00000361566 | 0 | 6 | 134_225 | 0 | 401.0 | Region | Note=Coil 1B | |
| Tgene | KRT19 | chr7:75933392 | chr17:39681232 | ENST00000361566 | 0 | 6 | 1_79 | 0 | 401.0 | Region | Note=Head | |
| Tgene | KRT19 | chr7:75933392 | chr17:39681232 | ENST00000361566 | 0 | 6 | 226_248 | 0 | 401.0 | Region | Note=Linker 12 | |
| Tgene | KRT19 | chr7:75933392 | chr17:39681232 | ENST00000361566 | 0 | 6 | 249_387 | 0 | 401.0 | Region | Note=Coil 2 | |
| Tgene | KRT19 | chr7:75933392 | chr17:39681232 | ENST00000361566 | 0 | 6 | 388_400 | 0 | 401.0 | Region | Note=Rod-like helical tail | |
| Tgene | KRT19 | chr7:75933392 | chr17:39681232 | ENST00000361566 | 0 | 6 | 80_115 | 0 | 401.0 | Region | Note=Coil 1A |
| - 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 | HSPB1 | chr7:75933392 | chr17:39681232 | ENST00000248553 | - | 1 | 3 | 76_184 | 0 | 206.0 | Domain | sHSP |
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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 |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| HSPB1 | |
| KRT19 |
| - 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 |
| Hgene | HSPB1 | chr7:75933392 | chr17:39681232 | ENST00000248553 | - | 1 | 3 | 70_205 | 0 | 206.0 | TGFB1I1 |
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Related Drugs to HSPB1-KRT19 |
| 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 HSPB1-KRT19 |
| 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 |
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