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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:CSTB-KRT5 (FusionGDB2 ID:19994) |
Fusion Gene Summary for CSTB-KRT5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CSTB-KRT5 | Fusion gene ID: 19994 | Hgene | Tgene | Gene symbol | CSTB | KRT5 | Gene ID | 1476 | 3852 |
| Gene name | cystatin B | keratin 5 | |
| Synonyms | CPI-B|CST6|EPM1|EPM1A|PME|STFB|ULD | CK5|DDD|DDD1|EBS2|K5|KRT5A | |
| Cytomap | 21q22.3 | 12q13.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cystatin-Bcystatin B (stefin B)epididymis secretory sperm binding proteinliver thiol proteinase inhibitor | keratin, type II cytoskeletal 558 kda cytokeratinCK-5cytokeratin-5epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne typeskeratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)keratin 5, type IItype-II | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P04080 | P13647 | |
| Ensembl transtripts involved in fusion gene | ENST00000291568, | ENST00000252242, | |
| Fusion gene scores | * DoF score | 10 X 9 X 5=450 | 13 X 16 X 3=624 |
| # samples | 9 | 15 | |
| ** MAII score | log2(9/450*10)=-2.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/624*10)=-2.05658352836637 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CSTB [Title/Abstract] AND KRT5 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | CSTB(45196098)-KRT5(52910437), # 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 |
| Hgene | CSTB | GO:0010466 | negative regulation of peptidase activity | 6203523 |
| Hgene | CSTB | GO:0045861 | negative regulation of proteolysis | 3488317 |
| Fusion gene breakpoints across CSTB (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 KRT5 (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-7425 | CSTB | chr21 | 45196098 | - | KRT5 | chr12 | 52910437 | - |
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Fusion Gene ORF analysis for CSTB-KRT5 |
| 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 |
| intron-3CDS | ENST00000291568 | ENST00000252242 | CSTB | chr21 | 45196098 | - | KRT5 | chr12 | 52910437 | - |
| 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 CSTB-KRT5 |
| 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) |
| 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 CSTB-KRT5 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CSTB | KRT5 |
| FUNCTION: This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B. |
| 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 CSTB-KRT5 |
| 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 CSTB-KRT5 |
| 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 CSTB-KRT5 |
| 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 |
| Hgene | CSTB | P04080 | DB09131 | Cupric Chloride | Small molecule | Approved|Investigational | |
| Hgene | CSTB | P04080 | DB09131 | Cupric Chloride | Small molecule | Approved|Investigational | |
| Hgene | CSTB | P04080 | DB09131 | Cupric Chloride | Small molecule | Approved|Investigational | |
| Tgene | KRT5 | P13647 | DB01593 | Zinc | Small molecule | Approved|Investigational | |
| Tgene | KRT5 | P13647 | DB14487 | Zinc acetate | Small molecule | Approved|Investigational |
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Related Diseases for CSTB-KRT5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CSTB | C0751785 | Unverricht-Lundborg Syndrome | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | CSTB | C0027626 | Neoplasm Invasiveness | 2 | CTD_human |
| Hgene | CSTB | C0017636 | Glioblastoma | 1 | CTD_human |
| Hgene | CSTB | C0025286 | Meningioma | 1 | CTD_human |
| Hgene | CSTB | C0205834 | Meningiomas, Multiple | 1 | CTD_human |
| Hgene | CSTB | C0259785 | Malignant Meningioma | 1 | CTD_human |
| Hgene | CSTB | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Hgene | CSTB | C0281784 | Benign Meningioma | 1 | CTD_human |
| Hgene | CSTB | C0334588 | Giant Cell Glioblastoma | 1 | CTD_human |
| Hgene | CSTB | C0334605 | Meningothelial meningioma | 1 | CTD_human |
| Hgene | CSTB | C0334606 | Fibrous Meningioma | 1 | CTD_human |
| Hgene | CSTB | C0334607 | Psammomatous Meningioma | 1 | CTD_human |
| Hgene | CSTB | C0334608 | Angiomatous Meningioma | 1 | CTD_human |
| Hgene | CSTB | C0334609 | Hemangioblastic Meningioma | 1 | CTD_human |
| Hgene | CSTB | C0334610 | Hemangiopericytic Meningioma | 1 | CTD_human |
| Hgene | CSTB | C0334611 | Transitional Meningioma | 1 | CTD_human |
| Hgene | CSTB | C0347515 | Spinal Meningioma | 1 | CTD_human |
| Hgene | CSTB | C0349604 | Intracranial Meningioma | 1 | CTD_human |
| Hgene | CSTB | C0431121 | Clear Cell Meningioma | 1 | CTD_human |
| Hgene | CSTB | C0457190 | Xanthomatous Meningioma | 1 | CTD_human |
| Hgene | CSTB | C0751303 | Cerebral Convexity Meningioma | 1 | CTD_human |
| Hgene | CSTB | C0751304 | Parasagittal Meningioma | 1 | CTD_human |
| Hgene | CSTB | C1334261 | Intraorbital Meningioma | 1 | CTD_human |
| Hgene | CSTB | C1334271 | Intraventricular Meningioma | 1 | CTD_human |
| Hgene | CSTB | C1335107 | Olfactory Groove Meningioma | 1 | CTD_human |
| Hgene | CSTB | C1384406 | Secretory meningioma | 1 | CTD_human |
| Hgene | CSTB | C1384408 | Microcystic meningioma | 1 | CTD_human |
| Hgene | CSTB | C1527197 | Angioblastic Meningioma | 1 | CTD_human |
| Hgene | CSTB | C1565950 | Posterior Fossa Meningioma | 1 | CTD_human |
| Hgene | CSTB | C1565951 | Sphenoid Wing Meningioma | 1 | CTD_human |
| Hgene | CSTB | C1621958 | Glioblastoma Multiforme | 1 | CTD_human |
| Hgene | CSTB | C3163622 | Papillary Meningioma | 1 | CTD_human |
| Hgene | CSTB | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |
| Tgene | KRT5 | C0080333 | Weber-Cockayne Syndrome | 15 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | KRT5 | C0079295 | Epidermolysis Bullosa Herpetiformis Dowling-Meara | 10 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | KRT5 | C0079299 | Epidermolysis Bullosa Simplex Kobner | 7 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | KRT5 | C0432316 | Epidermolysis bullosa simplex with mottled pigmentation | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | KRT5 | C1368275 | Pigmented Basal Cell Carcinoma | 2 | CTD_human |
| Tgene | KRT5 | C4721806 | Carcinoma, Basal Cell | 2 | CTD_human |
| Tgene | KRT5 | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
| Tgene | KRT5 | C0007097 | Carcinoma | 1 | CTD_human |
| Tgene | KRT5 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Tgene | KRT5 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Tgene | KRT5 | C0014527 | Epidermolysis Bullosa | 1 | GENOMICS_ENGLAND |
| Tgene | KRT5 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Tgene | KRT5 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Tgene | KRT5 | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
| Tgene | KRT5 | C0205696 | Anaplastic carcinoma | 1 | CTD_human |
| Tgene | KRT5 | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human |
| Tgene | KRT5 | C0205698 | Undifferentiated carcinoma | 1 | CTD_human |
| Tgene | KRT5 | C0205699 | Carcinomatosis | 1 | CTD_human |
| Tgene | KRT5 | C0220636 | Malignant neoplasm of salivary gland | 1 | CTD_human |
| Tgene | KRT5 | C0678222 | Breast Carcinoma | 1 | CTD_human |
| Tgene | KRT5 | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
| Tgene | KRT5 | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
| Tgene | KRT5 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | KRT5 | C1836284 | Epidermolysis Bullosa Simplex with Migratory Circinate Erythema | 1 | CTD_human;ORPHANET |
| Tgene | KRT5 | C3714534 | dowling-degos disease | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Tgene | KRT5 | C3715082 | EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 | 1 | UNIPROT |
| Tgene | KRT5 | C4552092 | Dowling-Degos disease 1 | 1 | CTD_human;GENOMICS_ENGLAND |
| Tgene | KRT5 | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
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