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Fusion gene ID: 8896 |
FusionGeneSummary for CTSB_DEFB136 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CTSB_DEFB136 | Fusion gene ID: 8896 | Hgene | Tgene | Gene symbol | CTSB | DEFB136 | Gene ID | 1508 | 613210 |
| Gene name | cathepsin B | defensin beta 136 | |
| Synonyms | APPS|CPSB | DEFB137 | |
| Cytomap | 8p23.1 | 8p23.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cathepsin BAPP secretaseamyloid precursor protein secretasecathepsin B1cysteine protease | beta-defensin 136beta-defensin 137 | |
| Modification date | 20180523 | 20180329 | |
| UniProtAcc | P07858 | Q30KP8 | |
| Ensembl transtripts involved in fusion gene | ENST00000434271, ENST00000353047, ENST00000530640, ENST00000531089, ENST00000453527, ENST00000415599, ENST00000345125, ENST00000533455, ENST00000534510, ENST00000525076, | ENST00000382209, | |
| Fusion gene scores | * DoF score | 12 X 7 X 6=504 | 1 X 1 X 1=1 |
| # samples | 14 | 1 | |
| ** MAII score | log2(14/504*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: CTSB [Title/Abstract] AND DEFB136 [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 |
| Hgene | CTSB | GO:0006508 | proteolysis | 7890620|8811434 |
| Hgene | CTSB | GO:0030574 | collagen catabolic process | 22952693 |
| Hgene | CTSB | GO:0051603 | proteolysis involved in cellular protein catabolic process | 22952693 |
| 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 | LD | LUSC | TCGA-21-1082-01A | CTSB | chr8 | 11706555 | - | DEFB136 | chr8 | 11831627 | - |
| * 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 |
| Frame-shift | ENST00000434271 | ENST00000382209 | CTSB | chr8 | 11706555 | - | DEFB136 | chr8 | 11831627 | - |
| Frame-shift | ENST00000353047 | ENST00000382209 | CTSB | chr8 | 11706555 | - | DEFB136 | chr8 | 11831627 | - |
| Frame-shift | ENST00000530640 | ENST00000382209 | CTSB | chr8 | 11706555 | - | DEFB136 | chr8 | 11831627 | - |
| In-frame | ENST00000531089 | ENST00000382209 | CTSB | chr8 | 11706555 | - | DEFB136 | chr8 | 11831627 | - |
| In-frame | ENST00000453527 | ENST00000382209 | CTSB | chr8 | 11706555 | - | DEFB136 | chr8 | 11831627 | - |
| intron-3CDS | ENST00000415599 | ENST00000382209 | CTSB | chr8 | 11706555 | - | DEFB136 | chr8 | 11831627 | - |
| In-frame | ENST00000345125 | ENST00000382209 | CTSB | chr8 | 11706555 | - | DEFB136 | chr8 | 11831627 | - |
| Frame-shift | ENST00000533455 | ENST00000382209 | CTSB | chr8 | 11706555 | - | DEFB136 | chr8 | 11831627 | - |
| In-frame | ENST00000534510 | ENST00000382209 | CTSB | chr8 | 11706555 | - | DEFB136 | chr8 | 11831627 | - |
| 5UTR-3CDS | ENST00000525076 | ENST00000382209 | CTSB | chr8 | 11706555 | - | DEFB136 | chr8 | 11831627 | - |
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FusionProtFeatures for CTSB_DEFB136 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CTSB | DEFB136 |
| Thiol protease which is believed to participate inintracellular degradation and turnover of proteins. Has also beenimplicated in tumor invasion and metastasis. | Has antibacterial activity. {ECO:0000305}. |
| 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 CTSB_DEFB136 |
| 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. |
| >In-frame_CTSB_ENST00000531089_chr8_11706555_-_DEFB136_ENST00000382209_chr8_11831627_-_209aa MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKLPASFDAREQW PQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGKRYVWEXWSQSSHLHXPESRMFLRVSARIQV >In-frame_CTSB_ENST00000453527_chr8_11706555_-_DEFB136_ENST00000382209_chr8_11831627_-_209aa MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKLPASFDAREQW PQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGKRYVWEXWSQSSHLHXPESRMFLRVSARIQV >In-frame_CTSB_ENST00000345125_chr8_11706555_-_DEFB136_ENST00000382209_chr8_11831627_-_209aa MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKLPASFDAREQW PQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGKRYVWEXWSQSSHLHXPESRMFLRVSARIQV >In-frame_CTSB_ENST00000534510_chr8_11706555_-_DEFB136_ENST00000382209_chr8_11831627_-_209aa MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKLPASFDAREQW PQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGKRYVWEXWSQSSHLHXPESRMFLRVSARIQV |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_CTSB_ENST00000531089_chr8_11706555_-_DEFB136_ENST00000382209_chr8_11831627_-_628nt ATGTGGCAGCTCTGGGCCTCCCTCTGCTGCCTGCTGGTGTTGGCCAATGCCCGGAGCAGGCCCTCTTTCCATCCCCTGTCGGATGAGCTG GTCAACTATGTCAACAAACGGAATACCACGTGGCAGGCCGGGCACAACTTCTACAACGTGGACATGAGCTACTTGAAGAGGCTATGTGGT ACCTTCCTGGGTGGGCCCAAGCCACCCCAGAGAGTTATGTTTACCGAGGACCTGAAGCTGCCTGCAAGCTTCGATGCACGGGAACAATGG CCACAGTGTCCCACCATCAAAGAGATCAGAGACCAGGGCTCCTGTGGCTCCTGCTGGGCCTTCGGGGCTGTGGAAGCCATCTCTGACCGG ATCTGCATCCACACCAATGCGCACGTCAGCGTGGAGGTGTCGGCGGAGGACCTGCTCACATGCTGTGGCAGCATGTGTGGGGACGGGAAA AGGTATGTTTGGGAATGATGGAGTCAAAGTTCGCACCTGCACTAGCCAGAAAGCCGTATGTTTCTTCGGGTGTCCGCCAGGATACAGGTG >In-frame_CTSB_ENST00000453527_chr8_11706555_-_DEFB136_ENST00000382209_chr8_11831627_-_628nt ATGTGGCAGCTCTGGGCCTCCCTCTGCTGCCTGCTGGTGTTGGCCAATGCCCGGAGCAGGCCCTCTTTCCATCCCCTGTCGGATGAGCTG GTCAACTATGTCAACAAACGGAATACCACGTGGCAGGCCGGGCACAACTTCTACAACGTGGACATGAGCTACTTGAAGAGGCTATGTGGT ACCTTCCTGGGTGGGCCCAAGCCACCCCAGAGAGTTATGTTTACCGAGGACCTGAAGCTGCCTGCAAGCTTCGATGCACGGGAACAATGG CCACAGTGTCCCACCATCAAAGAGATCAGAGACCAGGGCTCCTGTGGCTCCTGCTGGGCCTTCGGGGCTGTGGAAGCCATCTCTGACCGG ATCTGCATCCACACCAATGCGCACGTCAGCGTGGAGGTGTCGGCGGAGGACCTGCTCACATGCTGTGGCAGCATGTGTGGGGACGGGAAA AGGTATGTTTGGGAATGATGGAGTCAAAGTTCGCACCTGCACTAGCCAGAAAGCCGTATGTTTCTTCGGGTGTCCGCCAGGATACAGGTG >In-frame_CTSB_ENST00000345125_chr8_11706555_-_DEFB136_ENST00000382209_chr8_11831627_-_628nt ATGTGGCAGCTCTGGGCCTCCCTCTGCTGCCTGCTGGTGTTGGCCAATGCCCGGAGCAGGCCCTCTTTCCATCCCCTGTCGGATGAGCTG GTCAACTATGTCAACAAACGGAATACCACGTGGCAGGCCGGGCACAACTTCTACAACGTGGACATGAGCTACTTGAAGAGGCTATGTGGT ACCTTCCTGGGTGGGCCCAAGCCACCCCAGAGAGTTATGTTTACCGAGGACCTGAAGCTGCCTGCAAGCTTCGATGCACGGGAACAATGG CCACAGTGTCCCACCATCAAAGAGATCAGAGACCAGGGCTCCTGTGGCTCCTGCTGGGCCTTCGGGGCTGTGGAAGCCATCTCTGACCGG ATCTGCATCCACACCAATGCGCACGTCAGCGTGGAGGTGTCGGCGGAGGACCTGCTCACATGCTGTGGCAGCATGTGTGGGGACGGGAAA AGGTATGTTTGGGAATGATGGAGTCAAAGTTCGCACCTGCACTAGCCAGAAAGCCGTATGTTTCTTCGGGTGTCCGCCAGGATACAGGTG >In-frame_CTSB_ENST00000534510_chr8_11706555_-_DEFB136_ENST00000382209_chr8_11831627_-_628nt ATGTGGCAGCTCTGGGCCTCCCTCTGCTGCCTGCTGGTGTTGGCCAATGCCCGGAGCAGGCCCTCTTTCCATCCCCTGTCGGATGAGCTG GTCAACTATGTCAACAAACGGAATACCACGTGGCAGGCCGGGCACAACTTCTACAACGTGGACATGAGCTACTTGAAGAGGCTATGTGGT ACCTTCCTGGGTGGGCCCAAGCCACCCCAGAGAGTTATGTTTACCGAGGACCTGAAGCTGCCTGCAAGCTTCGATGCACGGGAACAATGG CCACAGTGTCCCACCATCAAAGAGATCAGAGACCAGGGCTCCTGTGGCTCCTGCTGGGCCTTCGGGGCTGTGGAAGCCATCTCTGACCGG ATCTGCATCCACACCAATGCGCACGTCAGCGTGGAGGTGTCGGCGGAGGACCTGCTCACATGCTGTGGCAGCATGTGTGGGGACGGGAAA AGGTATGTTTGGGAATGATGGAGTCAAAGTTCGCACCTGCACTAGCCAGAAAGCCGTATGTTTCTTCGGGTGTCCGCCAGGATACAGGTG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_CTSB_ENST00000531089_chr8_11706555_-_DEFB136_ENST00000382209_chr8_11831627_-_853nt GGCCGGGGCTGGCCCAGGCTACGGCGGCTGCAGGGCTCCGGCAACCGCTCCGGCAACGCCAACCGCTCCGCTGCGCGCAGGCTGGGCTGC AGGCTCTCGGCTGCAGCGCTGGGCTGGTGTGCAGTGGTGCGACCACGGCTCACGGCAGCCTCAGCCACCCAGATGTAAGCGATCTGGTTC CCACCTCAGCCTCCCGAGTAGTGGATCTAGGATCCGGCTTCCAACATGTGGCAGCTCTGGGCCTCCCTCTGCTGCCTGCTGGTGTTGGCC AATGCCCGGAGCAGGCCCTCTTTCCATCCCCTGTCGGATGAGCTGGTCAACTATGTCAACAAACGGAATACCACGTGGCAGGCCGGGCAC AACTTCTACAACGTGGACATGAGCTACTTGAAGAGGCTATGTGGTACCTTCCTGGGTGGGCCCAAGCCACCCCAGAGAGTTATGTTTACC GAGGACCTGAAGCTGCCTGCAAGCTTCGATGCACGGGAACAATGGCCACAGTGTCCCACCATCAAAGAGATCAGAGACCAGGGCTCCTGT GGCTCCTGCTGGGCCTTCGGGGCTGTGGAAGCCATCTCTGACCGGATCTGCATCCACACCAATGCGCACGTCAGCGTGGAGGTGTCGGCG GAGGACCTGCTCACATGCTGTGGCAGCATGTGTGGGGACGGGAAAAGGTATGTTTGGGAATGATGGAGTCAAAGTTCGCACCTGCACTAG CCAGAAAGCCGTATGTTTCTTCGGGTGTCCGCCAGGATACAGGTGGATTGCGTTCTGCCACAATATTCTGTCTTGCTGTAAAAATATGAC >In-frame_CTSB_ENST00000453527_chr8_11706555_-_DEFB136_ENST00000382209_chr8_11831627_-_814nt GGCTGCAGGGCTCCGGCAACCGCTCCGGCAACGCCAACCGCTCCGCTGCGCGCAGGCTGGGCTGCAGGCTCTCGGCTGCAGCGCTGGGTG TCTTCAGGCCTATGGAGAGCAGCTTGCGTGGGCTGGGCCTGCAGTACCTGGTTTGCATAGATGATTGGCAGGTGGATCTAGGATCCGGCT TCCAACATGTGGCAGCTCTGGGCCTCCCTCTGCTGCCTGCTGGTGTTGGCCAATGCCCGGAGCAGGCCCTCTTTCCATCCCCTGTCGGAT GAGCTGGTCAACTATGTCAACAAACGGAATACCACGTGGCAGGCCGGGCACAACTTCTACAACGTGGACATGAGCTACTTGAAGAGGCTA TGTGGTACCTTCCTGGGTGGGCCCAAGCCACCCCAGAGAGTTATGTTTACCGAGGACCTGAAGCTGCCTGCAAGCTTCGATGCACGGGAA CAATGGCCACAGTGTCCCACCATCAAAGAGATCAGAGACCAGGGCTCCTGTGGCTCCTGCTGGGCCTTCGGGGCTGTGGAAGCCATCTCT GACCGGATCTGCATCCACACCAATGCGCACGTCAGCGTGGAGGTGTCGGCGGAGGACCTGCTCACATGCTGTGGCAGCATGTGTGGGGAC GGGAAAAGGTATGTTTGGGAATGATGGAGTCAAAGTTCGCACCTGCACTAGCCAGAAAGCCGTATGTTTCTTCGGGTGTCCGCCAGGATA CAGGTGGATTGCGTTCTGCCACAATATTCTGTCTTGCTGTAAAAATATGACACGTTTTCAACCCCCGCAAGCCAAAGATCCATGGGTTCA >In-frame_CTSB_ENST00000345125_chr8_11706555_-_DEFB136_ENST00000382209_chr8_11831627_-_851nt GGCTCCGGCAACCGCTCCGGCAACGCCAACCGCTCCGCTGCGCGCAGGCTGGGCTGCAGGCTCTCGGCTGCAGCGCTGGGTGTCTTCAGG CCTATGGAGAGCAGCTTGCGTGGGCTGGGCCTGCAGTACCTGGTTTGCATAGATGATTGGCAGGTGGGCAGCACGGGGAAGGACCTGTGA GTGGCCAACCTGGTTCAGGTGGATCTAGGATCCGGCTTCCAACATGTGGCAGCTCTGGGCCTCCCTCTGCTGCCTGCTGGTGTTGGCCAA TGCCCGGAGCAGGCCCTCTTTCCATCCCCTGTCGGATGAGCTGGTCAACTATGTCAACAAACGGAATACCACGTGGCAGGCCGGGCACAA CTTCTACAACGTGGACATGAGCTACTTGAAGAGGCTATGTGGTACCTTCCTGGGTGGGCCCAAGCCACCCCAGAGAGTTATGTTTACCGA GGACCTGAAGCTGCCTGCAAGCTTCGATGCACGGGAACAATGGCCACAGTGTCCCACCATCAAAGAGATCAGAGACCAGGGCTCCTGTGG CTCCTGCTGGGCCTTCGGGGCTGTGGAAGCCATCTCTGACCGGATCTGCATCCACACCAATGCGCACGTCAGCGTGGAGGTGTCGGCGGA GGACCTGCTCACATGCTGTGGCAGCATGTGTGGGGACGGGAAAAGGTATGTTTGGGAATGATGGAGTCAAAGTTCGCACCTGCACTAGCC AGAAAGCCGTATGTTTCTTCGGGTGTCCGCCAGGATACAGGTGGATTGCGTTCTGCCACAATATTCTGTCTTGCTGTAAAAATATGACAC >In-frame_CTSB_ENST00000534510_chr8_11706555_-_DEFB136_ENST00000382209_chr8_11831627_-_842nt GGCTGGCCCAGGCTACGGCGGCTGCAGGGCTCCGGCAACCGCTCCGGCAACGCCAACCGCTCCGCTGCGCGCAGGCTGGGCTGCAGGCTC TCGGCTGCAGCGCTGGCACGCTGGCGGCCCCTTGAGCCCCAACCTGGATACCATAGGGGAGGAGCAGAGAAGCCAGGAACACCACAGCCC TGGGCCAAGGTGGATCTAGGATCCGGCTTCCAACATGTGGCAGCTCTGGGCCTCCCTCTGCTGCCTGCTGGTGTTGGCCAATGCCCGGAG CAGGCCCTCTTTCCATCCCCTGTCGGATGAGCTGGTCAACTATGTCAACAAACGGAATACCACGTGGCAGGCCGGGCACAACTTCTACAA CGTGGACATGAGCTACTTGAAGAGGCTATGTGGTACCTTCCTGGGTGGGCCCAAGCCACCCCAGAGAGTTATGTTTACCGAGGACCTGAA GCTGCCTGCAAGCTTCGATGCACGGGAACAATGGCCACAGTGTCCCACCATCAAAGAGATCAGAGACCAGGGCTCCTGTGGCTCCTGCTG GGCCTTCGGGGCTGTGGAAGCCATCTCTGACCGGATCTGCATCCACACCAATGCGCACGTCAGCGTGGAGGTGTCGGCGGAGGACCTGCT CACATGCTGTGGCAGCATGTGTGGGGACGGGAAAAGGTATGTTTGGGAATGATGGAGTCAAAGTTCGCACCTGCACTAGCCAGAAAGCCG TATGTTTCTTCGGGTGTCCGCCAGGATACAGGTGGATTGCGTTCTGCCACAATATTCTGTCTTGCTGTAAAAATATGACACGTTTTCAAC |
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FusionGenePPI for CTSB_DEFB136 |
| 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 |
| CTSB | CSTA, CSTB, CST3, BAG6, S100A10, ANXA2, UBQLN4, USP29, DMWD, FAM118B, SPRY2, CDKN1A, RGS2, ANXA7, SH3KBP1, APP, PROCR, PARP1, MLH1, METTL21B, HNRNPD, XRN1, HIPK4, CDK18, FBXO6, IRS4, UNK, MSI2, HSPB2, STK11, CEP164, FBF1, RPGRIP1L, SCLT1, CDH1, PTPN18, NR3C1, TRIM25 | DEFB136 |
| - 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 CTSB_DEFB136 |
| 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 CTSB_DEFB136 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CTSB | C0027626 | Neoplasm Invasiveness | 2 | CTD_human |
| Hgene | CTSB | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | CTSB | C0017636 | Glioblastoma | 1 | CTD_human |
| Hgene | CTSB | C0026848 | Myopathy | 1 | CTD_human |
| Hgene | CTSB | C0027540 | Necrosis | 1 | CTD_human |
| Hgene | CTSB | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | CTSB | C0033687 | Proteinuria | 1 | CTD_human |
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