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Fusion gene ID: 3885 |
FusionGeneSummary for BBOX1_KLK7 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BBOX1_KLK7 | Fusion gene ID: 3885 | Hgene | Tgene | Gene symbol | BBOX1 | KLK7 | Gene ID | 8424 | 5650 |
| Gene name | gamma-butyrobetaine hydroxylase 1 | kallikrein related peptidase 7 | |
| Synonyms | BBH|BBOX|G-BBH|gamma-BBH | PRSS6|SCCE|hK7 | |
| Cytomap | 11p14.2 | 19q13.41 | |
| Type of gene | protein-coding | protein-coding | |
| Description | gamma-butyrobetaine dioxygenasebutyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1gamma-butyrobetaine,2-oxoglutarate dioxygenase 1 | kallikrein-7kallikrein 7 (chymotryptic, stratum corneum)serine protease 6signal proteinstratum corneum chymotryptic enzyme | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O75936 | P49862 | |
| Ensembl transtripts involved in fusion gene | ENST00000529202, ENST00000263182, ENST00000528583, ENST00000525090, ENST00000527505, | ENST00000391807, ENST00000595820, ENST00000336317, ENST00000597707, ENST00000595638, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 2 X 2 X 2=8 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: BBOX1 [Title/Abstract] AND KLK7 [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 | BBOX1 | GO:0045329 | carnitine biosynthetic process | 9753662|20599753 |
| 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 |
| ChiTaRS3.1 | BF750399 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| * 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 |
| intron-3CDS | ENST00000529202 | ENST00000391807 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-3CDS | ENST00000529202 | ENST00000595820 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-5UTR | ENST00000529202 | ENST00000336317 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-5UTR | ENST00000529202 | ENST00000597707 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-intron | ENST00000529202 | ENST00000595638 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-3CDS | ENST00000263182 | ENST00000391807 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-3CDS | ENST00000263182 | ENST00000595820 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-5UTR | ENST00000263182 | ENST00000336317 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-5UTR | ENST00000263182 | ENST00000597707 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-intron | ENST00000263182 | ENST00000595638 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-3CDS | ENST00000528583 | ENST00000391807 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-3CDS | ENST00000528583 | ENST00000595820 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-5UTR | ENST00000528583 | ENST00000336317 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-5UTR | ENST00000528583 | ENST00000597707 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-intron | ENST00000528583 | ENST00000595638 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-3CDS | ENST00000525090 | ENST00000391807 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-3CDS | ENST00000525090 | ENST00000595820 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-5UTR | ENST00000525090 | ENST00000336317 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-5UTR | ENST00000525090 | ENST00000597707 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-intron | ENST00000525090 | ENST00000595638 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-3CDS | ENST00000527505 | ENST00000391807 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-3CDS | ENST00000527505 | ENST00000595820 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-5UTR | ENST00000527505 | ENST00000336317 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-5UTR | ENST00000527505 | ENST00000597707 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
| intron-intron | ENST00000527505 | ENST00000595638 | BBOX1 | chr11 | 27114184 | + | KLK7 | chr19 | 51483708 | + |
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FusionProtFeatures for BBOX1_KLK7 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BBOX1 | KLK7 |
| Catalyzes the formation of L-carnitine from gamma-butyrobetaine. | May catalyze the degradation of intercellular cohesivestructures in the cornified layer of the skin in the continuousshedding of cells from the skin surface. Specific for amino acidresidues with aromatic side chains in the P1 position. Cleavesinsulin A chain at '14-Tyr-|-Gln-15' and insulin B chain at '6-Leu-|-Cys-7', '16-Tyr-|-Leu-17', '25-Phe-|-Tyr-26' and '26-Tyr-|-Thr-27'. Could play a role in the activation of precursors toinflammatory cytokines. {ECO:0000269|PubMed:23370777}. |
| 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 BBOX1_KLK7 |
| 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. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for BBOX1_KLK7 |
| 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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RelatedDrugs for BBOX1_KLK7 |
| 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 |
| Hgene | BBOX1 | O75936 | DB00126 | Vitamin C | Gamma-butyrobetaine dioxygenase | small molecule | approved|nutraceutical |
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RelatedDiseases for BBOX1_KLK7 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BBOX1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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