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Fusion gene ID: 5602 |
FusionGeneSummary for CASP6_ACADSB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CASP6_ACADSB | Fusion gene ID: 5602 | Hgene | Tgene | Gene symbol | CASP6 | ACADSB | Gene ID | 839 | 36 |
| Gene name | caspase 6 | acyl-CoA dehydrogenase short/branched chain | |
| Synonyms | MCH2 | 2-MEBCAD|ACAD7|SBCAD | |
| Cytomap | 4q25 | 10q26.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | caspase-6apoptotic protease MCH-2caspase 6, apoptosis-related cysteine peptidasecaspase 6, apoptosis-related cysteine protease | short/branched chain specific acyl-CoA dehydrogenase, mitochondrial2-methyl branched chain acyl-CoA dehydrogenase2-methylbutyryl-coenzyme A dehydrogenaseacyl-Coenzyme A dehydrogenase, short/branched chain | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P55212 | P45954 | |
| Ensembl transtripts involved in fusion gene | ENST00000352981, ENST00000265164, ENST00000510324, ENST00000505486, | ENST00000368869, ENST00000358776, ENST00000496730, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 1=4 |
| # samples | 1 | 2 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: CASP6 [Title/Abstract] AND ACADSB [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 | CASP6 | GO:0006508 | proteolysis | 12888622 |
| 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 | BE567326 | CASP6 | chr4 | 110610562 | - | ACADSB | chr10 | 124813793 | + |
| * 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-intron | ENST00000352981 | ENST00000368869 | CASP6 | chr4 | 110610562 | - | ACADSB | chr10 | 124813793 | + |
| intron-3UTR | ENST00000352981 | ENST00000358776 | CASP6 | chr4 | 110610562 | - | ACADSB | chr10 | 124813793 | + |
| intron-intron | ENST00000352981 | ENST00000496730 | CASP6 | chr4 | 110610562 | - | ACADSB | chr10 | 124813793 | + |
| intron-intron | ENST00000265164 | ENST00000368869 | CASP6 | chr4 | 110610562 | - | ACADSB | chr10 | 124813793 | + |
| intron-3UTR | ENST00000265164 | ENST00000358776 | CASP6 | chr4 | 110610562 | - | ACADSB | chr10 | 124813793 | + |
| intron-intron | ENST00000265164 | ENST00000496730 | CASP6 | chr4 | 110610562 | - | ACADSB | chr10 | 124813793 | + |
| intron-intron | ENST00000510324 | ENST00000368869 | CASP6 | chr4 | 110610562 | - | ACADSB | chr10 | 124813793 | + |
| intron-3UTR | ENST00000510324 | ENST00000358776 | CASP6 | chr4 | 110610562 | - | ACADSB | chr10 | 124813793 | + |
| intron-intron | ENST00000510324 | ENST00000496730 | CASP6 | chr4 | 110610562 | - | ACADSB | chr10 | 124813793 | + |
| intron-intron | ENST00000505486 | ENST00000368869 | CASP6 | chr4 | 110610562 | - | ACADSB | chr10 | 124813793 | + |
| intron-3UTR | ENST00000505486 | ENST00000358776 | CASP6 | chr4 | 110610562 | - | ACADSB | chr10 | 124813793 | + |
| intron-intron | ENST00000505486 | ENST00000496730 | CASP6 | chr4 | 110610562 | - | ACADSB | chr10 | 124813793 | + |
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FusionProtFeatures for CASP6_ACADSB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CASP6 | ACADSB |
| Involved in the activation cascade of caspasesresponsible for apoptosis execution. Cleaves poly(ADP-ribose)polymerase in vitro, as well as lamins. Overexpression promotesprogrammed cell death. | Has greatest activity toward short branched chain acyl-CoA derivative such as (s)-2-methylbutyryl-CoA, isobutyryl-CoA,and 2-methylhexanoyl-CoA as well as toward short straight chainacyl-CoAs such as butyryl-CoA and hexanoyl-CoA. Can use valproyl-CoA as substrate and may play a role in controlling the metabolicflux of valproic acid in the development of toxicity of thisagent. |
| 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 CASP6_ACADSB |
| 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 CASP6_ACADSB |
| 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 CASP6_ACADSB |
| 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 |
| Tgene | ACADSB | P45954 | DB00313 | Valproic Acid | Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial | small molecule | approved|investigational |
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RelatedDiseases for CASP6_ACADSB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ACADSB | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | ACADSB | C1864912 | 2-Methylbutyryl-CoA Dehydrogenase Deficiency | 1 | CTD_human;ORPHANET;UNIPROT |
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