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Fusion gene ID: 3846 |
FusionGeneSummary for BAX_DHDH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BAX_DHDH | Fusion gene ID: 3846 | Hgene | Tgene | Gene symbol | BAX | DHDH | Gene ID | 581 | 27294 |
| Gene name | BCL2 associated X, apoptosis regulator | dihydrodiol dehydrogenase | |
| Synonyms | BCL2L4 | 2DD|HUM2DD | |
| Cytomap | 19q13.33 | 19q13.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | apoptosis regulator BAXBCL2 associated X proteinBCL2-associated X protein omegaBaxdelta2G9Baxdelta2G9omegaBaxdelta2omegabcl-2-like protein 4bcl2-L-4 | trans-1,2-dihydrobenzene-1,2-diol dehydrogenase3-deoxyglucosone reductaseD-xylose 1-dehydrogenaseD-xylose-NADP dehydrogenasedihydrodiol dehydrogenase (dimeric) | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | Q07812 | Q9UQ10 | |
| Ensembl transtripts involved in fusion gene | ENST00000539787, ENST00000345358, ENST00000391871, ENST00000415969, ENST00000354470, ENST00000293288, | ENST00000221403, ENST00000523250, ENST00000522614, | |
| Fusion gene scores | * DoF score | 5 X 3 X 4=60 | 3 X 2 X 2=12 |
| # samples | 5 | 3 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: BAX [Title/Abstract] AND DHDH [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | BAX | GO:0001783 | B cell apoptotic process | 15214043|16424160 |
| Hgene | BAX | GO:0001836 | release of cytochrome c from mitochondria | 9843949|16199525|17052454 |
| Hgene | BAX | GO:0006915 | apoptotic process | 9660918 |
| Hgene | BAX | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 11912183 |
| Hgene | BAX | GO:0008053 | mitochondrial fusion | 14769861 |
| Hgene | BAX | GO:0008635 | activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c | 15214043 |
| Hgene | BAX | GO:0008637 | apoptotic mitochondrial changes | 9843949 |
| Hgene | BAX | GO:0009636 | response to toxic substance | 16307838 |
| Hgene | BAX | GO:0010248 | establishment or maintenance of transmembrane electrochemical gradient | 9843949 |
| Hgene | BAX | GO:0032091 | negative regulation of protein binding | 9388232 |
| Hgene | BAX | GO:0032461 | positive regulation of protein oligomerization | 19805544 |
| Hgene | BAX | GO:0032976 | release of matrix enzymes from mitochondria | 9843949 |
| Hgene | BAX | GO:0043065 | positive regulation of apoptotic process | 17464193 |
| Hgene | BAX | GO:0043496 | regulation of protein homodimerization activity | 9111042 |
| Hgene | BAX | GO:0043525 | positive regulation of neuron apoptotic process | 15637643 |
| Hgene | BAX | GO:0043653 | mitochondrial fragmentation involved in apoptotic process | 12499352 |
| Hgene | BAX | GO:0051259 | protein complex oligomerization | 19074440 |
| Hgene | BAX | GO:0051260 | protein homooligomerization | 14522999|19767770 |
| Hgene | BAX | GO:0051881 | regulation of mitochondrial membrane potential | 9843949 |
| Hgene | BAX | GO:0090200 | positive regulation of release of cytochrome c from mitochondria | 14963330 |
| Hgene | BAX | GO:0097190 | apoptotic signaling pathway | 16424160 |
| Hgene | BAX | GO:0097191 | extrinsic apoptotic signaling pathway | 15214043 |
| Hgene | BAX | GO:0097193 | intrinsic apoptotic signaling pathway | 9219694|16462759 |
| Hgene | BAX | GO:1990117 | B cell receptor apoptotic signaling pathway | 15214043 |
| 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 | BRCA | TCGA-EW-A2FS-01A | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| * 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 |
| In-frame | ENST00000539787 | ENST00000221403 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| In-frame | ENST00000539787 | ENST00000523250 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| In-frame | ENST00000539787 | ENST00000522614 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| In-frame | ENST00000345358 | ENST00000221403 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| In-frame | ENST00000345358 | ENST00000523250 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| In-frame | ENST00000345358 | ENST00000522614 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| 3UTR-3CDS | ENST00000391871 | ENST00000221403 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| 3UTR-3CDS | ENST00000391871 | ENST00000523250 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| 3UTR-3CDS | ENST00000391871 | ENST00000522614 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| In-frame | ENST00000415969 | ENST00000221403 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| In-frame | ENST00000415969 | ENST00000523250 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| In-frame | ENST00000415969 | ENST00000522614 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| In-frame | ENST00000354470 | ENST00000221403 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| In-frame | ENST00000354470 | ENST00000523250 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| In-frame | ENST00000354470 | ENST00000522614 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| In-frame | ENST00000293288 | ENST00000221403 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| In-frame | ENST00000293288 | ENST00000523250 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
| In-frame | ENST00000293288 | ENST00000522614 | BAX | chr19 | 49459590 | + | DHDH | chr19 | 49438257 | + |
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FusionProtFeatures for BAX_DHDH |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BAX | DHDH |
| 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 |
| Hgene | BAX | chr19:49459590 | chr19:49438257 | ENST00000293288 | + | 4 | 5 | 59_73 | 123 | 219 | Motif | Note=BH3 |
| Hgene | BAX | chr19:49459590 | chr19:49438257 | ENST00000293288 | + | 4 | 5 | 98_118 | 123 | 219 | Motif | Note=BH1 |
| Hgene | BAX | chr19:49459590 | chr19:49438257 | ENST00000345358 | + | 4 | 6 | 59_73 | 123 | 193 | Motif | Note=BH3 |
| Hgene | BAX | chr19:49459590 | chr19:49438257 | ENST00000345358 | + | 4 | 6 | 98_118 | 123 | 193 | Motif | Note=BH1 |
| Hgene | BAX | chr19:49459590 | chr19:49438257 | ENST00000354470 | + | 3 | 5 | 59_73 | 74 | 144 | Motif | Note=BH3 |
| Hgene | BAX | chr19:49459590 | chr19:49438257 | ENST00000391871 | + | 3 | 5 | 150_165 | 105 | 88 | Motif | Note=BH2 |
| Hgene | BAX | chr19:49459590 | chr19:49438257 | ENST00000391871 | + | 3 | 5 | 59_73 | 105 | 88 | Motif | Note=BH3 |
| Hgene | BAX | chr19:49459590 | chr19:49438257 | ENST00000391871 | + | 3 | 5 | 98_118 | 105 | 88 | Motif | Note=BH1 |
| Hgene | BAX | chr19:49459590 | chr19:49438257 | ENST00000415969 | + | 4 | 6 | 59_73 | 123 | 180 | Motif | Note=BH3 |
| Hgene | BAX | chr19:49459590 | chr19:49438257 | ENST00000415969 | + | 4 | 6 | 98_118 | 123 | 180 | Motif | Note=BH1 |
| Hgene | BAX | chr19:49459590 | chr19:49438257 | ENST00000539787 | + | 4 | 7 | 59_73 | 123 | 205 | Motif | Note=BH3 |
| Hgene | BAX | chr19:49459590 | chr19:49438257 | ENST00000539787 | + | 4 | 7 | 98_118 | 123 | 205 | Motif | Note=BH1 |
| Hgene | BAX | chr19:49459590 | chr19:49438257 | ENST00000391871 | + | 3 | 5 | 172_192 | 105 | 88 | Transmembrane | Helical |
| - 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 |
| Hgene | >BAX | chr19:49459590 | chr19:49438257 | ENST00000293288 | + | 4 | 5 | 150_165 | 123 | 219 | Motif | Note=BH2 |
| Hgene | >BAX | chr19:49459590 | chr19:49438257 | ENST00000345358 | + | 4 | 6 | 150_165 | 123 | 193 | Motif | Note=BH2 |
| Hgene | >BAX | chr19:49459590 | chr19:49438257 | ENST00000354470 | + | 3 | 5 | 150_165 | 74 | 144 | Motif | Note=BH2 |
| Hgene | >BAX | chr19:49459590 | chr19:49438257 | ENST00000354470 | + | 3 | 5 | 98_118 | 74 | 144 | Motif | Note=BH1 |
| Hgene | >BAX | chr19:49459590 | chr19:49438257 | ENST00000415969 | + | 4 | 6 | 150_165 | 123 | 180 | Motif | Note=BH2 |
| Hgene | >BAX | chr19:49459590 | chr19:49438257 | ENST00000539787 | + | 4 | 7 | 150_165 | 123 | 205 | Motif | Note=BH2 |
| Hgene | >BAX | chr19:49459590 | chr19:49438257 | ENST00000293288 | + | 4 | 5 | 172_192 | 123 | 219 | Transmembrane | Helical |
| Hgene | >BAX | chr19:49459590 | chr19:49438257 | ENST00000345358 | + | 4 | 6 | 172_192 | 123 | 193 | Transmembrane | Helical |
| Hgene | >BAX | chr19:49459590 | chr19:49438257 | ENST00000354470 | + | 3 | 5 | 172_192 | 74 | 144 | Transmembrane | Helical |
| Hgene | >BAX | chr19:49459590 | chr19:49438257 | ENST00000415969 | + | 4 | 6 | 172_192 | 123 | 180 | Transmembrane | Helical |
| Hgene | >BAX | chr19:49459590 | chr19:49438257 | ENST00000539787 | + | 4 | 7 | 172_192 | 123 | 205 | Transmembrane | Helical |
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FusionGeneSequence for BAX_DHDH |
| 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 BAX_DHDH |
| 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 |
| BAX | BCL2A1, PMAIP1, BCL2, BCL2L1, VDAC1, BCL2L10, YWHAQ, HSPD1, SH3GLB1, BAX, SLC25A4, MOAP1, MCL1, BAK1, BCL2L2, MEPCE, TOMM40, TOMM22, RNF144B, XRCC6, UHRF2, PARK7, PSMC3, PSMC5, HDAC6, BAD, XRCC5, CLU, KCNA3, XIAP, HSPA4, CRYAA, CRYAB, VCP, YWHAB, BAG3, ZBTB24, CASP9, CASP8, CASP7, CASP3, CYCS, GIMAP5, SEPT7, LRRK2, BCL2L12, BCL2L11, PKM, PCBP1, PRDX1, PRDX2, SERPINH1, ERCC6, LIG3, YY1, GEMIN2, PNPLA6, PRSS23, EDRF1, NIN, BDP1, NSFL1C, ATAD5, C18orf21, SERPINB12, BID, SNCA, TP53, COQ9, C15orf48, OCIAD1, PPM1J, BCL2L15, HSD17B10, ND5, TRIM25 | DHDH | CCDC12, TSC22D1 |
| - 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 BAX_DHDH |
| 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 BAX_DHDH |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BAX | C0027051 | Myocardial Infarction | 2 | CTD_human |
| Hgene | BAX | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| Hgene | BAX | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Hgene | BAX | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| Hgene | BAX | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Hgene | BAX | C0019693 | HIV Infections | 1 | CTD_human |
| Hgene | BAX | C0021364 | Male infertility | 1 | CTD_human |
| Hgene | BAX | C0021841 | Intestinal Neoplasms | 1 | CTD_human |
| Hgene | BAX | C0022116 | Ischemia | 1 | CTD_human |
| Hgene | BAX | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
| Hgene | BAX | C0027746 | Nerve Degeneration | 1 | CTD_human |
| Hgene | BAX | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| Hgene | BAX | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | BAX | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
| Hgene | BAX | C0920269 | Microsatellite Instability | 1 | CTD_human |
| Hgene | BAX | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Hgene | BAX | C2609414 | Acute kidney injury | 1 | CTD_human |
| Hgene | BAX | C2937358 | Cerebral Hemorrhage | 1 | CTD_human |
| Hgene | BAX | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
| Tgene | DHDH | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
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