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Fusion gene ID: 21355 |
FusionGeneSummary for MDH1_COMMD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MDH1_COMMD1 | Fusion gene ID: 21355 | Hgene | Tgene | Gene symbol | MDH1 | COMMD1 | Gene ID | 4190 | 150684 |
| Gene name | malate dehydrogenase 1 | copper metabolism domain containing 1 | |
| Synonyms | HEL-S-32|MDH-s|MDHA|MGC:1375|MOR2 | C2orf5|MURR1 | |
| Cytomap | 2p15 | 2p15 | |
| Type of gene | protein-coding | protein-coding | |
| Description | malate dehydrogenase, cytoplasmicmalate dehydrogenase, peroxisomalcytosolic malate dehydrogenasediiodophenylpyruvate reductaseepididymis secretory protein Li 32malate dehydrogenase 1, NAD (soluble)soluble malate dehydrogenase | COMM domain-containing protein 1copper metabolism (Murr1) domain containing 1copper metabolism gene MURR1protein Murr1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P40925 | Q8N668 | |
| Ensembl transtripts involved in fusion gene | ENST00000233114, ENST00000409908, ENST00000409476, ENST00000539945, ENST00000544381, ENST00000394423, ENST00000462944, | ENST00000472729, ENST00000311832, ENST00000538736, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 8 X 5 X 8=320 |
| # samples | 4 | 13 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(13/320*10)=-1.29956028185891 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MDH1 [Title/Abstract] AND COMMD1 [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 |
| Tgene | COMMD1 | GO:0031398 | positive regulation of protein ubiquitination | 17183367|21741370 |
| Tgene | COMMD1 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 15799966|16573520 |
| Tgene | COMMD1 | GO:0048227 | plasma membrane to endosome transport | 21741370 |
| Tgene | COMMD1 | GO:0055070 | copper ion homeostasis | 14685266 |
| Tgene | COMMD1 | GO:1902306 | negative regulation of sodium ion transmembrane transport | 14645214 |
| Tgene | COMMD1 | GO:2000009 | negative regulation of protein localization to cell surface | 21741370 |
| 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 | RV | BRCA | TCGA-A2-A04U-01A | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| * 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 |
| 5CDS-3UTR | ENST00000233114 | ENST00000472729 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| 5CDS-3UTR | ENST00000233114 | ENST00000311832 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| 5CDS-3UTR | ENST00000233114 | ENST00000538736 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| intron-3UTR | ENST00000409908 | ENST00000472729 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| intron-3UTR | ENST00000409908 | ENST00000311832 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| intron-3UTR | ENST00000409908 | ENST00000538736 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| intron-3UTR | ENST00000409476 | ENST00000472729 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| intron-3UTR | ENST00000409476 | ENST00000311832 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| intron-3UTR | ENST00000409476 | ENST00000538736 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| 5CDS-3UTR | ENST00000539945 | ENST00000472729 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| 5CDS-3UTR | ENST00000539945 | ENST00000311832 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| 5CDS-3UTR | ENST00000539945 | ENST00000538736 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| 5UTR-3UTR | ENST00000544381 | ENST00000472729 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| 5UTR-3UTR | ENST00000544381 | ENST00000311832 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| 5UTR-3UTR | ENST00000544381 | ENST00000538736 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| 5CDS-3UTR | ENST00000394423 | ENST00000472729 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| 5CDS-3UTR | ENST00000394423 | ENST00000311832 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| 5CDS-3UTR | ENST00000394423 | ENST00000538736 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| intron-3UTR | ENST00000462944 | ENST00000472729 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| intron-3UTR | ENST00000462944 | ENST00000311832 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
| intron-3UTR | ENST00000462944 | ENST00000538736 | MDH1 | chr2 | 63821720 | + | COMMD1 | chr2 | 62227836 | + |
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FusionProtFeatures for MDH1_COMMD1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MDH1 | COMMD1 |
| Proposed scaffold protein that is implicated in diversephysiological processes and whose function may be in part linkedto its ability to regulate ubiquitination of specific cellularproteins. Can modulate activity of cullin-RING E3 ubiquitin ligase(CRL) complexes by displacing CAND1; in vitro promotes CRL E3activity and dissociates CAND1 from CUL1 and CUL2(PubMed:21778237). Promotes ubiquitination of NF-kappa-B subunitRELA and its subsequent proteasomal degradation. Down-regulatesNF-kappa-B activity (PubMed:15799966, PubMed:17183367,PubMed:20048074). Involved in the regulation of membraneexpression and ubiquitination of SLC12A2 (PubMed:23515529).Modulates Na(+) transport in epithelial cells by regulation ofapical cell surface expression of amiloride-sensitive sodiumchannel (ENaC) subunits and by promoting their ubiquitinationpresumably involving NEDD4L. Promotes the localization of SCNN1Dto recycling endosomes (PubMed:14645214, PubMed:20237237,PubMed:21741370). Promotes CFTR cell surface expression throughregulation of its ubiquitination (PubMed:21483833). Down-regulatesSOD1 activity by interfering with its homodimerization(PubMed:20595380). Plays a role in copper ion homeostasis.Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function isproposed to depend on its association within the CCC complex andcooperation with the WASH complex on early endosomes(PubMed:25355947). Can bind one copper ion per monomer(PubMed:17309234). May function to facilitate biliary copperexcretion within hepatocytes. Binds to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) (PubMed:18940794). Involved in theregulation of HIF1A-mediated transcription; competes withARNT/Hif-1-beta for binding to HIF1A resulting in decreased DNAbinding and impaired transcriptional activation by HIF-1(PubMed:20458141). {ECO:0000269|PubMed:14645214,ECO:0000269|PubMed:14685266, ECO:0000269|PubMed:15799966,ECO:0000269|PubMed:16573520, ECO:0000269|PubMed:17183367,ECO:0000269|PubMed:17309234, ECO:0000269|PubMed:20048074,ECO:0000269|PubMed:20237237, ECO:0000269|PubMed:20458141,ECO:0000269|PubMed:20595380, ECO:0000269|PubMed:21483833,ECO:0000269|PubMed:21741370, ECO:0000269|PubMed:21778237,ECO:0000269|PubMed:23515529, ECO:0000269|PubMed:25355947}. |
| 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 MDH1_COMMD1 |
| 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 MDH1_COMMD1 |
| 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 |
| MDH1 | MPP3, EGFR, TP53, TERF1, TERF2IP, AKT1, LDHA, SDHA, PRDX6, SLC9A3R1, PRDX5, ESD, PGM1, HSP90AA1, HSP90AB1, IQCB1, PARK2, FUS, GLRX, GOT1, HIBADH, LDHAL6A, LDHAL6B, LDHB, LDHC, OXCT1, SOD2, SPR, UQCRFS1, PDXK, PGM2, SCCPDH, NTRK1, HSPB2, MED20, HSD17B10, TRIM25, BRCA1, SERPINB5 | COMMD1 | NFKBIA, XIAP, SOCS1, CUL2, TCEB1, RELA, CUL1, CUL3, CUL4A, CUL4B, CUL5, CUL7, HIF1A, HSPA4, CLU, CFTR, SCNN1D, KAT2A, AKT1, SGK1, SCNN1B, SPP1, NAIP, BIRC3, CDKN2A, NMRAL1, SOD1, ATP7B, COMMD1, COMMD2, COMMD3, COMMD4, COMMD5, COMMD6, COMMD7, COMMD8, COMMD10, REL, RELB, NFKB1, NFKB2, SCNN1G, ATP7A, BARD1, BRCA1, LIG4, VCP, SLC12A2, CCDC22, BAHCC1, EP300, CCDC93, C16orf62, SCLT1, PARK2, FAM45A, COMMD9, DSCR3, E2F6, TFDP1, BCR, VPS29, VPS33B, STK11IP, TTF2, NFYC, KIF2B, FAM167A, TRIM16L, G6PD, ATAD3C, TBC1D4, RAD21, TRIM25, FAM107A |
| - 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 MDH1_COMMD1 |
| 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 | MDH1 | P40925 | DB11638 | Artenimol | Malate dehydrogenase, cytoplasmic | small molecule | approved|investigational |
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RelatedDiseases for MDH1_COMMD1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MDH1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | MDH1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | MDH1 | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
| Hgene | MDH1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | MDH1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
| Tgene | COMMD1 | C0019189 | Hepatitis, Chronic | 2 | CTD_human |
| Tgene | COMMD1 | C0020517 | Hypersensitivity | 1 | CTD_human |
| Tgene | COMMD1 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Tgene | COMMD1 | C0041755 | Adverse reaction to drug | 1 | CTD_human |
| Tgene | COMMD1 | C1876165 | Copper-Overload Cirrhosis | 1 | CTD_human |
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