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Fusion gene ID: 38289 |
FusionGeneSummary for TMC7_PARK7 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TMC7_PARK7 | Fusion gene ID: 38289 | Hgene | Tgene | Gene symbol | TMC7 | PARK7 | Gene ID | 79905 | 11315 |
| Gene name | transmembrane channel like 7 | Parkinsonism associated deglycase | |
| Synonyms | - | DJ-1|DJ1|GATD2|HEL-S-67p | |
| Cytomap | 16p12.3 | 1p36.23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transmembrane channel-like protein 7 | protein/nucleic acid deglycase DJ-1Parkinson disease (autosomal recessive, early onset) 7epididymis secretory sperm binding protein Li 67pmaillard deglycaseoncogene DJ1parkinson protein 7protein DJ-1protein deglycase DJ-1 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q7Z402 | Q99497 | |
| Ensembl transtripts involved in fusion gene | ENST00000569532, ENST00000304381, ENST00000421369, ENST00000561963, | ENST00000338639, ENST00000493678, ENST00000377493, ENST00000377491, ENST00000377488, ENST00000497113, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
| # samples | 1 | 1 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: TMC7 [Title/Abstract] AND PARK7 [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 | PARK7 | GO:0006281 | DNA repair | 28596309 |
| Tgene | PARK7 | GO:0006517 | protein deglycosylation | 25416785 |
| Tgene | PARK7 | GO:0006517 | protein deglycosylation | 27903648 |
| Tgene | PARK7 | GO:0009438 | methylglyoxal metabolic process | 22523093 |
| Tgene | PARK7 | GO:0009438 | methylglyoxal metabolic process | 27903648 |
| Tgene | PARK7 | GO:0010629 | negative regulation of gene expression | 22683601 |
| Tgene | PARK7 | GO:0019249 | lactate biosynthetic process | 22523093 |
| Tgene | PARK7 | GO:0031397 | negative regulation of protein ubiquitination | 17015834|24899725 |
| Tgene | PARK7 | GO:0032091 | negative regulation of protein binding | 11477070|16731528|17015834|24899725 |
| Tgene | PARK7 | GO:0032435 | negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 17015834 |
| Tgene | PARK7 | GO:0032757 | positive regulation of interleukin-8 production | 21097510 |
| Tgene | PARK7 | GO:0033234 | negative regulation of protein sumoylation | 16731528 |
| Tgene | PARK7 | GO:0034599 | cellular response to oxidative stress | 15983381|19703902|20969476|22683601 |
| Tgene | PARK7 | GO:0036471 | cellular response to glyoxal | 22523093 |
| Tgene | PARK7 | GO:0036526 | peptidyl-cysteine deglycation | 25416785 |
| Tgene | PARK7 | GO:0036527 | peptidyl-arginine deglycation | 25416785 |
| Tgene | PARK7 | GO:0036528 | peptidyl-lysine deglycation | 25416785 |
| Tgene | PARK7 | GO:0036529 | protein deglycation, glyoxal removal | 25416785 |
| Tgene | PARK7 | GO:0036530 | protein deglycation, methylglyoxal removal | 25416785 |
| Tgene | PARK7 | GO:0036530 | protein deglycation, methylglyoxal removal | 27903648 |
| Tgene | PARK7 | GO:0036531 | glutathione deglycation | 25416785 |
| Tgene | PARK7 | GO:0042743 | hydrogen peroxide metabolic process | 20969476|24567322 |
| Tgene | PARK7 | GO:0043066 | negative regulation of apoptotic process | 22523093 |
| Tgene | PARK7 | GO:0043523 | regulation of neuron apoptotic process | 18711745|20304780 |
| Tgene | PARK7 | GO:0043524 | negative regulation of neuron apoptotic process | 22511790 |
| Tgene | PARK7 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 21097510 |
| Tgene | PARK7 | GO:0046295 | glycolate biosynthetic process | 22523093 |
| Tgene | PARK7 | GO:0050821 | protein stabilization | 24947010 |
| Tgene | PARK7 | GO:0051444 | negative regulation of ubiquitin-protein transferase activity | 24899725 |
| Tgene | PARK7 | GO:0060548 | negative regulation of cell death | 14749723 |
| Tgene | PARK7 | GO:0060765 | regulation of androgen receptor signaling pathway | 11477070 |
| Tgene | PARK7 | GO:0070301 | cellular response to hydrogen peroxide | 14749723 |
| Tgene | PARK7 | GO:0090073 | positive regulation of protein homodimerization activity | 24947010 |
| Tgene | PARK7 | GO:0106044 | guanine deglycation | 28596309 |
| Tgene | PARK7 | GO:0106045 | guanine deglycation, methylglyoxal removal | 28596309 |
| Tgene | PARK7 | GO:0106046 | guanine deglycation, glyoxal removal | 28596309 |
| Tgene | PARK7 | GO:1900182 | positive regulation of protein localization to nucleus | 21097510 |
| Tgene | PARK7 | GO:1901215 | negative regulation of neuron death | 22683601 |
| Tgene | PARK7 | GO:1901671 | positive regulation of superoxide dismutase activity | 24567322 |
| Tgene | PARK7 | GO:1901984 | negative regulation of protein acetylation | 22683601 |
| Tgene | PARK7 | GO:1903094 | negative regulation of protein K48-linked deubiquitination | 21097510 |
| Tgene | PARK7 | GO:1903168 | positive regulation of pyrroline-5-carboxylate reductase activity | 23743200 |
| Tgene | PARK7 | GO:1903178 | positive regulation of tyrosine 3-monooxygenase activity | 19703902 |
| Tgene | PARK7 | GO:1903181 | positive regulation of dopamine biosynthetic process | 19703902 |
| Tgene | PARK7 | GO:1903189 | glyoxal metabolic process | 22523093 |
| Tgene | PARK7 | GO:1903200 | positive regulation of L-dopa decarboxylase activity | 19703902 |
| Tgene | PARK7 | GO:1903202 | negative regulation of oxidative stress-induced cell death | 16632486 |
| Tgene | PARK7 | GO:1903208 | negative regulation of hydrogen peroxide-induced neuron death | 15983381|24947010 |
| Tgene | PARK7 | GO:1903377 | negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway | 15790595 |
| Tgene | PARK7 | GO:1905259 | negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway | 14752510 |
| Tgene | PARK7 | GO:2000157 | negative regulation of ubiquitin-specific protease activity | 21097510 |
| 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 | DA079029 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| * 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-5UTR | ENST00000569532 | ENST00000338639 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-5UTR | ENST00000569532 | ENST00000493678 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-5UTR | ENST00000569532 | ENST00000377493 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-intron | ENST00000569532 | ENST00000377491 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-intron | ENST00000569532 | ENST00000377488 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-intron | ENST00000569532 | ENST00000497113 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-5UTR | ENST00000304381 | ENST00000338639 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-5UTR | ENST00000304381 | ENST00000493678 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-5UTR | ENST00000304381 | ENST00000377493 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-intron | ENST00000304381 | ENST00000377491 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-intron | ENST00000304381 | ENST00000377488 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-intron | ENST00000304381 | ENST00000497113 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-5UTR | ENST00000421369 | ENST00000338639 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-5UTR | ENST00000421369 | ENST00000493678 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-5UTR | ENST00000421369 | ENST00000377493 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-intron | ENST00000421369 | ENST00000377491 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-intron | ENST00000421369 | ENST00000377488 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-intron | ENST00000421369 | ENST00000497113 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-5UTR | ENST00000561963 | ENST00000338639 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-5UTR | ENST00000561963 | ENST00000493678 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-5UTR | ENST00000561963 | ENST00000377493 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-intron | ENST00000561963 | ENST00000377491 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-intron | ENST00000561963 | ENST00000377488 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
| intron-intron | ENST00000561963 | ENST00000497113 | TMC7 | chr16 | 19060249 | + | PARK7 | chr1 | 8021771 | + |
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FusionProtFeatures for TMC7_PARK7 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TMC7 | PARK7 |
| Probable ion channel. {ECO:0000250}. | Protein and nucleotide deglycase that catalyzes thedeglycation of the Maillard adducts formed between amino groups ofproteins or nucleotides and reactive carbonyl groups of glyoxals(PubMed:25416785, PubMed:28596309). Thus, functions as a proteindeglycase that repairs methylglyoxal- and glyoxal-glycatedproteins, and releases repaired proteins and lactate or glycolate,respectively. Deglycates cysteine, arginine and lysine residues inproteins, and thus reactivates these proteins by reversingglycation by glyoxals. Acts on early glycation intermediates(hemithioacetals and aminocarbinols), preventing the formation ofadvanced glycation endproducts (AGE) that cause irreversibledamage (PubMed:25416785, PubMed:28013050, PubMed:26995087). Alsofunctions as a nucleotide deglycase able to repair glycatedguanine in the free nucleotide pool (GTP, GDP, GMP, dGTP) and inDNA and RNA. Is thus involved in a major nucleotide repair systemnamed guanine glycation repair (GG repair), dedicated to reversingmethylglyoxal and glyoxal damage via nucleotide sanitization anddirect nucleic acid repair (PubMed:28596309). Also displays anapparent glyoxalase activity that in fact reflects its deglycaseactivity (PubMed:22523093). Plays an important role in cellprotection against oxidative stress and cell death acting asoxidative stress sensor and redox-sensitive chaperone andprotease; functions probably related to its primary function(PubMed:17015834, PubMed:20304780, PubMed:18711745,PubMed:12796482, PubMed:19229105, PubMed:25416785,PubMed:26995087). It is involved in neuroprotective mechanismslike the stabilization of NFE2L2 and PINK1 proteins, malefertility as a positive regulator of androgen signaling pathway aswell as cell growth and transformation through, for instance, themodulation of NF-kappa-B signaling pathway (PubMed:12612053,PubMed:15502874, PubMed:14749723, PubMed:17015834,PubMed:21097510, PubMed:18711745). Eliminates hydrogen peroxideand protects cells against hydrogen peroxide-induced cell death(PubMed:16390825). Required for correct mitochondrial morphologyand function as well as for autophagy of dysfunctionalmitochondria (PubMed:19229105, PubMed:16632486). Plays a role inregulating expression or stability of the mitochondrial uncouplingproteins SLC25A14 and SLC25A27 in dopaminergic neurons of thesubstantia nigra pars compacta and attenuates the oxidative stressinduced by calcium entry into the neurons via L-type channelsduring pacemaking (PubMed:18711745). Regulates astrocyteinflammatory responses, may modulate lipid rafts-dependentendocytosis in astrocytes and neuronal cells (PubMed:23847046). Inpancreatic islets, involved in the maintenance of mitochondrialreactive oxygen species (ROS) levels and glucose homeostasis in anage- and diet dependent manner. Protects pancreatic beta cellsfrom cell death induced by inflammatory and cytotoxic setting (Bysimilarity). Binds to a number of mRNAs containing multiple copiesof GG or CC motifs and partially inhibits their translation butdissociates following oxidative stress (PubMed:18626009). Metal-binding protein able to bind copper as well as toxic mercury ions,enhances the cell protection mechanism against induced metaltoxicity (PubMed:23792957). In macrophages, interacts with theNADPH oxidase subunit NCF1 to direct NADPH oxidase-dependent ROSproduction, and protects against sepsis (By similarity).{ECO:0000250|UniProtKB:Q99LX0, ECO:0000269|PubMed:11477070,ECO:0000269|PubMed:12612053, ECO:0000269|PubMed:12855764,ECO:0000269|PubMed:12939276, ECO:0000269|PubMed:14749723,ECO:0000269|PubMed:15181200, ECO:0000269|PubMed:15502874,ECO:0000269|PubMed:15976810, ECO:0000269|PubMed:16390825,ECO:0000269|PubMed:17015834, ECO:0000269|PubMed:18626009,ECO:0000269|PubMed:18711745, ECO:0000269|PubMed:19229105,ECO:0000269|PubMed:20186336, ECO:0000269|PubMed:20304780,ECO:0000269|PubMed:21097510, ECO:0000269|PubMed:22523093,ECO:0000269|PubMed:23792957, ECO:0000269|PubMed:23847046,ECO:0000269|PubMed:25416785, ECO:0000269|PubMed:26995087,ECO:0000269|PubMed:28013050, ECO:0000269|PubMed:28596309,ECO:0000269|PubMed:9070310}. |
| 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 TMC7_PARK7 |
| 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 TMC7_PARK7 |
| 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 TMC7_PARK7 |
| 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 TMC7_PARK7 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PARK7 | C0030567 | Parkinson Disease | 9 | CTD_human |
| Tgene | PARK7 | C1853445 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET | 4 | CTD_human;UNIPROT |
| Tgene | PARK7 | C0029456 | Osteoporosis | 1 | CTD_human |
| Tgene | PARK7 | C0206160 | Reticulocytosis | 1 | CTD_human |
| Tgene | PARK7 | C0242422 | Parkinsonian Disorders | 1 | CTD_human |
| Tgene | PARK7 | C0520459 | Necrotizing Enterocolitis | 1 | CTD_human |
| Tgene | PARK7 | C2239176 | Liver carcinoma | 1 | CTD_human |
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