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Fusion Protein:DDRGK1-RAC1 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: DDRGK1-RAC1 | FusionPDB ID: 21852 | FusionGDB2.0 ID: 21852 | Hgene | Tgene | Gene symbol | DDRGK1 | RAC1 | Gene ID | 65992 | 6035 |
| Gene name | DDRGK domain containing 1 | ribonuclease A family member 1, pancreatic | |
| Synonyms | C20orf116|SEMDSH|UFBP1|dJ1187M17.3 | RAC1|RIB1|RNS1 | |
| Cytomap | 20p13 | 14q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DDRGK domain-containing protein 1DashurinUFM1-binding and PCI domain-containing protein 1UFM1-binding protein 1 containing a PCI domain | ribonuclease pancreaticHP-RNaseRIB-1RNase 1RNase ARNase upI-1ribonuclease 1ribonuclease A C1ribonuclease, RNase A family, 1 (pancreatic) | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q96HY6 | . | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000354488, ENST00000380201, ENST00000496781, | ENST00000488373, ENST00000348035, ENST00000356142, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 1 X 1 X 1=1 | 17 X 10 X 5=850 |
| # samples | 1 | 18 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(18/850*10)=-2.23946593469539 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: DDRGK1 [Title/Abstract] AND RAC1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | DDRGK1(3175475)-RAC1(6439756), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | DDRGK1-RAC1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. DDRGK1-RAC1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. DDRGK1-RAC1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. DDRGK1-RAC1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. | ||
| * 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 | DDRGK1 | GO:0033146 | regulation of intracellular estrogen receptor signaling pathway | 25219498 |
| Hgene | DDRGK1 | GO:1990592 | protein K69-linked ufmylation | 25219498 |
| Tgene | RAC1 | GO:0051607 | defense response to virus | 9826755 |
| Tgene | RAC1 | GO:0090501 | RNA phosphodiester bond hydrolysis | 9826755 |
| Fusion gene breakpoints across DDRGK1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across RAC1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | HNSC | TCGA-DQ-7594 | DDRGK1 | chr20 | 3175475 | - | RAC1 | chr7 | 6439756 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000354488 | DDRGK1 | chr20 | 3175475 | - | ENST00000348035 | RAC1 | chr7 | 6439756 | + | 2615 | 730 | 58 | 1083 | 341 |
| ENST00000354488 | DDRGK1 | chr20 | 3175475 | - | ENST00000356142 | RAC1 | chr7 | 6439756 | + | 1158 | 730 | 58 | 1083 | 341 |
| ENST00000380201 | DDRGK1 | chr20 | 3175475 | - | ENST00000348035 | RAC1 | chr7 | 6439756 | + | 2615 | 730 | 58 | 1083 | 341 |
| ENST00000380201 | DDRGK1 | chr20 | 3175475 | - | ENST00000356142 | RAC1 | chr7 | 6439756 | + | 1158 | 730 | 58 | 1083 | 341 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000354488 | ENST00000348035 | DDRGK1 | chr20 | 3175475 | - | RAC1 | chr7 | 6439756 | + | 0.000342744 | 0.9996573 |
| ENST00000354488 | ENST00000356142 | DDRGK1 | chr20 | 3175475 | - | RAC1 | chr7 | 6439756 | + | 0.003052752 | 0.9969472 |
| ENST00000380201 | ENST00000348035 | DDRGK1 | chr20 | 3175475 | - | RAC1 | chr7 | 6439756 | + | 0.000342744 | 0.9996573 |
| ENST00000380201 | ENST00000356142 | DDRGK1 | chr20 | 3175475 | - | RAC1 | chr7 | 6439756 | + | 0.003052752 | 0.9969472 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >21852_21852_1_DDRGK1-RAC1_DDRGK1_chr20_3175475_ENST00000354488_RAC1_chr7_6439756_ENST00000348035_length(amino acids)=341AA_BP=224 MVAPVWYLVAAALLVGFILFLTRSRGRAASAGQEPLHNEELAGAGRVAQPGPLEPEEPRAGGRPRRRRDLGSRLQAQRRAQRVAWAEADE NEEEAVILAQEEEGVEKPAETHLSGKIGAKKLRKLEEKQARKAQREAEEAEREERKRLESQREAEWKKEEERLRLEEEQKEEEERKAREE QAQREHEEYLKLKEAFVVEEEGVGETMTEEQSQSFLTEFINYIKDVFLICFSLVSPASFENVRAKWYPEVRHHCPNTPIILVGTKLDLRD -------------------------------------------------------------- >21852_21852_2_DDRGK1-RAC1_DDRGK1_chr20_3175475_ENST00000354488_RAC1_chr7_6439756_ENST00000356142_length(amino acids)=341AA_BP=224 MVAPVWYLVAAALLVGFILFLTRSRGRAASAGQEPLHNEELAGAGRVAQPGPLEPEEPRAGGRPRRRRDLGSRLQAQRRAQRVAWAEADE NEEEAVILAQEEEGVEKPAETHLSGKIGAKKLRKLEEKQARKAQREAEEAEREERKRLESQREAEWKKEEERLRLEEEQKEEEERKAREE QAQREHEEYLKLKEAFVVEEEGVGETMTEEQSQSFLTEFINYIKDVFLICFSLVSPASFENVRAKWYPEVRHHCPNTPIILVGTKLDLRD -------------------------------------------------------------- >21852_21852_3_DDRGK1-RAC1_DDRGK1_chr20_3175475_ENST00000380201_RAC1_chr7_6439756_ENST00000348035_length(amino acids)=341AA_BP=224 MVAPVWYLVAAALLVGFILFLTRSRGRAASAGQEPLHNEELAGAGRVAQPGPLEPEEPRAGGRPRRRRDLGSRLQAQRRAQRVAWAEADE NEEEAVILAQEEEGVEKPAETHLSGKIGAKKLRKLEEKQARKAQREAEEAEREERKRLESQREAEWKKEEERLRLEEEQKEEEERKAREE QAQREHEEYLKLKEAFVVEEEGVGETMTEEQSQSFLTEFINYIKDVFLICFSLVSPASFENVRAKWYPEVRHHCPNTPIILVGTKLDLRD -------------------------------------------------------------- >21852_21852_4_DDRGK1-RAC1_DDRGK1_chr20_3175475_ENST00000380201_RAC1_chr7_6439756_ENST00000356142_length(amino acids)=341AA_BP=224 MVAPVWYLVAAALLVGFILFLTRSRGRAASAGQEPLHNEELAGAGRVAQPGPLEPEEPRAGGRPRRRRDLGSRLQAQRRAQRVAWAEADE NEEEAVILAQEEEGVEKPAETHLSGKIGAKKLRKLEEKQARKAQREAEEAEREERKRLESQREAEWKKEEERLRLEEEQKEEEERKAREE QAQREHEEYLKLKEAFVVEEEGVGETMTEEQSQSFLTEFINYIKDVFLICFSLVSPASFENVRAKWYPEVRHHCPNTPIILVGTKLDLRD -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr20:3175475/chr7:6439756) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DDRGK1 | . |
| FUNCTION: Substrate adapter for ufmylation, the covalent attachment of the ubiquitin-like modifier UFM1 to substrate proteins, which plays a key role in reticulophagy (also called ER-phagy) (PubMed:32160526). In response to endoplasmic reticulum stress, promotes recruitment of the E3 UFM1-protein ligase UFL1 to the endoplasmic reticulum membrane: in turn, UFL1 mediates ufmylation of proteins such as RPN1 and RPL26/uL24, promoting reticulophagy of endoplasmic reticulum sheets (PubMed:32160526). Ufmylation-dependent reticulophagy inhibits the unfolded protein response (UPR) by regulating ERN1/IRE1-alpha stability (PubMed:28128204, PubMed:32160526). Ufmylation in response to endoplasmic reticulum stress is essential for processes such as hematopoiesis or inflammatory response (By similarity). Required for TRIP4 ufmylation, thereby regulating nuclear receptors-mediated. transcription (PubMed:25219498). May play a role in NF-kappa-B-mediated transcription through regulation of the phosphorylation and the degradation of NFKBIA, the inhibitor of NF-kappa-B (PubMed:23675531). Plays a role in cartilage development through SOX9, inhibiting the ubiquitin-mediated proteasomal degradation of this transcriptional regulator (PubMed:28263186). {ECO:0000250|UniProtKB:Q80WW9, ECO:0000269|PubMed:23675531, ECO:0000269|PubMed:25219498, ECO:0000269|PubMed:28128204, ECO:0000269|PubMed:28263186, ECO:0000269|PubMed:32160526}. | FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. |
| 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. |
| - 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 |
| Tgene | RAC1 | chr20:3175475 | chr7:6439756 | ENST00000348035 | 2 | 6 | 116_118 | 75.0 | 193.0 | Nucleotide binding | GTP | |
| Tgene | RAC1 | chr20:3175475 | chr7:6439756 | ENST00000348035 | 2 | 6 | 159_160 | 75.0 | 193.0 | Nucleotide binding | GTP | |
| Tgene | RAC1 | chr20:3175475 | chr7:6439756 | ENST00000356142 | 3 | 7 | 116_118 | 94.0 | 212.0 | Nucleotide binding | GTP | |
| Tgene | RAC1 | chr20:3175475 | chr7:6439756 | ENST00000356142 | 3 | 7 | 159_160 | 94.0 | 212.0 | Nucleotide binding | GTP |
| - 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 | DDRGK1 | chr20:3175475 | chr7:6439756 | ENST00000354488 | - | 6 | 9 | 229_273 | 224.0 | 315.0 | Domain | Note=PCI |
| Tgene | RAC1 | chr20:3175475 | chr7:6439756 | ENST00000348035 | 2 | 6 | 32_40 | 75.0 | 193.0 | Motif | Effector region | |
| Tgene | RAC1 | chr20:3175475 | chr7:6439756 | ENST00000356142 | 3 | 7 | 32_40 | 94.0 | 212.0 | Motif | Effector region | |
| Tgene | RAC1 | chr20:3175475 | chr7:6439756 | ENST00000348035 | 2 | 6 | 13_18 | 75.0 | 193.0 | Nucleotide binding | GTP | |
| Tgene | RAC1 | chr20:3175475 | chr7:6439756 | ENST00000348035 | 2 | 6 | 30_35 | 75.0 | 193.0 | Nucleotide binding | GTP | |
| Tgene | RAC1 | chr20:3175475 | chr7:6439756 | ENST00000356142 | 3 | 7 | 13_18 | 94.0 | 212.0 | Nucleotide binding | GTP | |
| Tgene | RAC1 | chr20:3175475 | chr7:6439756 | ENST00000356142 | 3 | 7 | 30_35 | 94.0 | 212.0 | Nucleotide binding | GTP |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| DDRGK1 | |
| RAC1 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to DDRGK1-RAC1 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to DDRGK1-RAC1 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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