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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:C3-SEC63 (FusionGDB2 ID:11757) |
Fusion Gene Summary for C3-SEC63 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: C3-SEC63 | Fusion gene ID: 11757 | Hgene | Tgene | Gene symbol | C3 | SEC63 | Gene ID | 718 | 11231 |
| Gene name | complement C3 | SEC63 homolog, protein translocation regulator | |
| Synonyms | AHUS5|ARMD9|ASP|C3a|C3b|CPAMD1|HEL-S-62p | DNAJC23|ERdj2|PCLD2|PRO2507|SEC63L | |
| Cytomap | 19p13.3 | 6q21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | complement C3C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1C3a anaphylatoxinacylation-stimulating protein cleavage productcomplement component 3complement component C3acomplement component C3bepididymis secretory sperm binding pr | translocation protein SEC63 homologSEC63 protein translocation regulatorSEC63-like protein | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | P01024 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000245907, ENST00000599668, | ENST00000369002, ENST00000460009, | |
| Fusion gene scores | * DoF score | 28 X 24 X 14=9408 | 38 X 14 X 15=7980 |
| # samples | 33 | 39 | |
| ** MAII score | log2(33/9408*10)=-4.83335013059055 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(39/7980*10)=-4.3548427173601 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: C3 [Title/Abstract] AND SEC63 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | C3(6677846)-SEC63(108214782), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | C3 | GO:0001934 | positive regulation of protein phosphorylation | 15833747 |
| Hgene | C3 | GO:0010575 | positive regulation of vascular endothelial growth factor production | 16452172 |
| Hgene | C3 | GO:0010828 | positive regulation of glucose transmembrane transport | 9059512|15833747 |
| Hgene | C3 | GO:0010866 | regulation of triglyceride biosynthetic process | 10432298 |
| Hgene | C3 | GO:0010884 | positive regulation of lipid storage | 9555951 |
| Hgene | C3 | GO:0045745 | positive regulation of G protein-coupled receptor signaling pathway | 15833747 |
| Fusion gene breakpoints across C3 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across SEC63 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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 | UCS | TCGA-N8-A4PP-01A | C3 | chr19 | 6677846 | - | SEC63 | chr6 | 108214782 | - |
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Fusion Gene ORF analysis for C3-SEC63 |
| 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-3CDS | ENST00000245907 | ENST00000369002 | C3 | chr19 | 6677846 | - | SEC63 | chr6 | 108214782 | - |
| intron-intron | ENST00000245907 | ENST00000460009 | C3 | chr19 | 6677846 | - | SEC63 | chr6 | 108214782 | - |
| intron-3CDS | ENST00000599668 | ENST00000369002 | C3 | chr19 | 6677846 | - | SEC63 | chr6 | 108214782 | - |
| intron-intron | ENST00000599668 | ENST00000460009 | C3 | chr19 | 6677846 | - | SEC63 | chr6 | 108214782 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| 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 |
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Fusion Genomic Features for C3-SEC63 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for C3-SEC63 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| C3 | . |
| FUNCTION: C3 plays a central role in the activation of the complement system. Its processing by C3 convertase is the central reaction in both classical and alternative complement pathways. After activation C3b can bind covalently, via its reactive thioester, to cell surface carbohydrates or immune aggregates.; FUNCTION: Derived from proteolytic degradation of complement C3, C3a anaphylatoxin is a mediator of local inflammatory process. In chronic inflammation, acts as a chemoattractant for neutrophils (By similarity). It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes. {ECO:0000250}.; FUNCTION: [C3-beta-c]: Acts as a chemoattractant for neutrophils in chronic inflammation. {ECO:0000250}.; FUNCTION: [Acylation stimulating protein]: adipogenic hormone that stimulates triglyceride (TG) synthesis and glucose transport in adipocytes, regulating fat storage and playing a role in postprandial TG clearance. Appears to stimulate TG synthesis via activation of the PLC, MAPK and AKT signaling pathways. Ligand for C5AR2. Promotes the phosphorylation, ARRB2-mediated internalization and recycling of C5AR2 (PubMed:8376604, PubMed:2909530, PubMed:9059512, PubMed:10432298, PubMed:15833747, PubMed:16333141, PubMed:19615750). {ECO:0000269|PubMed:10432298, ECO:0000269|PubMed:15833747, ECO:0000269|PubMed:16333141, ECO:0000269|PubMed:19615750, ECO:0000269|PubMed:2909530, ECO:0000269|PubMed:8376604, ECO:0000269|PubMed:9059512}. | 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. |
| - 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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Fusion Gene Sequence for C3-SEC63 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for C3-SEC63 |
| 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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Related Drugs for C3-SEC63 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | C3 | P01024 | DB14548 | Zinc sulfate, unspecified form | Inhibitor|Ligand | Small molecule | Approved|Experimental |
| Hgene | C3 | P01024 | DB14548 | Zinc sulfate, unspecified form | Inhibitor|Ligand | Small molecule | Approved|Experimental |
| Hgene | C3 | P01024 | DB00028 | Human immunoglobulin G | Binder | Biotech | Approved|Investigational |
| Hgene | C3 | P01024 | DB00028 | Human immunoglobulin G | Binder | Biotech | Approved|Investigational |
| Hgene | C3 | P01024 | DB01593 | Zinc | Small molecule | Approved|Investigational | |
| Hgene | C3 | P01024 | DB01593 | Zinc | Small molecule | Approved|Investigational | |
| Hgene | C3 | P01024 | DB09130 | Copper | Small molecule | Approved|Investigational | |
| Hgene | C3 | P01024 | DB09130 | Copper | Small molecule | Approved|Investigational | |
| Hgene | C3 | P01024 | DB14487 | Zinc acetate | Small molecule | Approved|Investigational | |
| Hgene | C3 | P01024 | DB14487 | Zinc acetate | Small molecule | Approved|Investigational | |
| Hgene | C3 | P01024 | DB14533 | Zinc chloride | Inhibitor|Ligand | Small molecule | Approved|Investigational |
| Hgene | C3 | P01024 | DB14533 | Zinc chloride | Inhibitor|Ligand | Small molecule | Approved|Investigational |
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Related Diseases for C3-SEC63 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | C3 | C3151071 | COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | C3 | C0242383 | Age related macular degeneration | 4 | CTD_human;GENOMICS_ENGLAND |
| Hgene | C3 | C2752037 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 | 4 | GENOMICS_ENGLAND;UNIPROT |
| Hgene | C3 | C1969651 | Macular Degeneration, Age-Related, 9 | 2 | CTD_human;UNIPROT |
| Hgene | C3 | C0003257 | Antibody Deficiency Syndrome | 1 | CTD_human |
| Hgene | C3 | C0007787 | Transient Ischemic Attack | 1 | CTD_human |
| Hgene | C3 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Hgene | C3 | C0013221 | Drug toxicity | 1 | CTD_human |
| Hgene | C3 | C0017665 | Membranous glomerulonephritis | 1 | CTD_human |
| Hgene | C3 | C0019061 | Hemolytic-Uremic Syndrome | 1 | GENOMICS_ENGLAND |
| Hgene | C3 | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
| Hgene | C3 | C0021051 | Immunologic Deficiency Syndromes | 1 | CTD_human |
| Hgene | C3 | C0021655 | Insulin Resistance | 1 | CTD_human |
| Hgene | C3 | C0022660 | Kidney Failure, Acute | 1 | CTD_human |
| Hgene | C3 | C0030524 | Paratuberculosis | 1 | CTD_human |
| Hgene | C3 | C0030807 | Pemphigus | 1 | CTD_human |
| Hgene | C3 | C0030809 | Pemphigus Vulgaris | 1 | CTD_human |
| Hgene | C3 | C0034152 | Henoch-Schoenlein Purpura | 1 | CTD_human |
| Hgene | C3 | C0041755 | Adverse reaction to drug | 1 | CTD_human |
| Hgene | C3 | C0042386 | Vasculitis, Hemorrhagic | 1 | CTD_human |
| Hgene | C3 | C0086445 | Idiopathic Membranous Glomerulonephritis | 1 | CTD_human |
| Hgene | C3 | C0086922 | Rheumatoid Purpura | 1 | CTD_human |
| Hgene | C3 | C0238281 | Middle Cerebral Artery Syndrome | 1 | CTD_human |
| Hgene | C3 | C0242461 | Purpura, Nonthrombocytopenic | 1 | CTD_human |
| Hgene | C3 | C0263313 | Pemphigus Foliaceus | 1 | CTD_human |
| Hgene | C3 | C0272242 | Complement deficiency disease | 1 | GENOMICS_ENGLAND |
| Hgene | C3 | C0376362 | Purpura Hemorrhagica | 1 | CTD_human |
| Hgene | C3 | C0472381 | Posterior Circulation Transient Ischemic Attack | 1 | CTD_human |
| Hgene | C3 | C0740376 | Middle Cerebral Artery Thrombosis | 1 | CTD_human |
| Hgene | C3 | C0740391 | Middle Cerebral Artery Occlusion | 1 | CTD_human |
| Hgene | C3 | C0740392 | Infarction, Middle Cerebral Artery | 1 | CTD_human |
| Hgene | C3 | C0751019 | Carotid Circulation Transient Ischemic Attack | 1 | CTD_human |
| Hgene | C3 | C0751020 | Transient Ischemic Attack, Vertebrobasilar Circulation | 1 | CTD_human |
| Hgene | C3 | C0751021 | Crescendo Transient Ischemic Attacks | 1 | CTD_human |
| Hgene | C3 | C0751022 | Brain Stem Ischemia, Transient | 1 | CTD_human |
| Hgene | C3 | C0751845 | Middle Cerebral Artery Embolus | 1 | CTD_human |
| Hgene | C3 | C0751846 | Left Middle Cerebral Artery Infarction | 1 | CTD_human |
| Hgene | C3 | C0751847 | Embolic Infarction, Middle Cerebral Artery | 1 | CTD_human |
| Hgene | C3 | C0751848 | Thrombotic Infarction, Middle Cerebral Artery | 1 | CTD_human |
| Hgene | C3 | C0751849 | Right Middle Cerebral Artery Infarction | 1 | CTD_human |
| Hgene | C3 | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
| Hgene | C3 | C0917805 | Transient Cerebral Ischemia | 1 | CTD_human |
| Hgene | C3 | C0920563 | Insulin Sensitivity | 1 | CTD_human |
| Hgene | C3 | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
| Hgene | C3 | C1332655 | Complement component 3 deficiency | 1 | GENOMICS_ENGLAND |
| Hgene | C3 | C1527335 | Transient Ischemic Attack, Anterior Circulation | 1 | CTD_human |
| Hgene | C3 | C1565662 | Acute Kidney Insufficiency | 1 | CTD_human |
| Hgene | C3 | C1704378 | Heymann Nephritis | 1 | CTD_human |
| Hgene | C3 | C2609414 | Acute kidney injury | 1 | CTD_human |
| Hgene | C3 | C2931788 | Atypical Hemolytic Uremic Syndrome | 1 | CTD_human;GENOMICS_ENGLAND |
| Hgene | C3 | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
| Hgene | C3 | C4087273 | C3 glomerulopathy | 1 | GENOMICS_ENGLAND |
| Hgene | C3 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
| Hgene | C3 | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
| Tgene | SEC63 | C0158683 | Polycystic liver disease | 2 | CTD_human;ORPHANET |
| Tgene | SEC63 | C0022680 | Polycystic Kidney Diseases | 1 | CTD_human |
| Tgene | SEC63 | C1567435 | Polycystic Kidney - body part | 1 | CTD_human |
| Tgene | SEC63 | C4310769 | POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS | 1 | GENOMICS_ENGLAND |
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