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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:IGHG1-COL4A1 (FusionGDB2 ID:HG3500TG1282) |
Fusion Gene Summary for IGHG1-COL4A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IGHG1-COL4A1 | Fusion gene ID: hg3500tg1282 | Hgene | Tgene | Gene symbol | IGHG1 | COL4A1 | Gene ID | 3500 | 1282 |
| Gene name | collagen type IV alpha 1 chain | ||
| Synonyms | BSVD|BSVD1|PADMAL|RATOR | ||
| Cytomap | ('IGHG1')('COL4A1') | 13q34 | |
| Type of gene | protein-coding | ||
| Description | collagen alpha-1(IV) chainCOL4A1 NC1 domainarrestencollagen IV, alpha-1 polypeptidecollagen of basement membrane, alpha-1 chain | ||
| Modification date | 20200313 | ||
| UniProtAcc | P01857 | P02462 | |
| Ensembl transtripts involved in fusion gene | ENST00000390548, | ||
| Fusion gene scores | * DoF score | 28 X 26 X 10=7280 | 14 X 14 X 7=1372 |
| # samples | 31 | 16 | |
| ** MAII score | log2(31/7280*10)=-4.55359832981182 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/1372*10)=-3.10013667128545 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: IGHG1 [Title/Abstract] AND COL4A1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | IGHG1(106208678)-COL4A1(110850978), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | IGHG1-COL4A1 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. IGHG1-COL4A1 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. IGHG1-COL4A1 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. IGHG1-COL4A1 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 |
| Fusion gene breakpoints across IGHG1 (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 COL4A1 (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 information * 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 | STAD | TCGA-BR-8485-01A | IGHG1 | chr14 | 106208678 | - | COL4A1 | chr13 | 110850978 | - |
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Fusion Gene ORF analysis for IGHG1-COL4A1 |
| 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-intron | ENST00000390548 | ENST00000467182 | IGHG1 | chr14 | 106208678 | - | COL4A1 | chr13 | 110850978 | - |
| In-frame | ENST00000390548 | ENST00000375820 | IGHG1 | chr14 | 106208678 | - | COL4A1 | chr13 | 110850978 | - |
| In-frame | ENST00000390548 | ENST00000543140 | IGHG1 | chr14 | 106208678 | - | COL4A1 | chr13 | 110850978 | - |
| 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) |
| ENST00000390548 | IGHG1 | chr14 | 106208678 | - | ENST00000375820 | COL4A1 | chr13 | 110850978 | - | 5622 | 340 | 30 | 4229 | 1399 |
| ENST00000390548 | IGHG1 | chr14 | 106208678 | - | ENST00000543140 | COL4A1 | chr13 | 110850978 | - | 1663 | 340 | 30 | 779 | 249 |
| 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 |
| ENST00000390548 | ENST00000375820 | IGHG1 | chr14 | 106208678 | - | COL4A1 | chr13 | 110850978 | - | 0.002419422 | 0.9975805 |
| ENST00000390548 | ENST00000543140 | IGHG1 | chr14 | 106208678 | - | COL4A1 | chr13 | 110850978 | - | 0.7833235 | 0.21667643 |
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Fusion Genomic Features for IGHG1-COL4A1 |
| 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. |
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Fusion Protein Features for IGHG1-COL4A1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr14:106208678/chr13:110850978) - 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 |
| IGHG1 | COL4A1 |
| FUNCTION: Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). {ECO:0000303|PubMed:17576170, ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}. | FUNCTION: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. {ECO:0000250|UniProtKB:P02463}.; FUNCTION: Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation. {ECO:0000269|PubMed:10811134, ECO:0000269|PubMed:18775695}. |
| 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 |
| Tgene | COL4A1 | chr14:106208678 | chr13:110850978 | ENST00000375820 | 19 | 52 | 1445_1669 | 373 | 1670.0 | Domain | Collagen IV NC1 |
| - 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 |
| Tgene | COL4A1 | chr14:106208678 | chr13:110850978 | ENST00000375820 | 19 | 52 | 173_1440 | 373 | 1670.0 | Region | Note=Triple-helical region |
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Fusion Gene Sequence for IGHG1-COL4A1 |
| 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 IGHG1-COL4A1 |
| 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 IGHG1-COL4A1 |
| 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 | IGHG1 | P01857 | DB09130 | Copper | Small molecule | Approved|Investigational |
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Related Diseases for IGHG1-COL4A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | IGHG1 | C0027121 | Myositis | 1 | CTD_human |
| Hgene | IGHG1 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| Hgene | IGHG1 | C0158353 | Infectious Myositis | 1 | CTD_human |
| Hgene | IGHG1 | C0544796 | Myositis, Proliferative | 1 | CTD_human |
| Hgene | IGHG1 | C0751356 | Idiopathic Inflammatory Myopathies | 1 | CTD_human |
| Hgene | IGHG1 | C0751357 | Myositis, Focal | 1 | CTD_human |
| Hgene | IGHG1 | C1136382 | Sclerocystic Ovaries | 1 | CTD_human |
| Tgene | C4551998 | Porencephaly, Type 1, Autosomal Dominant | 18 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C2673195 | Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
| Tgene | C1843512 | BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
| Tgene | C0018965 | Hematuria | 3 | GENOMICS_ENGLAND | |
| Tgene | C0266548 | Axenfeld anomaly (disorder) | 3 | CTD_human;GENOMICS_ENGLAND | |
| Tgene | C1860475 | Retinal vascular tortuosity | 3 | GENOMICS_ENGLAND | |
| Tgene | C0011881 | Diabetic Nephropathy | 2 | CTD_human | |
| Tgene | C0017667 | Nodular glomerulosclerosis | 2 | CTD_human | |
| Tgene | C0017668 | Focal glomerulosclerosis | 2 | CTD_human | |
| Tgene | C0086432 | Hyalinosis, Segmental Glomerular | 2 | CTD_human | |
| Tgene | C0265341 | Rieger syndrome | 2 | CTD_human | |
| Tgene | C0266484 | Schizencephaly | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C0302892 | Congenital porencephaly | 2 | CTD_human | |
| Tgene | C1280768 | Axenfeld syndrome | 2 | CTD_human | |
| Tgene | C1867983 | PORENCEPHALY, FAMILIAL | 2 | CTD_human;ORPHANET | |
| Tgene | C2675650 | Brain Small Vessel Disease With Axenfeld-Rieger Anomaly | 2 | CTD_human | |
| Tgene | C2678503 | AXENFELD-RIEGER SYNDROME, TYPE 3 | 2 | CTD_human | |
| Tgene | C3281105 | HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO | 2 | GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C3495488 | Axenfeld-Rieger syndrome | 2 | CTD_human | |
| Tgene | C3698507 | Post-traumatic Porencephaly | 2 | CTD_human | |
| Tgene | C3714873 | Axenfeld-Rieger Syndrome, Type 1 | 2 | CTD_human | |
| Tgene | C4082173 | Porencephaly | 2 | CTD_human | |
| Tgene | C4082301 | Developmental Porencephaly | 2 | CTD_human | |
| Tgene | C0002878 | Anemia, Hemolytic | 1 | CTD_human | |
| Tgene | C0002879 | Anemia, Hemolytic, Acquired | 1 | CTD_human | |
| Tgene | C0002889 | Anemia, Microangiopathic | 1 | CTD_human | |
| Tgene | C0015393 | Eye Abnormalities | 1 | CTD_human | |
| Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human | |
| Tgene | C0026848 | Myopathy | 1 | GENOMICS_ENGLAND | |
| Tgene | C0027726 | Nephrotic Syndrome | 1 | CTD_human | |
| Tgene | C0036572 | Seizures | 1 | GENOMICS_ENGLAND | |
| Tgene | C0038454 | Cerebrovascular accident | 1 | GENOMICS_ENGLAND | |
| Tgene | C0149931 | Migraine Disorders | 1 | GENOMICS_ENGLAND | |
| Tgene | C0221021 | Microangiopathic hemolytic anemia | 1 | CTD_human | |
| Tgene | C0265221 | Walker-Warburg congenital muscular dystrophy | 1 | ORPHANET | |
| Tgene | C0270612 | Leukoencephalopathy | 1 | CTD_human | |
| Tgene | C0338656 | Impaired cognition | 1 | GENOMICS_ENGLAND | |
| Tgene | C0424605 | Developmental delay (disorder) | 1 | GENOMICS_ENGLAND | |
| Tgene | C0497327 | Dementia | 1 | GENOMICS_ENGLAND | |
| Tgene | C0557874 | Global developmental delay | 1 | GENOMICS_ENGLAND | |
| Tgene | C1135196 | Heart Failure, Diastolic | 1 | CTD_human | |
| Tgene | C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | 1 | CTD_human | |
| Tgene | C1867327 | RETINAL ARTERIES, TORTUOSITY OF | 1 | CTD_human;ORPHANET;UNIPROT | |
| Tgene | C2733158 | Cerebral Small Vessel Diseases | 1 | GENOMICS_ENGLAND | |
| Tgene | C2930808 | Familial vascular leukoencephalopathy | 1 | ORPHANET | |
| Tgene | C2931870 | Familial schizencephaly | 1 | ORPHANET | |
| Tgene | C4013035 | BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES | 1 | GENOMICS_ENGLAND |
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