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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:ABCG1-CCDC134 (FusionGDB2 ID:353) |
Fusion Gene Summary for ABCG1-CCDC134 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ABCG1-CCDC134 | Fusion gene ID: 353 | Hgene | Tgene | Gene symbol | ABCG1 | CCDC134 | Gene ID | 9619 | 79879 |
| Gene name | ATP binding cassette subfamily G member 1 | coiled-coil domain containing 134 | |
| Synonyms | ABC8|WHITE1 | - | |
| Cytomap | 21q22.3 | 22q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ATP-binding cassette sub-family G member 1ABC transporter 8ATP-binding cassette transporter 8ATP-binding cassette transporter member 1 of subfamily GATP-binding cassette, sub-family G (WHITE), member 1homolog of Drosophila whitewhite protein homolog | coiled-coil domain-containing protein 134 | |
| Modification date | 20200329 | 20200313 | |
| UniProtAcc | P45844 | Q9H6E4 | |
| Ensembl transtripts involved in fusion gene | ENST00000462050, ENST00000340588, ENST00000343687, ENST00000347800, ENST00000361802, ENST00000398437, ENST00000398449, ENST00000398457, | ENST00000255784, ENST00000402061, | |
| Fusion gene scores | * DoF score | 8 X 7 X 4=224 | 3 X 3 X 2=18 |
| # samples | 7 | 3 | |
| ** MAII score | log2(7/224*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ABCG1 [Title/Abstract] AND CCDC134 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ABCG1(43714770)-CCDC134(42204879), # samples:3 | ||
| 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 | ABCG1 | GO:0008203 | cholesterol metabolic process | 15994327 |
| Hgene | ABCG1 | GO:0033344 | cholesterol efflux | 15994327 |
| Hgene | ABCG1 | GO:0033993 | response to lipid | 16556852 |
| Hgene | ABCG1 | GO:0034436 | glycoprotein transport | 17293612 |
| Hgene | ABCG1 | GO:0042632 | cholesterol homeostasis | 15994327 |
| Hgene | ABCG1 | GO:0042987 | amyloid precursor protein catabolic process | 17293612 |
| Hgene | ABCG1 | GO:0050714 | positive regulation of protein secretion | 17293612 |
| Hgene | ABCG1 | GO:1902004 | positive regulation of amyloid-beta formation | 17293612 |
| Fusion gene breakpoints across ABCG1 (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 CCDC134 (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 | LUSC | TCGA-43-5670-01A | ABCG1 | chr21 | 43714770 | - | CCDC134 | chr22 | 42204879 | + |
| ChimerDB4 | LUSC | TCGA-43-5670-01A | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| ChimerDB4 | LUSC | TCGA-43-5670 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
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Fusion Gene ORF analysis for ABCG1-CCDC134 |
| 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 |
| 3UTR-5UTR | ENST00000462050 | ENST00000255784 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 3UTR-5UTR | ENST00000462050 | ENST00000402061 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000340588 | ENST00000255784 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000340588 | ENST00000402061 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000343687 | ENST00000255784 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000343687 | ENST00000402061 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000347800 | ENST00000255784 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000347800 | ENST00000402061 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000361802 | ENST00000255784 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000361802 | ENST00000402061 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000398437 | ENST00000255784 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000398437 | ENST00000402061 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000398449 | ENST00000255784 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000398449 | ENST00000402061 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000398457 | ENST00000255784 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000398457 | ENST00000402061 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 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 ABCG1-CCDC134 |
| 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) |
| ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204878 | + | 1.25E-06 | 0.9999988 |
| ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204878 | + | 1.25E-06 | 0.9999988 |
| ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204878 | + | 1.25E-06 | 0.9999988 |
| ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204878 | + | 1.25E-06 | 0.9999988 |
| 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 ABCG1-CCDC134 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:43714770/:42204879) - 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 |
| ABCG1 | CCDC134 |
| FUNCTION: Catalyzes the efflux of phospholipids such as sphingomyelin, cholesterol and its oxygenated derivatives like 7beta-hydroxycholesterol and this transport is coupled to hydrlysis of ATP (PubMed:17408620, PubMed:24576892). The lipid efflux is ALB-dependent (PubMed:16702602). Is an active component of the macrophage lipid export complex. Could also be involved in intracellular lipid transport processes. The role in cellular lipid homeostasis may not be limited to macrophages. Prevents cell death by transporting cytotoxic 7beta-hydroxycholesterol (PubMed:17408620). {ECO:0000269|PubMed:16702602, ECO:0000269|PubMed:17408620, ECO:0000269|PubMed:24576892}. | FUNCTION: In extracellular secreted form, promotes proliferation and activation of CD8(+) T cells, suggesting a cytokine-like function (PubMed:25125657). Enhances cytotoxic anti-tumor activity of CD8(+) T cells (PubMed:25125657). May inhibit ERK and JNK signaling activity (PubMed:18087676, PubMed:23070808). May suppress cell migration and invasion activity, via its effects on ERK and JNK signaling (PubMed:23070808). {ECO:0000269|PubMed:18087676, ECO:0000269|PubMed:23070808, ECO:0000269|PubMed:25125657}.; FUNCTION: In the nucleus, enhances stability of the PCAF histone acetyltransferase (HAT) complex member TADA2A and thus promotes PCAF-mediated H3K14 and H4K8 HAT activity. May inhibit TADA2A-mediated TP53/p53 'Lys-321' acetylation, leading to reduced TP53 stability and transcriptional activity. May also promote TADA2A-mediated XRCC6 acetylation thus facilitating cell apoptosis in response to DNA damage. {ECO:0000269|PubMed:22644376}. |
| 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 ABCG1-CCDC134 |
| 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 ABCG1-CCDC134 |
| 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 ABCG1-CCDC134 |
| 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 |
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Related Diseases for ABCG1-CCDC134 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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