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Fusion gene ID: 193 |
FusionGeneSummary for ABCG1_CCDC134 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ABCG1_CCDC134 | Fusion gene ID: 193 | 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 | 20180523 | 20180519 | |
| UniProtAcc | P45844 | Q9H6E4 | |
| Ensembl transtripts involved in fusion gene | ENST00000398457, ENST00000462050, ENST00000347800, ENST00000398449, ENST00000361802, ENST00000343687, ENST00000398437, ENST00000340588, | ENST00000402061, ENST00000255784, | |
| Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 1 X 1 X 1=1 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/36*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ABCG1 [Title/Abstract] AND CCDC134 [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 |
| Hgene | ABCG1 | GO:0008203 | cholesterol metabolic process | 15994327 |
| Hgene | ABCG1 | GO:0010033 | response to organic substance | 11500512 |
| 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 |
| 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 |
| TCGA | RV | LUSC | TCGA-43-5670-01A | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| * 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 |
| 5CDS-5UTR | ENST00000398457 | ENST00000402061 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000398457 | ENST00000255784 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 3UTR-5UTR | ENST00000462050 | ENST00000402061 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 3UTR-5UTR | ENST00000462050 | ENST00000255784 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000347800 | ENST00000402061 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000347800 | ENST00000255784 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000398449 | ENST00000402061 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000398449 | ENST00000255784 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000361802 | ENST00000402061 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000361802 | ENST00000255784 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000343687 | ENST00000402061 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000343687 | ENST00000255784 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000398437 | ENST00000402061 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000398437 | ENST00000255784 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000340588 | ENST00000402061 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
| 5CDS-5UTR | ENST00000340588 | ENST00000255784 | ABCG1 | chr21 | 43714770 | + | CCDC134 | chr22 | 42204879 | + |
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FusionProtFeatures for ABCG1_CCDC134 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ABCG1 | CCDC134 |
| In extracellular secreted form, promotes proliferationand activation of CD8(+) T cells, suggesting a cytokine-likefunction (PubMed:25125657). Enhances cytotoxic anti-tumor activityof CD8(+) T cells (PubMed:25125657). May inhibit ERK and JNKsignaling activity (PubMed:18087676, PubMed:23070808). Maysuppress cell migration and invasion activity, via its effects onERK and JNK signaling (PubMed:23070808).{ECO:0000269|PubMed:18087676, ECO:0000269|PubMed:23070808,ECO:0000269|PubMed:25125657}. In the nucleus, enhances stability of the PCAF histoneacetyltransferase (HAT) complex member TADA2A and thus promotesPCAF-mediated H3K14 and H4K8 HAT activity. May inhibit TADA2A-mediated TP53/p53 'Lys-321' acetylation, leading to reduced TP53stability and transcriptional activity. May also promote TADA2A-mediated XRCC6 acetylation thus facilitating cell apoptosis inresponse 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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FusionGeneSequence for ABCG1_CCDC134 |
| 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 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 |
| ABCG1 | ELAVL1, ACSL4, AP1S2, NEDD4 | CCDC134 | UBC, UBQLN4, VCP, MOV10, TCTN1, TRIM25 |
| - 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 ABCG1_CCDC134 |
| 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 ABCG1_CCDC134 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ABCG1 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | ABCG1 | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
| Hgene | ABCG1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | ABCG1 | C0043094 | Weight Gain | 1 | CTD_human |
| Hgene | ABCG1 | C0525045 | Mood Disorders | 1 | PSYGENET |
| Tgene | CCDC134 | C0023903 | Liver neoplasms | 1 | CTD_human |
| Tgene | CCDC134 | C0032927 | Precancerous Conditions | 1 | CTD_human |
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