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Fusion gene ID: 6147 |
FusionGeneSummary for CD274_IGFBPL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CD274_IGFBPL1 | Fusion gene ID: 6147 | Hgene | Tgene | Gene symbol | CD274 | IGFBPL1 | Gene ID | 29126 | 347252 |
| Gene name | CD274 molecule | insulin like growth factor binding protein like 1 | |
| Synonyms | B7-H|B7H1|PD-L1|PDCD1L1|PDCD1LG1|PDL1 | IGFBP-RP4|IGFBPRP4|bA113O24.1 | |
| Cytomap | 9p24.1 | 9p13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | programmed cell death 1 ligand 1B7 homolog 1CD274 antigenPDCD1 ligand 1 | insulin-like growth factor-binding protein-like 1IGFBP-related protein 10insulin-like growth factor binding protein related protein 4insulin-like growth factor-binding-related protein 4 | |
| Modification date | 20180527 | 20180329 | |
| UniProtAcc | Q9NZQ7 | Q8WX77 | |
| Ensembl transtripts involved in fusion gene | ENST00000381573, ENST00000381577, ENST00000498261, | ENST00000377694, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 2=8 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: CD274 [Title/Abstract] AND IGFBPL1 [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 | CD274 | GO:0006955 | immune response | 10581077 |
| Hgene | CD274 | GO:0007165 | signal transduction | 10581077 |
| Hgene | CD274 | GO:0007166 | cell surface receptor signaling pathway | 10581077 |
| Hgene | CD274 | GO:0031295 | T cell costimulation | 10581077 |
| Hgene | CD274 | GO:0034097 | response to cytokine | 17489864 |
| Hgene | CD274 | GO:1905399 | regulation of activated CD4-positive, alpha-beta T cell apoptotic process | 24187568 |
| Hgene | CD274 | GO:1905404 | positive regulation of activated CD8-positive, alpha-beta T cell apoptotic process | 24187568 |
| Hgene | CD274 | GO:2001181 | positive regulation of interleukin-10 secretion | 10581077 |
| 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 | STAD | TCGA-CG-4477-01A | CD274 | chr9 | 5465606 | + | IGFBPL1 | chr9 | 38409214 | - |
| * 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-3UTR | ENST00000381573 | ENST00000377694 | CD274 | chr9 | 5465606 | + | IGFBPL1 | chr9 | 38409214 | - |
| 5CDS-3UTR | ENST00000381577 | ENST00000377694 | CD274 | chr9 | 5465606 | + | IGFBPL1 | chr9 | 38409214 | - |
| intron-3UTR | ENST00000498261 | ENST00000377694 | CD274 | chr9 | 5465606 | + | IGFBPL1 | chr9 | 38409214 | - |
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FusionProtFeatures for CD274_IGFBPL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CD274 | IGFBPL1 |
| Plays a critical role in induction and maintenance ofimmune tolerance to self. As a ligand for the inhibitory receptorPDCD1/CD279, modulates the activation threshold of T-cells andlimits T-cell effector response (PubMed:11015443). ThePDCD1/CD279-mediated inhibitory pathway is exploited by tumors toattenuate anti-tumor immunity and facilitate tumor survival(PubMed:28813417, PubMed:28813410). Through a yet unknownactivating receptor, may costimulate T-cell subsets thatpredominantly produce interleukin-10 (IL10) (PubMed:10581077).{ECO:0000269|PubMed:10581077, ECO:0000269|PubMed:11015443,ECO:0000269|PubMed:28813410, ECO:0000269|PubMed:28813417}. | IGF-binding proteins prolong the half-life of IGFs andhave been shown to either inhibit or stimulate the growthpromoting effects of the IGFs in cell culture. They alter theinteraction of IGFs with their cell surface receptors (Bysimilarity). May be a putative tumor suppressor protein.{ECO:0000250, ECO:0000269|PubMed:15845387}. |
| 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 CD274_IGFBPL1 |
| 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 CD274_IGFBPL1 |
| 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 |
| CD274 | PTPN11, CD80, PDCD1, SLC39A11, THADA, XPO7, UTP20, GCN1L1, XPO6, IPO7, ATR, TMEM160, TNPO2, TNPO1, SAAL1, TTI1, HEATR1, COG2, EXOC1, HIP1R, XPO4, USP22, PI4KA, EXOC7, INTS2, NUP85, KIAA1524, RINT1, CDK5RAP3, COG1, MTOR, COG3, TNPO3, ATM, COG7, KIF14, STAG1, COG4, VAC14, NF1, PDS5B, SLC7A3, COG5, FAM114A2, MINPP1, DOLK, GSK3B, COG8 | IGFBPL1 |
| - 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 CD274_IGFBPL1 |
| 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 CD274_IGFBPL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CD274 | C0020517 | Hypersensitivity | 2 | CTD_human |
| Hgene | CD274 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| Hgene | CD274 | C2239176 | Liver carcinoma | 1 | CTD_human |
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