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Fusion gene ID: 393 |
FusionGeneSummary for ACKR2_POMGNT2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ACKR2_POMGNT2 | Fusion gene ID: 393 | Hgene | Tgene | Gene symbol | ACKR2 | POMGNT2 | Gene ID | 1238 | 84892 |
| Gene name | atypical chemokine receptor 2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
| Synonyms | CCBP2|CCR10|CCR9|CMKBR9|D6|hD6 | AGO61|C3orf39|GTDC2|MDDGA8 | |
| Cytomap | 3p22.1 | 3p22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | atypical chemokine receptor 2C-C chemokine receptor D6CC-chemokine-binding receptor JAB61chemokine (C-C motif) receptor 9chemokine (C-C) receptor 9chemokine receptor CCR-10chemokine receptor CCR-9chemokine receptor D6chemokine-binding protein 2ch | protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2glycosyltransferase-like domain containing 2glycosyltransferase-like domain-containing protein 2 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | O00590 | Q8NAT1 | |
| Ensembl transtripts involved in fusion gene | ENST00000565749, ENST00000442925, ENST00000422265, ENST00000273145, | ENST00000441964, ENST00000344697, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 4 X 1 X 3=12 |
| # samples | 3 | 3 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ACKR2 [Title/Abstract] AND POMGNT2 [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 |
| Tgene | POMGNT2 | GO:0006493 | protein O-linked glycosylation | 23929950 |
| 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 | LD | BLCA | TCGA-BL-A13J-01A | ACKR2 | chr3 | 42851024 | + | POMGNT2 | chr3 | 43123028 | - |
| * 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 |
| 3UTR-5UTR | ENST00000565749 | ENST00000441964 | ACKR2 | chr3 | 42851024 | + | POMGNT2 | chr3 | 43123028 | - |
| 3UTR-5UTR | ENST00000565749 | ENST00000344697 | ACKR2 | chr3 | 42851024 | + | POMGNT2 | chr3 | 43123028 | - |
| 5UTR-5UTR | ENST00000442925 | ENST00000441964 | ACKR2 | chr3 | 42851024 | + | POMGNT2 | chr3 | 43123028 | - |
| 5UTR-5UTR | ENST00000442925 | ENST00000344697 | ACKR2 | chr3 | 42851024 | + | POMGNT2 | chr3 | 43123028 | - |
| 5UTR-5UTR | ENST00000422265 | ENST00000441964 | ACKR2 | chr3 | 42851024 | + | POMGNT2 | chr3 | 43123028 | - |
| 5UTR-5UTR | ENST00000422265 | ENST00000344697 | ACKR2 | chr3 | 42851024 | + | POMGNT2 | chr3 | 43123028 | - |
| intron-5UTR | ENST00000273145 | ENST00000441964 | ACKR2 | chr3 | 42851024 | + | POMGNT2 | chr3 | 43123028 | - |
| intron-5UTR | ENST00000273145 | ENST00000344697 | ACKR2 | chr3 | 42851024 | + | POMGNT2 | chr3 | 43123028 | - |
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FusionProtFeatures for ACKR2_POMGNT2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACKR2 | POMGNT2 |
| Atypical chemokine receptor that controls chemokinelevels and localization via high-affinity chemokine binding thatis uncoupled from classic ligand-driven signal transductioncascades, resulting instead in chemokine sequestration,degradation, or transcytosis. Also known as interceptor(internalizing receptor) or chemokine-scavenging receptor orchemokine decoy receptor. Acts as a receptor for chemokinesincluding CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11,CCL13, CCL17, CCL22, CCL23, CCL24, SCYA2/MCP-1, SCY3/MIP-1-alpha,SCYA5/RANTES and SCYA7/MCP-3. Upon active ligand stimulation,activates a beta-arrestin 1 (ARRB1)-dependent, G protein-independent signaling pathway that results in the phosphorylationof the actin-binding protein cofilin (CFL1) through a RAC1-PAK1-LIMK1 signaling pathway. Activation of this pathway results in up-regulation of ACKR2 from endosomal compartment to cell membrane,increasing its efficiency in chemokine uptake and degradation. Byscavenging chemokines in tissues, on the surfaces of lymphaticvessels, and in placenta, plays an essential role in theresolution (termination) of the inflammatory response and in theregulation of adaptive immune responses. Plays a major role in theimmune silencing of macrophages during the resolution ofinflammation. Acts as a regulator of inflammatory leukocyteinteractions with lymphatic endothelial cells (LECs) and isrequired for immature/mature dendritic cells discrimination byLECs. {ECO:0000269|PubMed:23479571, ECO:0000269|PubMed:23633677}. | O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that transfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in thebiosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-likedomain-containing extracellular proteins with high affinity.{ECO:0000269|PubMed:23929950}. |
| 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 ACKR2_POMGNT2 |
| 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 ACKR2_POMGNT2 |
| 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 |
| ACKR2 | CCL8, CCL5, CCL7, CCL13, CCL14, APP, CDK18 | POMGNT2 | APP, FBXO6, NOTCH2NL, ATP1B3, NRG1, IDS, NPDC1, PLAUR, PTCH1, WBP1, CHRNA9, PON2, FOXL2, PECR, SLC9A6, FKBP14, SCGB2A2, FAM19A4, NOB1, EIF4E2, 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 ACKR2_POMGNT2 |
| 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 ACKR2_POMGNT2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | POMGNT2 | C3553813 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | 1 | UNIPROT |
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