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Fusion gene ID: 395 |
FusionGeneSummary for ACKR3_CASC4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ACKR3_CASC4 | Fusion gene ID: 395 | Hgene | Tgene | Gene symbol | ACKR3 | CASC4 | Gene ID | 57007 | 113201 |
| Gene name | atypical chemokine receptor 3 | cancer susceptibility 4 | |
| Synonyms | CMKOR1|CXC-R7|CXCR-7|CXCR7|GPR159|RDC-1|RDC1 | H63 | |
| Cytomap | 2q37.3 | 15q15.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | atypical chemokine receptor 3C-X-C chemokine receptor type 7G protein-coupled receptorG-protein coupled receptor 159G-protein coupled receptor RDC1 homologchemokine (C-X-C motif) receptor 7chemokine orphan receptor 1 | protein CASC4cancer susceptibility candidate 4cancer susceptibility candidate gene 4 proteingene associated with HER-2/neu overexpression | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P25106 | Q6P4E1 | |
| Ensembl transtripts involved in fusion gene | ENST00000272928, | ENST00000299957, ENST00000360824, ENST00000345795, ENST00000429162, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 5 X 7 X 5=175 |
| # samples | 2 | 9 | |
| ** MAII score | log2(2/1*10)=4.32192809488736 | log2(9/175*10)=-0.959358015502654 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ACKR3 [Title/Abstract] AND CASC4 [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 |
| 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 | BRCA | TCGA-A7-A3J0-01A | ACKR3 | chr2 | 237476484 | + | CASC4 | chr15 | 44671888 | + |
| TCGA | LD | BRCA | TCGA-BH-A18V-01A | ACKR3 | chr2 | 237476484 | + | CASC4 | chr15 | 44671888 | + |
| * 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 |
| intron-3CDS | ENST00000272928 | ENST00000299957 | ACKR3 | chr2 | 237476484 | + | CASC4 | chr15 | 44671888 | + |
| intron-3UTR | ENST00000272928 | ENST00000360824 | ACKR3 | chr2 | 237476484 | + | CASC4 | chr15 | 44671888 | + |
| intron-3UTR | ENST00000272928 | ENST00000345795 | ACKR3 | chr2 | 237476484 | + | CASC4 | chr15 | 44671888 | + |
| intron-intron | ENST00000272928 | ENST00000429162 | ACKR3 | chr2 | 237476484 | + | CASC4 | chr15 | 44671888 | + |
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FusionProtFeatures for ACKR3_CASC4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACKR3 | CASC4 |
| 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 chemokines CXCL11and CXCL12/SDF1. Chemokine binding does not activate G-protein-mediated signal transduction but instead induces beta-arrestinrecruitment, leading to ligand internalization and activation ofMAPK signaling pathway. Required for regulation of CXCR4 proteinlevels in migrating interneurons, thereby adapting their chemokineresponsiveness. In glioma cells, transduces signals via MEK/ERKpathway, mediating resistance to apoptosis. Promotes cell growthand survival. Not involved in cell migration, adhesion orproliferation of normal hematopoietic progenitors but activated byCXCL11 in malignant hemapoietic cells, leading to phosphorylationof ERK1/2 (MAPK3/MAPK1) and enhanced cell adhesion and migration.Plays a regulatory role in CXCR4-mediated activation of cellsurface integrins by CXCL12. Required for heart valve development.Acts as coreceptor with CXCR4 for a restricted number of HIVisolates. {ECO:0000269|PubMed:16107333,ECO:0000269|PubMed:16940167, ECO:0000269|PubMed:17804806,ECO:0000269|PubMed:18653785, ECO:0000269|PubMed:19255243,ECO:0000269|PubMed:19380869, ECO:0000269|PubMed:19641136,ECO:0000269|PubMed:20018651, ECO:0000269|PubMed:20161793,ECO:0000269|PubMed:20388803, ECO:0000269|PubMed:20887389,ECO:0000269|PubMed:22300987}. |
| 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 ACKR3_CASC4 |
| 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 ACKR3_CASC4 |
| 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 |
| ACKR3 | ATP13A2, ATP5B, ATP5A1, ATP5D, ATP5O, ESPL1, ATP5H, MRPL4, UBR7, GJB2, HECTD2, TP53 | CASC4 | VDR, ELAVL1, APP, GRAMD3, PTPN1, PTPN2, SYNC, SPPL2B, 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 ACKR3_CASC4 |
| 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 ACKR3_CASC4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ACKR3 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Hgene | ACKR3 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | ACKR3 | C0022658 | Kidney Diseases | 1 | CTD_human |
| Hgene | ACKR3 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | ACKR3 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | CASC4 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
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