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Fusion gene ID: 9070 |
FusionGeneSummary for CXCR4_TSC22D3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CXCR4_TSC22D3 | Fusion gene ID: 9070 | Hgene | Tgene | Gene symbol | CXCR4 | TSC22D3 | Gene ID | 7852 | 1831 |
| Gene name | C-X-C motif chemokine receptor 4 | TSC22 domain family member 3 | |
| Synonyms | CD184|D2S201E|FB22|HM89|HSY3RR|LAP-3|LAP3|LCR1|LESTR|NPY3R|NPYR|NPYRL|NPYY3R|WHIM|WHIMS | DIP|DSIPI|GILZ|TSC-22R | |
| Cytomap | 2q22.1 | Xq22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | C-X-C chemokine receptor type 4CD184 antigenLPS-associated protein 3SDF-1 receptorchemokine (C-X-C motif) receptor 4chemokine receptorfusinleukocyte-derived seven transmembrane domain receptorlipopolysaccharide-associated protein 3neuropeptide Y | TSC22 domain family protein 3DSIP-immunoreactive leucine zipper proteinDSIP-immunoreactive peptideTSC-22 related proteinTSC-22-like proteindelta sleep-inducing peptide immunoreactorglucocorticoid-induced leucine zipper protein | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | P61073 | Q99576 | |
| Ensembl transtripts involved in fusion gene | ENST00000409817, ENST00000241393, ENST00000466288, | ENST00000372390, ENST00000372397, ENST00000315660, ENST00000372383, ENST00000372384, ENST00000372382, ENST00000506081, ENST00000514426, | |
| Fusion gene scores | * DoF score | 3 X 1 X 2=6 | 4 X 4 X 2=32 |
| # samples | 3 | 5 | |
| ** MAII score | log2(3/6*10)=2.32192809488736 | log2(5/32*10)=0.643856189774725 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CXCR4 [Title/Abstract] AND TSC22D3 [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 | CXCR4 | GO:0007186 | G-protein coupled receptor signaling pathway | 10644702 |
| Hgene | CXCR4 | GO:0071345 | cellular response to cytokine stimulus | 21540189 |
| 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 |
| ChiTaRS3.1 | CT004483 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| * 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-5UTR | ENST00000409817 | ENST00000372390 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| intron-5UTR | ENST00000409817 | ENST00000372397 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| intron-5UTR | ENST00000409817 | ENST00000315660 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| intron-5UTR | ENST00000409817 | ENST00000372383 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| intron-5UTR | ENST00000409817 | ENST00000372384 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| intron-5UTR | ENST00000409817 | ENST00000372382 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| intron-5UTR | ENST00000409817 | ENST00000506081 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| intron-5UTR | ENST00000409817 | ENST00000514426 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| 5CDS-5UTR | ENST00000241393 | ENST00000372390 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| 5CDS-5UTR | ENST00000241393 | ENST00000372397 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| 5CDS-5UTR | ENST00000241393 | ENST00000315660 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| 5CDS-5UTR | ENST00000241393 | ENST00000372383 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| 5CDS-5UTR | ENST00000241393 | ENST00000372384 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| 5CDS-5UTR | ENST00000241393 | ENST00000372382 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| 5CDS-5UTR | ENST00000241393 | ENST00000506081 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| 5CDS-5UTR | ENST00000241393 | ENST00000514426 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| intron-5UTR | ENST00000466288 | ENST00000372390 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| intron-5UTR | ENST00000466288 | ENST00000372397 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| intron-5UTR | ENST00000466288 | ENST00000315660 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| intron-5UTR | ENST00000466288 | ENST00000372383 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| intron-5UTR | ENST00000466288 | ENST00000372384 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| intron-5UTR | ENST00000466288 | ENST00000372382 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| intron-5UTR | ENST00000466288 | ENST00000506081 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
| intron-5UTR | ENST00000466288 | ENST00000514426 | CXCR4 | chr2 | 136875616 | - | TSC22D3 | chrX | 106959180 | - |
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FusionProtFeatures for CXCR4_TSC22D3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CXCR4 | TSC22D3 |
| Receptor for the C-X-C chemokine CXCL12/SDF-1 thattransduces a signal by increasing intracellular calcium ion levelsand enhancing MAPK1/MAPK3 activation. Acts as a receptor forextracellular ubiquitin; leading to enhanced intracellular calciumions and reduced cellular cAMP levels. Involved in hematopoiesisand in cardiac ventricular septum formation. Also plays anessential role in vascularization of the gastrointestinal tract,probably by regulating vascular branching and/or remodelingprocesses in endothelial cells. Involved in cerebellardevelopment. In the CNS, could mediate hippocampal-neuronsurvival. {ECO:0000269|PubMed:10074102,ECO:0000269|PubMed:10644702, ECO:0000269|PubMed:10825158,ECO:0000269|PubMed:11276205, ECO:0000269|PubMed:17197449,ECO:0000269|PubMed:20048153, ECO:0000269|PubMed:20228059,ECO:0000269|PubMed:20505072, ECO:0000269|PubMed:8752280,ECO:0000269|PubMed:8752281}. (Microbial infection) Acts as a coreceptor (CD4 beingthe primary receptor) for human immunodeficiency virus-1/HIV-1 X4isolates and as a primary receptor for some HIV-2 isolates.Promotes Env-mediated fusion of the virus (PubMed:9427609,PubMed:10074122, PubMed:10756055). {ECO:0000269|PubMed:10074122,ECO:0000269|PubMed:10756055, ECO:0000269|PubMed:9427609}. (Microbial infection) Binds bacterial lipopolysaccharide(LPS) et mediates LPS-induced inflammatory response, including TNFsecretion by monocytes. {ECO:0000269|PubMed:11276205}. | Protects T-cells from IL2 deprivation-induced apoptosisthrough the inhibition of FOXO3A transcriptional activity thatleads to the down-regulation of the pro-apoptotic factor BCL2L11.In macrophages, plays a role in the anti-inflammatory andimmunosuppressive effects of glucocorticoids and IL10. In T-cells,inhibits anti-CD3-induced NFKB1 nuclear translocation. In vitro,suppresses AP1 and NFKB1 DNA-binding activities (By similarity).Isoform 1 inhibits myogenic differentiation and mediates anti-myogenic effects of glucocorticoids by binding and regulatingMYOD1 and HDAC1 transcriptional activity resulting in reducedexpression of MYOG (By similarity). {ECO:0000250,ECO:0000269|PubMed:15031210}. |
| 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 CXCR4_TSC22D3 |
| 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 CXCR4_TSC22D3 |
| 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 |
| CXCR4 | CCR5, JAK3, JAK2, PTPN6, ADRBK2, PTK2, SOCS3, CD4, ITCH, USP14, STAM, CAV1, PTPN11, CXCL12, ATP13A2, ST13, P4HB, MYBL2, CXCR5, GNA13, B2M, HLA-B, GOLT1B, TMEM63B, CD79B, LPAR1, IPPK, VIPR2, GCNT3, B4GAT1, TMEM171, CCDC107, NTRK3, NT5E, SLC1A1 | TSC22D3 | PLEKHF2, HPCAL4, RAF1, FOS, JUN, TSC22D3, NFKB1, NFKB2, MYOD1, HDAC1, HDAC2, UBC, SGK1, UBE2I, SUMO1, CASP8, PCK1, ELAVL1, SCNN1B, NEDD4L, MTA2, DCLK2, TP53, MDM2, MAD1L1, C19orf57, ENDOV, EID3, TSC22D4, ALDH3B1, FIGNL1, TSC22D2, TSC22D1, RCCD1, FAM117B, NRBP1, KIAA1683, CEP55, CDC42SE2, SIRT6, UBE3D, NUFIP2, AGAP3 |
| - 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 CXCR4_TSC22D3 |
| 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 |
| Hgene | CXCR4 | P61073 | DB00452 | Framycetin | C-X-C chemokine receptor type 4 | small molecule | approved |
| Hgene | CXCR4 | P61073 | DB06809 | Plerixafor | C-X-C chemokine receptor type 4 | small molecule | approved |
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RelatedDiseases for CXCR4_TSC22D3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CXCR4 | C0027627 | Neoplasm Metastasis | 2 | CTD_human |
| Hgene | CXCR4 | C3495559 | Juvenile arthritis | 2 | CTD_human |
| Hgene | CXCR4 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Hgene | CXCR4 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Hgene | CXCR4 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | CXCR4 | C0027796 | Neuralgia | 1 | CTD_human |
| Hgene | CXCR4 | C0472817 | WHIM syndrome | 1 | CTD_human;ORPHANET |
| Hgene | CXCR4 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | TSC22D3 | C0020459 | Hyperinsulinism | 1 | CTD_human |
| Tgene | TSC22D3 | C0021364 | Male infertility | 1 | CTD_human |
| Tgene | TSC22D3 | C0039584 | Testicular Diseases | 1 | CTD_human |
| Tgene | TSC22D3 | C1262477 | Weight decreased | 1 | CTD_human |
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