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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:B2M-CXCR4 (FusionGDB2 ID:HG567TG7852) |
Fusion Gene Summary for B2M-CXCR4 |
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Fusion gene information | Fusion gene name: B2M-CXCR4 | Fusion gene ID: hg567tg7852 | Hgene | Tgene | Gene symbol | B2M | CXCR4 | Gene ID | 567 | 7852 |
Gene name | beta-2-microglobulin | C-X-C motif chemokine receptor 4 | |
Synonyms | IMD43 | CD184|D2S201E|FB22|HM89|HSY3RR|LAP-3|LAP3|LCR1|LESTR|NPY3R|NPYR|NPYRL|NPYY3R|WHIM|WHIMS | |
Cytomap | ('B2M')('CXCR4') 15q21.1 | 2q22.1 | |
Type of gene | protein-coding | protein-coding | |
Description | beta-2-microglobulinbeta chain of MHC class I moleculesbeta-2-microglobin | 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 | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | . | P61073 | |
Ensembl transtripts involved in fusion gene | ENST00000544417, ENST00000558401, ENST00000559916, ENST00000559220, | ||
Fusion gene scores | * DoF score | 32 X 24 X 12=9216 | 6 X 3 X 4=72 |
# samples | 43 | 6 | |
** MAII score | log2(43/9216*10)=-4.42173215185285 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: B2M [Title/Abstract] AND CXCR4 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | B2M(45003811)-CXCR4(136873482), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | B2M-CXCR4 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. B2M-CXCR4 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. B2M-CXCR4 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | B2M | GO:0002726 | positive regulation of T cell cytokine production | 24643698 |
Hgene | B2M | GO:0007611 | learning or memory | 26147761 |
Hgene | B2M | GO:0050680 | negative regulation of epithelial cell proliferation | 28213472 |
Hgene | B2M | GO:0050768 | negative regulation of neurogenesis | 26147761 |
Hgene | B2M | GO:0090647 | modulation of age-related behavioral decline | 26147761 |
Hgene | B2M | GO:1900121 | negative regulation of receptor binding | 9465039 |
Hgene | B2M | GO:1990000 | amyloid fibril formation | 28468825 |
Hgene | B2M | GO:2000774 | positive regulation of cellular senescence | 28213472 |
Hgene | B2M | GO:2000978 | negative regulation of forebrain neuron differentiation | 26147761 |
Tgene | CXCR4 | GO:0007186 | G protein-coupled receptor signaling pathway | 10644702 |
Tgene | CXCR4 | GO:0030155 | regulation of cell adhesion | 19703720 |
Tgene | CXCR4 | GO:0038160 | CXCL12-activated CXCR4 signaling pathway | 28978524 |
Tgene | CXCR4 | GO:0071345 | cellular response to cytokine stimulus | 21540189 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | Non-Cancer | ERR315333 | B2M | chr15 | 45003811 | + | CXCR4 | chr2 | 136873482 | - |
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Fusion Gene ORF analysis for B2M-CXCR4 |
![]() * 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 | ENST00000544417 | ENST00000466288 | B2M | chr15 | 45003811 | + | CXCR4 | chr2 | 136873482 | - |
5CDS-5UTR | ENST00000558401 | ENST00000466288 | B2M | chr15 | 45003811 | + | CXCR4 | chr2 | 136873482 | - |
5CDS-5UTR | ENST00000559916 | ENST00000466288 | B2M | chr15 | 45003811 | + | CXCR4 | chr2 | 136873482 | - |
Frame-shift | ENST00000544417 | ENST00000241393 | B2M | chr15 | 45003811 | + | CXCR4 | chr2 | 136873482 | - |
Frame-shift | ENST00000544417 | ENST00000409817 | B2M | chr15 | 45003811 | + | CXCR4 | chr2 | 136873482 | - |
Frame-shift | ENST00000558401 | ENST00000241393 | B2M | chr15 | 45003811 | + | CXCR4 | chr2 | 136873482 | - |
Frame-shift | ENST00000558401 | ENST00000409817 | B2M | chr15 | 45003811 | + | CXCR4 | chr2 | 136873482 | - |
Frame-shift | ENST00000559916 | ENST00000241393 | B2M | chr15 | 45003811 | + | CXCR4 | chr2 | 136873482 | - |
Frame-shift | ENST00000559916 | ENST00000409817 | B2M | chr15 | 45003811 | + | CXCR4 | chr2 | 136873482 | - |
intron-3CDS | ENST00000559220 | ENST00000241393 | B2M | chr15 | 45003811 | + | CXCR4 | chr2 | 136873482 | - |
intron-3CDS | ENST00000559220 | ENST00000409817 | B2M | chr15 | 45003811 | + | CXCR4 | chr2 | 136873482 | - |
intron-5UTR | ENST00000559220 | ENST00000466288 | B2M | chr15 | 45003811 | + | CXCR4 | chr2 | 136873482 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for B2M-CXCR4 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for B2M-CXCR4 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:45003811/:136873482) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | CXCR4 |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Receptor for the C-X-C chemokine CXCL12/SDF-1 that transduces a signal by increasing intracellular calcium ion levels and enhancing MAPK1/MAPK3 activation (PubMed:10452968, PubMed:28978524, PubMed:18799424, PubMed:24912431). Involved in the AKT signaling cascade (PubMed:24912431). Plays a role in regulation of cell migration, e.g. during wound healing (PubMed:28978524). Acts as a receptor for extracellular ubiquitin; leading to enhanced intracellular calcium ions and reduced cellular cAMP levels (PubMed:20228059). Binds bacterial lipopolysaccharide (LPS) et mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:11276205). Involved in hematopoiesis and in cardiac ventricular septum formation. Also plays an essential role in vascularization of the gastrointestinal tract, probably by regulating vascular branching and/or remodeling processes in endothelial cells. Involved in cerebellar development. In the CNS, could mediate hippocampal-neuron survival (By similarity). {ECO:0000250|UniProtKB:P70658, ECO:0000269|PubMed:10074102, ECO:0000269|PubMed:10452968, ECO:0000269|PubMed:10644702, ECO:0000269|PubMed:10825158, ECO:0000269|PubMed:11276205, ECO:0000269|PubMed:17197449, ECO:0000269|PubMed:18799424, ECO:0000269|PubMed:20048153, ECO:0000269|PubMed:20228059, ECO:0000269|PubMed:20505072, ECO:0000269|PubMed:24912431, ECO:0000269|PubMed:28978524, ECO:0000269|PubMed:8752280, ECO:0000269|PubMed:8752281}.; FUNCTION: (Microbial infection) Acts as a coreceptor (CD4 being the primary receptor) for human immunodeficiency virus-1/HIV-1 X4 isolates and as a primary receptor for some HIV-2 isolates. Promotes Env-mediated fusion of the virus (PubMed:8849450, PubMed:8929542, PubMed:9427609, PubMed:10074122, PubMed:10756055). {ECO:0000269|PubMed:10074122, ECO:0000269|PubMed:10756055, ECO:0000269|PubMed:8849450, ECO:0000269|PubMed:8929542, ECO:0000269|PubMed:9427609}. |
![]() * 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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Fusion Gene Sequence for B2M-CXCR4 |
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Fusion Gene PPI Analysis for B2M-CXCR4 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for B2M-CXCR4 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | CXCR4 | P61073 | DB00452 | Framycetin | Antagonist | Small molecule | Approved |
Tgene | CXCR4 | P61073 | DB06809 | Plerixafor | Antagonist | Small molecule | Approved |
Tgene | CXCR4 | P61073 | DB12698 | Ibalizumab | Antagonist | Biotech | Approved|Investigational |
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Related Diseases for B2M-CXCR4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | B2M | C0022658 | Kidney Diseases | 3 | CTD_human |
Hgene | B2M | C0022660 | Kidney Failure, Acute | 3 | CTD_human |
Hgene | B2M | C1565662 | Acute Kidney Insufficiency | 3 | CTD_human |
Hgene | B2M | C2609414 | Acute kidney injury | 3 | CTD_human |
Hgene | B2M | C1855796 | Hypoproteinemia, Hypercatabolic | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | B2M | C0004364 | Autoimmune Diseases | 1 | CTD_human |
Hgene | B2M | C0013221 | Drug toxicity | 1 | CTD_human |
Hgene | B2M | C0018799 | Heart Diseases | 1 | CTD_human |
Hgene | B2M | C0020455 | Hypergammaglobulinemia | 1 | CTD_human |
Hgene | B2M | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | B2M | C0041755 | Adverse reaction to drug | 1 | CTD_human |
Hgene | B2M | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
Hgene | B2M | C0079774 | Peripheral T-Cell Lymphoma | 1 | CTD_human |
Hgene | B2M | C0268389 | Amyloidosis, familial visceral | 1 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | B2M | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Hgene | B2M | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | B2M | C1858266 | Bare Lymphocyte Syndrome, Type I | 1 | ORPHANET |
Hgene | B2M | C4302669 | Autosomal dominant beta2-microglobulinic amyloidosis | 1 | ORPHANET |
Tgene | C0472817 | WHIM syndrome | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0027627 | Neoplasm Metastasis | 2 | CTD_human | |
Tgene | C0087031 | Juvenile-Onset Still Disease | 2 | CTD_human | |
Tgene | C0340970 | Congenital neutropenia | 2 | GENOMICS_ENGLAND | |
Tgene | C3495559 | Juvenile arthritis | 2 | CTD_human | |
Tgene | C3714758 | Juvenile psoriatic arthritis | 2 | CTD_human | |
Tgene | C4552091 | Polyarthritis, Juvenile, Rheumatoid Factor Negative | 2 | CTD_human | |
Tgene | C4704862 | Polyarthritis, Juvenile, Rheumatoid Factor Positive | 2 | CTD_human | |
Tgene | C0003873 | Rheumatoid Arthritis | 1 | CTD_human | |
Tgene | C0006142 | Malignant neoplasm of breast | 1 | CTD_human | |
Tgene | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human | |
Tgene | C0027626 | Neoplasm Invasiveness | 1 | CTD_human | |
Tgene | C0027719 | Nephrosclerosis | 1 | CTD_human | |
Tgene | C0027796 | Neuralgia | 1 | CTD_human | |
Tgene | C0038870 | Neuralgia, Supraorbital | 1 | CTD_human | |
Tgene | C0042656 | Neuralgia, Vidian | 1 | CTD_human | |
Tgene | C0234247 | Neuralgia, Atypical | 1 | CTD_human | |
Tgene | C0234249 | Neuralgia, Stump | 1 | CTD_human | |
Tgene | C0423711 | Neuralgia, Perineal | 1 | CTD_human | |
Tgene | C0423712 | Neuralgia, Iliohypogastric Nerve | 1 | CTD_human | |
Tgene | C0678222 | Breast Carcinoma | 1 | CTD_human | |
Tgene | C0751371 | Neuralgia, Ilioinguinal | 1 | CTD_human | |
Tgene | C0751372 | Nerve Pain | 1 | CTD_human | |
Tgene | C0751373 | Paroxysmal Nerve Pain | 1 | CTD_human | |
Tgene | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human | |
Tgene | C1458155 | Mammary Neoplasms | 1 | CTD_human | |
Tgene | C1834176 | MYELOKATHEXIS, ISOLATED | 1 | GENOMICS_ENGLAND | |
Tgene | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |