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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:APLP1-B2M (FusionGDB2 ID:HG333TG567) |
Fusion Gene Summary for APLP1-B2M |
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Fusion gene information | Fusion gene name: APLP1-B2M | Fusion gene ID: hg333tg567 | Hgene | Tgene | Gene symbol | APLP1 | B2M | Gene ID | 333 | 567 |
Gene name | amyloid beta precursor like protein 1 | beta-2-microglobulin | |
Synonyms | APLP | IMD43 | |
Cytomap | ('APLP1')('B2M') 19q13.12 | 15q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | amyloid-like protein 1amyloid beta (A4) precursor-like protein 1amyloid precursor-like protein 1 | beta-2-microglobulinbeta chain of MHC class I moleculesbeta-2-microglobin | |
Modification date | 20200313 | 20200329 | |
UniProtAcc | P51693 | . | |
Ensembl transtripts involved in fusion gene | ENST00000221891, ENST00000537454, ENST00000586861, ENST00000589298, | ||
Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 64 X 31 X 17=33728 |
# samples | 3 | 71 | |
** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(71/33728*10)=-5.56998393724517 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: APLP1 [Title/Abstract] AND B2M [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | APLP1(36370261)-B2M(45003724), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 | APLP1 | GO:0071874 | cellular response to norepinephrine stimulus | 16531006 |
Hgene | APLP1 | GO:0106072 | negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway | 16531006 |
Tgene | B2M | GO:0002726 | positive regulation of T cell cytokine production | 24643698 |
Tgene | B2M | GO:0007611 | learning or memory | 26147761 |
Tgene | B2M | GO:0050680 | negative regulation of epithelial cell proliferation | 28213472 |
Tgene | B2M | GO:0050768 | negative regulation of neurogenesis | 26147761 |
Tgene | B2M | GO:0090647 | modulation of age-related behavioral decline | 26147761 |
Tgene | B2M | GO:1900121 | negative regulation of receptor binding | 9465039 |
Tgene | B2M | GO:1990000 | amyloid fibril formation | 28468825 |
Tgene | B2M | GO:2000774 | positive regulation of cellular senescence | 28213472 |
Tgene | B2M | GO:2000978 | negative regulation of forebrain neuron differentiation | 26147761 |
![]() * 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 |
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Fusion Gene ORF analysis for APLP1-B2M |
![]() * 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 |
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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 APLP1-B2M |
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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 APLP1-B2M |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:36370261/:45003724) - 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 |
APLP1 | . |
FUNCTION: May play a role in postsynaptic function. The C-terminal gamma-secretase processed fragment, ALID1, activates transcription activation through APBB1 (Fe65) binding (By similarity). Couples to JIP signal transduction through C-terminal binding. May interact with cellular G-protein signaling pathways. Can regulate neurite outgrowth through binding to components of the extracellular matrix such as heparin and collagen I. {ECO:0000250}.; FUNCTION: The gamma-CTF peptide, C30, is a potent enhancer of neuronal apoptosis. {ECO:0000250}. | 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}. |
![]() * 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 APLP1-B2M |
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Fusion Gene PPI Analysis for APLP1-B2M |
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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 APLP1-B2M |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | APLP1 | P51693 | DB14548 | Zinc sulfate, unspecified form | Ligand | Small molecule | Approved|Experimental |
Hgene | APLP1 | P51693 | DB01593 | Zinc | Cofactor | Small molecule | Approved|Investigational |
Hgene | APLP1 | P51693 | DB09130 | Copper | Cofactor | Small molecule | Approved|Investigational |
Hgene | APLP1 | P51693 | DB14487 | Zinc acetate | Small molecule | Approved|Investigational | |
Hgene | APLP1 | P51693 | DB14533 | Zinc chloride | Ligand | Small molecule | Approved|Investigational |
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Related Diseases for APLP1-B2M |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0022658 | Kidney Diseases | 3 | CTD_human | |
Tgene | C0022660 | Kidney Failure, Acute | 3 | CTD_human | |
Tgene | C1565662 | Acute Kidney Insufficiency | 3 | CTD_human | |
Tgene | C2609414 | Acute kidney injury | 3 | CTD_human | |
Tgene | C1855796 | Hypoproteinemia, Hypercatabolic | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0004364 | Autoimmune Diseases | 1 | CTD_human | |
Tgene | C0013221 | Drug toxicity | 1 | CTD_human | |
Tgene | C0018799 | Heart Diseases | 1 | CTD_human | |
Tgene | C0020455 | Hypergammaglobulinemia | 1 | CTD_human | |
Tgene | C0033578 | Prostatic Neoplasms | 1 | CTD_human | |
Tgene | C0041755 | Adverse reaction to drug | 1 | CTD_human | |
Tgene | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human | |
Tgene | C0079774 | Peripheral T-Cell Lymphoma | 1 | CTD_human | |
Tgene | C0268389 | Amyloidosis, familial visceral | 1 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human | |
Tgene | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human | |
Tgene | C1858266 | Bare Lymphocyte Syndrome, Type I | 1 | ORPHANET | |
Tgene | C4302669 | Autosomal dominant beta2-microglobulinic amyloidosis | 1 | ORPHANET |