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Fusion gene ID: 2166 |
FusionGeneSummary for APLP1_B2M |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: APLP1_B2M | Fusion gene ID: 2166 | 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 | 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 | 20180519 | 20180523 | |
| UniProtAcc | P51693 | P61769 | |
| Ensembl transtripts involved in fusion gene | ENST00000537454, ENST00000221891, ENST00000586861, ENST00000589298, | ENST00000558401, ENST00000559916, ENST00000544417, ENST00000559220, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 14 X 19 X 3=798 |
| # samples | 3 | 23 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(23/798*10)=-1.79475488527797 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] | ||
| 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 | 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:1900121 | negative regulation of receptor binding | 9465039 |
| 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 | BI195738 | APLP1 | chr19 | 36370261 | + | B2M | chr15 | 45003724 | + |
| * 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 |
| 5CDS-5UTR | ENST00000537454 | ENST00000558401 | APLP1 | chr19 | 36370261 | + | B2M | chr15 | 45003724 | + |
| 5CDS-5UTR | ENST00000537454 | ENST00000559916 | APLP1 | chr19 | 36370261 | + | B2M | chr15 | 45003724 | + |
| 5CDS-5UTR | ENST00000537454 | ENST00000544417 | APLP1 | chr19 | 36370261 | + | B2M | chr15 | 45003724 | + |
| 5CDS-intron | ENST00000537454 | ENST00000559220 | APLP1 | chr19 | 36370261 | + | B2M | chr15 | 45003724 | + |
| 5CDS-5UTR | ENST00000221891 | ENST00000558401 | APLP1 | chr19 | 36370261 | + | B2M | chr15 | 45003724 | + |
| 5CDS-5UTR | ENST00000221891 | ENST00000559916 | APLP1 | chr19 | 36370261 | + | B2M | chr15 | 45003724 | + |
| 5CDS-5UTR | ENST00000221891 | ENST00000544417 | APLP1 | chr19 | 36370261 | + | B2M | chr15 | 45003724 | + |
| 5CDS-intron | ENST00000221891 | ENST00000559220 | APLP1 | chr19 | 36370261 | + | B2M | chr15 | 45003724 | + |
| 5CDS-5UTR | ENST00000586861 | ENST00000558401 | APLP1 | chr19 | 36370261 | + | B2M | chr15 | 45003724 | + |
| 5CDS-5UTR | ENST00000586861 | ENST00000559916 | APLP1 | chr19 | 36370261 | + | B2M | chr15 | 45003724 | + |
| 5CDS-5UTR | ENST00000586861 | ENST00000544417 | APLP1 | chr19 | 36370261 | + | B2M | chr15 | 45003724 | + |
| 5CDS-intron | ENST00000586861 | ENST00000559220 | APLP1 | chr19 | 36370261 | + | B2M | chr15 | 45003724 | + |
| intron-5UTR | ENST00000589298 | ENST00000558401 | APLP1 | chr19 | 36370261 | + | B2M | chr15 | 45003724 | + |
| intron-5UTR | ENST00000589298 | ENST00000559916 | APLP1 | chr19 | 36370261 | + | B2M | chr15 | 45003724 | + |
| intron-5UTR | ENST00000589298 | ENST00000544417 | APLP1 | chr19 | 36370261 | + | B2M | chr15 | 45003724 | + |
| intron-intron | ENST00000589298 | ENST00000559220 | APLP1 | chr19 | 36370261 | + | B2M | chr15 | 45003724 | + |
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FusionProtFeatures for APLP1_B2M |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| APLP1 | B2M |
| May play a role in postsynaptic function. The C-terminalgamma-secretase processed fragment, ALID1, activates transcriptionactivation through APBB1 (Fe65) binding (By similarity). Couplesto JIP signal transduction through C-terminal binding. Mayinteract with cellular G-protein signaling pathways. Can regulateneurite outgrowth through binding to components of theextracellular matrix such as heparin and collagen I.{ECO:0000250}. The gamma-CTF peptide, C30, is a potent enhancer ofneuronal apoptosis. {ECO:0000250}. | Component of the class I major histocompatibilitycomplex (MHC). Involved in the presentation of peptide antigens tothe immune system. Exogenously applied M.tuberculosis EsxA orEsxA-EsxB (or EsxA expressed in host) binds B2M and decreases itsexport to the cell surface (total protein levels do not change),probably leading to defects in class I antigen presentation(PubMed:25356553). {ECO:0000269|PubMed:25356553}. |
| 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 APLP1_B2M |
| 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 APLP1_B2M |
| 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 |
| - 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 APLP1_B2M |
| 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 | APLP1 | P51693 | DB01593 | Zinc | Amyloid-like protein 1 | small molecule | approved|investigational |
| Tgene | B2M | P61769 | DB00254 | Doxycycline | Beta-2-microglobulin | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for APLP1_B2M |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | B2M | C0022658 | Kidney Diseases | 3 | CTD_human;HPO |
| Tgene | B2M | C2609414 | Acute kidney injury | 2 | CTD_human |
| Tgene | B2M | C0004364 | Autoimmune Diseases | 1 | CTD_human |
| Tgene | B2M | C0018799 | Heart Diseases | 1 | CTD_human |
| Tgene | B2M | C0020455 | Hypergammaglobulinemia | 1 | CTD_human |
| Tgene | B2M | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | B2M | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | B2M | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
| Tgene | B2M | C0079774 | Peripheral T-Cell Lymphoma | 1 | CTD_human |
| Tgene | B2M | C0268389 | Amyloidosis, familial visceral | 1 | UNIPROT |
| Tgene | B2M | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Tgene | B2M | C1855796 | Hypoproteinemia, Hypercatabolic | 1 | CTD_human;UNIPROT |
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