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Fusion gene ID: 2116 |
FusionGeneSummary for APBA1_RAD23B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: APBA1_RAD23B | Fusion gene ID: 2116 | Hgene | Tgene | Gene symbol | APBA1 | RAD23B | Gene ID | 320 | 5887 |
| Gene name | amyloid beta precursor protein binding family A member 1 | RAD23 homolog B, nucleotide excision repair protein | |
| Synonyms | D9S411E|LIN10|MINT1|X11|X11A|X11ALPHA | HHR23B|HR23B|P58 | |
| Cytomap | 9q21.12 | 9q31.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | amyloid-beta A4 precursor protein-binding family A member 1adapter protein X11alphaadaptor protein X11alphaamyloid beta (A4) precursor protein-binding, family A, member 1 (X11)mint-1neuron-specific X11 proteinneuronal munc18-1-interacting protein 1 | UV excision repair protein RAD23 homolog BRAD23, yeast homolog of, BXP-C repair complementing complex 58 kDaXP-C repair complementing proteinXP-C repair-complementing complex 58 kDa protein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q02410 | P54727 | |
| Ensembl transtripts involved in fusion gene | ENST00000265381, ENST00000470082, | ENST00000358015, ENST00000416373, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 6 X 4 X 5=120 |
| # samples | 2 | 6 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: APBA1 [Title/Abstract] AND RAD23B [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 |
| Tgene | RAD23B | GO:0000715 | nucleotide-excision repair, DNA damage recognition | 19941824 |
| Tgene | RAD23B | GO:0006289 | nucleotide-excision repair | 8168482|9734359 |
| Tgene | RAD23B | GO:0032434 | regulation of proteasomal ubiquitin-dependent protein catabolic process | 19435460 |
| 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 | RV | PRAD | TCGA-KK-A8I9-01A | APBA1 | chr9 | 72287069 | - | RAD23B | chr9 | 110068660 | + |
| * 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 |
| 5UTR-3CDS | ENST00000265381 | ENST00000358015 | APBA1 | chr9 | 72287069 | - | RAD23B | chr9 | 110068660 | + |
| 5UTR-3CDS | ENST00000265381 | ENST00000416373 | APBA1 | chr9 | 72287069 | - | RAD23B | chr9 | 110068660 | + |
| intron-3CDS | ENST00000470082 | ENST00000358015 | APBA1 | chr9 | 72287069 | - | RAD23B | chr9 | 110068660 | + |
| intron-3CDS | ENST00000470082 | ENST00000416373 | APBA1 | chr9 | 72287069 | - | RAD23B | chr9 | 110068660 | + |
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FusionProtFeatures for APBA1_RAD23B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| APBA1 | RAD23B |
| Putative function in synaptic vesicle exocytosis bybinding to Munc18-1, an essential component of the synapticvesicle exocytotic machinery. May modulate processing of theamyloid-beta precursor protein (APP) and hence formation of APP-beta. | Multiubiquitin chain receptor involved in modulation ofproteasomal degradation. Binds to polyubiquitin chains. Proposedto be capable to bind simultaneously to the 26S proteasome and topolyubiquitinated substrates and to deliver ubiquitinated proteinsto the proteasome. May play a role in endoplasmic reticulum-associated degradation (ERAD) of misfolded glycoproteins byassociation with PNGase and delivering deglycosylated proteins tothe proteasome. Involved in global genome nucleotide excision repair(GG-NER) by acting as component of the XPC complex. Cooperativelywith CETN2 appears to stabilize XPC. May protect XPC fromproteasomal degradation. The XPC complex is proposed to represent the firstfactor bound at the sites of DNA damage and together with othercore recognition factors, XPA, RPA and the TFIIH complex, is partof the pre-incision (or initial recognition) complex. The XPCcomplex recognizes a wide spectrum of damaged DNA characterized bydistortions of the DNA helix such as single-stranded loops,mismatched bubbles or single-stranded overhangs. The orientationof XPC complex binding appears to be crucial for inducing aproductive NER. XPC complex is proposed to recognize and tointeract with unpaired bases on the undamaged DNA strand which isfollowed by recruitment of the TFIIH complex and subsequentscanning for lesions in the opposite strand in a 5'-to-3'direction by the NER machinery. Cyclobutane pyrimidine dimers(CPDs) which are formed upon UV-induced DNA damage esacpedetection by the XPC complex due to a low degree of structuralperurbation. Instead they are detected by the UV-DDB complex whichin turn recruits and cooperates with the XPC complex in therespective DNA repair. In vitro, the XPC:RAD23B dimer issufficient to initiate NER; it preferentially binds to cisplatinand UV-damaged double-stranded DNA and also binds to a variety ofchemically and structurally diverse DNA adducts. XPC:RAD23Bcontacts DNA both 5' and 3' of a cisplatin lesion with apreference for the 5' side. XPC:RAD23B induces a bend in DNA uponbinding. XPC:RAD23B stimulates the activity of DNA glycosylasesTDG and SMUG1. |
| 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 APBA1_RAD23B |
| 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 APBA1_RAD23B |
| 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 |
| APBA1 | KCNJ12, DLG1, LIN7B, LIN7C, APP, PSEN2, HTR2C, CNTNAP4, CNTNAP3, CCS, CASK, STXBP1, APBA2 | RAD23B | PSMD4, XPC, ATXN3, PAX3, OTUD1, UCHL5, UBE3A, RNF185, UBC, CALM1, PSMA3, DEAF1, DBI, GTF2H1, ELAVL1, NGLY1, HIF1A, PSMA2, ADRM1, RAD23A, HMGB1, RPA1, UBA1, USP5, VIM, EEF1A1, BRCA1, PSMD1, PSMC2, PSMC6, PSMD2, PSMD13, PSMB2, PSMB7, UBE2V2, STUB1, UBQLN1, LCP1, SPR, SNRPF, STAT6, TACC3, PPIL3, IGBP1, NUBP2, RPS21, UFM1, PRDX5, UBXN7, RBM8A, PPIA, NANS, POU5F1, SOX2, CETN2, MLH1, PARK2, HDAC6, ADSL, PDE12, CBS, DRAP1, EIF4A3, GTF2I, NPLOC4, NUCB1, PDLIM5, PKM, PLIN3, UBA2, XPNPEP1, UBA6, SHFM1, PSMD14, PUF60, PNMA5, COMMD4, CORO1B, CORO1C, DNAAF5, G6PD, KIAA0368, MYO6, ABAT, AHSA1, HMGCS1, NMD3, PDIA3, PHGDH, PSMC1, PSMC4, PSMC5, UBQLN2, UBQLN4, SEC24B, SPG20, SUMO3, UBE2N, ZYX, NTRK1, BLM, HIST1H2BG, HIST1H3A, MED20, EWSR1, NANOG, CDKN3, UBL7, USP25, UBE4B, KCTD10, KCTD3, BTBD9, DDI2, ALDH2, SPTA1, 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 APBA1_RAD23B |
| 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 APBA1_RAD23B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | RAD23B | C0021364 | Male infertility | 1 | CTD_human |
| Tgene | RAD23B | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | RAD23B | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
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