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Fusion gene ID: 34806 |
FusionGeneSummary for SMARCA5_APPBP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMARCA5_APPBP2 | Fusion gene ID: 34806 | Hgene | Tgene | Gene symbol | SMARCA5 | APPBP2 | Gene ID | 8467 | 10513 |
| Gene name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 | amyloid beta precursor protein binding protein 2 | |
| Synonyms | ISWI|SNF2H|WCRF135|hISWI|hSNF2H | APP-BP2|HS.84084|PAT1 | |
| Cytomap | 4q31.21 | 17q23.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5sucrose nonfermenting protein 2 homologsucrose nonfermenting-like 5 | amyloid protein-binding protein 2amyloid beta precursor protein (cytoplasmic tail) binding protein 2protein interacting with APP tail 1 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | O60264 | Q92624 | |
| Ensembl transtripts involved in fusion gene | ENST00000283131, | ENST00000083182, ENST00000592995, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 6 X 4 X 4=96 |
| # samples | 2 | 6 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(6/96*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SMARCA5 [Title/Abstract] AND APPBP2 [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 | SMARCA5 | GO:0006334 | nucleosome assembly | 12972596 |
| Hgene | SMARCA5 | GO:0006338 | chromatin remodeling | 9836642 |
| Hgene | SMARCA5 | GO:0006352 | DNA-templated transcription, initiation | 9836642 |
| Hgene | SMARCA5 | GO:0016584 | nucleosome positioning | 9836642 |
| Tgene | APPBP2 | GO:0046907 | intracellular transport | 9843960 |
| 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 | AI538939 | SMARCA5 | chr4 | 144471220 | - | APPBP2 | chr17 | 58539388 | + |
| * 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 |
| In-frame | ENST00000283131 | ENST00000083182 | SMARCA5 | chr4 | 144471220 | - | APPBP2 | chr17 | 58539388 | + |
| 5CDS-5UTR | ENST00000283131 | ENST00000592995 | SMARCA5 | chr4 | 144471220 | - | APPBP2 | chr17 | 58539388 | + |
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FusionProtFeatures for SMARCA5_APPBP2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMARCA5 | APPBP2 |
| Helicase that possesses intrinsic ATP-dependentnucleosome-remodeling activity. Complexes containing SMARCA5 arecapable of forming ordered nucleosome arrays on chromatin; thismay require intact histone H4 tails. Also required for replicationof pericentric heterochromatin in S-phase specifically inconjunction with BAZ1A. Probably plays a role in repression ofpolI dependent transcription of the rDNA locus, through therecruitment of the SIN3/HDAC1 corepressor complex to the rDNApromoter. Essential component of the WICH complex, a chromatinremodeling complex that mobilizes nucleosomes and reconfiguresirregular chromatin to a regular nucleosomal array structure. TheWICH complex regulates the transcription of various genes, has arole in RNA polymerase I and RNA polymerase III transcription,mediates the histone H2AX phosphorylation at 'Tyr-142', and isinvolved in the maintenance of chromatin structures during DNAreplication processes. Essential component of the NoRC (nucleolarremodeling complex) complex, a complex that mediates silencing ofa fraction of rDNA by recruiting histone-modifying enzymes and DNAmethyltransferases, leading to heterochromatin formation andtranscriptional silencing. {ECO:0000269|PubMed:10880450,ECO:0000269|PubMed:11980720, ECO:0000269|PubMed:12198550,ECO:0000269|PubMed:12434153, ECO:0000269|PubMed:12972596,ECO:0000269|PubMed:15543136, ECO:0000269|PubMed:16603771}. | May play a role in intracellular protein transport. Maybe involved in the translocation of APP along microtubules towardthe cell surface. {ECO:0000269|PubMed:9843960}. |
| 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 SMARCA5_APPBP2 |
| 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. |
| >In-frame_SMARCA5_ENST00000283131_chr4_144471220_-_APPBP2_ENST00000083182_chr17_58539388_+_0aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SMARCA5_ENST00000283131_chr4_144471220_-_APPBP2_ENST00000083182_chr17_58539388_+_0nt |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SMARCA5_ENST00000283131_chr4_144471220_-_APPBP2_ENST00000083182_chr17_58539388_+_0nt |
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FusionGenePPI for SMARCA5_APPBP2 |
| 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 SMARCA5_APPBP2 |
| 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 SMARCA5_APPBP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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