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Fusion gene ID: 34781 |
FusionGeneSummary for SMARCA1_PGRMC1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMARCA1_PGRMC1 | Fusion gene ID: 34781 | Hgene | Tgene | Gene symbol | SMARCA1 | PGRMC1 | Gene ID | 6594 | 10857 |
| Gene name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 | progesterone receptor membrane component 1 | |
| Synonyms | ISWI|NURF140|SNF2L|SNF2L1|SNF2LB|SNF2LT|SWI|SWI2|hSNF2L | Dap1|HPR6.6|IZA|MPR | |
| Cytomap | Xq25-q26.1 | Xq24 | |
| Type of gene | protein-coding | protein-coding | |
| Description | probable global transcription activator SNF2L1ATP-dependent helicase SMARCA1SNF2-like 1global transcription activator homologous sequencenucleosome-remodeling factor subunit SNF2Lsucrose nonfermenting 2-like protein 1 | membrane-associated progesterone receptor component 1progesterone binding protein | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P28370 | O00264 | |
| Ensembl transtripts involved in fusion gene | ENST00000371121, ENST00000371122, ENST00000371123, ENST00000478420, | ENST00000217971, ENST00000535419, | |
| Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 2 X 3 X 2=12 |
| # samples | 4 | 3 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SMARCA1 [Title/Abstract] AND PGRMC1 [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 | SMARCA1 | GO:0006338 | chromatin remodeling | 14609955 |
| Hgene | SMARCA1 | GO:0043044 | ATP-dependent chromatin remodeling | 15640247 |
| 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 | LD | GBM | TCGA-76-4926-01B | SMARCA1 | chrX | 128599497 | - | PGRMC1 | chrX | 118374272 | + |
| * 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 |
| Frame-shift | ENST00000371121 | ENST00000217971 | SMARCA1 | chrX | 128599497 | - | PGRMC1 | chrX | 118374272 | + |
| 5CDS-intron | ENST00000371121 | ENST00000535419 | SMARCA1 | chrX | 128599497 | - | PGRMC1 | chrX | 118374272 | + |
| Frame-shift | ENST00000371122 | ENST00000217971 | SMARCA1 | chrX | 128599497 | - | PGRMC1 | chrX | 118374272 | + |
| 5CDS-intron | ENST00000371122 | ENST00000535419 | SMARCA1 | chrX | 128599497 | - | PGRMC1 | chrX | 118374272 | + |
| Frame-shift | ENST00000371123 | ENST00000217971 | SMARCA1 | chrX | 128599497 | - | PGRMC1 | chrX | 118374272 | + |
| 5CDS-intron | ENST00000371123 | ENST00000535419 | SMARCA1 | chrX | 128599497 | - | PGRMC1 | chrX | 118374272 | + |
| intron-3CDS | ENST00000478420 | ENST00000217971 | SMARCA1 | chrX | 128599497 | - | PGRMC1 | chrX | 118374272 | + |
| intron-intron | ENST00000478420 | ENST00000535419 | SMARCA1 | chrX | 128599497 | - | PGRMC1 | chrX | 118374272 | + |
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FusionProtFeatures for SMARCA1_PGRMC1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMARCA1 | PGRMC1 |
| Energy-transducing component of NURF (nucleosome-remodeling factor) and CERF (CECR2-containing-remodeling factor)complexes. Both complexes facilitate the perturbation of chromatinstructure in an ATP-dependent manner. Potentiates neuriteoutgrowth. May be involved in brain development by regulating En-1and En-2 expression. May be involved in the development of lutealcells. {ECO:0000269|PubMed:14609955, ECO:0000269|PubMed:15310751,ECO:0000269|PubMed:15640247, ECO:0000269|PubMed:16740656}. | Component of a progesterone-binding protein complex(PubMed:28396637). Binds progesterone (PubMed:25675345). Has manyreported cellular functions (heme homeostasis, interaction withCYPs). {ECO:0000269|PubMed:25675345, ECO:0000303|PubMed:28396637}. |
| 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 SMARCA1_PGRMC1 |
| 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 SMARCA1_PGRMC1 |
| 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 |
| SMARCA1 | PARP1, PGR, HIST1H3A, BPTF, RBBP7, RBBP4, USF1, ARID1B, SETD1A, GRK5, SMARCA5, SMARCC2, SMARCC1, SMARCA4, RUVBL1, DDX21, TFPT, C17orf49, EED, RPS2, DEF6, NTRK1, POLE3, IFI16, MAX, RBPJ, TEAD2, FOXC1, FOXE1, FOXG1, FOXJ2, FOXK2, FOXL1, FOXQ1, NANOG, TMEM128, IDO2, C1orf106, RFXANK, NFATC2IP, G3BP1 | PGRMC1 | EFHD1, DNAAF5, ABCD3, SFXN1, DDOST, RNF13, CENPU, PAM16, CUL3, COPS5, INSIG1, SPCS2, ILF3, GCN1L1, HNRNPH1, HNRNPU, FKBP8, SRSF3, RPS20, CYP3A4, CYP2C8, BCAP31, POR, CANX, MTNR1A, UBL4A, ADRB2, RPA3, RPA2, RPA1, PCSK9, CREB3L1, CUL7, CCDC8, ATL3, ITGB1BP1, MED23, TCTN3, OTUB1, EGFR, DUSP21, DUSP22, DUSP9, B3GNT3, FECH, CYP1A2, PTPN1, PTPRE, PTPRO, NCDN, HSD17B10, VDAC1, 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 SMARCA1_PGRMC1 |
| 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 |
| Tgene | PGRMC1 | O00264 | DB00514 | Dextromethorphan | Membrane-associated progesterone receptor component 1 | small molecule | approved |
| Tgene | PGRMC1 | O00264 | DB00540 | Nortriptyline | Membrane-associated progesterone receptor component 1 | small molecule | approved |
| Tgene | PGRMC1 | O00264 | DB01104 | Sertraline | Membrane-associated progesterone receptor component 1 | small molecule | approved |
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RelatedDiseases for SMARCA1_PGRMC1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PGRMC1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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