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Fusion gene ID: 34827 |
FusionGeneSummary for SMARCC1_SPINK8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMARCC1_SPINK8 | Fusion gene ID: 34827 | Hgene | Tgene | Gene symbol | SMARCC1 | SPINK8 | Gene ID | 6599 | 646424 |
| Gene name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 | serine peptidase inhibitor, Kazal type 8 (putative) | |
| Synonyms | BAF155|CRACC1|Rsc8|SRG3|SWI3 | - | |
| Cytomap | 3p21.31 | 3p21.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | SWI/SNF complex subunit SMARCC1BRG1-associated factor 155SWI/SNF complex 155 kDa subunitSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1chromatin remodeling complex BAF155 subunitmammalian chromatin remode | serine protease inhibitor Kazal-type 8 | |
| Modification date | 20180523 | 20180403 | |
| UniProtAcc | Q92922 | P0C7L1 | |
| Ensembl transtripts involved in fusion gene | ENST00000254480, ENST00000425518, | ENST00000434006, | |
| Fusion gene scores | * DoF score | 13 X 10 X 9=1170 | 4 X 1 X 8=32 |
| # samples | 17 | 11 | |
| ** MAII score | log2(17/1170*10)=-2.78290187833307 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/32*10)=1.78135971352466 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SMARCC1 [Title/Abstract] AND SPINK8 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * 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 | SMARCC1 | GO:0006337 | nucleosome disassembly | 8895581 |
| Hgene | SMARCC1 | GO:0006338 | chromatin remodeling | 10078207|11018012|11726552 |
| Hgene | SMARCC1 | GO:0045893 | positive regulation of transcription, DNA-templated | 11018012 |
| 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 | OV | TCGA-24-2293-01A | SMARCC1 | chr3 | 47721927 | - | SPINK8 | chr3 | 48351436 | - |
| TCGA | RV | PRAD | TCGA-HC-8265-01B | SMARCC1 | chr3 | 47777524 | - | SPINK8 | chr3 | 48351436 | - |
| TCGA | LD | PRAD | TCGA-HC-8265-01A | SMARCC1 | chr3 | 47777524 | - | SPINK8 | chr3 | 48351436 | - |
| * 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 | ENST00000254480 | ENST00000434006 | SMARCC1 | chr3 | 47721927 | - | SPINK8 | chr3 | 48351436 | - |
| 5UTR-3CDS | ENST00000425518 | ENST00000434006 | SMARCC1 | chr3 | 47721927 | - | SPINK8 | chr3 | 48351436 | - |
| Frame-shift | ENST00000254480 | ENST00000434006 | SMARCC1 | chr3 | 47777524 | - | SPINK8 | chr3 | 48351436 | - |
| 5UTR-3CDS | ENST00000425518 | ENST00000434006 | SMARCC1 | chr3 | 47777524 | - | SPINK8 | chr3 | 48351436 | - |
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FusionProtFeatures for SMARCC1_SPINK8 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMARCC1 | SPINK8 |
| Involved in transcriptional activation and repression ofselect genes by chromatin remodeling (alteration of DNA-nucleosometopology). Component of SWI/SNF chromatin remodeling complexesthat carry out key enzymatic activities, changing chromatinstructure by altering DNA-histone contacts within a nucleosome inan ATP-dependent manner. May stimulate the ATPase activity of thecatalytic subunit of the complex (PubMed:10078207). Belongs to theneural progenitors-specific chromatin remodeling complex (npBAFcomplex) and the neuron-specific chromatin remodeling complex(nBAF complex). During neural development a switch from astem/progenitor to a postmitotic chromatin remodeling mechanismoccurs as neurons exit the cell cycle and become committed totheir adult state. The transition from proliferating neuralstem/progenitor cells to postmitotic neurons requires a switch insubunit composition of the npBAF and nBAF complexes. As neuralprogenitors exit mitosis and differentiate into neurons, npBAFcomplexes which contain ACTL6A/BAF53A and PHF10/BAF45A, areexchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45Bor DPF3/BAF45C subunits in neuron-specific complexes (nBAF). ThenpBAF complex is essential for the self-renewal/proliferativecapacity of the multipotent neural stem cells. The nBAF complexalong with CREST plays a role regulating the activity of genesessential for dendrite growth (By similarity).{ECO:0000250|UniProtKB:P97496, ECO:0000269|PubMed:10078207,ECO:0000269|PubMed:11018012, ECO:0000303|PubMed:22952240,ECO:0000303|PubMed:26601204}. | Probable serine protease inhibitor. {ECO:0000250}. |
| 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 |
| Hgene | SMARCC1 | chr3:47721927 | chr3:48351436 | ENST00000254480 | - | 15 | 28 | 329_336 | 485 | 1106 | Compositional bias | Note=Poly-Pro |
| - 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 |
| Hgene | >SMARCC1 | chr3:47721927 | chr3:48351436 | ENST00000254480 | - | 15 | 28 | 914_946 | 485 | 1106 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >SMARCC1 | chr3:47721927 | chr3:48351436 | ENST00000254480 | - | 15 | 28 | 769_863 | 485 | 1106 | Compositional bias | Note=Glu-rich |
| Hgene | >SMARCC1 | chr3:47721927 | chr3:48351436 | ENST00000254480 | - | 15 | 28 | 867_878 | 485 | 1106 | Compositional bias | Note=Poly-Ala |
| Hgene | >SMARCC1 | chr3:47721927 | chr3:48351436 | ENST00000254480 | - | 15 | 28 | 977_1105 | 485 | 1106 | Compositional bias | Note=Pro-rich |
| Hgene | >SMARCC1 | chr3:47721927 | chr3:48351436 | ENST00000254480 | - | 15 | 28 | 449_546 | 485 | 1106 | Domain | SWIRM |
| Hgene | >SMARCC1 | chr3:47721927 | chr3:48351436 | ENST00000254480 | - | 15 | 28 | 618_669 | 485 | 1106 | Domain | SANT |
| Tgene | SPINK8 | chr3:47721927 | chr3:48351436 | ENST00000434006 | - | 2 | 5 | 36_96 | 79 | 98 | Domain | Kazal-like |
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FusionGeneSequence for SMARCC1_SPINK8 |
| 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_SMARCC1_ENST00000254480_chr3_47721927_-_SPINK8_ENST00000434006_chr3_48351436_-_504aa MAAAAGGGGPGTAVGATGSGIAAAAAGLAVYRRKDGGPATKFWESPETVSQLDSVRVWLGKHYKKYVHADAPTNKTLAGLVVQLLQFQED AFGKHVTNPAFTKLPAKCFMDFKAGGALCHILGAAYKYKNEQGWRRFDLQNPSRMDRNVEMFMNIEKTLVQNNCLTRPNIYLIPDIDLKL ANKLKDIIKRHQGTFTDEKSKASHHIYPYSSSQDDEEWLRPVMRKEKQVLVHWGFYPDSYDTWVHSNDVDAEIEDPPIPEKPWKVHVKWI LDTDIFNEWMNEEDYEVDENRKPVSFRQRISTKNEEPVRSPERRDRKASANARKRKHSPSPPPPTPTESRKKSGKKGQASLYGKRRSQKE EDEQEDLTKDMEDPTPVPNIEEVVLPKNVNLKKDSENTPVKGGTVADLDEQDEETVTAGGKEDEDPAKGDQSRSVDLGEDNVTEQTNHII |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SMARCC1_ENST00000254480_chr3_47721927_-_SPINK8_ENST00000434006_chr3_48351436_-_1512nt ATGGCCGCAGCGGCGGGCGGCGGCGGGCCGGGGACAGCGGTAGGCGCCACGGGCTCGGGGATTGCGGCGGCAGCCGCAGGCCTAGCTGTT TATCGACGGAAGGATGGGGGCCCGGCCACCAAGTTTTGGGAGAGCCCGGAGACGGTGTCCCAGCTGGATTCGGTGCGGGTCTGGCTGGGC AAGCACTACAAGAAGTATGTTCATGCGGATGCTCCTACCAATAAAACACTGGCTGGGCTGGTGGTGCAGCTTCTTCAGTTCCAGGAAGAT GCCTTTGGGAAGCATGTCACCAACCCGGCCTTCACCAAACTCCCTGCAAAGTGTTTCATGGATTTCAAAGCTGGAGGCGCCTTATGTCAC ATTCTTGGGGCTGCTTACAAGTATAAAAATGAACAGGGATGGCGGAGGTTTGACCTACAGAACCCATCTCGAATGGATCGTAATGTGGAA ATGTTTATGAACATTGAAAAAACATTGGTGCAGAACAATTGTTTGACCAGACCCAACATCTACCTCATTCCAGACATTGATCTGAAGTTG GCTAACAAATTGAAAGATATCATCAAACGACATCAGGGAACATTTACGGATGAGAAGTCAAAAGCTTCCCACCACATTTACCCATATTCT TCCTCACAAGACGATGAAGAATGGTTGAGACCGGTGATGAGAAAAGAGAAGCAAGTGTTAGTGCATTGGGGCTTTTACCCAGACAGCTAT GATACTTGGGTCCATAGTAATGATGTTGATGCTGAAATTGAAGATCCACCAATTCCAGAAAAACCATGGAAGGTTCATGTGAAATGGATT TTGGACACTGATATTTTCAATGAATGGATGAATGAGGAGGATTATGAGGTGGATGAAAATAGGAAGCCTGTGAGTTTTCGTCAGCGGATT TCAACCAAGAATGAAGAGCCAGTCAGAAGTCCAGAAAGAAGAGATAGAAAAGCATCAGCTAATGCTCGAAAGAGGAAACATTCGCCTTCG CCTCCCCCTCCGACACCAACAGAATCACGGAAGAAGAGTGGGAAGAAAGGCCAAGCTAGCCTTTATGGGAAGCGCAGAAGTCAGAAAGAG GAAGATGAGCAAGAAGATCTAACCAAGGATATGGAAGACCCAACACCTGTACCCAATATAGAAGAAGTAGTACTTCCCAAAAATGTGAAC CTAAAGAAAGATAGTGAAAATACACCTGTTAAAGGAGGAACTGTAGCGGATCTAGATGAGCAGGATGAAGAAACAGTCACAGCAGGAGGA AAGGAAGATGAAGATCCTGCCAAAGGTGATCAGAGTCGATCAGTTGACCTTGGGGAAGATAATGTGACAGAGCAGACCAATCACATTATT ATTCCTAGTTATGCATCATGGTTTGATTATAACTGTATTCATGTGATTGAACGGCGTGCTCTTCCTGAGTTCTTCAATGGAAAAAACAAA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SMARCC1_ENST00000254480_chr3_47721927_-_SPINK8_ENST00000434006_chr3_48351436_-_1778nt GGCTGGGCGGGGCCGGGAAGCGGCAGTGGCGGCTACGCGCGCGGGGGTGCGCGCGGGAACGACCGGGAAACACCGCGAGGGCCGGGGTGG GCCAGGCTGTGGGGACGACGGGCTGCGACGATGGCCGCAGCGGCGGGCGGCGGCGGGCCGGGGACAGCGGTAGGCGCCACGGGCTCGGGG ATTGCGGCGGCAGCCGCAGGCCTAGCTGTTTATCGACGGAAGGATGGGGGCCCGGCCACCAAGTTTTGGGAGAGCCCGGAGACGGTGTCC CAGCTGGATTCGGTGCGGGTCTGGCTGGGCAAGCACTACAAGAAGTATGTTCATGCGGATGCTCCTACCAATAAAACACTGGCTGGGCTG GTGGTGCAGCTTCTTCAGTTCCAGGAAGATGCCTTTGGGAAGCATGTCACCAACCCGGCCTTCACCAAACTCCCTGCAAAGTGTTTCATG GATTTCAAAGCTGGAGGCGCCTTATGTCACATTCTTGGGGCTGCTTACAAGTATAAAAATGAACAGGGATGGCGGAGGTTTGACCTACAG AACCCATCTCGAATGGATCGTAATGTGGAAATGTTTATGAACATTGAAAAAACATTGGTGCAGAACAATTGTTTGACCAGACCCAACATC TACCTCATTCCAGACATTGATCTGAAGTTGGCTAACAAATTGAAAGATATCATCAAACGACATCAGGGAACATTTACGGATGAGAAGTCA AAAGCTTCCCACCACATTTACCCATATTCTTCCTCACAAGACGATGAAGAATGGTTGAGACCGGTGATGAGAAAAGAGAAGCAAGTGTTA GTGCATTGGGGCTTTTACCCAGACAGCTATGATACTTGGGTCCATAGTAATGATGTTGATGCTGAAATTGAAGATCCACCAATTCCAGAA AAACCATGGAAGGTTCATGTGAAATGGATTTTGGACACTGATATTTTCAATGAATGGATGAATGAGGAGGATTATGAGGTGGATGAAAAT AGGAAGCCTGTGAGTTTTCGTCAGCGGATTTCAACCAAGAATGAAGAGCCAGTCAGAAGTCCAGAAAGAAGAGATAGAAAAGCATCAGCT AATGCTCGAAAGAGGAAACATTCGCCTTCGCCTCCCCCTCCGACACCAACAGAATCACGGAAGAAGAGTGGGAAGAAAGGCCAAGCTAGC CTTTATGGGAAGCGCAGAAGTCAGAAAGAGGAAGATGAGCAAGAAGATCTAACCAAGGATATGGAAGACCCAACACCTGTACCCAATATA GAAGAAGTAGTACTTCCCAAAAATGTGAACCTAAAGAAAGATAGTGAAAATACACCTGTTAAAGGAGGAACTGTAGCGGATCTAGATGAG CAGGATGAAGAAACAGTCACAGCAGGAGGAAAGGAAGATGAAGATCCTGCCAAAGGTGATCAGAGTCGATCAGTTGACCTTGGGGAAGAT AATGTGACAGAGCAGACCAATCACATTATTATTCCTAGTTATGCATCATGGTTTGATTATAACTGTATTCATGTGATTGAACGGCGTGCT CTTCCTGAGTTCTTCAATGGAAAAAACAAATCCAAGACTCCAGAAATATTTGAAGGGCTTAACATAACTAAACTGTATGATGGACAATGT GAAAACTCTTGAACGTACGACAAAGAATTATAAAACCTACTGAATCTCCAGATTGCCAAGTGAAACACAATGGTTGCCTCTTCAAATATA |
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FusionGenePPI for SMARCC1_SPINK8 |
| 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 |
| SMARCC1 | RELB, NR3C1, SMARCD1, SMARCB1, SMARCA4, SMARCA2, SIN3A, KLF1, GATA1, SP1, TP53, BRCA1, STAT2, CCNE1, HSP90B1, NCOR1, SMARCE1, CEBPB, CDK8, ING1, AR, ING2, TAF10, NR4A1, ARID1A, SMARCC2, PBRM1, ADD1, MCPH1, BCL7C, BRD7, ARID1B, AKT1, PRMT5, MYC, SMARCC1, HNRNPC, CHD4, SRRM2, TAF6, NR0B2, NONO, SMAD2, SMAD3, CARM1, EMD, DPF2, TRIM28, RUNX1, CHD7, ARID2, STK11, WHSC1L1, SMARCAD1, SOX2, ELAVL1, SIRT7, DPF3, PHF10, DPF1, ACTL6A, CUL3, CAND1, BAZ1B, SMARCD2, TOP2B, HDAC1, SMARCA5, RBBP5, KDM1A, SMARCA1, NOTCH1, EPAS1, VCP, HDAC6, ITCH, NEDD4, WWOX, AURKB, OTX1, PLSCR1, ADAMTSL4, MOV10, NXF1, MSL1, EED, RNF2, BMI1, SS18, NTRK1, MESDC2, MRE11A, SAMD9, BCL7A, CPSF6, DCTN2, FUBP1, FUBP3, KHSRP, MDC1, METTL13, NCAPH2, SF3A1, TMOD3, YLPM1, SMARCD3, SS18L1, TBL1XR1, NCOA1, KMT2A, EWSR1, HIST1H3E, RAB5C, NR2C2, FOS, JUN, NFATC1, NFATC2, C1orf131, SFPQ, CHEK1, TRIM25 | SPINK8 |
| - 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 SMARCC1_SPINK8 |
| 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 SMARCC1_SPINK8 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SMARCC1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Hgene | SMARCC1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | SMARCC1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
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