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Fusion gene ID: 30672 |
FusionGeneSummary for RBL1_CSTA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RBL1_CSTA | Fusion gene ID: 30672 | Hgene | Tgene | Gene symbol | RBL1 | CSTA | Gene ID | 5933 | 1475 |
| Gene name | RB transcriptional corepressor like 1 | cystatin A | |
| Synonyms | CP107|PRB1|p107 | AREI|PSS4|STF1|STFA | |
| Cytomap | 20q11.23 | 3q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | retinoblastoma-like protein 1107 kDa retinoblastoma-associated proteinretinoblastoma-like 1 | cystatin-Acystatin A (stefin A)cystatin AS | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P28749 | P01040 | |
| Ensembl transtripts involved in fusion gene | ENST00000373664, ENST00000344359, ENST00000598590, | ENST00000264474, ENST00000479204, | |
| Fusion gene scores | * DoF score | 7 X 3 X 5=105 | 7 X 6 X 4=168 |
| # samples | 7 | 7 | |
| ** MAII score | log2(7/105*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RBL1 [Title/Abstract] AND CSTA [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 | RBL1 | GO:0043550 | regulation of lipid kinase activity | 16286473 |
| Tgene | CSTA | GO:0010466 | negative regulation of peptidase activity | 6203523 |
| Tgene | CSTA | GO:0018149 | peptide cross-linking | 10908733 |
| Tgene | CSTA | GO:0030216 | keratinocyte differentiation | 10908733 |
| Tgene | CSTA | GO:0045861 | negative regulation of proteolysis | 3488317 |
| 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-61-2111-01A | RBL1 | chr20 | 35717392 | - | CSTA | chr3 | 122056394 | + |
| * 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 | ENST00000373664 | ENST00000264474 | RBL1 | chr20 | 35717392 | - | CSTA | chr3 | 122056394 | + |
| In-frame | ENST00000373664 | ENST00000479204 | RBL1 | chr20 | 35717392 | - | CSTA | chr3 | 122056394 | + |
| Frame-shift | ENST00000344359 | ENST00000264474 | RBL1 | chr20 | 35717392 | - | CSTA | chr3 | 122056394 | + |
| In-frame | ENST00000344359 | ENST00000479204 | RBL1 | chr20 | 35717392 | - | CSTA | chr3 | 122056394 | + |
| intron-3CDS | ENST00000598590 | ENST00000264474 | RBL1 | chr20 | 35717392 | - | CSTA | chr3 | 122056394 | + |
| intron-3CDS | ENST00000598590 | ENST00000479204 | RBL1 | chr20 | 35717392 | - | CSTA | chr3 | 122056394 | + |
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FusionProtFeatures for RBL1_CSTA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RBL1 | CSTA |
| Key regulator of entry into cell division. Directlyinvolved in heterochromatin formation by maintaining overallchromatin structure and, in particular, that of constitutiveheterochromatin by stabilizing histone methylation. Recruits andtargets histone methyltransferases KMT5B and KMT5C, leading toepigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Probably acts as a transcription repressor byrecruiting chromatin-modifying enzymes to promoters. Potentinhibitor of E2F-mediated trans-activation. Forms a complex withadenovirus E1A and with SV40 large T antigen. May bind andmodulate functionally certain cellular proteins with which T andE1A compete for pocket binding. May act as a tumor suppressor. | This is an intracellular thiol proteinase inhibitor. Hasan important role in desmosome-mediated cell-cell adhesion in thelower levels of the epidermis. {ECO:0000269|PubMed:21944047}. |
| 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 RBL1_CSTA |
| 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_RBL1_ENST00000373664_chr20_35717392_-_CSTA_ENST00000479204_chr3_122056394_+_138aa MFEDKPHAEGAAVVAAAGEALQALCQELNLDEGSAAEALDDFTAIRGNYSLEGEVTHWLACSLYVACRKSIIPTVGKGIMEGNCVSLTRI >In-frame_RBL1_ENST00000344359_chr20_35717392_-_CSTA_ENST00000479204_chr3_122056394_+_138aa MFEDKPHAEGAAVVAAAGEALQALCQELNLDEGSAAEALDDFTAIRGNYSLEGEVTHWLACSLYVACRKSIIPTVGKGIMEGNCVSLTRI |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_RBL1_ENST00000373664_chr20_35717392_-_CSTA_ENST00000479204_chr3_122056394_+_416nt ATGTTCGAGGACAAGCCCCACGCTGAGGGGGCGGCGGTGGTCGCCGCAGCCGGGGAGGCGCTACAGGCCCTGTGCCAGGAGCTGAACCTG GACGAGGGGAGCGCGGCCGAAGCCCTGGACGACTTTACTGCCATCCGAGGCAACTACAGCCTAGAGGGAGAAGTTACACACTGGTTGGCA TGTTCATTATATGTTGCATGCCGCAAAAGCATTATTCCCACGGTTGGAAAGGGTATCATGGAAGGCAACTGTGTTTCACTTACCAGAATA CTACGTTCAGCTAAATTAAGGTTAAACCACAGCTTGAAGAAAAAACAAATGAGACTTACGGAAAATTGGAAGCTGTGCAGTATAAAACTC >In-frame_RBL1_ENST00000344359_chr20_35717392_-_CSTA_ENST00000479204_chr3_122056394_+_416nt ATGTTCGAGGACAAGCCCCACGCTGAGGGGGCGGCGGTGGTCGCCGCAGCCGGGGAGGCGCTACAGGCCCTGTGCCAGGAGCTGAACCTG GACGAGGGGAGCGCGGCCGAAGCCCTGGACGACTTTACTGCCATCCGAGGCAACTACAGCCTAGAGGGAGAAGTTACACACTGGTTGGCA TGTTCATTATATGTTGCATGCCGCAAAAGCATTATTCCCACGGTTGGAAAGGGTATCATGGAAGGCAACTGTGTTTCACTTACCAGAATA CTACGTTCAGCTAAATTAAGGTTAAACCACAGCTTGAAGAAAAAACAAATGAGACTTACGGAAAATTGGAAGCTGTGCAGTATAAAACTC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_RBL1_ENST00000373664_chr20_35717392_-_CSTA_ENST00000479204_chr3_122056394_+_1081nt GGGTAGCGCGCCTGGGAGGGAGAAAGAAGTCGGGGGCCGTGGCGCGCAGCCCGCGGGGCCTGAAGGGATGTTCGAGGACAAGCCCCACGC TGAGGGGGCGGCGGTGGTCGCCGCAGCCGGGGAGGCGCTACAGGCCCTGTGCCAGGAGCTGAACCTGGACGAGGGGAGCGCGGCCGAAGC CCTGGACGACTTTACTGCCATCCGAGGCAACTACAGCCTAGAGGGAGAAGTTACACACTGGTTGGCATGTTCATTATATGTTGCATGCCG CAAAAGCATTATTCCCACGGTTGGAAAGGGTATCATGGAAGGCAACTGTGTTTCACTTACCAGAATACTACGTTCAGCTAAATTAAGGTT AAACCACAGCTTGAAGAAAAAACAAATGAGACTTACGGAAAATTGGAAGCTGTGCAGTATAAAACTCAAGTTGTTGCTGGAACAAATTAC TACATTAAGGTTAGAGTTCAGCACCTACTTTAGCGCCAAAAGATGTATTTCTCATTTTATGTAAAATATTCCCTGATTTCCCTACCACAT AATTCCTTCCTTACGGTTGTCCTAAATTAAGATGCCCAGCATGATTCCTTCCAAGTGGTGGACTCTCAAATTTGGTAGATGATGTGACAC CATTTTTTTTCTTGTGAATTCAGAAAGTTTTATTACATTGATTCTTGATTTCTGGAAATTGTATAGAAAAAGATTTCATAACAGTTCAGG GCATGCTGGATTTGTGGCTGTGCTGCTGCTTAGGTAAGGAGGGAGGATCACGTCTCATCTGCCTGAAGGTGTGGGGCTGGACCACATGGT ATCTTGAAGCTGATTCTACCTCAAAGCTGTATGATTCTCTATGTCTAAATTAAATAAATTAAAGTAACGACTCAAATCATTAGCTGGGAA AATAATTTAAACCTTTTTTGCCCTTCAATTAATATAATGTAAATACTATTTTGTAACTCAAATTAGATTTAACTTGTGGCACTCTAGGCA TAGTTTAAAAGAGTGGAGTATTTAAAATAGTTTAAAAGTTAATTTTATAGCTCTGTCAAAAAATTACACAATGCATTGATCGAGTTCTAA >In-frame_RBL1_ENST00000344359_chr20_35717392_-_CSTA_ENST00000479204_chr3_122056394_+_1075nt CGCGCCTGGGAGGGAGAAAGAAGTCGGGGGCCGTGGCGCGCAGCCCGCGGGGCCTGAAGGGATGTTCGAGGACAAGCCCCACGCTGAGGG GGCGGCGGTGGTCGCCGCAGCCGGGGAGGCGCTACAGGCCCTGTGCCAGGAGCTGAACCTGGACGAGGGGAGCGCGGCCGAAGCCCTGGA CGACTTTACTGCCATCCGAGGCAACTACAGCCTAGAGGGAGAAGTTACACACTGGTTGGCATGTTCATTATATGTTGCATGCCGCAAAAG CATTATTCCCACGGTTGGAAAGGGTATCATGGAAGGCAACTGTGTTTCACTTACCAGAATACTACGTTCAGCTAAATTAAGGTTAAACCA CAGCTTGAAGAAAAAACAAATGAGACTTACGGAAAATTGGAAGCTGTGCAGTATAAAACTCAAGTTGTTGCTGGAACAAATTACTACATT AAGGTTAGAGTTCAGCACCTACTTTAGCGCCAAAAGATGTATTTCTCATTTTATGTAAAATATTCCCTGATTTCCCTACCACATAATTCC TTCCTTACGGTTGTCCTAAATTAAGATGCCCAGCATGATTCCTTCCAAGTGGTGGACTCTCAAATTTGGTAGATGATGTGACACCATTTT TTTTCTTGTGAATTCAGAAAGTTTTATTACATTGATTCTTGATTTCTGGAAATTGTATAGAAAAAGATTTCATAACAGTTCAGGGCATGC TGGATTTGTGGCTGTGCTGCTGCTTAGGTAAGGAGGGAGGATCACGTCTCATCTGCCTGAAGGTGTGGGGCTGGACCACATGGTATCTTG AAGCTGATTCTACCTCAAAGCTGTATGATTCTCTATGTCTAAATTAAATAAATTAAAGTAACGACTCAAATCATTAGCTGGGAAAATAAT TTAAACCTTTTTTGCCCTTCAATTAATATAATGTAAATACTATTTTGTAACTCAAATTAGATTTAACTTGTGGCACTCTAGGCATAGTTT |
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FusionGenePPI for RBL1_CSTA |
| 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 |
| RBL1 | RBBP8, BEGAIN, BRCA1, MYBL2, CDKN1C, SUV39H1, HDAC1, HDAC2, HDAC3, ARID4A, CCNE1, CDK2, E2F5, KDM5A, AATF, SMAD3, SMAD4, E2F4, SNW1, MCM7, CCNA2, E2F1, PPP2R3A, CREG1, CCNA1, TFDP1, TFDP2, RBBP9, TAF1, BRF1, PHB, USP4, MYC, EMD, RBL2, IRF3, MAPK6, E2F3, LIN37, LIN9, LIN54, SMARCA4, TOP1, E2F2, RINT1, ID2, DGKZ, CDK4, CDK6, SP1, GOLGA2, SNRPD3, AOX1, EPHA2, FN1, NR4A1, LAMB2, NUCB1, PLSCR1, MAGEA11, AR, DYRK1A, DYRK1B, TXNDC11, CTBP1, C3orf62, NTRK1, FOXK1, FOXO3, TSC22D2, KIAA0430, HELZ | CSTA | CTSB, CTSL, CTSH, PI3, KRT1, LOR, DSP, IVL, CSTA, USP53, UCHL5, RAD21, TCF3, CUL4B, CUL2, CDK2, METTL23, CEP57, ZDHHC17, TCTN3, RASSF9, RASSF10, HERC2, FOXR1, MCM2, EGFR, ZIC1, CYLD |
| - 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 RBL1_CSTA |
| 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 RBL1_CSTA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CSTA | C0017636 | Glioblastoma | 1 | CTD_human |
| Tgene | CSTA | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | CSTA | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |
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