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Fusion gene ID: 35642 |
FusionGeneSummary for SPEN_C1orf64 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SPEN_C1orf64 | Fusion gene ID: 35642 | Hgene | Tgene | Gene symbol | SPEN | C1orf64 | Gene ID | 64783 |
| Gene name | RNA binding motif protein 15 | ||
| Synonyms | OTT|OTT1|SPEN | ||
| Cytomap | 1p13.3 | ||
| Type of gene | protein-coding | ||
| Description | putative RNA-binding protein 15one twenty two proteinone twenty-twoone-twenty two protein 1 | ||
| Modification date | 20180523 | ||
| UniProtAcc | Q96T58 | ||
| Ensembl transtripts involved in fusion gene | ENST00000375759, ENST00000471538, | ENST00000329454, | |
| Fusion gene scores | * DoF score | 15 X 10 X 12=1800 | 1 X 1 X 1=1 |
| # samples | 22 | 1 | |
| ** MAII score | log2(22/1800*10)=-3.03242147769238 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: SPEN [Title/Abstract] AND C1orf64 [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 | SPEN | GO:0045892 | negative regulation of transcription, DNA-templated | 16129689 |
| 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 | HNSC | TCGA-CN-6024-01A | SPEN | chr1 | 16174645 | + | C1orf64 | chr1 | 16332414 | + |
| * 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 | ENST00000375759 | ENST00000329454 | SPEN | chr1 | 16174645 | + | C1orf64 | chr1 | 16332414 | + |
| intron-3CDS | ENST00000471538 | ENST00000329454 | SPEN | chr1 | 16174645 | + | C1orf64 | chr1 | 16332414 | + |
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FusionProtFeatures for SPEN_C1orf64 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SPEN | C1orf64 |
| May serve as a nuclear matrix platform that organizesand integrates transcriptional responses. In osteoblasts, supportstranscription activation: synergizes with RUNX2 to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element(OCFRE) (By similarity). Has also been shown to be an essentialcorepressor protein, which probably regulates different keypathways such as the Notch pathway. Negative regulator of theNotch pathway via its interaction with RBPSUH, which prevents theassociation between NOTCH1 and RBPSUH, and therefore suppressesthe transactivation activity of Notch signaling. Blocks thedifferentiation of precursor B-cells into marginal zone B-cells.Probably represses transcription via the recruitment of largecomplexes containing histone deacetylase proteins. May bind bothto DNA and RNA. {ECO:0000250, ECO:0000269|PubMed:11331609,ECO:0000269|PubMed:12374742}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
| 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 |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 1170_1191 | 27 | 3665 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 1408_1428 | 27 | 3665 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 1496_1529 | 27 | 3665 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 1592_1612 | 27 | 3665 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 1928_1944 | 27 | 3665 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 688_715 | 27 | 3665 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 977_1004 | 27 | 3665 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 125_277 | 27 | 3665 | Compositional bias | Note=Arg-rich |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 240_325 | 27 | 3665 | Compositional bias | Note=Ser-rich |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 2428_2520 | 27 | 3665 | Compositional bias | Note=Pro-rich |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 3220_3482 | 27 | 3665 | Compositional bias | Note=Pro-rich |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 616_810 | 27 | 3665 | Compositional bias | Note=Arg-rich |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 624_697 | 27 | 3665 | Compositional bias | Note=Tyr-rich |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 1_573 | 27 | 3665 | DNA binding | Ontology_term=ECO:0000250 |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 2201_2707 | 27 | 3665 | Domain | Note=RID |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 335_415 | 27 | 3665 | Domain | RRM 2 |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 3498_3664 | 27 | 3665 | Domain | SPOC |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 438_513 | 27 | 3665 | Domain | RRM 3 |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 517_589 | 27 | 3665 | Domain | RRM 4 |
| Hgene | >SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 6_81 | 27 | 3665 | Domain | RRM 1 |
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FusionGeneSequence for SPEN_C1orf64 |
| 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_SPEN_ENST00000375759_chr1_16174645_+_C1orf64_ENST00000329454_chr1_16332414_+_170aa MVRETRHLWVGNLPENVREEKIIEHFKRWEAGWPSEDRPHGSPDFCYXLHPREAALPGSNRITTPSPQSQSRACHPTNEDLHRVLWGKLA |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SPEN_ENST00000375759_chr1_16174645_+_C1orf64_ENST00000329454_chr1_16332414_+_511nt ATGGTCCGGGAAACCAGGCATCTCTGGGTGGGCAACTTACCCGAGAACGTGCGGGAAGAGAAGATCATCGAGCATTTCAAACGGTGGGAA GCTGGCTGGCCATCAGAAGACCGTCCCCACGGCTCACCTGACTTTTGTTATTGACTGCACCCACGGGAAGCAGCTCTCCCTGGCAGCAAC CGCATCACCACCCCAAGCCCCCAGTCCCAATCGAGGGCTTGTCACCCCACCAATGAAGACCTACATCGTGTTCTGTGGGGAAAACTGGCC CCATCTGACTCGGGTGACCCCCATGGGTGGGGGATGCCTTGCCCAGGCCAGGGCCACCCTGCCGCTCTGCAGAGGGTCTGTGGCCTCAGC TTCCTTCCCAGTCAGCCCGCTCTGCCCCCAGGAGGTTCCCGAGGCTAAGGGGAAACCCGTGAAGGCTGCGCCTGTGAGGTCTTCAACTTG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SPEN_ENST00000375759_chr1_16174645_+_C1orf64_ENST00000329454_chr1_16332414_+_3176nt TGAGCTGCGAGGCCCGAGAGTCAGAACCTGGGGGAGAGGGATGGTCTCTGCACGGGGGGGAGCCGGAGGAGCCGCCGCCGCTGCCGACGC CACCGCCGCAGCCGCCGCCGCCGCCGCCCCGGCACCCGCCTCCCGGCGCTGACGGTCTCGTACGAAGCCGGCGAGGGGGAGCCAGCAGCG GCGGTCGCCGGCACGCCGCCCAGCATGGTCCGGGAAACCAGGCATCTCTGGGTGGGCAACTTACCCGAGAACGTGCGGGAAGAGAAGATC ATCGAGCATTTCAAACGGTGGGAAGCTGGCTGGCCATCAGAAGACCGTCCCCACGGCTCACCTGACTTTTGTTATTGACTGCACCCACGG GAAGCAGCTCTCCCTGGCAGCAACCGCATCACCACCCCAAGCCCCCAGTCCCAATCGAGGGCTTGTCACCCCACCAATGAAGACCTACAT CGTGTTCTGTGGGGAAAACTGGCCCCATCTGACTCGGGTGACCCCCATGGGTGGGGGATGCCTTGCCCAGGCCAGGGCCACCCTGCCGCT CTGCAGAGGGTCTGTGGCCTCAGCTTCCTTCCCAGTCAGCCCGCTCTGCCCCCAGGAGGTTCCCGAGGCTAAGGGGAAACCCGTGAAGGC TGCGCCTGTGAGGTCTTCAACTTGGGGAACAGTCAAGGACTCACTGAAAGCCCTCTCCTCTTGTGTCTGTGGGCAGGCCGATTAGCTGGA AGGGCCGGGCTCTGATGCCCAGAGGCTGCAATTCCCAGGGCCTGGCCCTGCTTCCCCAGCTAAGCAGGAGTCTTTTGTGCTTGAGCCAAG GAAACATCATTAGATCCGCTAAGGGGCATCTGAAACATCCGTCGAGTGGCAGAGGCAGGATAAGTCACCTGCACATGAAGAGACTCATTC ATTCATACAGCAAATATTACTGGTACATCTTCCACATGCCAGGCCCTGCAAAGTGCTGGGGAGATACCATGGTTTTCCTGGAGCTGGTAT TTTTGGGGTGGAGGGAACCCACCCTGAATAAATAAAGTAACCCAATAAATAAAGAAGATGATTTTGAACAGCGATGAATGCTCTGCAGGA ACTGAAACAGGATGCTAGAGGGAGAGTGATTGGGGTGAAGACCTTTCCTGATGCAGTGCTTGGTAAGGGCCTCTCTGCGCAGGCAACAAA GTGTGATCTAAAAGATGAGAAGGGGCCAGCCCTGAGAAAATCCACCCTCCCCAGGGCCACCTGCTGTCATCTTACCCCAGGGCAGGCCAG AGCAGTGGTCAGAATGCCCCAGCATGACGGGGAGGGGCAACGGGTTTCTTGCTGCCATCTTGGCTCAGAGGCGAGTGTGTAGGTCACTGC AAAGGCAGGGGATACCACGTGGGGAGACTCGAGGGCCATGCCAGTTGGGGCTGGGAGGCTCAGGGAAGTTGGCTCCAGGAGACTCCATCC CATAAGGCAGCCCAGGTGGGACCTGGGGATCTGAGATGGGAAATAAGGGGATCTGGCTTCTCAAAAGGGAGGGAGGTACTCAAAAATAGA GTATCATGTTTGAACGAATGAAAACAAGACATGTTATTTATTGAGCATCTACTGCATACCAGGCTCATGCTGCCCTCTAGGGATAGCAAA AAAAAAAAAAAAAGGTGGGGGGAGGAGGTTCACCCCTCAGGGCAATCGTGTTCCCTGAGCAGGAGGTGGAGTTACTGGTGTGGGTGTGAA GGTGTCTGTGAGTCTAAGGCATGCACAGCACTGTGAGAAACCCTAAAGCAACCTATTTAAGGAAGTCAGTCTCAAAGCTCCCAGATAAAA ATCACTGGGTTTTTCTGTATTTATTTTAGAGACAGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGAACAATCACAGCTCACTGCA GCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTATAGGTGCACCACTACGCCCAGCTTGACTTC TTTTAGTAGAGAAGAGGTCTCACTGTGCTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCTATCCTCCCGCTTCAGCTTCCCTAAGTG CTTGGATTATAGGTGTGAGCCACCGTATCTGGTCATTAATTTATTCAATGACTATTTTACTAGGTTCCTACAAATACTAGCTGCTAACAT TTAACATGTAATTGACCATTTACTCTGTGTCAGAGAAACAACATGGGCACTGTATTTGTGACCATTTTATAGATTAGAGAGCTGAGGCAC AGAGAGGTTGAAGAATGGACTCAAAGTTCCATAGACTGGTACCATTGAGATTAGAACTCAGGCAAGTCTGGTGCCCATATTCTTGCTTGT AACTGTAAGGTATATACCCTCTCATCCTGGTAGCGTCTCTTCTAGGCAGAGGGGACACACAGAGGATAAATGTAACCCTGTCCTCAAGGA GCTCACAGCCAGGTGGGGGAGGCCAGAAAGAAAGCACACAATTGCCATAGCTTCTGAGAAGTGCAACAGTAAGGGCAACACAGAATGATG CTGGAGGACAACCAGCCCACTCTAGAGAGAGGAGATCAGGGAGGACTTCCTGCAGGAAGTGATGCCGAAAATGAGATCTGACCGGTGACT AAGCTATACAAAAGGGTGGGGTGGGGGAGCAAGTGGGGAGTGCTCTGGGCAGAAGGACCAGTCGTTCAGTCTGGCTAGGGTAATTGTCAT TCATTCATTTATTCACCAAGTATTTATTGGGCATCCACTGAATGCCAGGCTTTGGGCTAAACCATGAGATGGAGCAATGAATAAGACAAT GAGGCCCAGCCACAAAATAGTTTATCCTCTAGTTGGGGGAGACAGGCAATGCACACACACAAAACAAACAGATCAGAAAGGTGGCAGGAG GCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGGGAGGCGGGGGGAGATCACCTGAGGTCAGGAGTTC GAGACCAGCCTGGCCAACTTGGCGAAAACCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCGTGGTGGTGGGCACCTATAATCCCAGC TACTTGGGAAGCTGAGGTGAGAGAATTGCTTGAACCTAGAAGGCAGAGGTTGCAGTGAGCCGAGATCTCGCCACTGCACTCCGGCCTGGG |
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FusionGenePPI for SPEN_C1orf64 |
| 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 |
| SPEN | NCOR2, PPARD, HDAC1, SRA1, RBPJ, NCOR1, CTBP1, RBBP8, RUNX1T1, RUNX1, SIRT7, UBE2E2, UBE2L6, ATXN1, NOTCH2, BPGM, TTN, PRDX3, PCBP3, NUP54, PIR, SCYL2, SOX2, HRSP12, SERTAD1, CUL7, OBSL1, EED, BMI1, CCNC, WRAP73, MED23, SRPK2, CLK1, DYNLT1, BCLAF1, FERMT3, USP37, DPPA4, EGFR, TRIML2, CAMKV, PIP4K2A, NR3C1 | C1orf64 | APP, SLC4A2 |
| - 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 |
| Hgene | SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 2130_2464 | 27 | 3665 | MSX2 |
| Hgene | SPEN | chr1:16174645 | chr1:16332414 | ENST00000375759 | + | 1 | 15 | 2709_2870 | 27 | 3665 | RBPSUH |
| - 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 SPEN_C1orf64 |
| 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 SPEN_C1orf64 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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