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Fusion gene ID: 32516 |
FusionGeneSummary for S100A9_TCOF1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: S100A9_TCOF1 | Fusion gene ID: 32516 | Hgene | Tgene | Gene symbol | S100A9 | TCOF1 | Gene ID | 6280 | 6949 |
| Gene name | S100 calcium binding protein A9 | treacle ribosome biogenesis factor 1 | |
| Synonyms | 60B8AG|CAGB|CFAG|CGLB|L1AG|LIAG|MAC387|MIF|MRP14|NIF|P14 | MFD1|TCS|TCS1|treacle | |
| Cytomap | 1q21.3 | 5q32-q33.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein S100-A9MRP-14calgranulin Bcalprotectin L1H subunitleukocyte L1 complex heavy chainmigration inhibitory factor-related protein 14 | treacle proteinTreacher Collins syndrome proteinTreacher Collins-Franceschetti syndrome 1nucleolar trafficking phosphoprotein | |
| Modification date | 20180527 | 20180522 | |
| UniProtAcc | P06702 | Q13428 | |
| Ensembl transtripts involved in fusion gene | ENST00000368738, | ENST00000451292, ENST00000377797, ENST00000445265, ENST00000323668, ENST00000439160, ENST00000394269, ENST00000504761, ENST00000513346, ENST00000506063, | |
| Fusion gene scores | * DoF score | 7 X 4 X 3=84 | 9 X 8 X 8=576 |
| # samples | 7 | 10 | |
| ** MAII score | log2(7/84*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/576*10)=-2.52606881166759 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: S100A9 [Title/Abstract] AND TCOF1 [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 | S100A9 | GO:0002523 | leukocyte migration involved in inflammatory response | 12626582 |
| Hgene | S100A9 | GO:0006914 | autophagy | 19935772 |
| Hgene | S100A9 | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 19935772 |
| Hgene | S100A9 | GO:0030593 | neutrophil chemotaxis | 12626582 |
| Hgene | S100A9 | GO:0035606 | peptidyl-cysteine S-trans-nitrosylation | 25417112 |
| Hgene | S100A9 | GO:0035821 | modification of morphology or physiology of other organism | 12874352 |
| Hgene | S100A9 | GO:0050729 | positive regulation of inflammatory response | 12626582 |
| Hgene | S100A9 | GO:0061844 | antimicrobial humoral immune response mediated by antimicrobial peptide | 12874352 |
| Hgene | S100A9 | GO:0070488 | neutrophil aggregation | 12626582 |
| Hgene | S100A9 | GO:2001244 | positive regulation of intrinsic apoptotic signaling pathway | 19935772 |
| 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 | RV | CESC | TCGA-MA-AA3X-01A | S100A9 | chr1 | 153333503 | + | TCOF1 | chr5 | 149777917 | + |
| * 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 | ENST00000368738 | ENST00000451292 | S100A9 | chr1 | 153333503 | + | TCOF1 | chr5 | 149777917 | + |
| Frame-shift | ENST00000368738 | ENST00000377797 | S100A9 | chr1 | 153333503 | + | TCOF1 | chr5 | 149777917 | + |
| Frame-shift | ENST00000368738 | ENST00000445265 | S100A9 | chr1 | 153333503 | + | TCOF1 | chr5 | 149777917 | + |
| Frame-shift | ENST00000368738 | ENST00000323668 | S100A9 | chr1 | 153333503 | + | TCOF1 | chr5 | 149777917 | + |
| Frame-shift | ENST00000368738 | ENST00000439160 | S100A9 | chr1 | 153333503 | + | TCOF1 | chr5 | 149777917 | + |
| 5CDS-intron | ENST00000368738 | ENST00000394269 | S100A9 | chr1 | 153333503 | + | TCOF1 | chr5 | 149777917 | + |
| 5CDS-intron | ENST00000368738 | ENST00000504761 | S100A9 | chr1 | 153333503 | + | TCOF1 | chr5 | 149777917 | + |
| 5CDS-intron | ENST00000368738 | ENST00000513346 | S100A9 | chr1 | 153333503 | + | TCOF1 | chr5 | 149777917 | + |
| 5CDS-intron | ENST00000368738 | ENST00000506063 | S100A9 | chr1 | 153333503 | + | TCOF1 | chr5 | 149777917 | + |
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FusionProtFeatures for S100A9_TCOF1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| S100A9 | TCOF1 |
| S100A9 is a calcium- and zinc-binding protein whichplays a prominent role in the regulation of inflammatory processesand immune response. It can induce neutrophil chemotaxis,adhesion, can increase the bactericidal activity of neutrophils bypromoting phagocytosis via activation of SYK, PI3K/AKT, and ERK1/2and can induce degranulation of neutrophils by a MAPK-dependentmechanism. Predominantly found as calprotectin (S100A8/A9) whichhas a wide plethora of intra- and extracellular functions. Theintracellular functions include: facilitating leukocytearachidonic acid trafficking and metabolism, modulation of thetubulin-dependent cytoskeleton during migration of phagocytes andactivation of the neutrophilic NADPH-oxidase. Activates NADPH-oxidase by facilitating the enzyme complex assembly at the cellmembrane, transferring arachidonic acid, an essential cofactor, tothe enzyme complex and S100A8 contributes to the enzyme assemblyby directly binding to NCF2/P67PHOX. The extracellular functionsinvolve proinflammatory, antimicrobial, oxidant-scavenging andapoptosis-inducing activities. Its proinflammatory activityincludes recruitment of leukocytes, promotion of cytokine andchemokine production, and regulation of leukocyte adhesion andmigration. Acts as an alarmin or a danger associated molecularpattern (DAMP) molecule and stimulates innate immune cells viabinding to pattern recognition receptors such as Toll-likereceptor 4 (TLR4) and receptor for advanced glycation endproducts(AGER). Binding to TLR4 and AGER activates the MAP-kinase and NF-kappa-B signaling pathways resulting in the amplification of theproinflammatory cascade. Has antimicrobial activity towardsbacteria and fungi and exerts its antimicrobial activity probablyvia chelation of Zn(2+) which is essential for microbial growth.Can induce cell death via autophagy and apoptosis and this occursthrough the cross-talk of mitochondria and lysosomes via reactiveoxygen species (ROS) and the process involves BNIP3. Can regulateneutrophil number and apoptosis by an anti-apoptotic effect;regulates cell survival via ITGAM/ITGB and TLR4 and a signalingmechanism involving MEK-ERK. Its role as an oxidant scavenger hasa protective role in preventing exaggerated tissue damage byscavenging oxidants. Can act as a potent amplifier of inflammationin autoimmunity as well as in cancer development and tumor spread.Has transnitrosylase activity; in oxidatively-modified low-densitity lipoprotein (LDL(ox))-induced S-nitrosylation of GAPDHon 'Cys-247' proposed to transfer the NO moiety from NOS2/iNOS toGAPDH via its own S-nitrosylated Cys-3. The iNOS-S100A8/A9transnitrosylase complex is proposed to also direct selectiveinflammatory stimulus-dependent S-nitrosylation of multipletargets such as ANXA5, EZR, MSN and VIM by recognizing a [IL]-x-C-x-x-[DE] motif. {ECO:0000269|PubMed:12626582,ECO:0000269|PubMed:15331440, ECO:0000269|PubMed:15598812,ECO:0000269|PubMed:15642721, ECO:0000269|PubMed:16258195,ECO:0000269|PubMed:19087201, ECO:0000269|PubMed:19122197,ECO:0000269|PubMed:19402754, ECO:0000269|PubMed:19534726,ECO:0000269|PubMed:19935772, ECO:0000269|PubMed:20103766,ECO:0000269|PubMed:21325622, ECO:0000269|PubMed:21487906,ECO:0000269|PubMed:22363402, ECO:0000269|PubMed:22804476,ECO:0000269|PubMed:22808130, ECO:0000269|PubMed:25417112,ECO:0000269|PubMed:8423249}. | Nucleolar protein that acts as a regulator of RNApolymerase I by connecting RNA polymerase I with enzymesresponsible for ribosomal processing and modification(PubMed:12777385, PubMed:26399832). Required for neural crestspecification: following monoubiquitination by the BCR(KBTBD8)complex, associates with NOLC1 and acts as a platform to connectRNA polymerase I with enzymes responsible for ribosomal processingand modification, leading to remodel the translational program ofdifferentiating cells in favor of neural crest specification(PubMed:26399832). {ECO:0000269|PubMed:12777385,ECO:0000269|PubMed:26399832}. |
| 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 S100A9_TCOF1 |
| 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 S100A9_TCOF1 |
| 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 |
| S100A9 | TAGLN, ASB3, USF2, PAK7, NUAK1, ILK, S100A9, S100A8, CDC42, TOPORS, PPP2R1A, PPP2R2B, RAD21, ARRB1, ARRB2, CUL5, CUL2, COPS5, SHC1, SRSF10, GTF3C1, RBM39, U2AF1, SF3B6, SMARCA5, SART1, THRAP3, EIF4A3, TOP1, CD2BP2, TRA2A, TRA2B, PSMA5, VTN, SAP18, UTP14A, TPBG, ZC3H18, SRRT, SUPT16H, DHX15, NCSTN, SON, SRSF5, TRIM55, SRSF7, SSRP1, MATR3, RBM14, SRSF3, ZNF326, ACIN1, PSRC1, CPLX1, PSMB7, DEK, SRSF11, RNPS1, TOP2B, PRPF8, U2AF2, SURF4, LUC7L3, SSSCA1, TLE3, UNK, DSTN, HNRNPU, DDX21, TPR, NUBP2, METTL23, CFTR, EGFR, NCF2, SIRT6, NTRK1, PTEN, EWSR1, MCM2, MCM5, NF2, GRB2, ZNF207, MAPK14, TUBB, TUBA1A, TBC1D22B, PDE4DIP, PI4KA, SUSD3, DDX19B, AIRE, NPPA, ZIC1, FAM60A, CYLD, TRIM25, G3BP1 | TCOF1 | ARRB2, ARRB1, USP44, WDR48, GPN1, TERF2, NOP56, TOP1, SIRT7, CAND1, GRK5, NDUFV1, OXCT1, SEC22B, S100A16, HPDL, SEPT11, SIX4, PPT1, SRSF10, NPTX1, ESR1, ECT2, PNKP, PAN2, IGSF8, ICAM1, TM9SF1, SRPK2, RPA1, RPA2, RPA3, LGR4, CSNK2A2, CDK2, LIN28A, PRKRA, TARBP2, CUL7, OBSL1, EED, SIRT6, ZBTB38, DENND2D, RASSF9, NTRK1, OFD1, XPO1, HIST1H3E, AKT1, SORT1, BECN1, RASSF8, L1TD1, BAG6, KBTBD8, NOLC1, POLR1A, POLR1B, DKC1, NHP2, NOP58, CSNK2A1, EGFR, CAMKV, PIP4K2A, UBC, ZNHIT2, TRIM25, BRCA1 |
| - 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 S100A9_TCOF1 |
| 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 |
| Hgene | S100A9 | P06702 | DB01593 | Zinc | Protein S100-A9 | small molecule | approved|investigational |
| Hgene | S100A9 | P06702 | DB01373 | Calcium | Protein S100-A9 | small molecule | approved|nutraceutical |
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RelatedDiseases for S100A9_TCOF1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | S100A9 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Hgene | S100A9 | C0022548 | Keloid | 1 | CTD_human |
| Hgene | S100A9 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | S100A9 | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
| Hgene | S100A9 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | TCOF1 | C0242387 | Mandibulofacial Dysostosis | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | TCOF1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
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