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Fusion gene ID: 35726 |
FusionGeneSummary for SPN_MPO |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SPN_MPO | Fusion gene ID: 35726 | Hgene | Tgene | Gene symbol | SPN | MPO | Gene ID | 10522 | 4353 |
| Gene name | DEAF1, transcription factor | myeloperoxidase | |
| Synonyms | MRD24|NUDR|SPN|ZMYND5 | - | |
| Cytomap | 11p15.5 | 17q22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | deformed epidermal autoregulatory factor 1 homolognuclear DEAF-1-related transcriptional regulatorsuppressinzinc finger MYND domain-containing protein 5 | myeloperoxidase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P16150 | P05164 | |
| Ensembl transtripts involved in fusion gene | ENST00000395389, ENST00000360121, | ENST00000340482, ENST00000225275, ENST00000578493, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 10 X 12 X 2=240 |
| # samples | 1 | 11 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(11/240*10)=-1.12553088208386 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SPN [Title/Abstract] AND MPO [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 | SPN | GO:0000122 | negative regulation of transcription by RNA polymerase II | 24726472 |
| Hgene | SPN | GO:0033599 | regulation of mammary gland epithelial cell proliferation | 18826651 |
| Hgene | SPN | GO:0045892 | negative regulation of transcription, DNA-templated | 24726472 |
| Hgene | SPN | GO:0045893 | positive regulation of transcription, DNA-templated | 24726472 |
| Tgene | MPO | GO:0034374 | low-density lipoprotein particle remodeling | 10772654 |
| Tgene | MPO | GO:0042744 | hydrogen peroxide catabolic process | 10772654|11907569 |
| Tgene | MPO | GO:0055114 | oxidation-reduction process | 10772654 |
| 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 | LAML | TCGA-AB-2991-03A | SPN | chr16 | 29676755 | + | MPO | chr17 | 56355551 | - |
| * 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 |
| 3UTR-intron | ENST00000395389 | ENST00000340482 | SPN | chr16 | 29676755 | + | MPO | chr17 | 56355551 | - |
| 3UTR-intron | ENST00000395389 | ENST00000225275 | SPN | chr16 | 29676755 | + | MPO | chr17 | 56355551 | - |
| 3UTR-intron | ENST00000395389 | ENST00000578493 | SPN | chr16 | 29676755 | + | MPO | chr17 | 56355551 | - |
| 3UTR-intron | ENST00000360121 | ENST00000340482 | SPN | chr16 | 29676755 | + | MPO | chr17 | 56355551 | - |
| 3UTR-intron | ENST00000360121 | ENST00000225275 | SPN | chr16 | 29676755 | + | MPO | chr17 | 56355551 | - |
| 3UTR-intron | ENST00000360121 | ENST00000578493 | SPN | chr16 | 29676755 | + | MPO | chr17 | 56355551 | - |
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FusionProtFeatures for SPN_MPO |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SPN | MPO |
| Predominant cell surface sialoprotein of leukocyteswhich regulates multiple T-cell functions, including T-cellactivation, proliferation, differentiation, trafficking andmigration. Positively regulates T-cell trafficking to lymph-nodesvia its association with ERM proteins (EZR, RDX and MSN) (Bysimilarity). Negatively regulates Th2 cell differentiation andpredisposes the differentiation of T-cells towards a Th1 lineagecommitment. Promotes the expression of IFN-gamma by T-cells duringT-cell receptor (TCR) activation of naive cells and induces theexpression of IFN-gamma by CD4(+) T-cells and to a lesser extentby CD8(+) T-cells (PubMed:18036228). Plays a role in preparing T-cells for cytokine sensing and differentiation into effector cellsby inducing the expression of cytokine receptors IFNGR and IL4R,promoting IFNGR and IL4R signaling and by mediating the clusteringof IFNGR with TCR (PubMed:24328034). Acts as a major E-selectinligand responsible for Th17 cell rolling on activated vasculatureand recruitment during inflammation. Mediates Th17 cells, but notTh1 cells, adhesion to E-selectin. Acts as a T-cell counter-receptor for SIGLEC1 (By similarity).{ECO:0000250|UniProtKB:P15702, ECO:0000269|PubMed:18036228,ECO:0000269|PubMed:24328034}. CD43 cytoplasmic tail: Protects cells from apoptoticsignals, promoting cell survival. {ECO:0000250|UniProtKB:P15702}. | Part of the host defense system of polymorphonuclearleukocytes. It is responsible for microbicidal activity against awide range of organisms. In the stimulated PMN, MPO catalyzes theproduction of hypohalous acids, primarily hypochlorous acid inphysiologic situations, and other toxic intermediates that greatlyenhance PMN microbicidal activity. {ECO:0000269|PubMed:9922160}. |
| 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 SPN_MPO |
| 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 SPN_MPO |
| 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 |
| SPN | EZR, MSN, LGALS1, DAXX, SHMT2, SLC39A11, SAAL1, EIF2B3, EIF2B5, EIF2B4, EIF2B2, SPAG9, LMNA | MPO | RAD21, ICE2, FRMD1, APCDD1, PLB1 |
| - 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 SPN_MPO |
| 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 | MPO | P05164 | DB00244 | Mesalazine | Myeloperoxidase | small molecule | approved |
| Tgene | MPO | P05164 | DB00535 | Cefdinir | Myeloperoxidase | small molecule | approved |
| Tgene | MPO | P05164 | DB00583 | L-Carnitine | Myeloperoxidase | small molecule | approved|investigational |
| Tgene | MPO | P05164 | DB01065 | Melatonin | Myeloperoxidase | small molecule | approved|nutraceutical|vet_approved |
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RelatedDiseases for SPN_MPO |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SPN | C0006663 | Calcinosis | 1 | CTD_human |
| Hgene | SPN | C0018824 | Heart valve disease | 1 | CTD_human |
| Tgene | MPO | C0035126 | Reperfusion Injury | 6 | CTD_human |
| Tgene | MPO | C0021368 | Inflammation | 5 | CTD_human |
| Tgene | MPO | C0009324 | Ulcerative Colitis | 3 | CTD_human |
| Tgene | MPO | C0398595 | Myeloperoxidase Deficiency | 3 | CTD_human;ORPHANET;UNIPROT |
| Tgene | MPO | C0003873 | Rheumatoid Arthritis | 2 | CTD_human |
| Tgene | MPO | C0023891 | Liver Cirrhosis, Alcoholic | 2 | CTD_human |
| Tgene | MPO | C0001969 | Alcoholic Intoxication | 1 | PSYGENET |
| Tgene | MPO | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| Tgene | MPO | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Tgene | MPO | C0006111 | Brain Diseases | 1 | CTD_human |
| Tgene | MPO | C0007222 | Cardiovascular Diseases | 1 | CTD_human |
| Tgene | MPO | C0007786 | Brain Ischemia | 1 | CTD_human |
| Tgene | MPO | C0009319 | Colitis | 1 | CTD_human |
| Tgene | MPO | C0011609 | Drug Eruptions | 1 | CTD_human |
| Tgene | MPO | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| Tgene | MPO | C0022593 | Keratosis | 1 | CTD_human |
| Tgene | MPO | C0022658 | Kidney Diseases | 1 | CTD_human |
| Tgene | MPO | C0024115 | Lung diseases | 1 | CTD_human |
| Tgene | MPO | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Tgene | MPO | C0028797 | Occupational Diseases | 1 | CTD_human |
| Tgene | MPO | C0030305 | Pancreatitis | 1 | CTD_human |
| Tgene | MPO | C0032927 | Precancerous Conditions | 1 | CTD_human |
| Tgene | MPO | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | MPO | C0036982 | Shock, Hemorrhagic | 1 | CTD_human |
| Tgene | MPO | C0040954 | Infection by Trichuris trichiura | 1 | CTD_human |
| Tgene | MPO | C0042109 | Urticaria | 1 | CTD_human |
| Tgene | MPO | C0242184 | Hypoxia | 1 | CTD_human |
| Tgene | MPO | C0993582 | Arthritis, Experimental | 1 | CTD_human |
| Tgene | MPO | C1269683 | Major Depressive Disorder | 1 | CTD_human |
| Tgene | MPO | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | MPO | C2609414 | Acute kidney injury | 1 | CTD_human |
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