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Fusion gene ID: 33538 |
FusionGeneSummary for SFXN2_SUFU |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SFXN2_SUFU | Fusion gene ID: 33538 | Hgene | Tgene | Gene symbol | SFXN2 | SUFU | Gene ID | 118980 | 51684 |
| Gene name | sideroflexin 2 | SUFU negative regulator of hedgehog signaling | |
| Synonyms | SLC56A2 | JBTS32|PRO1280|SUFUH|SUFUXL | |
| Cytomap | 10q24.32 | 10q24.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sideroflexin-2 | suppressor of fused homolog | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q96NB2 | Q9UMX1 | |
| Ensembl transtripts involved in fusion gene | ENST00000369893, ENST00000602785, | ENST00000369902, ENST00000369899, ENST00000423559, ENST00000471000, | |
| Fusion gene scores | * DoF score | 1 X 1 X 2=2 | 7 X 6 X 9=378 |
| # samples | 2 | 12 | |
| ** MAII score | log2(2/2*10)=3.32192809488736 | log2(12/378*10)=-1.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SFXN2 [Title/Abstract] AND SUFU [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 |
| Tgene | SUFU | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10564661 |
| 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 | LIHC | TCGA-CC-A7IG-01A | SFXN2 | chr10 | 104474438 | + | SUFU | chr10 | 104352339 | + |
| TCGA | LD | OV | TCGA-25-1323-01A | SFXN2 | chr10 | 104474438 | + | SUFU | chr10 | 104352339 | + |
| * 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 |
| 5UTR-3CDS | ENST00000369893 | ENST00000369902 | SFXN2 | chr10 | 104474438 | + | SUFU | chr10 | 104352339 | + |
| 5UTR-3CDS | ENST00000369893 | ENST00000369899 | SFXN2 | chr10 | 104474438 | + | SUFU | chr10 | 104352339 | + |
| 5UTR-3CDS | ENST00000369893 | ENST00000423559 | SFXN2 | chr10 | 104474438 | + | SUFU | chr10 | 104352339 | + |
| 5UTR-3UTR | ENST00000369893 | ENST00000471000 | SFXN2 | chr10 | 104474438 | + | SUFU | chr10 | 104352339 | + |
| 3UTR-3CDS | ENST00000602785 | ENST00000369902 | SFXN2 | chr10 | 104474438 | + | SUFU | chr10 | 104352339 | + |
| 3UTR-3CDS | ENST00000602785 | ENST00000369899 | SFXN2 | chr10 | 104474438 | + | SUFU | chr10 | 104352339 | + |
| 3UTR-3CDS | ENST00000602785 | ENST00000423559 | SFXN2 | chr10 | 104474438 | + | SUFU | chr10 | 104352339 | + |
| 3UTR-3UTR | ENST00000602785 | ENST00000471000 | SFXN2 | chr10 | 104474438 | + | SUFU | chr10 | 104352339 | + |
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FusionProtFeatures for SFXN2_SUFU |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SFXN2 | SUFU |
| Potential iron transporter. | Negative regulator in the hedgehog/smoothened signalingpathway. Down-regulates GLI1-mediated transactivation of targetgenes (PubMed:15367681, PubMed:24311597, PubMed:24217340). Down-regulates GLI2-mediated transactivation of target genes(PubMed:24311597, PubMed:24217340). Part of a corepressor complexthat acts on DNA-bound GLI1. May also act by linking GLI1 to BTRCand thereby targeting GLI1 to degradation by the proteasome.Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect isovercome by binding of STK36 to both SUFU and a GLI protein(PubMed:10806483, PubMed:24217340). Negative regulator of beta-catenin signaling. Regulates the formation of either the repressorform (GLI3R) or the activator form (GLI3A) of the full-length formof GLI3 (GLI3FL). GLI3FL is complexed with SUFU in the cytoplasmand is maintained in a neutral state. Without the Hh signal, theSUFU-GLI3 complex is recruited to cilia, leading to the efficientprocessing of GLI3FL into GLI3R. When Hh signaling is initiated,SUFU dissociates from GLI3FL and the latter translocates to thenucleus, where it is phosphorylated, destabilized, and convertedto a transcriptional activator (GLI3A). Required for normalembryonic development. Required for the proper formation of hairfollicles and the control of epidermal differentiation (Bysimilarity). {ECO:0000250|UniProtKB:Q9Z0P7,ECO:0000269|PubMed:10559945, ECO:0000269|PubMed:10564661,ECO:0000269|PubMed:10806483, ECO:0000269|PubMed:12068298,ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15367681,ECO:0000269|PubMed:22365972, ECO:0000269|PubMed:24217340,ECO:0000269|PubMed:24311597, ECO:0000269|PubMed:28965847}. |
| 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 SFXN2_SUFU |
| 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 SFXN2_SUFU |
| 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 |
| SFXN2 | SRSF3, ILF2, TOMM70A, SPG7, TOMM7, SLC25A3, MGAT4B, IKBIP, HIPK4, MAPK4, DCP2, KLHL29, RNF2, CDK18, SNX2, NF2 | SUFU | QPRT, GLIS3, RCN3, ZNF446, ZNF764, MID1IP1, ZNF263, PEX26, GLI1, SUFU, GLI2, GLI3, ZNF747, HDX, SAP18, FBXL17, NXPH3, NFATC3, LIPT1, NR2E1, TTLL3, FAM90A1, ALDH1B1, ZBTB46, LDLRAD4, EDEM1, STK36, CDC25C, BFSP2, ZNF785, ZFC3H1, UBE3D, LRRC36, LOXL3, OVOL1, PEX11A, PRPF31, PCK2, BMP4 |
| - 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 SFXN2_SUFU |
| 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 SFXN2_SUFU |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SUFU | C0007117 | Basal cell carcinoma | 1 | CTD_human;HPO |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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