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Fusion gene ID: 34636 |
FusionGeneSummary for SLC9A3R1_FBXO18 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SLC9A3R1_FBXO18 | Fusion gene ID: 34636 | Hgene | Tgene | Gene symbol | SLC9A3R1 | FBXO18 | Gene ID | 9368 |
| Gene name | SLC9A3 regulator 1 | ||
| Synonyms | EBP50|NHERF|NHERF-1|NHERF1|NPHLOP2 | ||
| Cytomap | 17q25.1 | ||
| Type of gene | protein-coding | ||
| Description | Na(+)/H(+) exchange regulatory cofactor NHE-RF1Na+/H+ exchange regulatory co-factorezrin-radixin-moesin binding phosphoprotein-50regulatory cofactor of Na(+)/H(+) exchangersolute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory facto | ||
| Modification date | 20180522 | ||
| UniProtAcc | O14745 | ||
| Ensembl transtripts involved in fusion gene | ENST00000262613, ENST00000413388, | ENST00000397269, ENST00000362091, ENST00000470089, ENST00000379999, | |
| Fusion gene scores | * DoF score | 7 X 8 X 6=336 | 4 X 4 X 3=48 |
| # samples | 9 | 4 | |
| ** MAII score | log2(9/336*10)=-1.90046432644909 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SLC9A3R1 [Title/Abstract] AND FBXO18 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | SLC9A3R1 | GO:0008285 | negative regulation of cell proliferation | 20012548 |
| Hgene | SLC9A3R1 | GO:0070373 | negative regulation of ERK1 and ERK2 cascade | 20012548 |
| Hgene | SLC9A3R1 | GO:2001244 | positive regulation of intrinsic apoptotic signaling pathway | 20012548 |
| 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 | PRAD | TCGA-EJ-7318-01B | SLC9A3R1 | chr17 | 72745426 | + | FBXO18 | chr10 | 5978419 | + |
| * 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 | ENST00000262613 | ENST00000397269 | SLC9A3R1 | chr17 | 72745426 | + | FBXO18 | chr10 | 5978419 | + |
| In-frame | ENST00000262613 | ENST00000362091 | SLC9A3R1 | chr17 | 72745426 | + | FBXO18 | chr10 | 5978419 | + |
| 5CDS-intron | ENST00000262613 | ENST00000470089 | SLC9A3R1 | chr17 | 72745426 | + | FBXO18 | chr10 | 5978419 | + |
| 5CDS-intron | ENST00000262613 | ENST00000379999 | SLC9A3R1 | chr17 | 72745426 | + | FBXO18 | chr10 | 5978419 | + |
| intron-3CDS | ENST00000413388 | ENST00000397269 | SLC9A3R1 | chr17 | 72745426 | + | FBXO18 | chr10 | 5978419 | + |
| intron-3CDS | ENST00000413388 | ENST00000362091 | SLC9A3R1 | chr17 | 72745426 | + | FBXO18 | chr10 | 5978419 | + |
| intron-intron | ENST00000413388 | ENST00000470089 | SLC9A3R1 | chr17 | 72745426 | + | FBXO18 | chr10 | 5978419 | + |
| intron-intron | ENST00000413388 | ENST00000379999 | SLC9A3R1 | chr17 | 72745426 | + | FBXO18 | chr10 | 5978419 | + |
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FusionProtFeatures for SLC9A3R1_FBXO18 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SLC9A3R1 | FBXO18 |
| Scaffold protein that connects plasma membrane proteinswith members of the ezrin/moesin/radixin family and thereby helpsto link them to the actin cytoskeleton and to regulate theirsurface expression. Necessary for recycling of internalized ADRB2.Was first known to play a role in the regulation of the activityand subcellular location of SLC9A3. Necessary for cAMP-mediatedphosphorylation and inhibition of SLC9A3. May enhance Wntsignaling. May participate in HTR4 targeting to microvilli (Bysimilarity). Involved in the regulation of phosphate reabsorptionin the renal proximal tubules. Involved in sperm capacitation. Mayparticipate in the regulation of the chloride and bicarbonatehomeostasis in spermatozoa. {ECO:0000250,ECO:0000269|PubMed:10499588, ECO:0000269|PubMed:18784102,ECO:0000269|PubMed:9096337, ECO:0000269|PubMed:9430655}. | 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 |
| Hgene | SLC9A3R1 | chr17:72745426 | chr10:5978419 | ENST00000262613 | + | 1 | 6 | 14_94 | 147 | 359 | Domain | PDZ 1 |
| - 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 | >SLC9A3R1 | chr17:72745426 | chr10:5978419 | ENST00000262613 | + | 1 | 6 | 154_234 | 147 | 359 | Domain | PDZ 2 |
| Tgene | FBXO18 | chr17:72745426 | chr10:5978419 | ENST00000362091 | + | 18 | 21 | 138_184 | 943 | 1044 | Domain | F-box |
| Tgene | FBXO18 | chr17:72745426 | chr10:5978419 | ENST00000362091 | + | 18 | 21 | 442_705 | 943 | 1044 | Domain | UvrD-like helicase ATP-binding |
| Tgene | FBXO18 | chr17:72745426 | chr10:5978419 | ENST00000379999 | + | 19 | 22 | 138_184 | 994 | 1095 | Domain | F-box |
| Tgene | FBXO18 | chr17:72745426 | chr10:5978419 | ENST00000379999 | + | 19 | 22 | 442_705 | 994 | 1095 | Domain | UvrD-like helicase ATP-binding |
| Tgene | FBXO18 | chr17:72745426 | chr10:5978419 | ENST00000362091 | + | 18 | 21 | 57_64 | 943 | 1044 | Motif | PIP-box |
| Tgene | FBXO18 | chr17:72745426 | chr10:5978419 | ENST00000362091 | + | 18 | 21 | 807_811 | 943 | 1044 | Motif | APIM motif |
| Tgene | FBXO18 | chr17:72745426 | chr10:5978419 | ENST00000379999 | + | 19 | 22 | 57_64 | 994 | 1095 | Motif | PIP-box |
| Tgene | FBXO18 | chr17:72745426 | chr10:5978419 | ENST00000379999 | + | 19 | 22 | 807_811 | 994 | 1095 | Motif | APIM motif |
| Tgene | FBXO18 | chr17:72745426 | chr10:5978419 | ENST00000362091 | + | 18 | 21 | 463_470 | 943 | 1044 | Nucleotide binding | ATP |
| Tgene | FBXO18 | chr17:72745426 | chr10:5978419 | ENST00000379999 | + | 19 | 22 | 463_470 | 994 | 1095 | Nucleotide binding | ATP |
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FusionGeneSequence for SLC9A3R1_FBXO18 |
| 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_SLC9A3R1_ENST00000262613_chr17_72745426_+_FBXO18_ENST00000397269_chr10_5978419_+_248aa MSADAAAGAPLPRLCCLEKGPNGYGFHLHGEKGKLGQYIRLVEPGSPAEKAGLLAGDRLVEVNGENVEKETHQQVVSRIRAALNAVRLLV VDPETDEQLQKLGVQVREELLRAQEAPGQAEPPAAAEVQGAGNENEPREADKSHPEQEYFLQAELTSNVLKTGVVRCCVGQCNNAIPVDT >In-frame_SLC9A3R1_ENST00000262613_chr17_72745426_+_FBXO18_ENST00000362091_chr10_5978419_+_248aa MSADAAAGAPLPRLCCLEKGPNGYGFHLHGEKGKLGQYIRLVEPGSPAEKAGLLAGDRLVEVNGENVEKETHQQVVSRIRAALNAVRLLV VDPETDEQLQKLGVQVREELLRAQEAPGQAEPPAAAEVQGAGNENEPREADKSHPEQEYFLQAELTSNVLKTGVVRCCVGQCNNAIPVDT |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SLC9A3R1_ENST00000262613_chr17_72745426_+_FBXO18_ENST00000397269_chr10_5978419_+_744nt ATGAGCGCGGACGCAGCGGCCGGGGCGCCCCTGCCCCGGCTCTGCTGCCTGGAGAAGGGTCCGAACGGCTACGGCTTCCACCTGCACGGG GAGAAGGGCAAGTTGGGCCAGTACATCCGGCTGGTGGAGCCCGGCTCGCCGGCCGAGAAGGCGGGGCTGCTGGCGGGGGACCGGCTGGTG GAGGTGAACGGCGAAAACGTGGAGAAGGAGACCCACCAGCAGGTGGTGAGCCGCATCCGCGCCGCACTCAACGCCGTGCGCCTGCTGGTG GTCGACCCCGAGACGGACGAGCAGCTGCAGAAGCTCGGCGTCCAGGTCCGAGAGGAGCTGCTGCGCGCCCAGGAAGCGCCGGGGCAGGCC GAGCCGCCGGCCGCCGCCGAGGTGCAGGGGGCTGGCAACGAAAATGAGCCTCGCGAGGCCGACAAGAGCCACCCGGAGCAGGAGTACTTC TTGCAAGCAGAGCTGACAAGCAACGTCTTAAAAACAGGCGTGGTGCGCTGCTGCGTGGGACAGTGCAACAATGCCATCCCTGTTGACACC GTCCTTACCATGAAGAAGCTGCCCATCACCTATAGCAACAGGAAGGAAAACAAGGGGGGCTACCTCTGCCACTCCTGTGCGGAGCAGCGC ATCGGGCCCCTGGCGTTCCTGACAGCCTCCCCGGAGCAGGTGCGCGCCATGGAGCGCACTGTGGAGAACATCGTACTGCCCCGGCATGAG >In-frame_SLC9A3R1_ENST00000262613_chr17_72745426_+_FBXO18_ENST00000362091_chr10_5978419_+_744nt ATGAGCGCGGACGCAGCGGCCGGGGCGCCCCTGCCCCGGCTCTGCTGCCTGGAGAAGGGTCCGAACGGCTACGGCTTCCACCTGCACGGG GAGAAGGGCAAGTTGGGCCAGTACATCCGGCTGGTGGAGCCCGGCTCGCCGGCCGAGAAGGCGGGGCTGCTGGCGGGGGACCGGCTGGTG GAGGTGAACGGCGAAAACGTGGAGAAGGAGACCCACCAGCAGGTGGTGAGCCGCATCCGCGCCGCACTCAACGCCGTGCGCCTGCTGGTG GTCGACCCCGAGACGGACGAGCAGCTGCAGAAGCTCGGCGTCCAGGTCCGAGAGGAGCTGCTGCGCGCCCAGGAAGCGCCGGGGCAGGCC GAGCCGCCGGCCGCCGCCGAGGTGCAGGGGGCTGGCAACGAAAATGAGCCTCGCGAGGCCGACAAGAGCCACCCGGAGCAGGAGTACTTC TTGCAAGCAGAGCTGACAAGCAACGTCTTAAAAACAGGCGTGGTGCGCTGCTGCGTGGGACAGTGCAACAATGCCATCCCTGTTGACACC GTCCTTACCATGAAGAAGCTGCCCATCACCTATAGCAACAGGAAGGAAAACAAGGGGGGCTACCTCTGCCACTCCTGTGCGGAGCAGCGC ATCGGGCCCCTGGCGTTCCTGACAGCCTCCCCGGAGCAGGTGCGCGCCATGGAGCGCACTGTGGAGAACATCGTACTGCCCCGGCATGAG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SLC9A3R1_ENST00000262613_chr17_72745426_+_FBXO18_ENST00000397269_chr10_5978419_+_1245nt GTCTGTGGTCCTCTCTCGGCTCCTCGCGGCTCGCGGCGGCCGACGGTTCCTGGGACACCTGCTTGCTTGGCCCGTCCGGCGGCTCAGGGC TTCTCTGCTGCGCTCCCGGTTCGCTGGACGGGAAGAAGGGCTGGGCCGTCCCGTCCCGTCCCCATCGGAACCCCAAGTCGCGCCGCTGAC CCGTCGCAGGGCGAGATGAGCGCGGACGCAGCGGCCGGGGCGCCCCTGCCCCGGCTCTGCTGCCTGGAGAAGGGTCCGAACGGCTACGGC TTCCACCTGCACGGGGAGAAGGGCAAGTTGGGCCAGTACATCCGGCTGGTGGAGCCCGGCTCGCCGGCCGAGAAGGCGGGGCTGCTGGCG GGGGACCGGCTGGTGGAGGTGAACGGCGAAAACGTGGAGAAGGAGACCCACCAGCAGGTGGTGAGCCGCATCCGCGCCGCACTCAACGCC GTGCGCCTGCTGGTGGTCGACCCCGAGACGGACGAGCAGCTGCAGAAGCTCGGCGTCCAGGTCCGAGAGGAGCTGCTGCGCGCCCAGGAA GCGCCGGGGCAGGCCGAGCCGCCGGCCGCCGCCGAGGTGCAGGGGGCTGGCAACGAAAATGAGCCTCGCGAGGCCGACAAGAGCCACCCG GAGCAGGAGTACTTCTTGCAAGCAGAGCTGACAAGCAACGTCTTAAAAACAGGCGTGGTGCGCTGCTGCGTGGGACAGTGCAACAATGCC ATCCCTGTTGACACCGTCCTTACCATGAAGAAGCTGCCCATCACCTATAGCAACAGGAAGGAAAACAAGGGGGGCTACCTCTGCCACTCC TGTGCGGAGCAGCGCATCGGGCCCCTGGCGTTCCTGACAGCCTCCCCGGAGCAGGTGCGCGCCATGGAGCGCACTGTGGAGAACATCGTA CTGCCCCGGCATGAGGCCCTGCTCTTCCTCGTCTTCTGAGGACAAGGCGCACGTTCTCCGCAGTGCAGAGCAGCTTGCCGAGGACCCCGC GTGAAGAAAGCCAGCGAGGGGGGCTTCTGCTCCCTGAGACTCTGGGTTCACCCACAGCACTTTCTGAGGAAGAGGACACCAGCCCAAGCT GGACCTGCCATTTCTCCACTCCCTACAGACAGCCAGTCTCCACTTGCCTCCCCTCTGGATGTATCTGGTCAGGGAAGTGGGGGATGTTCT >In-frame_SLC9A3R1_ENST00000262613_chr17_72745426_+_FBXO18_ENST00000362091_chr10_5978419_+_1252nt GTCTGTGGTCCTCTCTCGGCTCCTCGCGGCTCGCGGCGGCCGACGGTTCCTGGGACACCTGCTTGCTTGGCCCGTCCGGCGGCTCAGGGC TTCTCTGCTGCGCTCCCGGTTCGCTGGACGGGAAGAAGGGCTGGGCCGTCCCGTCCCGTCCCCATCGGAACCCCAAGTCGCGCCGCTGAC CCGTCGCAGGGCGAGATGAGCGCGGACGCAGCGGCCGGGGCGCCCCTGCCCCGGCTCTGCTGCCTGGAGAAGGGTCCGAACGGCTACGGC TTCCACCTGCACGGGGAGAAGGGCAAGTTGGGCCAGTACATCCGGCTGGTGGAGCCCGGCTCGCCGGCCGAGAAGGCGGGGCTGCTGGCG GGGGACCGGCTGGTGGAGGTGAACGGCGAAAACGTGGAGAAGGAGACCCACCAGCAGGTGGTGAGCCGCATCCGCGCCGCACTCAACGCC GTGCGCCTGCTGGTGGTCGACCCCGAGACGGACGAGCAGCTGCAGAAGCTCGGCGTCCAGGTCCGAGAGGAGCTGCTGCGCGCCCAGGAA GCGCCGGGGCAGGCCGAGCCGCCGGCCGCCGCCGAGGTGCAGGGGGCTGGCAACGAAAATGAGCCTCGCGAGGCCGACAAGAGCCACCCG GAGCAGGAGTACTTCTTGCAAGCAGAGCTGACAAGCAACGTCTTAAAAACAGGCGTGGTGCGCTGCTGCGTGGGACAGTGCAACAATGCC ATCCCTGTTGACACCGTCCTTACCATGAAGAAGCTGCCCATCACCTATAGCAACAGGAAGGAAAACAAGGGGGGCTACCTCTGCCACTCC TGTGCGGAGCAGCGCATCGGGCCCCTGGCGTTCCTGACAGCCTCCCCGGAGCAGGTGCGCGCCATGGAGCGCACTGTGGAGAACATCGTA CTGCCCCGGCATGAGGCCCTGCTCTTCCTCGTCTTCTGAGGACAAGGCGCACGTTCTCCGCAGTGCAGAGCAGCTTGCCGAGGACCCCGC GTGAAGAAAGCCAGCGAGGGGGGCTTCTGCTCCCTGAGACTCTGGGTTCACCCACAGCACTTTCTGAGGAAGAGGACACCAGCCCAAGCT GGACCTGCCATTTCTCCACTCCCTACAGACAGCCAGTCTCCACTTGCCTCCCCTCTGGATGTATCTGGTCAGGGAAGTGGGGGATGTTCT |
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FusionGenePPI for SLC9A3R1_FBXO18 |
| 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 |
| SLC9A3R1 | KCNJ1, OPRK1, SLC9A3R1, SLC9A3, PDZK1, CTNNB1, ABCC2, CFTR, PLCB1, YAP1, YES1, ADRB2, GNB2L1, SLC4A8, NOS2, MSN, NF2, TBC1D10A, CLCN3, PTH1R, PDGFRA, PDGFRB, P2RY1, PAG1, EZR, SCN4A, PHLPP2, MME, PTEN, TCF3, UQCRFS1P1, RNASET2, TACC1, UQCRFS1, MDH1, PCYOX1, RPS3, PPME1, PALM2, EPHB1, ABCC4, BCL10, ZNF468, GNA11, CAPN1, CKB, G6PD, LDHB, NANS, RPL23, CNDP2, CSE1L, DAK, ECHS1, FTO, GDA, LDHAL6B, NPEPPS, PDIA3, RPS6KA3, SMEK2, SMS, YWHAB, TGM2, UBFD1, YWHAQ, YWHAZ, SKP2, AKT1, IREB2, NTRK1, SLC4A7, PRKCA, CDCA5, U2AF2, PHLPP1, CDH1, SNRNP27, MAPK1, CDH2, PTPRQ | FBXO18 | SKP1, CUL1, RBX1, HSP90AA1, RAD51, RPA1, RPA2, RPA3, PCNA, DTL, ZDHHC17, ESR1, PRR3, ILKAP, RALA, SYNCRIP, MRRF, UBC |
| - 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 SLC9A3R1_FBXO18 |
| 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 SLC9A3R1_FBXO18 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SLC9A3R1 | C2676782 | Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 | 2 | CTD_human;UNIPROT |
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