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Fusion gene ID: 34398 |
FusionGeneSummary for SLC38A10_RPTOR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SLC38A10_RPTOR | Fusion gene ID: 34398 | Hgene | Tgene | Gene symbol | SLC38A10 | RPTOR | Gene ID | 124565 | 57521 |
| Gene name | solute carrier family 38 member 10 | regulatory associated protein of MTOR complex 1 | |
| Synonyms | PP1744 | KOG1|Mip1 | |
| Cytomap | 17q25.3 | 17q25.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | putative sodium-coupled neutral amino acid transporter 10 | regulatory-associated protein of mTORp150 target of rapamycin (TOR)-scaffold protein containing WD-repeatsraptor | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9HBR0 | Q8N122 | |
| Ensembl transtripts involved in fusion gene | ENST00000374759, ENST00000288439, ENST00000546352, | ENST00000537330, ENST00000570891, ENST00000306801, ENST00000544334, ENST00000575542, | |
| Fusion gene scores | * DoF score | 9 X 5 X 8=360 | 13 X 11 X 10=1430 |
| # samples | 11 | 14 | |
| ** MAII score | log2(11/360*10)=-1.71049338280502 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(14/1430*10)=-3.35251641472079 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SLC38A10 [Title/Abstract] AND RPTOR [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 | RPTOR | GO:0031929 | TOR signaling | 20381137 |
| Tgene | RPTOR | GO:0032008 | positive regulation of TOR signaling | 12150926|18439900 |
| Tgene | RPTOR | GO:0071233 | cellular response to leucine | 22424946 |
| Tgene | RPTOR | GO:0071902 | positive regulation of protein serine/threonine kinase activity | 12150926 |
| 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 | UCEC | TCGA-EY-A4KR-01A | SLC38A10 | chr17 | 79244718 | - | RPTOR | chr17 | 78796001 | + |
| * 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 | ENST00000374759 | ENST00000537330 | SLC38A10 | chr17 | 79244718 | - | RPTOR | chr17 | 78796001 | + |
| Frame-shift | ENST00000374759 | ENST00000570891 | SLC38A10 | chr17 | 79244718 | - | RPTOR | chr17 | 78796001 | + |
| Frame-shift | ENST00000374759 | ENST00000306801 | SLC38A10 | chr17 | 79244718 | - | RPTOR | chr17 | 78796001 | + |
| Frame-shift | ENST00000374759 | ENST00000544334 | SLC38A10 | chr17 | 79244718 | - | RPTOR | chr17 | 78796001 | + |
| 5CDS-3UTR | ENST00000374759 | ENST00000575542 | SLC38A10 | chr17 | 79244718 | - | RPTOR | chr17 | 78796001 | + |
| Frame-shift | ENST00000288439 | ENST00000537330 | SLC38A10 | chr17 | 79244718 | - | RPTOR | chr17 | 78796001 | + |
| Frame-shift | ENST00000288439 | ENST00000570891 | SLC38A10 | chr17 | 79244718 | - | RPTOR | chr17 | 78796001 | + |
| Frame-shift | ENST00000288439 | ENST00000306801 | SLC38A10 | chr17 | 79244718 | - | RPTOR | chr17 | 78796001 | + |
| Frame-shift | ENST00000288439 | ENST00000544334 | SLC38A10 | chr17 | 79244718 | - | RPTOR | chr17 | 78796001 | + |
| 5CDS-3UTR | ENST00000288439 | ENST00000575542 | SLC38A10 | chr17 | 79244718 | - | RPTOR | chr17 | 78796001 | + |
| 5UTR-3CDS | ENST00000546352 | ENST00000537330 | SLC38A10 | chr17 | 79244718 | - | RPTOR | chr17 | 78796001 | + |
| 5UTR-3CDS | ENST00000546352 | ENST00000570891 | SLC38A10 | chr17 | 79244718 | - | RPTOR | chr17 | 78796001 | + |
| 5UTR-3CDS | ENST00000546352 | ENST00000306801 | SLC38A10 | chr17 | 79244718 | - | RPTOR | chr17 | 78796001 | + |
| 5UTR-3CDS | ENST00000546352 | ENST00000544334 | SLC38A10 | chr17 | 79244718 | - | RPTOR | chr17 | 78796001 | + |
| 5UTR-3UTR | ENST00000546352 | ENST00000575542 | SLC38A10 | chr17 | 79244718 | - | RPTOR | chr17 | 78796001 | + |
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FusionProtFeatures for SLC38A10_RPTOR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SLC38A10 | RPTOR |
| Putative sodium-dependent amino acid/proton antiporter.{ECO:0000250}. | Involved in the control of the mammalian target ofrapamycin complex 1 (mTORC1) activity which regulates cell growthand survival, and autophagy in response to nutrient and hormonalsignals; functions as a scaffold for recruiting mTORC1 substrates.mTORC1 is activated in response to growth factors or amino acids.Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to theactivation of the RHEB GTPase that potently activates the proteinkinase activity of mTORC1. Amino acid-signaling to mTORC1 requiresits relocalization to the lysosomes mediated by the Ragulatorcomplex and the Rag GTPases. Activated mTORC1 up-regulates proteinsynthesis by phosphorylating key regulators of mRNA translationand ribosome synthesis. mTORC1 phosphorylates EIF4EBP1 andreleases it from inhibiting the elongation initiation factor 4E(eiF4E). mTORC1 phosphorylates and activates S6K1 at 'Thr-389',which then promotes protein synthesis by phosphorylating PDCD4 andtargeting it for degradation. Involved in ciliogenesis.{ECO:0000269|PubMed:12150925, ECO:0000269|PubMed:12150926,ECO:0000269|PubMed:23727834}. |
| 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 SLC38A10_RPTOR |
| 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 SLC38A10_RPTOR |
| 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 |
| SLC38A10 | HLA-DPA1, CD1B, NRG1, ERGIC3, NAAA, HTR3C, KIF5B, NCAPH, TOR1AIP2, EDEM2, SYP | RPTOR | MTOR, FKBP1A, EIF4EBP1, GDI2P1, PLD2, RPS6KB1, PDK1, RHEB, EIF3B, EIF3C, MLST8, RRAGA, RRAGC, RPS6, TIRAP, IQGAP1, USP9X, PRKAA1, PRKAA2, YWHAQ, SQSTM1, RRAGB, MAPK8, ICK, CCNB1, AKT1S1, DEPTOR, IRS1, EIF4E, MAPK3, MAPK1, HSPA4, ULK1, RICTOR, RPS6KA1, IRS2, RRAGD, HIF1A, CUL4A, CUL4B, DDB1, UCHL1, SIRT1, PREX1, LARS, RPTOR, AKT1, PDIA3, MARK4, AMBRA1, TRAF6, FKBP8, GNB1, GNG2, RAP1B, CHUK, IKBKB, IKBKG, SGK1, MOV10, NXF1, LAMTOR2, GTF3C1, TXNDC15, NT5E, BAG3, FAF2, HTR6, EIF4EBP2, SCAP, NTRK1, XPO1, RAB1A, PARK2, BRAT1, MTMR3, NFATC1, NFATC2, ZNRF2, INTU, IQCF1, CD79B, TPP1, CCT7, DKKL1, IL13RA2, PDCD1, TRIB2, PMEL, BRAF, NTRK3, CT55, CCDC6, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, LRFN1, CGN, DENND1A, SH3PXD2A, SRGAP2, RTKN, MAST3, DENND4C, EIF4E2, SIPA1L1, PPM1H, LIMA1, MAGI1, TESK2, DCLK1, ZNF638, LPIN3, CBY1, INPP5E, ESR1, TRIM25, BRCA1, EP300 |
| - 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 SLC38A10_RPTOR |
| 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 SLC38A10_RPTOR |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | RPTOR | C0040336 | Tobacco Use Disorder | 1 | CTD_human |
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