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Fusion gene ID: 34620 |
FusionGeneSummary for SLC7A6_GRXCR1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SLC7A6_GRXCR1 | Fusion gene ID: 34620 | Hgene | Tgene | Gene symbol | SLC7A6 | GRXCR1 | Gene ID | 9057 | 389207 |
| Gene name | solute carrier family 7 member 6 | glutaredoxin and cysteine rich domain containing 1 | |
| Synonyms | LAT-2|LAT3|y+LAT-2 | DFNB25|PPP1R88 | |
| Cytomap | 16q22.1 | 4p13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | Y+L amino acid transporter 2amino acid permeasecationic amino acid transporter, y+ systemsolute carrier family 7 (amino acid transporter light chain, y+L system), member 6solute carrier family 7 (cationic amino acid transporter, y+ system), member 6y | glutaredoxin domain-containing cysteine-rich protein 1glutaredoxin, cysteine rich 1protein phosphatase 1, regulatory subunit 88 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q92536 | A8MXD5 | |
| Ensembl transtripts involved in fusion gene | ENST00000219343, ENST00000566454, | ENST00000399770, | |
| Fusion gene scores | * DoF score | 5 X 2 X 4=40 | 1 X 1 X 1=1 |
| # samples | 5 | 1 | |
| ** MAII score | log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: SLC7A6 [Title/Abstract] AND GRXCR1 [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 | GRXCR1 | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
| 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 | LUAD | TCGA-38-4629-01A | SLC7A6 | chr16 | 68300624 | + | GRXCR1 | chr4 | 43022371 | + |
| * 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 | ENST00000219343 | ENST00000399770 | SLC7A6 | chr16 | 68300624 | + | GRXCR1 | chr4 | 43022371 | + |
| 5UTR-3CDS | ENST00000566454 | ENST00000399770 | SLC7A6 | chr16 | 68300624 | + | GRXCR1 | chr4 | 43022371 | + |
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FusionProtFeatures for SLC7A6_GRXCR1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SLC7A6 | GRXCR1 |
| Involved in the sodium-independent uptake of dibasicamino acids and sodium-dependent uptake of some neutral aminoacids. Requires coexpression with SLC3A2/4F2hc to mediate theuptake of arginine, leucine and glutamine. Also acts as anarginine/glutamine exchanger, following an antiport mechanism foramino acid transport, influencing arginine release in exchange forextracellular amino acids. Plays a role in nitric oxide synthesisin human umbilical vein endothelial cells (HUVECs) via transportof L-arginine. Involved in the transport of L-arginine inmonocytes. Reduces uptake of ornithine in retinal pigmentepithelial (RPE) cells. {ECO:0000269|PubMed:10903140,ECO:0000269|PubMed:11311135, ECO:0000269|PubMed:14603368,ECO:0000269|PubMed:15280038, ECO:0000269|PubMed:16785209,ECO:0000269|PubMed:17197568, ECO:0000269|PubMed:17329401,ECO:0000269|PubMed:9829974}. | May play a role in actin filament architecture indeveloping stereocilia of sensory cells. {ECO:0000250}. |
| 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 SLC7A6_GRXCR1 |
| 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 SLC7A6_GRXCR1 |
| 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 |
| SLC7A6 | MAS1, TRIM25 | GRXCR1 |
| - 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 SLC7A6_GRXCR1 |
| 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 SLC7A6_GRXCR1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | GRXCR1 | C1414017 | DEAFNESS, AUTOSOMAL RECESSIVE 25 | 2 | CTD_human;UNIPROT |
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