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Fusion gene ID: 24959 |
FusionGeneSummary for NSRP1_SLC6A13 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NSRP1_SLC6A13 | Fusion gene ID: 24959 | Hgene | Tgene | Gene symbol | NSRP1 | SLC6A13 | Gene ID | 84081 | 6540 |
| Gene name | nuclear speckle splicing regulatory protein 1 | solute carrier family 6 member 13 | |
| Synonyms | CCDC55|HSPC095|NSrp70 | GAT-2|GAT2|GAT3 | |
| Cytomap | 17q11.2 | 12p13.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nuclear speckle splicing regulatory protein 1coiled-coil domain containing 55coiled-coil domain-containing protein 55nuclear speckle-related protein 70 | sodium- and chloride-dependent GABA transporter 2GABA transport proteinGABA transporter 2solute carrier family 6 (neurotransmitter transporter), member 13solute carrier family 6 (neurotransmitter transporter, GABA), member 13 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q9H0G5 | Q9NSD5 | |
| Ensembl transtripts involved in fusion gene | ENST00000540900, ENST00000584423, ENST00000247026, ENST00000479218, | ENST00000445055, ENST00000343164, ENST00000539668, ENST00000436453, | |
| Fusion gene scores | * DoF score | 7 X 5 X 4=140 | 2 X 2 X 2=8 |
| # samples | 8 | 2 | |
| ** MAII score | log2(8/140*10)=-0.807354922057604 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: NSRP1 [Title/Abstract] AND SLC6A13 [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 | NSRP1 | GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | 21296756 |
| 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 | OV | TCGA-29-1711-01A | NSRP1 | chr17 | 28443881 | + | SLC6A13 | chr12 | 347176 | - |
| * 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-3CDS | ENST00000540900 | ENST00000445055 | NSRP1 | chr17 | 28443881 | + | SLC6A13 | chr12 | 347176 | - |
| 3UTR-3CDS | ENST00000540900 | ENST00000343164 | NSRP1 | chr17 | 28443881 | + | SLC6A13 | chr12 | 347176 | - |
| 3UTR-intron | ENST00000540900 | ENST00000539668 | NSRP1 | chr17 | 28443881 | + | SLC6A13 | chr12 | 347176 | - |
| 3UTR-intron | ENST00000540900 | ENST00000436453 | NSRP1 | chr17 | 28443881 | + | SLC6A13 | chr12 | 347176 | - |
| Frame-shift | ENST00000584423 | ENST00000445055 | NSRP1 | chr17 | 28443881 | + | SLC6A13 | chr12 | 347176 | - |
| Frame-shift | ENST00000584423 | ENST00000343164 | NSRP1 | chr17 | 28443881 | + | SLC6A13 | chr12 | 347176 | - |
| 5CDS-intron | ENST00000584423 | ENST00000539668 | NSRP1 | chr17 | 28443881 | + | SLC6A13 | chr12 | 347176 | - |
| 5CDS-intron | ENST00000584423 | ENST00000436453 | NSRP1 | chr17 | 28443881 | + | SLC6A13 | chr12 | 347176 | - |
| Frame-shift | ENST00000247026 | ENST00000445055 | NSRP1 | chr17 | 28443881 | + | SLC6A13 | chr12 | 347176 | - |
| Frame-shift | ENST00000247026 | ENST00000343164 | NSRP1 | chr17 | 28443881 | + | SLC6A13 | chr12 | 347176 | - |
| 5CDS-intron | ENST00000247026 | ENST00000539668 | NSRP1 | chr17 | 28443881 | + | SLC6A13 | chr12 | 347176 | - |
| 5CDS-intron | ENST00000247026 | ENST00000436453 | NSRP1 | chr17 | 28443881 | + | SLC6A13 | chr12 | 347176 | - |
| Frame-shift | ENST00000479218 | ENST00000445055 | NSRP1 | chr17 | 28443881 | + | SLC6A13 | chr12 | 347176 | - |
| Frame-shift | ENST00000479218 | ENST00000343164 | NSRP1 | chr17 | 28443881 | + | SLC6A13 | chr12 | 347176 | - |
| 5CDS-intron | ENST00000479218 | ENST00000539668 | NSRP1 | chr17 | 28443881 | + | SLC6A13 | chr12 | 347176 | - |
| 5CDS-intron | ENST00000479218 | ENST00000436453 | NSRP1 | chr17 | 28443881 | + | SLC6A13 | chr12 | 347176 | - |
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FusionProtFeatures for NSRP1_SLC6A13 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NSRP1 | SLC6A13 |
| RNA-binding protein that mediates pre-mRNA alternativesplicing regulation. {ECO:0000269|PubMed:21296756}. | Sodium-dependent GABA and taurine transporter. Inpresynaptic terminals, regulates GABA signaling terminationthrough GABA uptake. May also be involved in beta-alaninetransport. {ECO:0000269|PubMed:17502375,ECO:0000269|PubMed:22932902}. |
| 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 NSRP1_SLC6A13 |
| 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 NSRP1_SLC6A13 |
| 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 |
| NSRP1 | NEDD4L, NEDD4, JMJD6, APP, BARD1, CTNNBL1, FBXO25, CDK18, SRPK2, SRPK1, CIAO1, HIST1H3E, MYO1C, XRCC3, EMC2, CHORDC1, MMGT1 | SLC6A13 | ATXN1 |
| - 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 NSRP1_SLC6A13 |
| 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 NSRP1_SLC6A13 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SLC6A13 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | SLC6A13 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | SLC6A13 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | SLC6A13 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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