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Fusion gene ID: 33168 |
FusionGeneSummary for SEMA5A_SLC6A19 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SEMA5A_SLC6A19 | Fusion gene ID: 33168 | Hgene | Tgene | Gene symbol | SEMA5A | SLC6A19 | Gene ID | 9037 | 340024 |
| Gene name | semaphorin 5A | solute carrier family 6 member 19 | |
| Synonyms | SEMAF|semF | B0AT1|HND | |
| Cytomap | 5p15.31 | 5p15.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | semaphorin-5Asema Fsema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5Asemaphorin F | sodium-dependent neutral amino acid transporter B(0)AT1sodium-dependent amino acid transporter system B0solute carrier family 6 (neurotransmitter transporter), member 19solute carrier family 6 (neutral amino acid transporter), member 19system B(0) neu | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q13591 | Q695T7 | |
| Ensembl transtripts involved in fusion gene | ENST00000382496, | ENST00000304460, | |
| Fusion gene scores | * DoF score | 8 X 6 X 4=192 | 5 X 3 X 5=75 |
| # samples | 8 | 5 | |
| ** MAII score | log2(8/192*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SEMA5A [Title/Abstract] AND SLC6A19 [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 |
| 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 | SARC | TCGA-FX-A2QS-01A | SEMA5A | chr5 | 9066533 | - | SLC6A19 | chr5 | 1208861 | + |
| * 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 | ENST00000382496 | ENST00000304460 | SEMA5A | chr5 | 9066533 | - | SLC6A19 | chr5 | 1208861 | + |
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FusionProtFeatures for SEMA5A_SLC6A19 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SEMA5A | SLC6A19 |
| Bifunctional axonal guidance cue regulated by sulfatedproteoglycans; attractive effects result from interactions withheparan sulfate proteoglycans (HSPGs), while the inhibitoryeffects depend on interactions with chondroitin sulfateproteoglycans (CSPGs) (By similarity). Ligand for receptor PLXNB3.In glioma cells, SEMA5A stimulation of PLXNB3 results in thedisassembly of F-actin stress fibers, disruption of focaladhesions and cellular collapse as well as inhibition of cellmigration and invasion through ARHGDIA-mediated inactivation ofRAC1. May promote angiogenesis by increasing endothelial cellproliferation and migration and inhibiting apoptosis.{ECO:0000250, ECO:0000269|PubMed:15218527,ECO:0000269|PubMed:19850054, ECO:0000269|PubMed:20696765,ECO:0000269|PubMed:21706053}. | Transporter that mediates resorption of neutral aminoacids across the apical membrane of renal and intestinalepithelial cells. This uptake is sodium-dependent and chloride-independent. {ECO:0000269|PubMed:15286788}. |
| 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 SEMA5A_SLC6A19 |
| 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 SEMA5A_SLC6A19 |
| 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 |
| SEMA5A | SLC6A19 |
| - 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 SEMA5A_SLC6A19 |
| 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 SEMA5A_SLC6A19 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SEMA5A | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Hgene | SEMA5A | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | SLC6A19 | C0018609 | Hartnup Disease | 2 | CTD_human;ORPHANET;UNIPROT |
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