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Fusion gene ID: 7506 |
FusionGeneSummary for CLSTN1_SLC7A2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CLSTN1_SLC7A2 | Fusion gene ID: 7506 | Hgene | Tgene | Gene symbol | CLSTN1 | SLC7A2 | Gene ID | 22883 | 6542 |
| Gene name | calsyntenin 1 | solute carrier family 7 member 2 | |
| Synonyms | ALC-ALPHA|CDHR12|CST-1|CSTN1|PIK3CD|XB31alpha|alcalpha1|alcalpha2 | ATRC2|CAT2|HCAT2 | |
| Cytomap | 1p36.22 | 8p22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | calsyntenin-1alcadein-alphaalzheimer-related cadherin-like proteincadherin-related family member 12non-classical cadherin XB31alpha | cationic amino acid transporter 2low affinity cationic amino acid transporter 2solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O94985 | P52569 | |
| Ensembl transtripts involved in fusion gene | ENST00000377298, ENST00000361311, ENST00000377288, ENST00000477264, | ENST00000494857, ENST00000522656, ENST00000470360, ENST00000004531, ENST00000398090, | |
| Fusion gene scores | * DoF score | 11 X 10 X 5=550 | 2 X 2 X 1=4 |
| # samples | 15 | 2 | |
| ** MAII score | log2(15/550*10)=-1.87446911791614 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: CLSTN1 [Title/Abstract] AND SLC7A2 [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 |
| ChiTaRS3.1 | BP395070 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| * 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 |
| intron-3UTR | ENST00000377298 | ENST00000494857 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-intron | ENST00000377298 | ENST00000522656 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-3UTR | ENST00000377298 | ENST00000470360 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-3UTR | ENST00000377298 | ENST00000004531 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-3UTR | ENST00000377298 | ENST00000398090 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-3UTR | ENST00000361311 | ENST00000494857 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-intron | ENST00000361311 | ENST00000522656 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-3UTR | ENST00000361311 | ENST00000470360 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-3UTR | ENST00000361311 | ENST00000004531 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-3UTR | ENST00000361311 | ENST00000398090 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-3UTR | ENST00000377288 | ENST00000494857 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-intron | ENST00000377288 | ENST00000522656 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-3UTR | ENST00000377288 | ENST00000470360 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-3UTR | ENST00000377288 | ENST00000004531 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-3UTR | ENST00000377288 | ENST00000398090 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-3UTR | ENST00000477264 | ENST00000494857 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-intron | ENST00000477264 | ENST00000522656 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-3UTR | ENST00000477264 | ENST00000470360 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-3UTR | ENST00000477264 | ENST00000004531 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
| intron-3UTR | ENST00000477264 | ENST00000398090 | CLSTN1 | chr1 | 9789921 | + | SLC7A2 | chr8 | 17427501 | + |
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FusionProtFeatures for CLSTN1_SLC7A2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CLSTN1 | SLC7A2 |
| Induces KLC1 association with vesicles and functions asa cargo in axonal anterograde transport. Complex formation withAPBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to theretardation of intracellular APP maturation. In complex with APBA2and C99, a C-terminal APP fragment, abolishes C99 interaction withPSEN1 and thus APP C99 cleavage by gamma-secretase, most probablythrough stabilization of the direct interaction between APBA2 andAPP. The intracellular fragment AlcICD suppresses APBB1-dependenttransactivation stimulated by APP C-terminal intracellularfragment (AICD), most probably by competing with AICD for APBB1-binding. May modulate calcium-mediated postsynaptic signals (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:12972431}. | Functions as permease involved in the transport of thecationic amino acids (arginine, lysine and ornithine); theaffinity for its substrates differs between isoforms created byalternative splicing. Isoform 1 functions as permease thatmediates the transport of the cationic amino acids (arginine,lysine and ornithine), and it has much higher affinity forarginine than isoform 2. Isoform 2 functions as low-affinity, highcapacity permease involved in the transport of the cationic aminoacids (arginine, lysine and ornithine) (PubMed:9174363). May playa role in classical or alternative activation of macrophages viaits role in arginine transport. {ECO:0000250|UniProtKB:P18581,ECO:0000269|PubMed:9174363}. |
| 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 CLSTN1_SLC7A2 |
| 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 CLSTN1_SLC7A2 |
| 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 |
| - 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 CLSTN1_SLC7A2 |
| 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 |
| Tgene | SLC7A2 | P52569 | DB00123 | L-Lysine | Cationic amino acid transporter 2 | small molecule | approved|nutraceutical |
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RelatedDiseases for CLSTN1_SLC7A2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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