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Fusion gene ID: 34610 |
FusionGeneSummary for SLC7A2_DHTKD1 |
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Fusion gene information | Fusion gene name: SLC7A2_DHTKD1 | Fusion gene ID: 34610 | Hgene | Tgene | Gene symbol | SLC7A2 | DHTKD1 | Gene ID | 6542 | 55526 |
Gene name | solute carrier family 7 member 2 | dehydrogenase E1 and transketolase domain containing 1 | |
Synonyms | ATRC2|CAT2|HCAT2 | AMOXAD|CMT2Q | |
Cytomap | 8p22 | 10p14 | |
Type of gene | protein-coding | protein-coding | |
Description | cationic amino acid transporter 2low affinity cationic amino acid transporter 2solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 | probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrialdehydrogenase E1 and transketolase domain-containing protein 1 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P52569 | Q96HY7 | |
Ensembl transtripts involved in fusion gene | ENST00000494857, ENST00000522656, ENST00000470360, ENST00000004531, ENST00000398090, | ENST00000263035, ENST00000465617, | |
Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 4 X 4 X 2=32 |
# samples | 5 | 4 | |
** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: SLC7A2 [Title/Abstract] AND DHTKD1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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-24-1474-01A | SLC7A2 | chr8 | 17359811 | + | DHTKD1 | chr10 | 12154899 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000494857 | ENST00000263035 | SLC7A2 | chr8 | 17359811 | + | DHTKD1 | chr10 | 12154899 | + |
5UTR-intron | ENST00000494857 | ENST00000465617 | SLC7A2 | chr8 | 17359811 | + | DHTKD1 | chr10 | 12154899 | + |
intron-3CDS | ENST00000522656 | ENST00000263035 | SLC7A2 | chr8 | 17359811 | + | DHTKD1 | chr10 | 12154899 | + |
intron-intron | ENST00000522656 | ENST00000465617 | SLC7A2 | chr8 | 17359811 | + | DHTKD1 | chr10 | 12154899 | + |
5UTR-3CDS | ENST00000470360 | ENST00000263035 | SLC7A2 | chr8 | 17359811 | + | DHTKD1 | chr10 | 12154899 | + |
5UTR-intron | ENST00000470360 | ENST00000465617 | SLC7A2 | chr8 | 17359811 | + | DHTKD1 | chr10 | 12154899 | + |
intron-3CDS | ENST00000004531 | ENST00000263035 | SLC7A2 | chr8 | 17359811 | + | DHTKD1 | chr10 | 12154899 | + |
intron-intron | ENST00000004531 | ENST00000465617 | SLC7A2 | chr8 | 17359811 | + | DHTKD1 | chr10 | 12154899 | + |
intron-3CDS | ENST00000398090 | ENST00000263035 | SLC7A2 | chr8 | 17359811 | + | DHTKD1 | chr10 | 12154899 | + |
intron-intron | ENST00000398090 | ENST00000465617 | SLC7A2 | chr8 | 17359811 | + | DHTKD1 | chr10 | 12154899 | + |
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FusionProtFeatures for SLC7A2_DHTKD1 |
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Hgene | Tgene |
SLC7A2 | DHTKD1 |
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}. | The 2-oxoglutarate dehydrogenase complex catalyzes theoverall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Itcontains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamidesuccinyltransferase (E2) and lipoamide dehydrogenase (E3) (Bysimilarity). {ECO:0000250}. |
![]() * 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 SLC7A2_DHTKD1 |
![]() (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 SLC7A2_DHTKD1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SLC7A2 | LGALS3, TSPAN5, TMEM171, GABRE, NT5E, VSIG4, CYP2C18, VAPB, TP53, TMEM17, CD83, ATP6V0E1, FPR2, DLK2, TMPRSS11B, UPK1A, YIPF3, PTGIR, ZFYVE27, VIPR1, C5AR2, C3AR1, MFSD4 | DHTKD1 | FAHD1, DLD, PGLYRP3, RIMKLA, NTRK1, CEP170P1, ARNTL2, DENR, MORN5, ICAM1, YBEY, GATC |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SLC7A2_DHTKD1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | SLC7A2 | P52569 | DB00123 | L-Lysine | Cationic amino acid transporter 2 | small molecule | approved|nutraceutical |
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RelatedDiseases for SLC7A2_DHTKD1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | DHTKD1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | DHTKD1 | C1859817 | 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA | 1 | ORPHANET;UNIPROT |