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Fusion gene ID: 34613 |
FusionGeneSummary for SLC7A2_TERT |
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Fusion gene information | Fusion gene name: SLC7A2_TERT | Fusion gene ID: 34613 | Hgene | Tgene | Gene symbol | SLC7A2 | TERT | Gene ID | 6542 | 7015 |
Gene name | solute carrier family 7 member 2 | telomerase reverse transcriptase | |
Synonyms | ATRC2|CAT2|HCAT2 | CMM9|DKCA2|DKCB4|EST2|PFBMFT1|TCS1|TP2|TRT|hEST2|hTRT | |
Cytomap | 8p22 | 5p15.33 | |
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 | telomerase reverse transcriptasetelomerase catalytic subunittelomerase-associated protein 2 | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | P52569 | O14746 | |
Ensembl transtripts involved in fusion gene | ENST00000494857, ENST00000522656, ENST00000470360, ENST00000004531, ENST00000398090, | ENST00000310581, ENST00000296820, ENST00000334602, ENST00000508104, ENST00000522877, | |
Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 19 X 3 X 14=798 |
# samples | 5 | 26 | |
** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(26/798*10)=-1.61787712319389 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SLC7A2 [Title/Abstract] AND TERT [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 |
Tgene | TERT | GO:0001172 | transcription, RNA-templated | 19701182 |
Tgene | TERT | GO:0006278 | RNA-dependent DNA biosynthetic process | 9398860 |
Tgene | TERT | GO:0007004 | telomere maintenance via telomerase | 9443919|16043710|17940095|19701182|21531765 |
Tgene | TERT | GO:0007005 | mitochondrion organization | 21937513 |
Tgene | TERT | GO:0010629 | negative regulation of gene expression | 11927518 |
Tgene | TERT | GO:0022616 | DNA strand elongation | 16043710 |
Tgene | TERT | GO:0030422 | production of siRNA involved in RNA interference | 19701182 |
Tgene | TERT | GO:0031647 | regulation of protein stability | 24415760|26194824 |
Tgene | TERT | GO:0032092 | positive regulation of protein binding | 24415760 |
Tgene | TERT | GO:0032774 | RNA biosynthetic process | 19701182 |
Tgene | TERT | GO:0051000 | positive regulation of nitric-oxide synthase activity | 11927518 |
Tgene | TERT | GO:0070200 | establishment of protein localization to telomere | 25589350 |
Tgene | TERT | GO:0071897 | DNA biosynthetic process | 9398860|19701182 |
Tgene | TERT | GO:1903704 | negative regulation of production of siRNA involved in RNA interference | 19701182 |
Tgene | TERT | GO:1904751 | positive regulation of protein localization to nucleolus | 24415760 |
Tgene | TERT | GO:2000773 | negative regulation of cellular senescence | 11927518 |
![]() (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 | LIHC | TCGA-DD-A73C-01A | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
* 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 | ENST00000310581 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
5UTR-3CDS | ENST00000494857 | ENST00000296820 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
5UTR-3CDS | ENST00000494857 | ENST00000334602 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
5UTR-3CDS | ENST00000494857 | ENST00000508104 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
5UTR-intron | ENST00000494857 | ENST00000522877 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
intron-3CDS | ENST00000522656 | ENST00000310581 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
intron-3CDS | ENST00000522656 | ENST00000296820 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
intron-3CDS | ENST00000522656 | ENST00000334602 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
intron-3CDS | ENST00000522656 | ENST00000508104 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
intron-intron | ENST00000522656 | ENST00000522877 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
5UTR-3CDS | ENST00000470360 | ENST00000310581 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
5UTR-3CDS | ENST00000470360 | ENST00000296820 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
5UTR-3CDS | ENST00000470360 | ENST00000334602 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
5UTR-3CDS | ENST00000470360 | ENST00000508104 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
5UTR-intron | ENST00000470360 | ENST00000522877 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
intron-3CDS | ENST00000004531 | ENST00000310581 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
intron-3CDS | ENST00000004531 | ENST00000296820 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
intron-3CDS | ENST00000004531 | ENST00000334602 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
intron-3CDS | ENST00000004531 | ENST00000508104 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
intron-intron | ENST00000004531 | ENST00000522877 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
intron-3CDS | ENST00000398090 | ENST00000310581 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
intron-3CDS | ENST00000398090 | ENST00000296820 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
intron-3CDS | ENST00000398090 | ENST00000334602 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
intron-3CDS | ENST00000398090 | ENST00000508104 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
intron-intron | ENST00000398090 | ENST00000522877 | SLC7A2 | chr8 | 17359811 | + | TERT | chr5 | 1282739 | - |
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FusionProtFeatures for SLC7A2_TERT |
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Hgene | Tgene |
SLC7A2 | TERT |
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}. | Telomerase is a ribonucleoprotein enzyme essential forthe replication of chromosome termini in most eukaryotes. Activein progenitor and cancer cells. Inactive, or very low activity, innormal somatic cells. Catalytic component of the teleromeraseholoenzyme complex whose main activity is the elongation oftelomeres by acting as a reverse transcriptase that adds simplesequence repeats to chromosome ends by copying a template sequencewithin the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini with the 6-nucleotide telomeric repeat unit, 5'-TTAGGG-3'. The catalyticcycle involves primer binding, primer extension and release ofproduct once the template boundary has been reached or nascentproduct translocation followed by further extension. More activeon substrates containing 2 or 3 telomeric repeats. Telomeraseactivity is regulated by a number of factors including telomerasecomplex-associated proteins, chaperones and polypeptide modifiers.Modulates Wnt signaling. Plays important roles in aging andantiapoptosis. {ECO:0000269|PubMed:14963003,ECO:0000269|PubMed:15082768, ECO:0000269|PubMed:15857955,ECO:0000269|PubMed:17026956, ECO:0000269|PubMed:17264120,ECO:0000269|PubMed:17296728, ECO:0000269|PubMed:17548608,ECO:0000269|PubMed:19188162, ECO:0000269|PubMed:19567472,ECO:0000269|PubMed:19571879, ECO:0000269|PubMed:19777057,ECO:0000269|PubMed:9389643}. |
![]() * 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_TERT |
![]() (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_TERT |
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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 | TERT | NCL, MCRS1, SMG6, SMG5, HSP90AA1, XRCC5, XRCC6, TEP1, RELA, AKT1, MTOR, RPS6KB1, PINX1, YWHAZ, YWHAQ, MUS81, PML, MKRN1, NAT10, MDM2, GNL3L, TERF1, PTGES3, POT1, CIB1, STUB1, HSPA1A, DYRK2, UBR5, DDB1, VPRBP, RUVBL1, RUVBL2, TERC, DKC1, SLC7A11, UBE2D3, U2SURP, IREB2, TGFBR2, GLA, SERBP1, DYNLL1, PHF20L1, ATP5B, C19orf40, PFDN1, CCT5, EIF2S1, TIMM21, TUBA1B, PABPC1, ANXA2, DDX51, PBK, STEAP4, ACAA2, ENO1, PPIA, HSPA4, TPP1, TP53, ETV1, ATR, FOXO3, DAXX |
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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_TERT |
![]() (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 |
Tgene | TERT | O14746 | DB00495 | Zidovudine | Telomerase reverse transcriptase | small molecule | approved |
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RelatedDiseases for SLC7A2_TERT |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | TERT | C3553617 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 | 9 | UNIPROT |
Tgene | TERT | C3151443 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 | 6 | UNIPROT |
Tgene | TERT | C0002874 | Aplastic Anemia | 4 | CTD_human;HPO;UNIPROT |
Tgene | TERT | C1800706 | Idiopathic Pulmonary Fibrosis | 4 | CTD_human;ORPHANET |
Tgene | TERT | C2239176 | Liver carcinoma | 4 | CTD_human |
Tgene | TERT | C0265965 | Dyskeratosis Congenita | 3 | CTD_human;ORPHANET |
Tgene | TERT | C0017638 | Glioma | 2 | CTD_human |
Tgene | TERT | C0024121 | Lung Neoplasms | 2 | CTD_human |
Tgene | TERT | C0030297 | Pancreatic Neoplasm | 2 | CTD_human |
Tgene | TERT | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
Tgene | TERT | C0005695 | Bladder Neoplasm | 1 | CTD_human |
Tgene | TERT | C0007117 | Basal cell carcinoma | 1 | CTD_human |
Tgene | TERT | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
Tgene | TERT | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
Tgene | TERT | C0010314 | Cri-du-Chat Syndrome | 1 | CTD_human |
Tgene | TERT | C0022658 | Kidney Diseases | 1 | CTD_human |
Tgene | TERT | C0023448 | Lymphoid leukemia | 1 | CTD_human |
Tgene | TERT | C0023473 | Myeloid Leukemia, Chronic | 1 | CTD_human |
Tgene | TERT | C0023903 | Liver neoplasms | 1 | CTD_human |
Tgene | TERT | C0024141 | Lupus Erythematosus, Systemic | 1 | CTD_human |
Tgene | TERT | C0025202 | melanoma | 1 | CTD_human;HPO |
Tgene | TERT | C0027819 | Neuroblastoma | 1 | CTD_human |
Tgene | TERT | C0035126 | Reperfusion Injury | 1 | CTD_human |
Tgene | TERT | C0040136 | Thyroid Neoplasm | 1 | CTD_human |
Tgene | TERT | C0041696 | Unipolar Depression | 1 | PSYGENET |
Tgene | TERT | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
Tgene | TERT | C0919267 | ovarian neoplasm | 1 | CTD_human |
Tgene | TERT | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Tgene | TERT | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | TERT | C1846142 | HOYERAAL-HREIDARSSON SYNDROME | 1 | CTD_human;ORPHANET |
Tgene | TERT | C1956346 | Coronary Artery Disease | 1 | CTD_human |