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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 34613

FusionGeneSummary for SLC7A2_TERT

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC7A2_TERT
Fusion gene ID: 34613
HgeneTgene
Gene symbol

SLC7A2

TERT

Gene ID

6542

7015

Gene namesolute carrier family 7 member 2telomerase reverse transcriptase
SynonymsATRC2|CAT2|HCAT2CMM9|DKCA2|DKCB4|EST2|PFBMFT1|TCS1|TP2|TRT|hEST2|hTRT
Cytomap

8p22

5p15.33

Type of geneprotein-codingprotein-coding
Descriptioncationic amino acid transporter 2low affinity cationic amino acid transporter 2solute carrier family 7 (cationic amino acid transporter, y+ system), member 2telomerase reverse transcriptasetelomerase catalytic subunittelomerase-associated protein 2
Modification date2018052320180527
UniProtAcc

P52569

O14746

Ensembl transtripts involved in fusion geneENST00000494857, ENST00000522656, 
ENST00000470360, ENST00000004531, 
ENST00000398090, 
ENST00000310581, 
ENST00000296820, ENST00000334602, 
ENST00000508104, ENST00000522877, 
Fusion gene scores* DoF score5 X 4 X 3=6019 X 3 X 14=798
# samples 526
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneTERT

GO:0001172

transcription, RNA-templated

19701182

TgeneTERT

GO:0006278

RNA-dependent DNA biosynthetic process

9398860

TgeneTERT

GO:0007004

telomere maintenance via telomerase

9443919|16043710|17940095|19701182|21531765

TgeneTERT

GO:0007005

mitochondrion organization

21937513

TgeneTERT

GO:0010629

negative regulation of gene expression

11927518

TgeneTERT

GO:0022616

DNA strand elongation

16043710

TgeneTERT

GO:0030422

production of siRNA involved in RNA interference

19701182

TgeneTERT

GO:0031647

regulation of protein stability

24415760|26194824

TgeneTERT

GO:0032092

positive regulation of protein binding

24415760

TgeneTERT

GO:0032774

RNA biosynthetic process

19701182

TgeneTERT

GO:0051000

positive regulation of nitric-oxide synthase activity

11927518

TgeneTERT

GO:0070200

establishment of protein localization to telomere

25589350

TgeneTERT

GO:0071897

DNA biosynthetic process

9398860|19701182

TgeneTERT

GO:1903704

negative regulation of production of siRNA involved in RNA interference

19701182

TgeneTERT

GO:1904751

positive regulation of protein localization to nucleolus

24415760

TgeneTERT

GO:2000773

negative regulation of cellular senescence

11927518


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLIHCTCGA-DD-A73C-01ASLC7A2chr8

17359811

+TERTchr5

1282739

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-3CDSENST00000494857ENST00000310581SLC7A2chr8

17359811

+TERTchr5

1282739

-
5UTR-3CDSENST00000494857ENST00000296820SLC7A2chr8

17359811

+TERTchr5

1282739

-
5UTR-3CDSENST00000494857ENST00000334602SLC7A2chr8

17359811

+TERTchr5

1282739

-
5UTR-3CDSENST00000494857ENST00000508104SLC7A2chr8

17359811

+TERTchr5

1282739

-
5UTR-intronENST00000494857ENST00000522877SLC7A2chr8

17359811

+TERTchr5

1282739

-
intron-3CDSENST00000522656ENST00000310581SLC7A2chr8

17359811

+TERTchr5

1282739

-
intron-3CDSENST00000522656ENST00000296820SLC7A2chr8

17359811

+TERTchr5

1282739

-
intron-3CDSENST00000522656ENST00000334602SLC7A2chr8

17359811

+TERTchr5

1282739

-
intron-3CDSENST00000522656ENST00000508104SLC7A2chr8

17359811

+TERTchr5

1282739

-
intron-intronENST00000522656ENST00000522877SLC7A2chr8

17359811

+TERTchr5

1282739

-
5UTR-3CDSENST00000470360ENST00000310581SLC7A2chr8

17359811

+TERTchr5

1282739

-
5UTR-3CDSENST00000470360ENST00000296820SLC7A2chr8

17359811

+TERTchr5

1282739

-
5UTR-3CDSENST00000470360ENST00000334602SLC7A2chr8

17359811

+TERTchr5

1282739

-
5UTR-3CDSENST00000470360ENST00000508104SLC7A2chr8

17359811

+TERTchr5

1282739

-
5UTR-intronENST00000470360ENST00000522877SLC7A2chr8

17359811

+TERTchr5

1282739

-
intron-3CDSENST00000004531ENST00000310581SLC7A2chr8

17359811

+TERTchr5

1282739

-
intron-3CDSENST00000004531ENST00000296820SLC7A2chr8

17359811

+TERTchr5

1282739

-
intron-3CDSENST00000004531ENST00000334602SLC7A2chr8

17359811

+TERTchr5

1282739

-
intron-3CDSENST00000004531ENST00000508104SLC7A2chr8

17359811

+TERTchr5

1282739

-
intron-intronENST00000004531ENST00000522877SLC7A2chr8

17359811

+TERTchr5

1282739

-
intron-3CDSENST00000398090ENST00000310581SLC7A2chr8

17359811

+TERTchr5

1282739

-
intron-3CDSENST00000398090ENST00000296820SLC7A2chr8

17359811

+TERTchr5

1282739

-
intron-3CDSENST00000398090ENST00000334602SLC7A2chr8

17359811

+TERTchr5

1282739

-
intron-3CDSENST00000398090ENST00000508104SLC7A2chr8

17359811

+TERTchr5

1282739

-
intron-intronENST00000398090ENST00000522877SLC7A2chr8

17359811

+TERTchr5

1282739

-

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FusionProtFeatures for SLC7A2_TERT


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC7A2

P52569

TERT

O14746

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for SLC7A2_TERT


check button 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 SLC7A2_TERT


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
SLC7A2LGALS3, TSPAN5, TMEM171, GABRE, NT5E, VSIG4, CYP2C18, VAPB, TP53, TMEM17, CD83, ATP6V0E1, FPR2, DLK2, TMPRSS11B, UPK1A, YIPF3, PTGIR, ZFYVE27, VIPR1, C5AR2, C3AR1, MFSD4TERTNCL, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for SLC7A2_TERT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneSLC7A2P52569DB00123L-LysineCationic amino acid transporter 2small moleculeapproved|nutraceutical
TgeneTERTO14746DB00495ZidovudineTelomerase reverse transcriptasesmall moleculeapproved

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RelatedDiseases for SLC7A2_TERT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTERTC3553617PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 19UNIPROT
TgeneTERTC3151443DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 26UNIPROT
TgeneTERTC0002874Aplastic Anemia4CTD_human;HPO;UNIPROT
TgeneTERTC1800706Idiopathic Pulmonary Fibrosis4CTD_human;ORPHANET
TgeneTERTC2239176Liver carcinoma4CTD_human
TgeneTERTC0265965Dyskeratosis Congenita3CTD_human;ORPHANET
TgeneTERTC0017638Glioma2CTD_human
TgeneTERTC0024121Lung Neoplasms2CTD_human
TgeneTERTC0030297Pancreatic Neoplasm2CTD_human
TgeneTERTC0033578Prostatic Neoplasms2CTD_human
TgeneTERTC0005695Bladder Neoplasm1CTD_human
TgeneTERTC0007117Basal cell carcinoma1CTD_human
TgeneTERTC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneTERTC0007873Uterine Cervical Neoplasm1CTD_human
TgeneTERTC0010314Cri-du-Chat Syndrome1CTD_human
TgeneTERTC0022658Kidney Diseases1CTD_human
TgeneTERTC0023448Lymphoid leukemia1CTD_human
TgeneTERTC0023473Myeloid Leukemia, Chronic1CTD_human
TgeneTERTC0023903Liver neoplasms1CTD_human
TgeneTERTC0024141Lupus Erythematosus, Systemic1CTD_human
TgeneTERTC0025202melanoma1CTD_human;HPO
TgeneTERTC0027819Neuroblastoma1CTD_human
TgeneTERTC0035126Reperfusion Injury1CTD_human
TgeneTERTC0040136Thyroid Neoplasm1CTD_human
TgeneTERTC0041696Unipolar Depression1PSYGENET
TgeneTERTC0206686Adrenocortical carcinoma1CTD_human
TgeneTERTC0919267ovarian neoplasm1CTD_human
TgeneTERTC1269683Major Depressive Disorder1PSYGENET
TgeneTERTC1458155Mammary Neoplasms1CTD_human
TgeneTERTC1846142HOYERAAL-HREIDARSSON SYNDROME1CTD_human;ORPHANET
TgeneTERTC1956346Coronary Artery Disease1CTD_human