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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: 34117

FusionGeneSummary for SLC1A3_TIMP2

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC1A3_TIMP2
Fusion gene ID: 34117
HgeneTgene
Gene symbol

SLC1A3

TIMP2

Gene ID

6507

7077

Gene namesolute carrier family 1 member 3TIMP metallopeptidase inhibitor 2
SynonymsEA6|EAAT1|GLAST|GLAST1CSC-21K|DDC8
Cytomap

5p13.2

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionexcitatory amino acid transporter 1GLAST-1sodium-dependent glutamate/aspartate transporter 1solute carrier family 1 (glial high affinity glutamate transporter), member 3metalloproteinase inhibitor 2testicular secretory protein Li 57tissue inhibitor of metalloproteinases 2
Modification date2018051920180523
UniProtAcc

P43003

P16035

Ensembl transtripts involved in fusion geneENST00000265113, ENST00000506725, 
ENST00000381918, 
ENST00000585421, 
ENST00000536189, ENST00000262768, 
ENST00000586057, 
Fusion gene scores* DoF score11 X 9 X 6=5948 X 13 X 3=312
# samples 1213
** MAII scorelog2(12/594*10)=-2.30742852519225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/312*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SLC1A3 [Title/Abstract] AND TIMP2 [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
HgeneSLC1A3

GO:0015813

L-glutamate transmembrane transport

26690923

HgeneSLC1A3

GO:0051938

L-glutamate import

7521911

HgeneSLC1A3

GO:0070779

D-aspartate import across plasma membrane

7521911

HgeneSLC1A3

GO:0071805

potassium ion transmembrane transport

20477940

HgeneSLC1A3

GO:0098712

L-glutamate import across plasma membrane

26690923

HgeneSLC1A3

GO:0140009

L-aspartate import across plasma membrane

20477940

HgeneSLC1A3

GO:1902476

chloride transmembrane transport

20477940

TgeneTIMP2

GO:1905049

negative regulation of metallopeptidase activity

9573338


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
ChiTaRS3.1AI086141SLC1A3chr5

36688138

-TIMP2chr17

76850786

+
* 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
3UTR-3UTRENST00000265113ENST00000585421SLC1A3chr5

36688138

-TIMP2chr17

76850786

+
3UTR-3UTRENST00000265113ENST00000536189SLC1A3chr5

36688138

-TIMP2chr17

76850786

+
3UTR-3UTRENST00000265113ENST00000262768SLC1A3chr5

36688138

-TIMP2chr17

76850786

+
3UTR-3UTRENST00000265113ENST00000586057SLC1A3chr5

36688138

-TIMP2chr17

76850786

+
intron-3UTRENST00000506725ENST00000585421SLC1A3chr5

36688138

-TIMP2chr17

76850786

+
intron-3UTRENST00000506725ENST00000536189SLC1A3chr5

36688138

-TIMP2chr17

76850786

+
intron-3UTRENST00000506725ENST00000262768SLC1A3chr5

36688138

-TIMP2chr17

76850786

+
intron-3UTRENST00000506725ENST00000586057SLC1A3chr5

36688138

-TIMP2chr17

76850786

+
3UTR-3UTRENST00000381918ENST00000585421SLC1A3chr5

36688138

-TIMP2chr17

76850786

+
3UTR-3UTRENST00000381918ENST00000536189SLC1A3chr5

36688138

-TIMP2chr17

76850786

+
3UTR-3UTRENST00000381918ENST00000262768SLC1A3chr5

36688138

-TIMP2chr17

76850786

+
3UTR-3UTRENST00000381918ENST00000586057SLC1A3chr5

36688138

-TIMP2chr17

76850786

+

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FusionProtFeatures for SLC1A3_TIMP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC1A3

P43003

TIMP2

P16035

Sodium-dependent, high-affinity amino acid transporterthat mediates the uptake of L-glutamate and also L-aspartate andD-aspartate (PubMed:7521911, PubMed:8123008, PubMed:20477940,PubMed:26690923, PubMed:28032905, PubMed:28424515). Functions as asymporter that transports one amino acid molecule together withtwo or three Na(+) ions and one proton, in parallel with thecounter-transport of one K(+) ion (PubMed:20477940). MediatesCl(-) flux that is not coupled to amino acid transport; thisavoids the accumulation of negative charges due to aspartate andNa(+) symport (PubMed:20477940). Plays a redundant role in therapid removal of released glutamate from the synaptic cleft, whichis essential for terminating the postsynaptic action of glutamate(By similarity). {ECO:0000250|UniProtKB:P56564,ECO:0000269|PubMed:20477940, ECO:0000269|PubMed:26690923,ECO:0000269|PubMed:28032905, ECO:0000269|PubMed:28424515,ECO:0000269|PubMed:7521911, ECO:0000269|PubMed:8123008}. Complexes with metalloproteinases (such as collagenases)and irreversibly inactivates them by binding to their catalyticzinc cofactor. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-8,MMP-9, MMP-10, MMP-13, MMP-14, MMP-15, MMP-16 and MMP-19.{ECO:0000269|PubMed:11710594, ECO:0000269|PubMed:2554304,ECO:0000269|PubMed:2793861}.

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 SLC1A3_TIMP2


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 SLC1A3_TIMP2


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


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 SLC1A3_TIMP2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneSLC1A3P43003DB00142Glutamic AcidExcitatory amino acid transporter 1 {ECO:0000303|PubMed:16042756, ECO:0000303|PubMed:8647279}small moleculeapproved|nutraceutical

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RelatedDiseases for SLC1A3_TIMP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC1A3C0036341Schizophrenia4PSYGENET
HgeneSLC1A3C0004352Autistic Disorder1CTD_human
HgeneSLC1A3C0005586Bipolar Disorder1PSYGENET
HgeneSLC1A3C0014544Epilepsy1CTD_human;HPO
HgeneSLC1A3C0178417Anhedonia1PSYGENET
HgeneSLC1A3C2675211EPISODIC ATAXIA, TYPE 6 (disorder)1CTD_human;ORPHANET;UNIPROT
TgeneTIMP2C0000786Spontaneous abortion1CTD_human
TgeneTIMP2C0006663Calcinosis1CTD_human
TgeneTIMP2C0011853Diabetes Mellitus, Experimental1CTD_human
TgeneTIMP2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneTIMP2C0027051Myocardial Infarction1CTD_human
TgeneTIMP2C0028797Occupational Diseases1CTD_human
TgeneTIMP2C0032226Pleural Diseases1CTD_human