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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: 32677

FusionGeneSummary for SAT1_SERPINE1

check button Fusion gene summary
Fusion gene informationFusion gene name: SAT1_SERPINE1
Fusion gene ID: 32677
HgeneTgene
Gene symbol

SAT1

SERPINE1

Gene ID

81539

5054

Gene namesolute carrier family 38 member 1serpin family E member 1
SynonymsATA1|NAT2|SAT1|SNAT1PAI|PAI-1|PAI1|PLANH1
Cytomap

12q13.11

7q22.1

Type of geneprotein-codingprotein-coding
Descriptionsodium-coupled neutral amino acid transporter 1N-system amino acid transporter 2amino acid transporter A1amino acid transporter system A1system A amino acid transporter 1system N amino acid transporter 1plasminogen activator inhibitor 1endothelial plasminogen activator inhibitorserine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1serpin E1serpin peptidase inhibitor, clade E (nexin, plasminogen ac
Modification date2018052320180527
UniProtAcc

P21673

P05121

Ensembl transtripts involved in fusion geneENST00000379251, ENST00000379253, 
ENST00000379254, ENST00000379270, 
ENST00000489394, 
ENST00000223095, 
ENST00000445463, 
Fusion gene scores* DoF score6 X 10 X 2=1206 X 6 X 1=36
# samples 116
** MAII scorelog2(11/120*10)=-0.125530882083859
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/36*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SAT1 [Title/Abstract] AND SERPINE1 [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
TgeneSERPINE1

GO:0010469

regulation of signaling receptor activity

8837777

TgeneSERPINE1

GO:0010757

negative regulation of plasminogen activation

8508955

TgeneSERPINE1

GO:0010951

negative regulation of endopeptidase activity

1695900

TgeneSERPINE1

GO:0014912

negative regulation of smooth muscle cell migration

8837777

TgeneSERPINE1

GO:0030336

negative regulation of cell migration

10902815

TgeneSERPINE1

GO:0033629

negative regulation of cell adhesion mediated by integrin

8837777

TgeneSERPINE1

GO:0048260

positive regulation of receptor-mediated endocytosis

8626514

TgeneSERPINE1

GO:0051918

negative regulation of fibrinolysis

2503541

TgeneSERPINE1

GO:0097187

dentinogenesis

27046084

TgeneSERPINE1

GO:1901331

positive regulation of odontoblast differentiation

27046084

TgeneSERPINE1

GO:2000098

negative regulation of smooth muscle cell-matrix adhesion

8837777


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
ChiTaRS3.1BE765420SAT1chrX

23804055

-SERPINE1chr7

100781547

-
* 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
intron-3UTRENST00000379251ENST00000223095SAT1chrX

23804055

-SERPINE1chr7

100781547

-
intron-3UTRENST00000379251ENST00000445463SAT1chrX

23804055

-SERPINE1chr7

100781547

-
intron-3UTRENST00000379253ENST00000223095SAT1chrX

23804055

-SERPINE1chr7

100781547

-
intron-3UTRENST00000379253ENST00000445463SAT1chrX

23804055

-SERPINE1chr7

100781547

-
3UTR-3UTRENST00000379254ENST00000223095SAT1chrX

23804055

-SERPINE1chr7

100781547

-
3UTR-3UTRENST00000379254ENST00000445463SAT1chrX

23804055

-SERPINE1chr7

100781547

-
3UTR-3UTRENST00000379270ENST00000223095SAT1chrX

23804055

-SERPINE1chr7

100781547

-
3UTR-3UTRENST00000379270ENST00000445463SAT1chrX

23804055

-SERPINE1chr7

100781547

-
3UTR-3UTRENST00000489394ENST00000223095SAT1chrX

23804055

-SERPINE1chr7

100781547

-
3UTR-3UTRENST00000489394ENST00000445463SAT1chrX

23804055

-SERPINE1chr7

100781547

-

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FusionProtFeatures for SAT1_SERPINE1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SAT1

P21673

SERPINE1

P05121

Enzyme which catalyzes the acetylation of polyamines.Substrate specificity: norspermidine = spermidine >> spermine >N(1)-acetylspermine > putrescine. This highly regulated enzymeallows a fine attenuation of the intracellular concentration ofpolyamines. Also involved in the regulation of polyamine transportout of cells. Acts on 1,3-diaminopropane, 1,5-diaminopentane,putrescine, spermidine (forming N(1)- and N(8)-acetylspermidine),spermine, N(1)-acetylspermidine and N(8)-acetylspermidine.{ECO:0000269|PubMed:16455797, ECO:0000269|PubMed:17516632}. Serine protease inhibitor. Inhibits TMPRSS7(PubMed:15853774). Is a primary inhibitor of tissue-typeplasminogen activator (PLAT) and urokinase-type plasminogenactivator (PLAU). As PLAT inhibitor, it is required forfibrinolysis down-regulation and is responsible for the controlleddegradation of blood clots (PubMed:8481516, PubMed:9207454,PubMed:17912461). As PLAU inhibitor, it is involved in theregulation of cell adhesion and spreading (PubMed:9175705). Actsas a regulator of cell migration, independently of its role asprotease inhibitor (PubMed:15001579, PubMed:9168821). It isrequired for stimulation of keratinocyte migration duringcutaneous injury repair (PubMed:18386027). It is involved incellular and replicative senescence (PubMed:16862142). Plays arole in alveolar type 2 cells senescence in the lung (Bysimilarity). Is involved in the regulation of cementogenicdifferentiation of periodontal ligament stem cells, and regulatesodontoblast differentiation and dentin formation duringodontogenesis (PubMed:25808697, PubMed:27046084).{ECO:0000250|UniProtKB:P22777, ECO:0000269|PubMed:15001579,ECO:0000269|PubMed:15853774, ECO:0000269|PubMed:16862142,ECO:0000269|PubMed:17912461, ECO:0000269|PubMed:18386027,ECO:0000269|PubMed:25808697, ECO:0000269|PubMed:27046084,ECO:0000269|PubMed:8481516, ECO:0000269|PubMed:9168821,ECO:0000269|PubMed:9175705, ECO:0000269|PubMed:9207454}.

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 SAT1_SERPINE1


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 SAT1_SERPINE1


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 SAT1_SERPINE1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneSERPINE1P05121DB00009AlteplasePlasminogen activator inhibitor 1biotechapproved
TgeneSERPINE1P05121DB00029AnistreplasePlasminogen activator inhibitor 1biotechapproved
TgeneSERPINE1P05121DB00031TenecteplasePlasminogen activator inhibitor 1biotechapproved
TgeneSERPINE1P05121DB00015ReteplasePlasminogen activator inhibitor 1biotechapproved|investigational
TgeneSERPINE1P05121DB00013UrokinasePlasminogen activator inhibitor 1biotechapproved|investigational|withdrawn
TgeneSERPINE1P05121DB00055Drotrecogin alfaPlasminogen activator inhibitor 1biotechapproved|investigational|withdrawn

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RelatedDiseases for SAT1_SERPINE1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSAT1C0005586Bipolar Disorder2PSYGENET
HgeneSAT1C0011581Depressive disorder2PSYGENET
HgeneSAT1C0001956alcohol use disorder1PSYGENET
HgeneSAT1C0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneSAT1C0028754Obesity1CTD_human
HgeneSAT1C0033975Psychotic Disorders1PSYGENET
HgeneSAT1C0036337Schizoaffective Disorder1PSYGENET
HgeneSAT1C0036341Schizophrenia1PSYGENET
HgeneSAT1C0041696Unipolar Depression1PSYGENET
HgeneSAT1C0162820Dermatitis, Allergic Contact1CTD_human
HgeneSAT1C0349204Nonorganic psychosis1PSYGENET
HgeneSAT1C0525045Mood Disorders1PSYGENET
HgeneSAT1C1269683Major Depressive Disorder1PSYGENET
TgeneSERPINE1C0020538Hypertensive disease2CTD_human
TgeneSERPINE1C0040053Thrombosis2CTD_human
TgeneSERPINE1C0004153Atherosclerosis1CTD_human
TgeneSERPINE1C0004352Autistic Disorder1CTD_human
TgeneSERPINE1C0004943Behcet Syndrome1CTD_human
TgeneSERPINE1C0008370Cholestasis1CTD_human
TgeneSERPINE1C0011853Diabetes Mellitus, Experimental1CTD_human
TgeneSERPINE1C0011881Diabetic Nephropathy1CTD_human
TgeneSERPINE1C0015695Fatty Liver1CTD_human
TgeneSERPINE1C0017668Focal glomerulosclerosis1CTD_human
TgeneSERPINE1C0018801Heart failure1CTD_human
TgeneSERPINE1C0022661Kidney Failure, Chronic1CTD_human
TgeneSERPINE1C0023903Liver neoplasms1CTD_human
TgeneSERPINE1C0027726Nephrotic Syndrome1CTD_human
TgeneSERPINE1C0027765nervous system disorder1CTD_human
TgeneSERPINE1C0028754Obesity1CTD_human
TgeneSERPINE1C0032914Pre-Eclampsia1CTD_human
TgeneSERPINE1C0033578Prostatic Neoplasms1CTD_human
TgeneSERPINE1C0035228Respiratory Hypersensitivity1CTD_human
TgeneSERPINE1C0038356Stomach Neoplasms1CTD_human
TgeneSERPINE1C0041696Unipolar Depression1PSYGENET
TgeneSERPINE1C0086132Depressive Symptoms1PSYGENET
TgeneSERPINE1C1269683Major Depressive Disorder1PSYGENET