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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: 39710

FusionGeneSummary for TSC1_CEL

check button Fusion gene summary
Fusion gene informationFusion gene name: TSC1_CEL
Fusion gene ID: 39710
HgeneTgene
Gene symbol

TSC1

CEL

Gene ID

7248

1056

Gene nameTSC complex subunit 1carboxyl ester lipase
SynonymsLAM|TSCBAL|BSDL|BSSL|CELL|CEase|FAP|FAPP|LIPA|MODY8
Cytomap

9q34.13

9q34.13

Type of geneprotein-codingprotein-coding
Descriptionhamartintuberous sclerosis 1 proteinbile salt-activated lipasebile salt-dependent lipase, oncofetal isoformbucelipasecarboxyl ester hydrolasecarboxyl ester lipase (bile salt-stimulated lipase)cholesterol esterasefetoacinar pancreatic proteinlysophospholipase, pancreaticsterol estera
Modification date2018052320180528
UniProtAcc

Q92574

P19835

Ensembl transtripts involved in fusion geneENST00000298552, ENST00000545250, 
ENST00000440111, ENST00000403810, 
ENST00000475903, 
ENST00000351304, 
ENST00000372080, 
Fusion gene scores* DoF score3 X 1 X 3=93 X 3 X 3=27
# samples 33
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TSC1 [Title/Abstract] AND CEL [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
HgeneTSC1

GO:0006417

regulation of translation

17308101

HgeneTSC1

GO:0032780

negative regulation of ATPase activity

29127155

HgeneTSC1

GO:0032868

response to insulin

16996505

HgeneTSC1

GO:0050821

protein stabilization

11175345

HgeneTSC1

GO:0051492

regulation of stress fiber assembly

10806479

HgeneTSC1

GO:0051894

positive regulation of focal adhesion assembly

10806479

HgeneTSC1

GO:0090630

activation of GTPase activity

10806479

TgeneCEL

GO:0006707

cholesterol catabolic process

12031288

TgeneCEL

GO:0030157

pancreatic juice secretion

1854805


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
TCGARVPRADTCGA-EJ-5503-01ATSC1chr9

135796750

-CELchr9

135945848

+
* 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
5CDS-intronENST00000298552ENST00000351304TSC1chr9

135796750

-CELchr9

135945848

+
5CDS-intronENST00000298552ENST00000372080TSC1chr9

135796750

-CELchr9

135945848

+
5CDS-intronENST00000545250ENST00000351304TSC1chr9

135796750

-CELchr9

135945848

+
5CDS-intronENST00000545250ENST00000372080TSC1chr9

135796750

-CELchr9

135945848

+
5CDS-intronENST00000440111ENST00000351304TSC1chr9

135796750

-CELchr9

135945848

+
5CDS-intronENST00000440111ENST00000372080TSC1chr9

135796750

-CELchr9

135945848

+
5CDS-intronENST00000403810ENST00000351304TSC1chr9

135796750

-CELchr9

135945848

+
5CDS-intronENST00000403810ENST00000372080TSC1chr9

135796750

-CELchr9

135945848

+
intron-intronENST00000475903ENST00000351304TSC1chr9

135796750

-CELchr9

135945848

+
intron-intronENST00000475903ENST00000372080TSC1chr9

135796750

-CELchr9

135945848

+

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FusionProtFeatures for TSC1_CEL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TSC1

Q92574

CEL

P19835

In complex with TSC2, inhibits the nutrient-mediated orgrowth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 bynegatively regulating mTORC1 signaling (PubMed:12271141,PubMed:28215400). Seems not to be required for TSC2 GAP activitytowards RHEB (PubMed:15340059). Implicated as a tumor suppressor.Involved in microtubule-mediated protein transport, but this seemsto be due to unregulated mTOR signaling (By similarity). Acts as aco-chaperone for HSP90AA1 facilitating HSP90AA1 chaperoning ofprotein clients such as kinases, TSC2 and glucocorticoid receptorNR3C1 (PubMed:29127155). Increases ATP binding to HSP90AA1 andinhibits HSP90AA1 ATPase activity (PubMed:29127155). Competes withthe activating co-chaperone AHSA1 for binding to HSP90AA1, therebyproviding a reciprocal regulatory mechanism for chaperoning ofclient proteins (PubMed:29127155). Recruits TSC2 to HSP90AA1 andstabilizes TSC2 by preventing the interaction between TSC2 andubiquitin ligase HERC1 (PubMed:16464865, PubMed:29127155).{ECO:0000250|UniProtKB:Q9Z136, ECO:0000269|PubMed:12271141,ECO:0000269|PubMed:15340059, ECO:0000269|PubMed:16464865,ECO:0000269|PubMed:28215400, ECO:0000269|PubMed:29127155}. Catalyzes fat and vitamin absorption. Acts in concertwith pancreatic lipase and colipase for the complete digestion ofdietary triglycerides.

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 TSC1_CEL


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 TSC1_CEL


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
TSC1MSN, YWHAZ, EZR, ACTA1, AKT1, NEFL, PLK1, RHEB, RPS6KA1, CDK1, GSK3B, PAM, PTK2, TSC1, TSC2, AXIN1, DOCK7, FBXW5, TBC1D7, BECN1, YWHAB, YWHAG, CDKN1B, IKBKB, ATXN1, NGFRAP1, YWHAE, MAPK14, ESR1, KDM1A, PRMT6, CIAO1, MOV10, NXF1, DAPK1, RRAGA, RRAGC, AKTIP, HSH2D, SH2D2A, APPL2, DOK5, RIN3, TENC1, KDM5C, TOP1, VHL, PPM1H, CPVL, DYRK1A, PCM1, PIH1D1, RPAP3, RUVBL1, RUVBL2, URI1, WDR92CELBPGM, OLR1


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 TSC1_CEL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TSC1_CEL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTSC1C1854465TUBEROUS SCLEROSIS 1 (disorder)6CTD_human;UNIPROT
HgeneTSC1C0041341Tuberous Sclerosis3CTD_human;ORPHANET
HgeneTSC1C0014544Epilepsy2CTD_human;HPO
HgeneTSC1C0004352Autistic Disorder1CTD_human;HPO
HgeneTSC1C0006111Brain Diseases1CTD_human
HgeneTSC1C0007134Renal Cell Carcinoma1CTD_human;HPO
HgeneTSC1C0007137Squamous cell carcinoma1CTD_human
HgeneTSC1C0009241Cognition Disorders1CTD_human
HgeneTSC1C0026640Mouth Neoplasms1CTD_human
HgeneTSC1C0037769West Syndrome1CTD_human
HgeneTSC1C0751778Myoclonic Epilepsies, Progressive1CTD_human
HgeneTSC1C1846385FOCAL CORTICAL DYSPLASIA OF TAYLOR1CTD_human;ORPHANET
HgeneTSC1C2239176Liver carcinoma1CTD_human
TgeneCELC0149521Pancreatitis, Chronic1CTD_human