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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: 16390

FusionGeneSummary for HLA-F-AS1_TSC1

check button Fusion gene summary
Fusion gene informationFusion gene name: HLA-F-AS1_TSC1
Fusion gene ID: 16390
HgeneTgene
Gene symbol

HLA-F-AS1

TSC1

Gene ID

285830

7248

Gene nameHLA-F antisense RNA 1TSC complex subunit 1
Synonyms-LAM|TSC
Cytomap

6p22.1

9q34.13

Type of genencRNAprotein-coding
DescriptionHLA-F antisense RNA 1 (non-protein coding)hamartintuberous sclerosis 1 protein
Modification date2018032920180523
UniProtAcc

Q92574

Ensembl transtripts involved in fusion geneENST00000458236, ENST00000298552, 
ENST00000545250, ENST00000440111, 
ENST00000403810, ENST00000475903, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 2=8
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: HLA-F-AS1 [Title/Abstract] AND TSC1 [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
TgeneTSC1

GO:0006417

regulation of translation

17308101

TgeneTSC1

GO:0032780

negative regulation of ATPase activity

29127155

TgeneTSC1

GO:0032868

response to insulin

16996505

TgeneTSC1

GO:0050821

protein stabilization

11175345

TgeneTSC1

GO:0051492

regulation of stress fiber assembly

10806479

TgeneTSC1

GO:0051894

positive regulation of focal adhesion assembly

10806479

TgeneTSC1

GO:0090630

activation of GTPase activity

10806479


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
ChiTaRS3.1BF738281HLA-F-AS1chr6

1053779

-TSC1chr9

135804247

+
* 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-3CDSENST00000458236ENST00000298552HLA-F-AS1chr6

1053779

-TSC1chr9

135804247

+
intron-3CDSENST00000458236ENST00000545250HLA-F-AS1chr6

1053779

-TSC1chr9

135804247

+
intron-3CDSENST00000458236ENST00000440111HLA-F-AS1chr6

1053779

-TSC1chr9

135804247

+
intron-3CDSENST00000458236ENST00000403810HLA-F-AS1chr6

1053779

-TSC1chr9

135804247

+
intron-5UTRENST00000458236ENST00000475903HLA-F-AS1chr6

1053779

-TSC1chr9

135804247

+

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FusionProtFeatures for HLA-F-AS1_TSC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HLA-F-AS1

TSC1

Q92574

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. 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}.

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 HLA-F-AS1_TSC1


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 HLA-F-AS1_TSC1


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 HLA-F-AS1_TSC1


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 HLA-F-AS1_TSC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTSC1C1854465TUBEROUS SCLEROSIS 1 (disorder)6CTD_human;UNIPROT
TgeneTSC1C0041341Tuberous Sclerosis3CTD_human;ORPHANET
TgeneTSC1C0014544Epilepsy2CTD_human;HPO
TgeneTSC1C0004352Autistic Disorder1CTD_human;HPO
TgeneTSC1C0006111Brain Diseases1CTD_human
TgeneTSC1C0007134Renal Cell Carcinoma1CTD_human;HPO
TgeneTSC1C0007137Squamous cell carcinoma1CTD_human
TgeneTSC1C0009241Cognition Disorders1CTD_human
TgeneTSC1C0026640Mouth Neoplasms1CTD_human
TgeneTSC1C0037769West Syndrome1CTD_human
TgeneTSC1C0751778Myoclonic Epilepsies, Progressive1CTD_human
TgeneTSC1C1846385FOCAL CORTICAL DYSPLASIA OF TAYLOR1CTD_human;ORPHANET
TgeneTSC1C2239176Liver carcinoma1CTD_human