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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: 39721

FusionGeneSummary for TSC22D1_MIR548O2

check button Fusion gene summary
Fusion gene informationFusion gene name: TSC22D1_MIR548O2
Fusion gene ID: 39721
HgeneTgene
Gene symbol

TSC22D1

MIR548O2

Gene ID

8848

100616190

Gene nameTSC22 domain family member 1microRNA 548o-2
SynonymsPtg-2|TGFB1I4|TSC22-
Cytomap

13q14.11

20q11.23

Type of geneprotein-codingncRNA
DescriptionTSC22 domain family protein 1TGFB-stimulated clone 22 homologTGFbeta-stimulated clone 22cerebral protein 2regulatory protein TSC-22transcriptional regulator TSC-22transforming growth factor beta-1-induced transcript 4 proteintransforming growth fachsa-mir-548o-2
Modification date2018052220180403
UniProtAcc

Q15714

Ensembl transtripts involved in fusion geneENST00000458659, ENST00000501704, 
ENST00000261489, ENST00000460842, 
ENST00000583129, 
Fusion gene scores* DoF score13 X 12 X 7=10923 X 3 X 1=9
# samples 164
** MAII scorelog2(16/1092*10)=-2.77082904603249
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/9*10)=2.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TSC22D1 [Title/Abstract] AND MIR548O2 [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

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
ChiTaRS3.1BE176674TSC22D1chr13

45008137

+MIR548O2chr8

29923649

-
* 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-intronENST00000458659ENST00000583129TSC22D1chr13

45008137

+MIR548O2chr8

29923649

-
intron-intronENST00000501704ENST00000583129TSC22D1chr13

45008137

+MIR548O2chr8

29923649

-
intron-intronENST00000261489ENST00000583129TSC22D1chr13

45008137

+MIR548O2chr8

29923649

-
intron-intronENST00000460842ENST00000583129TSC22D1chr13

45008137

+MIR548O2chr8

29923649

-

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FusionProtFeatures for TSC22D1_MIR548O2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TSC22D1

Q15714

MIR548O2

Transcriptional repressor. Acts on the C-typenatriuretic peptide (CNP) promoter. 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}.

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 TSC22D1_MIR548O2


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 TSC22D1_MIR548O2


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 TSC22D1_MIR548O2


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 TSC22D1_MIR548O2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTSC22D1C0023904Liver Neoplasms, Experimental2CTD_human
HgeneTSC22D1C0007621Neoplastic Cell Transformation1CTD_human
HgeneTSC22D1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneTSC22D1C0024667Animal Mammary Neoplasms1CTD_human
HgeneTSC22D1C0024668Mammary Neoplasms, Experimental1CTD_human