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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:SF3B2-TG (FusionGDB2 ID:80487)

Fusion Gene Summary for SF3B2-TG

check button Fusion gene summary
Fusion gene informationFusion gene name: SF3B2-TG
Fusion gene ID: 80487
HgeneTgene
Gene symbol

SF3B2

TG

Gene ID

10992

7038

Gene namesplicing factor 3b subunit 2thyroglobulin
SynonymsCus1|SAP145|SF3B145|SF3b1|SF3b150AITD3|TGN
Cytomap

11q13.1

8q24.22

Type of geneprotein-codingprotein-coding
Descriptionsplicing factor 3B subunit 2SAP 145pre-mRNA splicing factor SF3b 145 kDa subunitspliceosome associated protein 145splicing factor 3b, subunit 2, 145kDsplicing factor 3b, subunit 2, 145kDathyroglobulin
Modification date2020031320200313
UniProtAcc.

TIAF1

Ensembl transtripts involved in fusion geneENST00000534307, ENST00000528302, 
ENST00000322535, 
ENST00000377869, 
ENST00000220616, ENST00000542445, 
ENST00000519543, ENST00000522523, 
Fusion gene scores* DoF score11 X 14 X 5=77027 X 26 X 8=5616
# samples 1529
** MAII scorelog2(15/770*10)=-2.35989594508638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(29/5616*10)=-4.27541813028963
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SF3B2 [Title/Abstract] AND TG [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSF3B2(65835823)-TG(134030114), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneSF3B2

GO:0000398

mRNA splicing, via spliceosome

29360106


check buttonFusion gene breakpoints across SF3B2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across TG (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4Non-CancerTCGA-EL-A3MY-11ASF3B2chr11

65835823

+TGchr8

134030114

+


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Fusion Gene ORF analysis for SF3B2-TG

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-3CDSENST00000534307ENST00000377869SF3B2chr11

65835823

+TGchr8

134030114

+
intron-3CDSENST00000534307ENST00000220616SF3B2chr11

65835823

+TGchr8

134030114

+
intron-3CDSENST00000534307ENST00000542445SF3B2chr11

65835823

+TGchr8

134030114

+
intron-3CDSENST00000534307ENST00000519543SF3B2chr11

65835823

+TGchr8

134030114

+
intron-3UTRENST00000534307ENST00000522523SF3B2chr11

65835823

+TGchr8

134030114

+
intron-3CDSENST00000528302ENST00000377869SF3B2chr11

65835823

+TGchr8

134030114

+
intron-3CDSENST00000528302ENST00000220616SF3B2chr11

65835823

+TGchr8

134030114

+
intron-3CDSENST00000528302ENST00000542445SF3B2chr11

65835823

+TGchr8

134030114

+
intron-3CDSENST00000528302ENST00000519543SF3B2chr11

65835823

+TGchr8

134030114

+
intron-3UTRENST00000528302ENST00000522523SF3B2chr11

65835823

+TGchr8

134030114

+
intron-3CDSENST00000322535ENST00000377869SF3B2chr11

65835823

+TGchr8

134030114

+
intron-3CDSENST00000322535ENST00000220616SF3B2chr11

65835823

+TGchr8

134030114

+
intron-3CDSENST00000322535ENST00000542445SF3B2chr11

65835823

+TGchr8

134030114

+
intron-3CDSENST00000322535ENST00000519543SF3B2chr11

65835823

+TGchr8

134030114

+
intron-3UTRENST00000322535ENST00000522523SF3B2chr11

65835823

+TGchr8

134030114

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for SF3B2-TG


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for SF3B2-TG


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

TIAF1

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.115

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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Fusion Gene Sequence for SF3B2-TG


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for SF3B2-TG


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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Related Drugs for SF3B2-TG


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for SF3B2-TG


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTGC0342194Thyroid Dyshormonogenesis 38CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneTGC0018021Goiter2CTD_human
TgeneTGC1848805Thyroid Dyshormonogenesis 12ORPHANET
TgeneTGC0003469Anxiety Disorders1CTD_human
TgeneTGC0004364Autoimmune Diseases1CTD_human
TgeneTGC0010308Congenital Hypothyroidism1GENOMICS_ENGLAND
TgeneTGC0011573Endogenous depression1CTD_human
TgeneTGC0011581Depressive disorder1CTD_human
TgeneTGC0013336Dwarfism1CTD_human
TgeneTGC0025193Melancholia1CTD_human
TgeneTGC0041696Unipolar Depression1CTD_human
TgeneTGC0086133Depressive Syndrome1CTD_human
TgeneTGC0282126Depression, Neurotic1CTD_human
TgeneTGC0376280Anxiety States, Neurotic1CTD_human
TgeneTGC0677607Hashimoto Disease1CTD_human
TgeneTGC0920350Autoimmune thyroiditis1CTD_human
TgeneTGC1279420Anxiety neurosis (finding)1CTD_human