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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:TPST2-CRYBB1 (FusionGDB2 ID:93467)

Fusion Gene Summary for TPST2-CRYBB1

check button Fusion gene summary
Fusion gene informationFusion gene name: TPST2-CRYBB1
Fusion gene ID: 93467
HgeneTgene
Gene symbol

TPST2

CRYBB1

Gene ID

8459

1414

Gene nametyrosylprotein sulfotransferase 2crystallin beta B1
SynonymsTANGO13B|TPST-2CATCN3|CTRCT17
Cytomap

22q12.1

22q12.1

Type of geneprotein-codingprotein-coding
Descriptionprotein-tyrosine sulfotransferase 2transport and golgi organization 13 homolog Btyrosylprotein phosphotransferase 2beta-crystallin B1beta-B1 crystallineye lens structural protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000338754, ENST00000398110, 
ENST00000403880, 
ENST00000215939, 
Fusion gene scores* DoF score2 X 3 X 3=186 X 4 X 5=120
# samples 410
** MAII scorelog2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(10/120*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TPST2 [Title/Abstract] AND CRYBB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTPST2(26932254)-CRYBB1(26997985), # samples:4
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
HgeneTPST2

GO:0006478

peptidyl-tyrosine sulfation

9733778|23481380


check buttonFusion gene breakpoints across TPST2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CRYBB1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4LIHCTCGA-ZS-A9CF-01ATPST2chr22

26932254

-CRYBB1chr22

26997985

-
ChimerDB4LIHCTCGA-ZS-A9CF-02ATPST2chr22

26932254

-CRYBB1chr22

26997985

-
ChimerDB4UCECTCGA-EO-A3KW-01ATPST2chr22

26986017

-CRYBB1chr22

27008154

-
ChimerDB4UCECTCGA-EO-A3KW-01ATPST2chr22

26986017

-CRYBB1chr22

27012302

-
ChimerDB4UCECTCGA-EO-A3KWTPST2chr22

26986016

-CRYBB1chr22

27012302

-


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Fusion Gene ORF analysis for TPST2-CRYBB1

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
5UTR-3CDSENST00000338754ENST00000215939TPST2chr22

26986017

-CRYBB1chr22

27008154

-
5UTR-5UTRENST00000338754ENST00000215939TPST2chr22

26986017

-CRYBB1chr22

27012302

-
5UTR-5UTRENST00000338754ENST00000215939TPST2chr22

26986016

-CRYBB1chr22

27012302

-
Frame-shiftENST00000398110ENST00000215939TPST2chr22

26932254

-CRYBB1chr22

26997985

-
Frame-shiftENST00000403880ENST00000215939TPST2chr22

26932254

-CRYBB1chr22

26997985

-
In-frameENST00000338754ENST00000215939TPST2chr22

26932254

-CRYBB1chr22

26997985

-
intron-3CDSENST00000398110ENST00000215939TPST2chr22

26986017

-CRYBB1chr22

27008154

-
intron-3CDSENST00000403880ENST00000215939TPST2chr22

26986017

-CRYBB1chr22

27008154

-
intron-5UTRENST00000398110ENST00000215939TPST2chr22

26986017

-CRYBB1chr22

27012302

-
intron-5UTRENST00000398110ENST00000215939TPST2chr22

26986016

-CRYBB1chr22

27012302

-
intron-5UTRENST00000403880ENST00000215939TPST2chr22

26986017

-CRYBB1chr22

27012302

-
intron-5UTRENST00000403880ENST00000215939TPST2chr22

26986016

-CRYBB1chr22

27012302

-

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 TPST2-CRYBB1


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.
genomic feature

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 TPST2-CRYBB1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr22:26932254/chr22:26997985)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneTPST2chr22:26932254chr22:26997985ENST00000338754-47285_294347592.0RegionPAPS binding
HgeneTPST2chr22:26932254chr22:26997985ENST00000338754-4778_82347592.0RegionPAPS binding
HgeneTPST2chr22:26932254chr22:26997985ENST00000398110-47285_294347496.0RegionPAPS binding
HgeneTPST2chr22:26932254chr22:26997985ENST00000398110-4778_82347496.0RegionPAPS binding
HgeneTPST2chr22:26932254chr22:26997985ENST00000403880-58285_294347514.0RegionPAPS binding
HgeneTPST2chr22:26932254chr22:26997985ENST00000403880-5878_82347514.0RegionPAPS binding
HgeneTPST2chr22:26932254chr22:26997985ENST00000338754-471_8347592.0Topological domainCytoplasmic
HgeneTPST2chr22:26932254chr22:26997985ENST00000398110-471_8347496.0Topological domainCytoplasmic
HgeneTPST2chr22:26932254chr22:26997985ENST00000403880-581_8347514.0Topological domainCytoplasmic
HgeneTPST2chr22:26932254chr22:26997985ENST00000338754-479_25347592.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneTPST2chr22:26932254chr22:26997985ENST00000398110-479_25347496.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneTPST2chr22:26932254chr22:26997985ENST00000403880-589_25347514.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneCRYBB1chr22:26932254chr22:26997985ENST0000021593936149_190144253.0DomainBeta/gamma crystallin 'Greek key' 3
TgeneCRYBB1chr22:26932254chr22:26997985ENST0000021593936191_233144253.0DomainBeta/gamma crystallin 'Greek key' 4
TgeneCRYBB1chr22:26932254chr22:26997985ENST0000021593936144_148144253.0RegionNote=Connecting peptide
TgeneCRYBB1chr22:26932254chr22:26997985ENST0000021593936235_252144253.0RegionNote=C-terminal arm

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTPST2chr22:26932254chr22:26997985ENST00000338754-4726_377347592.0Topological domainLumenal
HgeneTPST2chr22:26932254chr22:26997985ENST00000398110-4726_377347496.0Topological domainLumenal
HgeneTPST2chr22:26932254chr22:26997985ENST00000403880-5826_377347514.0Topological domainLumenal
TgeneCRYBB1chr22:26932254chr22:26997985ENST000002159393659_98144253.0DomainBeta/gamma crystallin 'Greek key' 1
TgeneCRYBB1chr22:26932254chr22:26997985ENST000002159393699_143144253.0DomainBeta/gamma crystallin 'Greek key' 2
TgeneCRYBB1chr22:26932254chr22:26997985ENST00000215939362_58144253.0RegionNote=N-terminal arm


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Fusion Gene Sequence for TPST2-CRYBB1


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 TPST2-CRYBB1


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
HgeneTPST2chr22:26932254chr22:26997985ENST00000338754-47101_105347.0592.0peptide substrate
HgeneTPST2chr22:26932254chr22:26997985ENST00000398110-47101_105347.0496.0peptide substrate
HgeneTPST2chr22:26932254chr22:26997985ENST00000403880-58101_105347.0514.0peptide substrate


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 TPST2-CRYBB1


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 TPST2-CRYBB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource