FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:TPST2-CRYBB1 (FusionGDB2 ID:92818)

Fusion Gene Summary for TPST2-CRYBB1

check button Fusion gene summary
Fusion gene informationFusion gene name: TPST2-CRYBB1
Fusion gene ID: 92818
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.

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.

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
ChimerDB4UCECTCGA-EO-A3KWTPST2chr22

26986016

-CRYBB1chr22

27012302

-
ChimerDB4LIHCTCGA-ZS-A9CF-01ATPST2chr22

26932254

-CRYBB1chr22

26997985

-
ChimerDB4LIHCTCGA-ZS-A9CF-02ATPST2chr22

26932254

-CRYBB1chr22

26997985

-
ChimerDB4UCECTCGA-EO-A3KW-01ATPST2chr22

26986017

-CRYBB1chr22

27012302

-
ChimerDB4UCECTCGA-EO-A3KW-01ATPST2chr22

26986017

-CRYBB1chr22

27008154

-
ChimerDB4UCECTCGA-EO-A3KW-01ATPST2chr22

26986017

-CRYBB1chr22

27012302

-
ChimerDB4LIHCTCGA-ZS-A9CF-01ATPST2chr22

26932254

-CRYBB1chr22

26997985

-
ChimerDB4LIHCTCGA-ZS-A9CF-02ATPST2chr22

26932254

-CRYBB1chr22

26997985

-


Top

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-5UTRENST00000338754ENST00000215939TPST2chr22

26986016

-CRYBB1chr22

27012302

-
intron-5UTRENST00000398110ENST00000215939TPST2chr22

26986016

-CRYBB1chr22

27012302

-
intron-5UTRENST00000403880ENST00000215939TPST2chr22

26986016

-CRYBB1chr22

27012302

-
In-frameENST00000338754ENST00000215939TPST2chr22

26932254

-CRYBB1chr22

26997985

-
Frame-shiftENST00000398110ENST00000215939TPST2chr22

26932254

-CRYBB1chr22

26997985

-
Frame-shiftENST00000403880ENST00000215939TPST2chr22

26932254

-CRYBB1chr22

26997985

-
5UTR-5UTRENST00000338754ENST00000215939TPST2chr22

26986017

-CRYBB1chr22

27012302

-
intron-5UTRENST00000398110ENST00000215939TPST2chr22

26986017

-CRYBB1chr22

27012302

-
intron-5UTRENST00000403880ENST00000215939TPST2chr22

26986017

-CRYBB1chr22

27012302

-
5UTR-3CDSENST00000338754ENST00000215939TPST2chr22

26986017

-CRYBB1chr22

27008154

-
intron-3CDSENST00000398110ENST00000215939TPST2chr22

26986017

-CRYBB1chr22

27008154

-
intron-3CDSENST00000403880ENST00000215939TPST2chr22

26986017

-CRYBB1chr22

27008154

-

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

Top

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.

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.

Top

Fusion Protein Features for TPST2-CRYBB1


check button Go to

FGviewer for the breakpoints of 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.
FGviewer

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

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_294347.0592.0RegionPAPS binding
HgeneTPST2chr22:26932254chr22:26997985ENST00000338754-4778_82347.0592.0RegionPAPS binding
HgeneTPST2chr22:26932254chr22:26997985ENST00000398110-47285_294347.0496.0RegionPAPS binding
HgeneTPST2chr22:26932254chr22:26997985ENST00000398110-4778_82347.0496.0RegionPAPS binding
HgeneTPST2chr22:26932254chr22:26997985ENST00000403880-58285_294347.0514.0RegionPAPS binding
HgeneTPST2chr22:26932254chr22:26997985ENST00000403880-5878_82347.0514.0RegionPAPS binding
HgeneTPST2chr22:26932254chr22:26997985ENST00000338754-471_8347.0592.0Topological domainCytoplasmic
HgeneTPST2chr22:26932254chr22:26997985ENST00000398110-471_8347.0496.0Topological domainCytoplasmic
HgeneTPST2chr22:26932254chr22:26997985ENST00000403880-581_8347.0514.0Topological domainCytoplasmic
HgeneTPST2chr22:26932254chr22:26997985ENST00000338754-479_25347.0592.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneTPST2chr22:26932254chr22:26997985ENST00000398110-479_25347.0496.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneTPST2chr22:26932254chr22:26997985ENST00000403880-589_25347.0514.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneCRYBB1chr22:26932254chr22:26997985ENST0000021593936149_190144.0253.0DomainBeta/gamma crystallin 'Greek key' 3
TgeneCRYBB1chr22:26932254chr22:26997985ENST0000021593936191_233144.0253.0DomainBeta/gamma crystallin 'Greek key' 4
TgeneCRYBB1chr22:26932254chr22:26997985ENST0000021593936144_148144.0253.0RegionNote=Connecting peptide
TgeneCRYBB1chr22:26932254chr22:26997985ENST0000021593936235_252144.0253.0RegionNote=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_377347.0592.0Topological domainLumenal
HgeneTPST2chr22:26932254chr22:26997985ENST00000398110-4726_377347.0496.0Topological domainLumenal
HgeneTPST2chr22:26932254chr22:26997985ENST00000403880-5826_377347.0514.0Topological domainLumenal
TgeneCRYBB1chr22:26932254chr22:26997985ENST000002159393659_98144.0253.0DomainBeta/gamma crystallin 'Greek key' 1
TgeneCRYBB1chr22:26932254chr22:26997985ENST000002159393699_143144.0253.0DomainBeta/gamma crystallin 'Greek key' 2
TgeneCRYBB1chr22:26932254chr22:26997985ENST00000215939362_58144.0253.0RegionNote=N-terminal arm


Top

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.

Top

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


Top

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

Top

Related Diseases for TPST2-CRYBB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCRYBB1C3888124CATARACT 17, MULTIPLE TYPES4GENOMICS_ENGLAND;UNIPROT
TgeneCRYBB1C0392557Nuclear cataract3ORPHANET
TgeneCRYBB1C1112705Nuclear non-senile cataract3ORPHANET
TgeneCRYBB1C1833118Cataract, Pulverulent3ORPHANET
TgeneCRYBB1C1852438CATARACT, COPPOCK-LIKE3ORPHANET
TgeneCRYBB1C1861829Cataract microcornea syndrome2ORPHANET
TgeneCRYBB1C0086543Cataract1CTD_human
TgeneCRYBB1C0524524Pseudoaphakia1CTD_human
TgeneCRYBB1C1510497Lens Opacities1CTD_human