UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use
Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:PDIA3-SF3B1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PDIA3-SF3B1
FusionPDB ID: 63894
FusionGDB2.0 ID: 63894
HgeneTgene
Gene symbol

PDIA3

SF3B1

Gene ID

2923

23451

Gene nameprotein disulfide isomerase family A member 3splicing factor 3b subunit 1
SynonymsER60|ERp57|ERp60|ERp61|GRP57|GRP58|HEL-S-269|HEL-S-93n|HsT17083|P58|PI-PLCHsh155|MDS|PRP10|PRPF10|SAP155|SF3b155
Cytomap

15q15.3

2q33.1

Type of geneprotein-codingprotein-coding
Descriptionprotein disulfide-isomerase A358 kDa glucose-regulated protein58 kDa microsomal proteinER protein 57ER protein 60disulfide isomerase ER-60endoplasmic reticulum P58endoplasmic reticulum resident protein 57endoplasmic reticulum resident protein 60esplicing factor 3B subunit 1pre-mRNA processing 10pre-mRNA splicing factor SF3b, 155 kDa subunitspliceosome-associated protein 155splicing factor 3b, subunit 1, 155kDa
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000300289, ENST00000538521, 
ENST00000469684, 		ENST00000409915, 
ENST00000414963, ENST00000462613, 
ENST00000487698, ENST00000335508, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 14 X 5=9106 X 8 X 4=192
# samples 169
** MAII scorelog2(16/910*10)=-2.5077946401987
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/192*10)=-1.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: PDIA3 [Title/Abstract] AND SF3B1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PDIA3(44059108)-SF3B1(198257912), # samples:1
Anticipated loss of major functional domain due to fusion event.PDIA3-SF3B1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
PDIA3-SF3B1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
PDIA3-SF3B1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
PDIA3-SF3B1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
TgeneSF3B1

GO:0000398

mRNA splicing, via spliceosome

11252167|28781166|29360106


check buttonFusion gene breakpoints across PDIA3 (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 SF3B1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4ESCATCGA-LN-A49WPDIA3chr15

44059108

+SF3B1chr2

198257912

-


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000300289PDIA3chr1544059108+ENST00000335508SF3B1chr2198257912-4071117671551514
ENST00000538521PDIA3chr1544059108+ENST00000335508SF3B1chr2198257912-418512902171665482

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
ENST00000300289ENST00000335508PDIA3chr1544059108+SF3B1chr2198257912-0.0001297530.9998702
ENST00000538521ENST00000335508PDIA3chr1544059108+SF3B1chr2198257912-0.0003839860.999616

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>63894_63894_1_PDIA3-SF3B1_PDIA3_chr15_44059108_ENST00000300289_SF3B1_chr2_198257912_ENST00000335508_length(amino acids)=514AA_BP=390
MGVGTSGCRSAWARRASASSGLVVARPTSAVPAEPRPFRPSPPHLAAMRLRRLALFPGVALLLAAARLAAASDVLELTDDNFESRISDTG
SAGLMLVEFFAPWCGHCKRLAPEYEAAATRLKGIVPLAKVDCTANTNTCNKYGVSGYPTLKIFRDGEEAGAYDGPRTADGIVSHLKKQAG
PASVPLRTEEEFKKFISDKDASIVGFFDDSFSEAHSEFLKAASNLRDNYRFAHTNVESLVNEYDDNGEGIILFRPSHLTNKFEDKTVAYT
EQKMTSGKIKKFIQENIFGICPHMTEDNKDLIQGKDLLIAYYDVDYEKNAKGSNYWRNRVMMVAKKFLDAGHKLNFAVASRKTFSHELSD
FGLESTAGEIPVVAIRTAKGEKFVMQEEFSDLVHRQTASAVVQHMSLGVYGFGCEDSLNHLLNYVWPNVFETSPHVIQAVMGALEGLRVA

--------------------------------------------------------------

>63894_63894_2_PDIA3-SF3B1_PDIA3_chr15_44059108_ENST00000538521_SF3B1_chr2_198257912_ENST00000335508_length(amino acids)=482AA_BP=358
MRASCSSSSSPPVPFLLDLKRRVSSSLIETLFVDLMTLWILPKFKAVDFSPSLAAYTHTWLLPRFLEILIQCGHCKRLAPEYEAAATRLK
GIVPLAKVDCTANTNTCNKYGVSGYPTLKIFRDGEEAGAYDGPRTADGIVSHLKKQAGPASVPLRTEEEFKKFISDKDASIVGFFDDSFS
EAHSEFLKAASNLRDNYRFAHTNVESLVNEYDDNGEGIILFRPSHLTNKFEDKTVAYTEQKMTSGKIKKFIQENIFGICPHMTEDNKDLI
QGKDLLIAYYDVDYEKNAKGSNYWRNRVMMVAKKFLDAGHKLNFAVASRKTFSHELSDFGLESTAGEIPVVAIRTAKGEKFVMQEEFSDL
VHRQTASAVVQHMSLGVYGFGCEDSLNHLLNYVWPNVFETSPHVIQAVMGALEGLRVAIGPCRMLQYCLQGLFHPARKVRDVYWKIYNSI

--------------------------------------------------------------

Top

Fusion Protein Functional Features


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/chr15:44059108/chr2:198257912)
- 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: 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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePDIA3chr15:44059108chr2:198257912ENST00000300289+81325_133342.6666666666667506.0DomainThioredoxin 1
TgeneSF3B1chr15:44059108chr2:198257912ENST00000409915071010_1048088.0RepeatNote=HEAT 8
TgeneSF3B1chr15:44059108chr2:198257912ENST00000409915071052_1090088.0RepeatNote=HEAT 9
TgeneSF3B1chr15:44059108chr2:198257912ENST00000409915071122_1160088.0RepeatNote=HEAT 10
TgeneSF3B1chr15:44059108chr2:198257912ENST00000409915071163_1201088.0RepeatNote=HEAT 11
TgeneSF3B1chr15:44059108chr2:198257912ENST0000040991507569_603088.0RepeatNote=HEAT 2
TgeneSF3B1chr15:44059108chr2:198257912ENST0000040991507604_641088.0RepeatNote=HEAT 3
TgeneSF3B1chr15:44059108chr2:198257912ENST0000040991507643_677088.0RepeatNote=HEAT 4
TgeneSF3B1chr15:44059108chr2:198257912ENST0000040991507680_718088.0RepeatNote=HEAT 5
TgeneSF3B1chr15:44059108chr2:198257912ENST0000040991507763_801088.0RepeatNote=HEAT 6
TgeneSF3B1chr15:44059108chr2:198257912ENST0000040991507843_881088.0RepeatNote=HEAT 7
TgeneSF3B1chr15:44059108chr2:198257912ENST00000414963051010_10480145.0RepeatNote=HEAT 8
TgeneSF3B1chr15:44059108chr2:198257912ENST00000414963051052_10900145.0RepeatNote=HEAT 9
TgeneSF3B1chr15:44059108chr2:198257912ENST00000414963051122_11600145.0RepeatNote=HEAT 10
TgeneSF3B1chr15:44059108chr2:198257912ENST00000414963051163_12010145.0RepeatNote=HEAT 11
TgeneSF3B1chr15:44059108chr2:198257912ENST0000041496305569_6030145.0RepeatNote=HEAT 2
TgeneSF3B1chr15:44059108chr2:198257912ENST0000041496305604_6410145.0RepeatNote=HEAT 3
TgeneSF3B1chr15:44059108chr2:198257912ENST0000041496305643_6770145.0RepeatNote=HEAT 4
TgeneSF3B1chr15:44059108chr2:198257912ENST0000041496305680_7180145.0RepeatNote=HEAT 5
TgeneSF3B1chr15:44059108chr2:198257912ENST0000041496305763_8010145.0RepeatNote=HEAT 6
TgeneSF3B1chr15:44059108chr2:198257912ENST0000041496305843_8810145.0RepeatNote=HEAT 7

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePDIA3chr15:44059108chr2:198257912ENST00000300289+813343_485342.6666666666667506.0DomainThioredoxin 2
HgenePDIA3chr15:44059108chr2:198257912ENST00000300289+813502_505342.6666666666667506.0MotifPrevents secretion from ER
TgeneSF3B1chr15:44059108chr2:198257912ENST0000033550822251010_10481179.66666666666671305.0RepeatNote=HEAT 8
TgeneSF3B1chr15:44059108chr2:198257912ENST0000033550822251052_10901179.66666666666671305.0RepeatNote=HEAT 9
TgeneSF3B1chr15:44059108chr2:198257912ENST0000033550822251122_11601179.66666666666671305.0RepeatNote=HEAT 10
TgeneSF3B1chr15:44059108chr2:198257912ENST0000033550822251163_12011179.66666666666671305.0RepeatNote=HEAT 11
TgeneSF3B1chr15:44059108chr2:198257912ENST000003355082225569_6031179.66666666666671305.0RepeatNote=HEAT 2
TgeneSF3B1chr15:44059108chr2:198257912ENST000003355082225604_6411179.66666666666671305.0RepeatNote=HEAT 3
TgeneSF3B1chr15:44059108chr2:198257912ENST000003355082225643_6771179.66666666666671305.0RepeatNote=HEAT 4
TgeneSF3B1chr15:44059108chr2:198257912ENST000003355082225680_7181179.66666666666671305.0RepeatNote=HEAT 5
TgeneSF3B1chr15:44059108chr2:198257912ENST000003355082225763_8011179.66666666666671305.0RepeatNote=HEAT 6
TgeneSF3B1chr15:44059108chr2:198257912ENST000003355082225843_8811179.66666666666671305.0RepeatNote=HEAT 7


Top

Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
PDIA3
SF3B1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneSF3B1chr15:44059108chr2:198257912ENST0000033550822251156_11571179.66666666666671305.0PHF5A
TgeneSF3B1chr15:44059108chr2:198257912ENST000003355082225547_5501179.66666666666671305.0PHF5A
TgeneSF3B1chr15:44059108chr2:198257912ENST000003355082225223_4911179.66666666666671305.0PPP1R8
TgeneSF3B1chr15:44059108chr2:198257912ENST000003355082225529_5681179.66666666666671305.0SF3B14


Top

Related Drugs to PDIA3-SF3B1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to PDIA3-SF3B1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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