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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:PIAS1-DTNBP1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PIAS1-DTNBP1
FusionPDB ID: 65095
FusionGDB2.0 ID: 65095
HgeneTgene
Gene symbol

PIAS1

DTNBP1

Gene ID

8554

84062

Gene nameprotein inhibitor of activated STAT 1dystrobrevin binding protein 1
SynonymsDDXBP1|GBP|GU/RH-II|ZMIZ3BLOC1S8|DBND|HPS7|My031|SDY
Cytomap

15q23

6p22.3

Type of geneprotein-codingprotein-coding
DescriptionE3 SUMO-protein ligase PIAS1AR interacting proteinDEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1DEAD/H box-binding protein 1E3 SUMO-protein transferase PIAS1RNA helicase II-binding proteingu-binding proteinprotein inhibitor of activated STAT prdysbindinBLOC-1 subunit 8Hermansky-Pudlak syndrome 7 proteinbiogenesis of lysosomal organelles complex-1, subunit 8biogenesis of lysosome-related organelles complex 1 subunit 8dysbindin-1
Modification date2020031320200313
UniProtAcc.

Q96EV8

Ensembl transtripts involved in fusion geneENST idsENST00000249636, ENST00000545237, 
ENST00000567417, 
ENST00000338950, 
ENST00000344537, ENST00000355917, 
ENST00000462989, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 12 X 7=109215 X 8 X 9=1080
# samples 1517
** MAII scorelog2(15/1092*10)=-2.86393845042397
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/1080*10)=-2.66742466091313
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: PIAS1 [Title/Abstract] AND DTNBP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PIAS1(68379088)-DTNBP1(15533626), # samples:1
Anticipated loss of major functional domain due to fusion event.PIAS1-DTNBP1 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.
PIAS1-DTNBP1 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.
PIAS1-DTNBP1 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.
PIAS1-DTNBP1 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
HgenePIAS1

GO:0016925

protein sumoylation

18579533

HgenePIAS1

GO:0033235

positive regulation of protein sumoylation

17696781|21965678

TgeneDTNBP1

GO:0031175

neuron projection development

16980328


check buttonFusion gene breakpoints across PIAS1 (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 DTNBP1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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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
ChimerDB4STADTCGA-BR-6453PIAS1chr15

68379088

+DTNBP1chr6

15533626

-


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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)
ENST00000249636PIAS1chr1568379088+ENST00000344537DTNBP1chr615533626-13366171481161337
ENST00000249636PIAS1chr1568379088+ENST00000355917DTNBP1chr615533626-13276171481161337
ENST00000249636PIAS1chr1568379088+ENST00000338950DTNBP1chr615533626-18806171481017289
ENST00000249636PIAS1chr1568379088+ENST00000462989DTNBP1chr615533626-13306171481161337
ENST00000545237PIAS1chr1568379088+ENST00000344537DTNBP1chr615533626-193512167411760339
ENST00000545237PIAS1chr1568379088+ENST00000355917DTNBP1chr615533626-192612167411760339
ENST00000545237PIAS1chr1568379088+ENST00000338950DTNBP1chr615533626-247912167411616291
ENST00000545237PIAS1chr1568379088+ENST00000462989DTNBP1chr615533626-192912167411760339

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
ENST00000249636ENST00000344537PIAS1chr1568379088+DTNBP1chr615533626-0.0054561510.9945438
ENST00000249636ENST00000355917PIAS1chr1568379088+DTNBP1chr615533626-0.0053796540.9946203
ENST00000249636ENST00000338950PIAS1chr1568379088+DTNBP1chr615533626-0.0050510660.99494886
ENST00000249636ENST00000462989PIAS1chr1568379088+DTNBP1chr615533626-0.0053442870.9946557
ENST00000545237ENST00000344537PIAS1chr1568379088+DTNBP1chr615533626-0.0034785050.9965215
ENST00000545237ENST00000355917PIAS1chr1568379088+DTNBP1chr615533626-0.0034687830.9965312
ENST00000545237ENST00000338950PIAS1chr1568379088+DTNBP1chr615533626-0.0057464040.9942536
ENST00000545237ENST00000462989PIAS1chr1568379088+DTNBP1chr615533626-0.0033700750.9966299

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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

>65095_65095_1_PIAS1-DTNBP1_PIAS1_chr15_68379088_ENST00000249636_DTNBP1_chr6_15533626_ENST00000338950_length(amino acids)=289AA_BP=154
MADSAELKQMVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKELYRRRFPQKIMTPADLSIPNVHSSPMPATLS
PSTIPQLTYDGHPASSPLLPVSLLGPKHELELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLAELDAEHAQKVLEMEHTQQMKLKE
RQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGRVDKLALAEPGQY

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

>65095_65095_2_PIAS1-DTNBP1_PIAS1_chr15_68379088_ENST00000249636_DTNBP1_chr6_15533626_ENST00000344537_length(amino acids)=337AA_BP=154
MADSAELKQMVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKELYRRRFPQKIMTPADLSIPNVHSSPMPATLS
PSTIPQLTYDGHPASSPLLPVSLLGPKHELELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLAELDAEHAQKVLEMEHTQQMKLKE
RQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEITLQ

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

>65095_65095_3_PIAS1-DTNBP1_PIAS1_chr15_68379088_ENST00000249636_DTNBP1_chr6_15533626_ENST00000355917_length(amino acids)=337AA_BP=154
MADSAELKQMVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKELYRRRFPQKIMTPADLSIPNVHSSPMPATLS
PSTIPQLTYDGHPASSPLLPVSLLGPKHELELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLAELDAEHAQKVLEMEHTQQMKLKE
RQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEITLQ

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

>65095_65095_4_PIAS1-DTNBP1_PIAS1_chr15_68379088_ENST00000249636_DTNBP1_chr6_15533626_ENST00000462989_length(amino acids)=337AA_BP=154
MADSAELKQMVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKELYRRRFPQKIMTPADLSIPNVHSSPMPATLS
PSTIPQLTYDGHPASSPLLPVSLLGPKHELELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLAELDAEHAQKVLEMEHTQQMKLKE
RQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEITLQ

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

>65095_65095_5_PIAS1-DTNBP1_PIAS1_chr15_68379088_ENST00000545237_DTNBP1_chr6_15533626_ENST00000338950_length(amino acids)=291AA_BP=156
MFTLQDSYVKQMVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKELYRRRFPQKIMTPADLSIPNVHSSPMPAT
LSPSTIPQLTYDGHPASSPLLPVSLLGPKHELELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLAELDAEHAQKVLEMEHTQQMKL
KERQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGRVDKLALAEPG

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

>65095_65095_6_PIAS1-DTNBP1_PIAS1_chr15_68379088_ENST00000545237_DTNBP1_chr6_15533626_ENST00000344537_length(amino acids)=339AA_BP=156
MFTLQDSYVKQMVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKELYRRRFPQKIMTPADLSIPNVHSSPMPAT
LSPSTIPQLTYDGHPASSPLLPVSLLGPKHELELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLAELDAEHAQKVLEMEHTQQMKL
KERQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEIT

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

>65095_65095_7_PIAS1-DTNBP1_PIAS1_chr15_68379088_ENST00000545237_DTNBP1_chr6_15533626_ENST00000355917_length(amino acids)=339AA_BP=156
MFTLQDSYVKQMVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKELYRRRFPQKIMTPADLSIPNVHSSPMPAT
LSPSTIPQLTYDGHPASSPLLPVSLLGPKHELELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLAELDAEHAQKVLEMEHTQQMKL
KERQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEIT

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

>65095_65095_8_PIAS1-DTNBP1_PIAS1_chr15_68379088_ENST00000545237_DTNBP1_chr6_15533626_ENST00000462989_length(amino acids)=339AA_BP=156
MFTLQDSYVKQMVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKELYRRRFPQKIMTPADLSIPNVHSSPMPAT
LSPSTIPQLTYDGHPASSPLLPVSLLGPKHELELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLAELDAEHAQKVLEMEHTQQMKL
KERQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEIT

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

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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/chr15:68379088/chr6:15533626)
- 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
.DTNBP1

Q96EV8

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: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3 function. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. Plays a role in the regulation of cell surface exposure of DRD2. May play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation. Appears to promote neuronal transmission and viability through regulating the expression of SNAP25 and SYN1, modulating PI3-kinase-Akt signaling and influencing glutamatergic release. Regulates the expression of SYN1 through binding to its promoter. Modulates prefrontal cortical activity via the dopamine/D2 pathway. {ECO:0000269|PubMed:15345706, ECO:0000269|PubMed:16837549, ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:17989303, ECO:0000269|PubMed:19094965, ECO:0000269|PubMed:20180862, ECO:0000269|PubMed:20921223}.

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
HgenePIAS1chr15:68379088chr6:15533626ENST00000249636+21411_45156.33333333333334652.0DomainSAP
HgenePIAS1chr15:68379088chr6:15533626ENST00000249636+21419_23156.33333333333334652.0MotifNote=LXXLL motif
HgenePIAS1chr15:68379088chr6:15533626ENST00000249636+21456_64156.33333333333334652.0MotifNuclear localization signal
TgeneDTNBP1chr15:68379088chr6:15533626ENST0000033895069173_331170.33333333333334304.0RegionNote=Dysbindin
TgeneDTNBP1chr15:68379088chr6:15533626ENST00000344537610173_331170.33333333333334352.0RegionNote=Dysbindin

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePIAS1chr15:68379088chr6:15533626ENST00000249636+214577_634156.33333333333334652.0Compositional biasNote=Ser-rich
HgenePIAS1chr15:68379088chr6:15533626ENST00000249636+214124_288156.33333333333334652.0DomainPINIT
HgenePIAS1chr15:68379088chr6:15533626ENST00000249636+214368_380156.33333333333334652.0MotifNuclear localization signal
HgenePIAS1chr15:68379088chr6:15533626ENST00000249636+214462_473156.33333333333334652.0RegionSUMO1-binding
HgenePIAS1chr15:68379088chr6:15533626ENST00000249636+214520_615156.33333333333334652.0RegionNote=4 X 4 AA repeats of N-T-S-L
HgenePIAS1chr15:68379088chr6:15533626ENST00000249636+214520_523156.33333333333334652.0RepeatNote=1
HgenePIAS1chr15:68379088chr6:15533626ENST00000249636+214557_560156.33333333333334652.0RepeatNote=2
HgenePIAS1chr15:68379088chr6:15533626ENST00000249636+214598_601156.33333333333334652.0RepeatNote=3%3B approximate
HgenePIAS1chr15:68379088chr6:15533626ENST00000249636+214612_615156.33333333333334652.0RepeatNote=4%3B approximate
HgenePIAS1chr15:68379088chr6:15533626ENST00000249636+214320_397156.33333333333334652.0Zinc fingerSP-RING-type
TgeneDTNBP1chr15:68379088chr6:15533626ENST000003389506988_181170.33333333333334304.0Coiled coilOntology_term=ECO:0000255
TgeneDTNBP1chr15:68379088chr6:15533626ENST0000034453761088_181170.33333333333334352.0Coiled coilOntology_term=ECO:0000255


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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
PIAS1
DTNBP1


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


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Related Drugs to PIAS1-DTNBP1


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

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Related Diseases to PIAS1-DTNBP1


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