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Fusion Protein:PIAS1-DTNBP1 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: PIAS1-DTNBP1 | FusionPDB ID: 65095 | FusionGDB2.0 ID: 65095 | Hgene | Tgene | Gene symbol | PIAS1 | DTNBP1 | Gene ID | 8554 | 84062 |
Gene name | protein inhibitor of activated STAT 1 | dystrobrevin binding protein 1 | |
Synonyms | DDXBP1|GBP|GU/RH-II|ZMIZ3 | BLOC1S8|DBND|HPS7|My031|SDY | |
Cytomap | 15q23 | 6p22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | E3 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 pr | dysbindinBLOC-1 subunit 8Hermansky-Pudlak syndrome 7 proteinbiogenesis of lysosomal organelles complex-1, subunit 8biogenesis of lysosome-related organelles complex 1 subunit 8dysbindin-1 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | Q96EV8 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000249636, ENST00000545237, ENST00000567417, | ENST00000338950, ENST00000344537, ENST00000355917, ENST00000462989, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 13 X 12 X 7=1092 | 15 X 8 X 9=1080 |
# samples | 15 | 17 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PIAS1 | GO:0016925 | protein sumoylation | 18579533 |
Hgene | PIAS1 | GO:0033235 | positive regulation of protein sumoylation | 17696781|21965678 |
Tgene | DTNBP1 | GO:0031175 | neuron projection development | 16980328 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | STAD | TCGA-BR-6453 | PIAS1 | chr15 | 68379088 | + | DTNBP1 | chr6 | 15533626 | - |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000249636 | PIAS1 | chr15 | 68379088 | + | ENST00000344537 | DTNBP1 | chr6 | 15533626 | - | 1336 | 617 | 148 | 1161 | 337 |
ENST00000249636 | PIAS1 | chr15 | 68379088 | + | ENST00000355917 | DTNBP1 | chr6 | 15533626 | - | 1327 | 617 | 148 | 1161 | 337 |
ENST00000249636 | PIAS1 | chr15 | 68379088 | + | ENST00000338950 | DTNBP1 | chr6 | 15533626 | - | 1880 | 617 | 148 | 1017 | 289 |
ENST00000249636 | PIAS1 | chr15 | 68379088 | + | ENST00000462989 | DTNBP1 | chr6 | 15533626 | - | 1330 | 617 | 148 | 1161 | 337 |
ENST00000545237 | PIAS1 | chr15 | 68379088 | + | ENST00000344537 | DTNBP1 | chr6 | 15533626 | - | 1935 | 1216 | 741 | 1760 | 339 |
ENST00000545237 | PIAS1 | chr15 | 68379088 | + | ENST00000355917 | DTNBP1 | chr6 | 15533626 | - | 1926 | 1216 | 741 | 1760 | 339 |
ENST00000545237 | PIAS1 | chr15 | 68379088 | + | ENST00000338950 | DTNBP1 | chr6 | 15533626 | - | 2479 | 1216 | 741 | 1616 | 291 |
ENST00000545237 | PIAS1 | chr15 | 68379088 | + | ENST00000462989 | DTNBP1 | chr6 | 15533626 | - | 1929 | 1216 | 741 | 1760 | 339 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000249636 | ENST00000344537 | PIAS1 | chr15 | 68379088 | + | DTNBP1 | chr6 | 15533626 | - | 0.005456151 | 0.9945438 |
ENST00000249636 | ENST00000355917 | PIAS1 | chr15 | 68379088 | + | DTNBP1 | chr6 | 15533626 | - | 0.005379654 | 0.9946203 |
ENST00000249636 | ENST00000338950 | PIAS1 | chr15 | 68379088 | + | DTNBP1 | chr6 | 15533626 | - | 0.005051066 | 0.99494886 |
ENST00000249636 | ENST00000462989 | PIAS1 | chr15 | 68379088 | + | DTNBP1 | chr6 | 15533626 | - | 0.005344287 | 0.9946557 |
ENST00000545237 | ENST00000344537 | PIAS1 | chr15 | 68379088 | + | DTNBP1 | chr6 | 15533626 | - | 0.003478505 | 0.9965215 |
ENST00000545237 | ENST00000355917 | PIAS1 | chr15 | 68379088 | + | DTNBP1 | chr6 | 15533626 | - | 0.003468783 | 0.9965312 |
ENST00000545237 | ENST00000338950 | PIAS1 | chr15 | 68379088 | + | DTNBP1 | chr6 | 15533626 | - | 0.005746404 | 0.9942536 |
ENST00000545237 | ENST00000462989 | PIAS1 | chr15 | 68379088 | + | DTNBP1 | chr6 | 15533626 | - | 0.003370075 | 0.9966299 |
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Fusion Amino Acid Sequences |
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>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 |
![]() 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. |
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Hgene | Tgene |
. | DTNBP1 |
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}. |
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- Retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | PIAS1 | chr15:68379088 | chr6:15533626 | ENST00000249636 | + | 2 | 14 | 11_45 | 156.33333333333334 | 652.0 | Domain | SAP |
Hgene | PIAS1 | chr15:68379088 | chr6:15533626 | ENST00000249636 | + | 2 | 14 | 19_23 | 156.33333333333334 | 652.0 | Motif | Note=LXXLL motif |
Hgene | PIAS1 | chr15:68379088 | chr6:15533626 | ENST00000249636 | + | 2 | 14 | 56_64 | 156.33333333333334 | 652.0 | Motif | Nuclear localization signal |
Tgene | DTNBP1 | chr15:68379088 | chr6:15533626 | ENST00000338950 | 6 | 9 | 173_331 | 170.33333333333334 | 304.0 | Region | Note=Dysbindin | |
Tgene | DTNBP1 | chr15:68379088 | chr6:15533626 | ENST00000344537 | 6 | 10 | 173_331 | 170.33333333333334 | 352.0 | Region | Note=Dysbindin |
- Not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | PIAS1 | chr15:68379088 | chr6:15533626 | ENST00000249636 | + | 2 | 14 | 577_634 | 156.33333333333334 | 652.0 | Compositional bias | Note=Ser-rich |
Hgene | PIAS1 | chr15:68379088 | chr6:15533626 | ENST00000249636 | + | 2 | 14 | 124_288 | 156.33333333333334 | 652.0 | Domain | PINIT |
Hgene | PIAS1 | chr15:68379088 | chr6:15533626 | ENST00000249636 | + | 2 | 14 | 368_380 | 156.33333333333334 | 652.0 | Motif | Nuclear localization signal |
Hgene | PIAS1 | chr15:68379088 | chr6:15533626 | ENST00000249636 | + | 2 | 14 | 462_473 | 156.33333333333334 | 652.0 | Region | SUMO1-binding |
Hgene | PIAS1 | chr15:68379088 | chr6:15533626 | ENST00000249636 | + | 2 | 14 | 520_615 | 156.33333333333334 | 652.0 | Region | Note=4 X 4 AA repeats of N-T-S-L |
Hgene | PIAS1 | chr15:68379088 | chr6:15533626 | ENST00000249636 | + | 2 | 14 | 520_523 | 156.33333333333334 | 652.0 | Repeat | Note=1 |
Hgene | PIAS1 | chr15:68379088 | chr6:15533626 | ENST00000249636 | + | 2 | 14 | 557_560 | 156.33333333333334 | 652.0 | Repeat | Note=2 |
Hgene | PIAS1 | chr15:68379088 | chr6:15533626 | ENST00000249636 | + | 2 | 14 | 598_601 | 156.33333333333334 | 652.0 | Repeat | Note=3%3B approximate |
Hgene | PIAS1 | chr15:68379088 | chr6:15533626 | ENST00000249636 | + | 2 | 14 | 612_615 | 156.33333333333334 | 652.0 | Repeat | Note=4%3B approximate |
Hgene | PIAS1 | chr15:68379088 | chr6:15533626 | ENST00000249636 | + | 2 | 14 | 320_397 | 156.33333333333334 | 652.0 | Zinc finger | SP-RING-type |
Tgene | DTNBP1 | chr15:68379088 | chr6:15533626 | ENST00000338950 | 6 | 9 | 88_181 | 170.33333333333334 | 304.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | DTNBP1 | chr15:68379088 | chr6:15533626 | ENST00000344537 | 6 | 10 | 88_181 | 170.33333333333334 | 352.0 | Coiled coil | Ontology_term=ECO:0000255 |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
PIAS1 | |
DTNBP1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to PIAS1-DTNBP1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to PIAS1-DTNBP1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |