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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:POLR3H-ACO2 (FusionGDB2 ID:HG171568TG50) |
Fusion Gene Summary for POLR3H-ACO2 |
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Fusion gene information | Fusion gene name: POLR3H-ACO2 | Fusion gene ID: hg171568tg50 | Hgene | Tgene | Gene symbol | POLR3H | ACO2 | Gene ID | 171568 | 50 |
Gene name | RNA polymerase III subunit H | aconitase 2 | |
Synonyms | C25|RPC22.9|RPC8 | ACONM|HEL-S-284|ICRD|OCA8|OPA9 | |
Cytomap | ('POLR3H')('ACO2') 22q13.2 | 22q13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | DNA-directed RNA polymerase III subunit RPC8DNA-directed RNA polymerase III subunit 22.9 kDa polypeptideDNA-directed RNA polymerase III subunit HRNA nucleotidyltransferase (DNA-directed)RNA polymerase III subunit C8polymerase (RNA) III (DNA directed) | aconitate hydratase, mitochondrialaconitase 2, mitochondrialcitrate hydro-lyaseepididymis secretory sperm binding protein Li 284mitochondrial aconitase | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | Q99798 | |
Ensembl transtripts involved in fusion gene | ENST00000337566, ENST00000355209, ENST00000396504, ENST00000407461, ENST00000420561, | ||
Fusion gene scores | * DoF score | 4 X 3 X 5=60 | 13 X 16 X 8=1664 |
# samples | 5 | 18 | |
** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(18/1664*10)=-3.20858662181142 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: POLR3H [Title/Abstract] AND ACO2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | POLR3H(41936702)-ACO2(41914484), # samples:1 POLR3H(41939995)-ACO2(41903795), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | POLR3H-ACO2 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. POLR3H-ACO2 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. POLR3H-ACO2 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. POLR3H-ACO2 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. POLR3H-ACO2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. POLR3H-ACO2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. POLR3H-ACO2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. POLR3H-ACO2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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 | POLR3H | GO:0006139 | nucleobase-containing compound metabolic process | 12391170 |
Hgene | POLR3H | GO:0006383 | transcription by RNA polymerase III | 12391170 |
Tgene | ACO2 | GO:0006099 | tricarboxylic acid cycle | 9630632 |
Tgene | ACO2 | GO:0006101 | citrate metabolic process | 9630632 |
![]() * 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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![]() * 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 | BLCA | TCGA-BT-A20V-01A | POLR3H | chr22 | 41939995 | - | ACO2 | chr22 | 41903795 | + |
ChimerDB4 | OV | TCGA-20-1685 | POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + |
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Fusion Gene ORF analysis for POLR3H-ACO2 |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-3UTR | ENST00000337566 | ENST00000466237 | POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + |
5CDS-3UTR | ENST00000355209 | ENST00000466237 | POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + |
5CDS-3UTR | ENST00000396504 | ENST00000466237 | POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + |
5CDS-3UTR | ENST00000407461 | ENST00000466237 | POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + |
5CDS-intron | ENST00000337566 | ENST00000466237 | POLR3H | chr22 | 41939995 | - | ACO2 | chr22 | 41903795 | + |
5CDS-intron | ENST00000355209 | ENST00000466237 | POLR3H | chr22 | 41939995 | - | ACO2 | chr22 | 41903795 | + |
5CDS-intron | ENST00000396504 | ENST00000466237 | POLR3H | chr22 | 41939995 | - | ACO2 | chr22 | 41903795 | + |
5CDS-intron | ENST00000407461 | ENST00000466237 | POLR3H | chr22 | 41939995 | - | ACO2 | chr22 | 41903795 | + |
5UTR-3CDS | ENST00000420561 | ENST00000216254 | POLR3H | chr22 | 41939995 | - | ACO2 | chr22 | 41903795 | + |
5UTR-3CDS | ENST00000420561 | ENST00000396512 | POLR3H | chr22 | 41939995 | - | ACO2 | chr22 | 41903795 | + |
5UTR-intron | ENST00000420561 | ENST00000466237 | POLR3H | chr22 | 41939995 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000337566 | ENST00000216254 | POLR3H | chr22 | 41939995 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000337566 | ENST00000396512 | POLR3H | chr22 | 41939995 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000355209 | ENST00000216254 | POLR3H | chr22 | 41939995 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000355209 | ENST00000396512 | POLR3H | chr22 | 41939995 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000396504 | ENST00000216254 | POLR3H | chr22 | 41939995 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000396504 | ENST00000396512 | POLR3H | chr22 | 41939995 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000407461 | ENST00000216254 | POLR3H | chr22 | 41939995 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000407461 | ENST00000216254 | POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + |
Frame-shift | ENST00000407461 | ENST00000396512 | POLR3H | chr22 | 41939995 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000407461 | ENST00000396512 | POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + |
In-frame | ENST00000337566 | ENST00000216254 | POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + |
In-frame | ENST00000337566 | ENST00000396512 | POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + |
In-frame | ENST00000355209 | ENST00000216254 | POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + |
In-frame | ENST00000355209 | ENST00000396512 | POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + |
In-frame | ENST00000396504 | ENST00000216254 | POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + |
In-frame | ENST00000396504 | ENST00000396512 | POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + |
intron-3CDS | ENST00000420561 | ENST00000216254 | POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + |
intron-3CDS | ENST00000420561 | ENST00000396512 | POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + |
intron-3UTR | ENST00000420561 | ENST00000466237 | POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for POLR3H-ACO2 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + | 2.88E-05 | 0.9999713 |
POLR3H | chr22 | 41939994 | - | ACO2 | chr22 | 41903794 | + | 2.86E-14 | 1 |
POLR3H | chr22 | 41936702 | - | ACO2 | chr22 | 41914484 | + | 2.88E-05 | 0.9999713 |
POLR3H | chr22 | 41939994 | - | ACO2 | chr22 | 41903794 | + | 2.86E-14 | 1 |
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Fusion Protein Features for POLR3H-ACO2 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr22:41936702/chr22:41914484) - 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 |
. | ACO2 |
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: Catalyzes the isomerization of citrate to isocitrate via cis-aconitate. {ECO:0000250|UniProtKB:P16276}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Tgene | ACO2 | chr22:41936702 | chr22:41914484 | ENST00000216254 | 6 | 18 | 670_671 | 313 | 781.0 | Region | Substrate binding |
- In-frame and 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 |
Tgene | ACO2 | chr22:41936702 | chr22:41914484 | ENST00000216254 | 6 | 18 | 192_194 | 313 | 781.0 | Region | Substrate binding |
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Fusion Gene Sequence for POLR3H-ACO2 |
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Fusion Gene PPI Analysis for POLR3H-ACO2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for POLR3H-ACO2 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for POLR3H-ACO2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | POLR3H | C0685837 | Pure Gonadal Dysgenesis, 46, XX | 1 | ORPHANET |
Hgene | POLR3H | C0949595 | Gonadal Dysgenesis, 46,XX | 1 | ORPHANET |
Tgene | C3281192 | INFANTILE CEREBELLAR-RETINAL DEGENERATION | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C4225384 | OPTIC ATROPHY 9 | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human | |
Tgene | C2239176 | Liver carcinoma | 1 | CTD_human |