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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:P3H4-ACLY (FusionGDB2 ID:HG10609TG47) |
Fusion Gene Summary for P3H4-ACLY |
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Fusion gene information | Fusion gene name: P3H4-ACLY | Fusion gene ID: hg10609tg47 | Hgene | Tgene | Gene symbol | P3H4 | ACLY | Gene ID | 10609 | 47 |
Gene name | prolyl 3-hydroxylase family member 4 (inactive) | ATP citrate lyase | |
Synonyms | LEPREL4|NO55|NOL55|SC65 | ACL|ATPCL|CLATP | |
Cytomap | ('LEPREL4','P3H4')('ACLY','ACLY') 17q21.2 | 17q21.2 | |
Type of gene | protein-coding | protein-coding | |
Description | endoplasmic reticulum protein SC65leprecan-like 4leprecan-like protein 4nucleolar autoantigen (55kD)nucleolar autoantigen No55nucleolar autoantigen, 55kDaprolyl 3-hydroxylase family member 4 (non-enzymatic)synaptonemal complex 65synaptonemal compl | ATP-citrate synthaseATP-citrate (pro-S-)-lyasecitrate cleavage enzyme | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | P53396 | |
Ensembl transtripts involved in fusion gene | ENST00000355468, ENST00000393928, | ||
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 13 X 13 X 6=1014 |
# samples | 2 | 15 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(15/1014*10)=-2.75702324650746 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: P3H4 [Title/Abstract] AND ACLY [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | LEPREL4(39963048)-ACLY(40030218), # samples:1 P3H4(39963048)-ACLY(40030218), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | LEPREL4-ACLY 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. LEPREL4-ACLY 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. LEPREL4-ACLY seems lost the major protein functional domain in Tgene partner, which is a cell metabolism 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 |
Tgene | ACLY | GO:0006085 | acetyl-CoA biosynthetic process | 1371749 |
Tgene | ACLY | GO:0006101 | citrate metabolic process | 1371749 |
Tgene | ACLY | GO:0006107 | oxaloacetate metabolic process | 1371749 |
Tgene | ACLY | GO:0008610 | lipid biosynthetic process | 23932781 |
![]() * 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 | UCEC | TCGA-D1-A3JQ-01A | LEPREL4 | chr17 | 39963048 | - | ACLY | chr17 | 40030218 | - |
ChimerDB4 | UCEC | TCGA-D1-A3JQ-01A | P3H4 | chr17 | 39963048 | - | ACLY | chr17 | 40030218 | - |
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Fusion Gene ORF analysis for P3H4-ACLY |
![]() * 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-intron | ENST00000355468 | ENST00000588779 | LEPREL4 | chr17 | 39963048 | - | ACLY | chr17 | 40030218 | - |
5CDS-intron | ENST00000393928 | ENST00000588779 | LEPREL4 | chr17 | 39963048 | - | ACLY | chr17 | 40030218 | - |
Frame-shift | ENST00000355468 | ENST00000352035 | LEPREL4 | chr17 | 39963048 | - | ACLY | chr17 | 40030218 | - |
Frame-shift | ENST00000355468 | ENST00000353196 | LEPREL4 | chr17 | 39963048 | - | ACLY | chr17 | 40030218 | - |
Frame-shift | ENST00000355468 | ENST00000393896 | LEPREL4 | chr17 | 39963048 | - | ACLY | chr17 | 40030218 | - |
Frame-shift | ENST00000355468 | ENST00000537919 | LEPREL4 | chr17 | 39963048 | - | ACLY | chr17 | 40030218 | - |
Frame-shift | ENST00000355468 | ENST00000590151 | LEPREL4 | chr17 | 39963048 | - | ACLY | chr17 | 40030218 | - |
In-frame | ENST00000393928 | ENST00000352035 | LEPREL4 | chr17 | 39963048 | - | ACLY | chr17 | 40030218 | - |
In-frame | ENST00000393928 | ENST00000353196 | LEPREL4 | chr17 | 39963048 | - | ACLY | chr17 | 40030218 | - |
In-frame | ENST00000393928 | ENST00000393896 | LEPREL4 | chr17 | 39963048 | - | ACLY | chr17 | 40030218 | - |
In-frame | ENST00000393928 | ENST00000537919 | LEPREL4 | chr17 | 39963048 | - | ACLY | chr17 | 40030218 | - |
In-frame | ENST00000393928 | ENST00000590151 | LEPREL4 | chr17 | 39963048 | - | ACLY | chr17 | 40030218 | - |
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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 P3H4-ACLY |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for P3H4-ACLY |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:39963048/:40030218) - 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 |
. | ACLY |
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 cleavage of citrate into oxaloacetate and acetyl-CoA, the latter serving as common substrate for de novo cholesterol and fatty acid synthesis. {ECO:0000269|PubMed:10653665, ECO:0000269|PubMed:1371749, ECO:0000269|PubMed:19286649, ECO:0000269|PubMed:23932781, ECO:0000269|PubMed:9116495}. |
![]() * 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 |
- 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 |
Hgene | LEPREL4 | chr17:39963048 | chr17:40030218 | ENST00000355468 | - | 7 | 9 | 346_437 | 382 | 438.0 | Compositional bias | Asp/Glu-rich (acidic) |
Hgene | LEPREL4 | chr17:39963048 | chr17:40030218 | ENST00000393928 | - | 6 | 8 | 346_437 | 382 | 438.0 | Compositional bias | Asp/Glu-rich (acidic) |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000352035 | 21 | 29 | 4_265 | 829 | 1102.0 | Domain | Note=ATP-grasp | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000353196 | 20 | 28 | 4_265 | 819 | 1092.0 | Domain | Note=ATP-grasp | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000393896 | 20 | 28 | 4_265 | 819 | 1092.0 | Domain | Note=ATP-grasp | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000590151 | 21 | 29 | 4_265 | 829 | 1102.0 | Domain | Note=ATP-grasp | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000352035 | 21 | 29 | 109_111 | 829 | 1102.0 | Nucleotide binding | Note=ATP | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000352035 | 21 | 29 | 66_67 | 829 | 1102.0 | Nucleotide binding | Note=ATP | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000352035 | 21 | 29 | 701_721 | 829 | 1102.0 | Nucleotide binding | ATP | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000352035 | 21 | 29 | 752_778 | 829 | 1102.0 | Nucleotide binding | ATP | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000353196 | 20 | 28 | 109_111 | 819 | 1092.0 | Nucleotide binding | Note=ATP | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000353196 | 20 | 28 | 66_67 | 819 | 1092.0 | Nucleotide binding | Note=ATP | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000353196 | 20 | 28 | 701_721 | 819 | 1092.0 | Nucleotide binding | ATP | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000353196 | 20 | 28 | 752_778 | 819 | 1092.0 | Nucleotide binding | ATP | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000393896 | 20 | 28 | 109_111 | 819 | 1092.0 | Nucleotide binding | Note=ATP | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000393896 | 20 | 28 | 66_67 | 819 | 1092.0 | Nucleotide binding | Note=ATP | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000393896 | 20 | 28 | 701_721 | 819 | 1092.0 | Nucleotide binding | ATP | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000393896 | 20 | 28 | 752_778 | 819 | 1092.0 | Nucleotide binding | ATP | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000590151 | 21 | 29 | 109_111 | 829 | 1102.0 | Nucleotide binding | Note=ATP | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000590151 | 21 | 29 | 66_67 | 829 | 1102.0 | Nucleotide binding | Note=ATP | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000590151 | 21 | 29 | 701_721 | 829 | 1102.0 | Nucleotide binding | ATP | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000590151 | 21 | 29 | 752_778 | 829 | 1102.0 | Nucleotide binding | ATP | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000352035 | 21 | 29 | 779_789 | 829 | 1102.0 | Region | CoA-binding | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000353196 | 20 | 28 | 779_789 | 819 | 1092.0 | Region | CoA-binding | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000393896 | 20 | 28 | 779_789 | 819 | 1092.0 | Region | CoA-binding | |
Tgene | ACLY | chr17:39963048 | chr17:40030218 | ENST00000590151 | 21 | 29 | 779_789 | 829 | 1102.0 | Region | CoA-binding |
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Fusion Gene Sequence for P3H4-ACLY |
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Fusion Gene PPI Analysis for P3H4-ACLY |
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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 P3H4-ACLY |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | ACLY | P53396 | DB11936 | Bempedoic acid | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for P3H4-ACLY |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0018801 | Heart failure | 1 | CTD_human | |
Tgene | C0018802 | Congestive heart failure | 1 | CTD_human | |
Tgene | C0023212 | Left-Sided Heart Failure | 1 | CTD_human | |
Tgene | C0028754 | Obesity | 1 | CTD_human | |
Tgene | C0235527 | Heart Failure, Right-Sided | 1 | CTD_human | |
Tgene | C1959583 | Myocardial Failure | 1 | CTD_human | |
Tgene | C1961112 | Heart Decompensation | 1 | CTD_human | |
Tgene | C2239176 | Liver carcinoma | 1 | CTD_human |