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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:ATAD3A-RUVBL1 (FusionGDB2 ID:HG55210TG8607) |
Fusion Gene Summary for ATAD3A-RUVBL1 |
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Fusion gene information | Fusion gene name: ATAD3A-RUVBL1 | Fusion gene ID: hg55210tg8607 | Hgene | Tgene | Gene symbol | ATAD3A | RUVBL1 | Gene ID | 55210 | 8607 |
Gene name | ATPase family AAA domain containing 3A | RuvB like AAA ATPase 1 | |
Synonyms | HAYOS | ECP-54|ECP54|INO80H|NMP 238|NMP238|PONTIN|Pontin52|RVB1|TIH1|TIP49|TIP49A | |
Cytomap | ('ATAD3A')('RUVBL1') 1p36.33 | 3q21.3 | |
Type of gene | protein-coding | protein-coding | |
Description | ATPase family AAA domain-containing protein 3A | ruvB-like 149 kDa TATA box-binding protein-interacting protein49 kDa TBP-interacting protein54 kDa erythrocyte cytosolic proteinINO80 complex subunit HRuvB (E coli homolog)-like 1RuvB-like AAA ATPaseTAP54-alphaTATA binding protein interacting prot | |
Modification date | 20200320 | 20200327 | |
UniProtAcc | Q9NVI7 | . | |
Ensembl transtripts involved in fusion gene | ENST00000378755, ENST00000378756, ENST00000536055, | ||
Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 17 X 14 X 4=952 |
# samples | 4 | 17 | |
** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(17/952*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ATAD3A [Title/Abstract] AND RUVBL1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ATAD3A(1469657)-RUVBL1(127823768), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 | RUVBL1 | GO:0043967 | histone H4 acetylation | 14966270 |
Tgene | RUVBL1 | GO:0043968 | histone H2A acetylation | 14966270 |
Tgene | RUVBL1 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 11080158 |
![]() * 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 |
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Fusion Gene ORF analysis for ATAD3A-RUVBL1 |
![]() * 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 |
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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 ATAD3A-RUVBL1 |
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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 ATAD3A-RUVBL1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:1469657/:127823768) - 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 |
ATAD3A | . |
FUNCTION: Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level. May play an important role in mitochondrial protein synthesis. May also participate in mitochondrial DNA replication. May bind to mitochondrial DNA D-loops and contribute to nucleoid stability. Required for enhanced channeling of cholesterol for hormone-dependent steroidogenesis. Involved in mitochondrial-mediated antiviral innate immunity (PubMed:31522117). {ECO:0000269|PubMed:17210950, ECO:0000269|PubMed:20154147, ECO:0000269|PubMed:22453275, ECO:0000269|PubMed:31522117}. | 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}. |
![]() * 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 |
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Fusion Gene Sequence for ATAD3A-RUVBL1 |
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Fusion Gene PPI Analysis for ATAD3A-RUVBL1 |
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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 ATAD3A-RUVBL1 |
![]() (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 ATAD3A-RUVBL1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ATAD3A | C4310677 | HAREL-YOON SYNDROME | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | ATAD3A | C0001125 | Acidosis, Lactic | 1 | GENOMICS_ENGLAND |
Hgene | ATAD3A | C0007194 | Hypertrophic Cardiomyopathy | 1 | GENOMICS_ENGLAND |
Hgene | ATAD3A | C0026847 | Spinal Muscular Atrophy | 1 | GENOMICS_ENGLAND |
Hgene | ATAD3A | C0029124 | Optic Atrophy | 1 | GENOMICS_ENGLAND |
Hgene | ATAD3A | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | ATAD3A | C0036439 | Scoliosis, unspecified | 1 | GENOMICS_ENGLAND |
Hgene | ATAD3A | C0266470 | Cerebellar Hypoplasia | 1 | GENOMICS_ENGLAND |
Hgene | ATAD3A | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |