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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:MCM3AP-DNAJB12 (FusionGDB2 ID:52217) |
Fusion Gene Summary for MCM3AP-DNAJB12 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MCM3AP-DNAJB12 | Fusion gene ID: 52217 | Hgene | Tgene | Gene symbol | MCM3AP | DNAJB12 | Gene ID | 8888 | 54788 |
| Gene name | minichromosome maintenance complex component 3 associated protein | DnaJ heat shock protein family (Hsp40) member B12 | |
| Synonyms | GANP|MAP80|PNRIID|SAC3 | DJ10 | |
| Cytomap | 21q22.3 | 10q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | germinal-center associated nuclear protein80 kDa MCM3-associated proteinMCM3 acetylating proteinMCM3 acetyltransferaseMCM3 import proteinMCM3 minichromosome maintenance deficient 3 associated proteingerminal center-associated nuclear proteingermina | dnaJ homolog subfamily B member 12DnaJ (Hsp40) homolog, subfamily B, member 12 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | O60318 | Q9NXW2 | |
| Ensembl transtripts involved in fusion gene | ENST00000291688, ENST00000397708, ENST00000467026, | ENST00000338820, ENST00000394903, ENST00000444643, ENST00000461919, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 7 X 5 X 6=210 |
| # samples | 3 | 8 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/210*10)=-1.39231742277876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MCM3AP [Title/Abstract] AND DNAJB12 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | MCM3AP(47687548)-DNAJB12(74106474), # 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | MCM3AP | GO:0016446 | somatic hypermutation of immunoglobulin genes | 23652018 |
| Hgene | MCM3AP | GO:0034728 | nucleosome organization | 23652018 |
| Tgene | DNAJB12 | GO:0034622 | cellular protein-containing complex assembly | 27916661 |
| Tgene | DNAJB12 | GO:0036503 | ERAD pathway | 21148293|21150129 |
| Tgene | DNAJB12 | GO:0051085 | chaperone cofactor-dependent protein refolding | 27916661 |
| Tgene | DNAJB12 | GO:0071218 | cellular response to misfolded protein | 21148293|21150129 |
| Fusion gene breakpoints across MCM3AP (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across DNAJB12 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS5.0 | N/A | EI791699 | MCM3AP | chr21 | 47687548 | - | DNAJB12 | chr10 | 74106474 | + |
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Fusion Gene ORF analysis for MCM3AP-DNAJB12 |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * 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 |
| intron-intron | ENST00000291688 | ENST00000338820 | MCM3AP | chr21 | 47687548 | - | DNAJB12 | chr10 | 74106474 | + |
| intron-intron | ENST00000291688 | ENST00000394903 | MCM3AP | chr21 | 47687548 | - | DNAJB12 | chr10 | 74106474 | + |
| intron-intron | ENST00000291688 | ENST00000444643 | MCM3AP | chr21 | 47687548 | - | DNAJB12 | chr10 | 74106474 | + |
| intron-intron | ENST00000291688 | ENST00000461919 | MCM3AP | chr21 | 47687548 | - | DNAJB12 | chr10 | 74106474 | + |
| intron-intron | ENST00000397708 | ENST00000338820 | MCM3AP | chr21 | 47687548 | - | DNAJB12 | chr10 | 74106474 | + |
| intron-intron | ENST00000397708 | ENST00000394903 | MCM3AP | chr21 | 47687548 | - | DNAJB12 | chr10 | 74106474 | + |
| intron-intron | ENST00000397708 | ENST00000444643 | MCM3AP | chr21 | 47687548 | - | DNAJB12 | chr10 | 74106474 | + |
| intron-intron | ENST00000397708 | ENST00000461919 | MCM3AP | chr21 | 47687548 | - | DNAJB12 | chr10 | 74106474 | + |
| intron-intron | ENST00000467026 | ENST00000338820 | MCM3AP | chr21 | 47687548 | - | DNAJB12 | chr10 | 74106474 | + |
| intron-intron | ENST00000467026 | ENST00000394903 | MCM3AP | chr21 | 47687548 | - | DNAJB12 | chr10 | 74106474 | + |
| intron-intron | ENST00000467026 | ENST00000444643 | MCM3AP | chr21 | 47687548 | - | DNAJB12 | chr10 | 74106474 | + |
| intron-intron | ENST00000467026 | ENST00000461919 | MCM3AP | chr21 | 47687548 | - | DNAJB12 | chr10 | 74106474 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for MCM3AP-DNAJB12 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for MCM3AP-DNAJB12 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:47687548/:74106474) - 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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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MCM3AP | DNAJB12 |
| FUNCTION: [Isoform GANP]: As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (PubMed:20005110, PubMed:20384790, PubMed:23591820, PubMed:22307388). Through the acetylation of histones, affects the assembly of nucleosomes at immunoglobulin variable region genes and promotes the recruitment and positioning of transcription complex to favor DNA cytosine deaminase AICDA/AID targeting, hence promoting somatic hypermutations (PubMed:23652018). {ECO:0000269|PubMed:20005110, ECO:0000269|PubMed:20384790, ECO:0000269|PubMed:22307388, ECO:0000269|PubMed:23591820, ECO:0000269|PubMed:23652018}.; FUNCTION: [Isoform MCM3AP]: Binds to and acetylates the replication protein MCM3. Plays a role in the initiation of DNA replication and participates in controls that ensure that DNA replication initiates only once per cell cycle (PubMed:11258703, PubMed:12226073). Through the acetylation of histones, affects the assembly of nucleosomes at immunoglobulin variable region genes and promotes the recruitment and positioning of transcription complex to favor DNA cytosine deaminase AICDA/AID targeting, hence promoting somatic hypermutations (PubMed:23652018). {ECO:0000269|PubMed:11258703, ECO:0000269|PubMed:12226073, ECO:0000269|PubMed:23652018}. | FUNCTION: Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum-associated degradation (ERAD) pathway (PubMed:21150129, PubMed:21148293). Acts by determining HSPA8/Hsc70's ATPase and polypeptide-binding activities. Can also act independently of HSPA8/Hsc70: together with DNAJB14, acts as a chaperone that promotes maturation of potassium channels KCND2 and KCNH2 by stabilizing nascent channel subunits and assembling them into tetramers (PubMed:27916661). While stabilization of nascent channel proteins is dependent on HSPA8/Hsc70, the process of oligomerization of channel subunits is independent of HSPA8/Hsc70 (PubMed:27916661). When overexpressed, forms membranous structures together with DNAJB14 and HSPA8/Hsc70 within the nucleus; the role of these structures, named DJANGOs, is still unclear (PubMed:24732912). {ECO:0000269|PubMed:21148293, ECO:0000269|PubMed:21150129, ECO:0000269|PubMed:24732912, ECO:0000269|PubMed:27916661}.; FUNCTION: (Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection (PubMed:21673190, PubMed:24675744). {ECO:0000269|PubMed:21673190, ECO:0000269|PubMed:24675744}. |
| Retention 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 * 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 MCM3AP-DNAJB12 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for MCM3AP-DNAJB12 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for MCM3AP-DNAJB12 |
| Drugs targeting genes involved in this fusion gene. (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 MCM3AP-DNAJB12 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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