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Fusion Protein:JARID2-ATM |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: JARID2-ATM | FusionPDB ID: 40880 | FusionGDB2.0 ID: 40880 | Hgene | Tgene | Gene symbol | JARID2 | ATM | Gene ID | 3720 | 472 |
| Gene name | jumonji and AT-rich interaction domain containing 2 | ATM serine/threonine kinase | |
| Synonyms | JMJ | AT1|ATA|ATC|ATD|ATDC|ATE|TEL1|TELO1 | |
| Cytomap | 6p22.3 | 11q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein Jumonjijumonji homologjumonji, AT rich interactive domain 2jumonji-like proteinjumonji/ARID domain-containing protein 2 | serine-protein kinase ATMA-T mutatedAT mutatedTEL1, telomere maintenance 1, homologataxia telangiectasia mutated | |
| Modification date | 20200313 | 20200322 | |
| UniProtAcc | Q92833 | O43313 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000341776, ENST00000397311, ENST00000474854, ENST00000541660, | ENST00000525178, ENST00000278616, ENST00000452508, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 17 X 5 X 11=935 | 8 X 9 X 8=576 |
| # samples | 18 | 12 | |
| ** MAII score | log2(18/935*10)=-2.37696945844532 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/576*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: JARID2 [Title/Abstract] AND ATM [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | JARID2(15246815)-ATM(108213949), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | JARID2-ATM 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. JARID2-ATM 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. JARID2-ATM 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. JARID2-ATM 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) |
| 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 |
| Tgene | ATM | GO:0006468 | protein phosphorylation | 15916964 |
| Tgene | ATM | GO:0006974 | cellular response to DNA damage stimulus | 9733515|16213212 |
| Tgene | ATM | GO:0010212 | response to ionizing radiation | 9733515|11375976 |
| Tgene | ATM | GO:0018105 | peptidyl-serine phosphorylation | 9733515|26323318 |
| Tgene | ATM | GO:0046777 | protein autophosphorylation | 9733515|15790808 |
| Tgene | ATM | GO:0071044 | histone mRNA catabolic process | 16086026 |
| Tgene | ATM | GO:0071480 | cellular response to gamma radiation | 9925639|16213212 |
| Tgene | ATM | GO:0071481 | cellular response to X-ray | 26323318 |
| Tgene | ATM | GO:0071500 | cellular response to nitrosative stress | 23878245 |
| Fusion gene breakpoints across JARID2 (5'-gene) * 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 breakpoints across ATM (3'-gene) * 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 |
| Fusion gene information from FusionGDB2.0. |
| 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 |
| ChimerDB4 | LUAD | TCGA-50-6594-01A | JARID2 | chr6 | 15246815 | - | ATM | chr11 | 108213949 | + |
| ChimerDB4 | LUAD | TCGA-50-6594-01A | JARID2 | chr6 | 15246815 | + | ATM | chr11 | 108213949 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000341776 | JARID2 | chr6 | 15246815 | + | ENST00000278616 | ATM | chr11 | 108213949 | + | 4783 | 289 | 232 | 1191 | 319 |
| ENST00000341776 | JARID2 | chr6 | 15246815 | + | ENST00000452508 | ATM | chr11 | 108213949 | + | 4786 | 289 | 232 | 1191 | 319 |
| 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 |
| ENST00000341776 | ENST00000278616 | JARID2 | chr6 | 15246815 | + | ATM | chr11 | 108213949 | + | 0.000141227 | 0.99985874 |
| ENST00000341776 | ENST00000452508 | JARID2 | chr6 | 15246815 | + | ATM | chr11 | 108213949 | + | 0.000148333 | 0.9998517 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >40880_40880_1_JARID2-ATM_JARID2_chr6_15246815_ENST00000341776_ATM_chr11_108213949_ENST00000278616_length(amino acids)=319AA_BP=19 MDLRMSKERPKRNIIQKKYVVPLSQRSGVLEWCTGTVPIGEFLVNNEDGAHKRYRPNDFSAFQCQKKMMEVQKKSFEEKYEVFMDVCQNF QPVFRYFCMEKFLDPAIWFEKRLAYTRSVATSSIVGYILGLGDRHVQNILINEQSAELVHIDLGVAFEQGKILPTPETVPFRLTRDIVDG MGITGVEGVFRRCCEKTMEVMRNSQETLLTIVEVLLYDPLFDWTMNPLKALYLQQRPEDETELHPTLNADDQECKRNLSDIDQSFNKVAE -------------------------------------------------------------- >40880_40880_2_JARID2-ATM_JARID2_chr6_15246815_ENST00000341776_ATM_chr11_108213949_ENST00000452508_length(amino acids)=319AA_BP=19 MDLRMSKERPKRNIIQKKYVVPLSQRSGVLEWCTGTVPIGEFLVNNEDGAHKRYRPNDFSAFQCQKKMMEVQKKSFEEKYEVFMDVCQNF QPVFRYFCMEKFLDPAIWFEKRLAYTRSVATSSIVGYILGLGDRHVQNILINEQSAELVHIDLGVAFEQGKILPTPETVPFRLTRDIVDG MGITGVEGVFRRCCEKTMEVMRNSQETLLTIVEVLLYDPLFDWTMNPLKALYLQQRPEDETELHPTLNADDQECKRNLSDIDQSFNKVAE -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:15246815/chr11:108213949) - 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 |
| JARID2 | ATM |
| FUNCTION: Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis (PubMed:20075857). Acts as an accessory subunit for the core PRC2 (Polycomb repressive complex 2) complex, which mediates histone H3K27 (H3K27me3) trimethylation on chromatin (PubMed:20075857, PubMed:29499137, PubMed:31959557). Binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells, thereby playing a key role in stem cell differentiation and normal embryonic development (PubMed:20075857). In cardiac cells, it is required to repress expression of cyclin-D1 (CCND1) by activating methylation of 'Lys-9' of histone H3 (H3K9me) by the GLP1/EHMT1 and G9a/EHMT2 histone methyltransferases (By similarity). Also acts as a transcriptional repressor of ANF via its interaction with GATA4 and NKX2-5 (By similarity). Participates in the negative regulation of cell proliferation signaling (By similarity). Does not have histone demethylase activity (By similarity). {ECO:0000250|UniProtKB:Q62315, ECO:0000269|PubMed:20075857, ECO:0000269|PubMed:29499137, ECO:0000269|PubMed:31959557}. | FUNCTION: Transcription factor. Plays a crucial role in cell survival and RAD51 foci formation in response to methylating DNA damage. Involved in regulating the activity of ATM in the absence of DNA damage. May play a role in stabilizing ATM. Binds to the DYNLL1 promoter and activates its transcription. {ECO:0000269|PubMed:15933716, ECO:0000269|PubMed:17525732, ECO:0000269|PubMed:22167198}. |
| 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. |
| - 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 | ATM | chr6:15246815 | chr11:108213949 | ENST00000278616 | 55 | 63 | 3024_3056 | 2756.0 | 3057.0 | Domain | FATC | |
| Tgene | ATM | chr6:15246815 | chr11:108213949 | ENST00000452508 | 56 | 64 | 3024_3056 | 2756.0 | 3057.0 | Domain | FATC |
| - 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 | JARID2 | chr6:15246815 | chr11:108213949 | ENST00000341776 | + | 1 | 18 | 1234_1246 | 15.0 | 1247.0 | Compositional bias | Note=Poly-Ser |
| Hgene | JARID2 | chr6:15246815 | chr11:108213949 | ENST00000397311 | + | 1 | 18 | 1234_1246 | 0 | 1075.0 | Compositional bias | Note=Poly-Ser |
| Hgene | JARID2 | chr6:15246815 | chr11:108213949 | ENST00000341776 | + | 1 | 18 | 557_598 | 15.0 | 1247.0 | Domain | JmjN |
| Hgene | JARID2 | chr6:15246815 | chr11:108213949 | ENST00000341776 | + | 1 | 18 | 621_713 | 15.0 | 1247.0 | Domain | ARID |
| Hgene | JARID2 | chr6:15246815 | chr11:108213949 | ENST00000341776 | + | 1 | 18 | 884_1048 | 15.0 | 1247.0 | Domain | JmjC |
| Hgene | JARID2 | chr6:15246815 | chr11:108213949 | ENST00000397311 | + | 1 | 18 | 557_598 | 0 | 1075.0 | Domain | JmjN |
| Hgene | JARID2 | chr6:15246815 | chr11:108213949 | ENST00000397311 | + | 1 | 18 | 621_713 | 0 | 1075.0 | Domain | ARID |
| Hgene | JARID2 | chr6:15246815 | chr11:108213949 | ENST00000397311 | + | 1 | 18 | 884_1048 | 0 | 1075.0 | Domain | JmjC |
| Hgene | JARID2 | chr6:15246815 | chr11:108213949 | ENST00000341776 | + | 1 | 18 | 104_110 | 15.0 | 1247.0 | Motif | Nuclear localization signal |
| Hgene | JARID2 | chr6:15246815 | chr11:108213949 | ENST00000341776 | + | 1 | 18 | 874_878 | 15.0 | 1247.0 | Motif | Note=GSGFP motif |
| Hgene | JARID2 | chr6:15246815 | chr11:108213949 | ENST00000397311 | + | 1 | 18 | 104_110 | 0 | 1075.0 | Motif | Nuclear localization signal |
| Hgene | JARID2 | chr6:15246815 | chr11:108213949 | ENST00000397311 | + | 1 | 18 | 874_878 | 0 | 1075.0 | Motif | Note=GSGFP motif |
| Tgene | ATM | chr6:15246815 | chr11:108213949 | ENST00000278616 | 55 | 63 | 1940_2566 | 2756.0 | 3057.0 | Domain | FAT | |
| Tgene | ATM | chr6:15246815 | chr11:108213949 | ENST00000278616 | 55 | 63 | 2712_2962 | 2756.0 | 3057.0 | Domain | PI3K/PI4K | |
| Tgene | ATM | chr6:15246815 | chr11:108213949 | ENST00000452508 | 56 | 64 | 1940_2566 | 2756.0 | 3057.0 | Domain | FAT | |
| Tgene | ATM | chr6:15246815 | chr11:108213949 | ENST00000452508 | 56 | 64 | 2712_2962 | 2756.0 | 3057.0 | Domain | PI3K/PI4K |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| JARID2 | |
| ATM |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| Tgene | ATM | chr6:15246815 | chr11:108213949 | ENST00000278616 | 55 | 63 | 1373_1382 | 2756.0 | 3057.0 | ABL1 | |
| Tgene | ATM | chr6:15246815 | chr11:108213949 | ENST00000452508 | 56 | 64 | 1373_1382 | 2756.0 | 3057.0 | ABL1 |
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Related Drugs to JARID2-ATM |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to JARID2-ATM |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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