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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:ATP6V1C2-ATM (FusionGDB2 ID:HG245973TG472) |
Fusion Gene Summary for ATP6V1C2-ATM |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATP6V1C2-ATM | Fusion gene ID: hg245973tg472 | Hgene | Tgene | Gene symbol | ATP6V1C2 | ATM | Gene ID | 245973 | 472 |
| Gene name | ATPase H+ transporting V1 subunit C2 | ATM serine/threonine kinase | |
| Synonyms | ATP6C2|VMA5 | AT1|ATA|ATC|ATD|ATDC|ATE|TEL1|TELO1 | |
| Cytomap | ('ATP6V1C2')('ATM') 2p25.1 | 11q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | V-type proton ATPase subunit C 2ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2V-ATPase C2 subunitvacuolar proton pump subunit C 2 | serine-protein kinase ATMA-T mutatedAT mutatedTEL1, telomere maintenance 1, homologataxia telangiectasia mutated | |
| Modification date | 20200313 | 20200322 | |
| UniProtAcc | Q8NEY4 | Q13315 | |
| Ensembl transtripts involved in fusion gene | ENST00000381661, ENST00000272238, | ||
| Fusion gene scores | * DoF score | 6 X 6 X 3=108 | 8 X 9 X 8=576 |
| # samples | 6 | 12 | |
| ** MAII score | log2(6/108*10)=-0.84799690655495 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 | PubMed: ATP6V1C2 [Title/Abstract] AND ATM [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ATP6V1C2(10924263)-ATM(108172361), # 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 |
| 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 information * 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 ATP6V1C2-ATM |
| 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 |
| 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 ATP6V1C2-ATM |
| 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) |
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Fusion Protein Features for ATP6V1C2-ATM |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:10924263/:108172361) - 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 |
| ATP6V1C2 | ATM |
| FUNCTION: Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. | FUNCTION: Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2, CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, UFL1, RAD9, UBQLN4 and DCLRE1C (PubMed:9843217, PubMed:9733515, PubMed:10550055, PubMed:10766245, PubMed:10839545, PubMed:10910365, PubMed:10802669, PubMed:10973490, PubMed:11375976, PubMed:12086603, PubMed:15456891, PubMed:19965871, PubMed:30612738, PubMed:30886146). May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends. Phosphorylation of DYRK2 in nucleus in response to genotoxic stress prevents its MDM2-mediated ubiquitination and subsequent proteasome degradation. Phosphorylates ATF2 which stimulates its function in DNA damage response. Phosphorylates ERCC6 which is essential for its chromatin remodeling activity at DNA double-strand breaks (PubMed:29203878). {ECO:0000269|PubMed:10550055, ECO:0000269|PubMed:10766245, ECO:0000269|PubMed:10802669, ECO:0000269|PubMed:10839545, ECO:0000269|PubMed:10910365, ECO:0000269|PubMed:10973490, ECO:0000269|PubMed:11375976, ECO:0000269|PubMed:12086603, ECO:0000269|PubMed:12556884, ECO:0000269|PubMed:14871926, ECO:0000269|PubMed:15456891, ECO:0000269|PubMed:15916964, ECO:0000269|PubMed:16086026, ECO:0000269|PubMed:16858402, ECO:0000269|PubMed:17923702, ECO:0000269|PubMed:19431188, ECO:0000269|PubMed:19965871, ECO:0000269|PubMed:29203878, ECO:0000269|PubMed:30612738, ECO:0000269|PubMed:30886146, ECO:0000269|PubMed:9733514, ECO:0000269|PubMed:9733515, ECO:0000269|PubMed:9843217}. |
| 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 ATP6V1C2-ATM |
| 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 ATP6V1C2-ATM |
| 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 ATP6V1C2-ATM |
| 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 |
| Tgene | ATM | Q13315 | DB00201 | Caffeine | Inhibitor | Small molecule | Approved |
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Related Diseases for ATP6V1C2-ATM |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | C0004135 | Ataxia Telangiectasia | 37 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 6 | CLINGEN | |
| Tgene | C1112155 | Hereditary non-polyposis colorectal cancer syndrome | 6 | CLINGEN | |
| Tgene | C1333990 | Hereditary Nonpolyposis Colorectal Cancer | 6 | CLINGEN | |
| Tgene | C1333991 | Hereditary Non-Polyposis Colon Cancer Type 2 | 6 | CLINGEN | |
| Tgene | C2936783 | Colorectal cancer, hereditary nonpolyposis, type 1 | 6 | CLINGEN | |
| Tgene | C0346153 | Breast Cancer, Familial | 5 | CLINGEN | |
| Tgene | C0033578 | Prostatic Neoplasms | 4 | CTD_human | |
| Tgene | C0376358 | Malignant neoplasm of prostate | 4 | CTD_human | |
| Tgene | C0023434 | Chronic Lymphocytic Leukemia | 2 | CTD_human;ORPHANET;UNIPROT | |
| Tgene | C0030297 | Pancreatic Neoplasm | 2 | CTD_human | |
| Tgene | C0346647 | Malignant neoplasm of pancreas | 2 | CTD_human | |
| Tgene | C0005684 | Malignant neoplasm of urinary bladder | 1 | CGI;CTD_human | |
| Tgene | C0005695 | Bladder Neoplasm | 1 | CGI;CTD_human | |
| Tgene | C0006142 | Malignant neoplasm of breast | 1 | CTD_human;GENOMICS_ENGLAND | |
| Tgene | C0006826 | Malignant Neoplasms | 1 | CTD_human | |
| Tgene | C0007137 | Squamous cell carcinoma | 1 | CTD_human | |
| Tgene | C0007193 | Cardiomyopathy, Dilated | 1 | CTD_human | |
| Tgene | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human | |
| Tgene | C0016059 | Fibrosis | 1 | CTD_human | |
| Tgene | C0017638 | Glioma | 1 | CGI;GENOMICS_ENGLAND | |
| Tgene | C0021051 | Immunologic Deficiency Syndromes | 1 | GENOMICS_ENGLAND | |
| Tgene | C0023418 | leukemia | 1 | CGI;GENOMICS_ENGLAND | |
| Tgene | C0024299 | Lymphoma | 1 | CGI;GENOMICS_ENGLAND | |
| Tgene | C0024623 | Malignant neoplasm of stomach | 1 | CGI;CTD_human | |
| Tgene | C0025149 | Medulloblastoma | 1 | CGI;GENOMICS_ENGLAND | |
| Tgene | C0025202 | melanoma | 1 | CTD_human | |
| Tgene | C0027051 | Myocardial Infarction | 1 | CTD_human | |
| Tgene | C0027651 | Neoplasms | 1 | CTD_human | |
| Tgene | C0033054 | Prenatal Exposure Delayed Effects | 1 | CTD_human | |
| Tgene | C0036341 | Schizophrenia | 1 | PSYGENET | |
| Tgene | C0038356 | Stomach Neoplasms | 1 | CGI;CTD_human | |
| Tgene | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human | |
| Tgene | C0079774 | Peripheral T-Cell Lymphoma | 1 | CTD_human | |
| Tgene | C0086543 | Cataract | 1 | CTD_human | |
| Tgene | C0086692 | Benign Neoplasm | 1 | CTD_human | |
| Tgene | C0242698 | Ventricular Dysfunction, Left | 1 | CTD_human | |
| Tgene | C0334634 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 1 | CGI;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C0376407 | Granulomatous Slack Skin | 1 | CTD_human | |
| Tgene | C0524524 | Pseudoaphakia | 1 | CTD_human | |
| Tgene | C0555202 | Malignant lymphoma - lymphocytic, intermediate differentiation | 1 | ORPHANET | |
| Tgene | C0855095 | Small Lymphocytic Lymphoma | 1 | ORPHANET | |
| Tgene | C1449563 | Cardiomyopathy, Familial Idiopathic | 1 | CTD_human | |
| Tgene | C1510497 | Lens Opacities | 1 | CTD_human | |
| Tgene | C1623038 | Cirrhosis | 1 | CTD_human | |
| Tgene | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human | |
| Tgene | C1843542 | T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC | 1 | GENOMICS_ENGLAND | |
| Tgene | C1868683 | B-CELL MALIGNANCY, LOW-GRADE | 1 | ORPHANET | |
| Tgene | C1876175 | Ataxia-Telangiectasia Variant | 1 | ORPHANET | |
| Tgene | C2239176 | Liver carcinoma | 1 | CTD_human | |
| Tgene | C2931456 | Prostate cancer, familial | 1 | CTD_human | |
| Tgene | C4722327 | PROSTATE CANCER, HEREDITARY, 1 | 1 | CTD_human |
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