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Fusion gene ID: 12267 |
FusionGeneSummary for EXOC4_ATM |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EXOC4_ATM | Fusion gene ID: 12267 | Hgene | Tgene | Gene symbol | EXOC4 | ATM | Gene ID | 60412 | 472 |
| Gene name | exocyst complex component 4 | ATM serine/threonine kinase | |
| Synonyms | SEC8|SEC8L1|Sec8p | AT1|ATA|ATC|ATD|ATDC|ATE|TEL1|TELO1 | |
| Cytomap | 7q33 | 11q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | exocyst complex component 4SEC8-like 1exocyst complex component Sec8 | serine-protein kinase ATMA-T mutatedAT mutatedTEL1, telomere maintenance 1, homologataxia telangiectasia mutated | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q96A65 | Q13315 | |
| Ensembl transtripts involved in fusion gene | ENST00000253861, ENST00000539845, ENST00000393161, ENST00000545148, ENST00000460346, ENST00000541309, | ENST00000278616, ENST00000452508, ENST00000525178, | |
| Fusion gene scores | * DoF score | 17 X 13 X 8=1768 | 6 X 6 X 5=180 |
| # samples | 16 | 6 | |
| ** MAII score | log2(16/1768*10)=-3.46597446450407 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/180*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EXOC4 [Title/Abstract] AND ATM [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * 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 | 16213212 |
| Tgene | ATM | GO:0006975 | DNA damage induced protein phosphorylation | 9733515 |
| 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 from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | BRCA | TCGA-BH-A1EU-01A | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| Frame-shift | ENST00000253861 | ENST00000278616 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| Frame-shift | ENST00000253861 | ENST00000452508 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| 5CDS-intron | ENST00000253861 | ENST00000525178 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| Frame-shift | ENST00000539845 | ENST00000278616 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| Frame-shift | ENST00000539845 | ENST00000452508 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| 5CDS-intron | ENST00000539845 | ENST00000525178 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| intron-3CDS | ENST00000393161 | ENST00000278616 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| intron-3CDS | ENST00000393161 | ENST00000452508 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| intron-intron | ENST00000393161 | ENST00000525178 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| Frame-shift | ENST00000545148 | ENST00000278616 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| Frame-shift | ENST00000545148 | ENST00000452508 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| 5CDS-intron | ENST00000545148 | ENST00000525178 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| intron-3CDS | ENST00000460346 | ENST00000278616 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| intron-3CDS | ENST00000460346 | ENST00000452508 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| intron-intron | ENST00000460346 | ENST00000525178 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| Frame-shift | ENST00000541309 | ENST00000278616 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| Frame-shift | ENST00000541309 | ENST00000452508 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
| 5CDS-intron | ENST00000541309 | ENST00000525178 | EXOC4 | chr7 | 133692588 | + | ATM | chr11 | 108114680 | + |
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FusionProtFeatures for EXOC4_ATM |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EXOC4 | ATM |
| Component of the exocyst complex involved in the dockingof exocytic vesicles with fusion sites on the plasma membrane.{ECO:0000250}. | Serine/threonine protein kinase which activatescheckpoint signaling upon double strand breaks (DSBs), apoptosisand genotoxic stresses such as ionizing ultraviolet A light (UVA),thereby acting as a DNA damage sensor. Recognizes the substrateconsensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histonevariant H2AX/H2AFX at double strand breaks (DSBs), therebyregulating DNA damage response mechanism. Also plays a role inpre-B cell allelic exclusion, a process leading to expression of asingle immunoglobulin heavy chain allele to enforce clonality andmonospecific recognition by the B-cell antigen receptor (BCR)expressed on individual B-lymphocytes. After the introduction ofDNA breaks by the RAG complex on one immunoglobulin allele, actsby mediating a repositioning of the second allele topericentromeric heterochromatin, preventing accessibility to theRAG complex and recombination of the second allele. Also involvedin signal transduction and cell cycle control. May function as atumor suppressor. Necessary for activation of ABL1 and SAPK.Phosphorylates DYRK2, CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1,CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C. May play a role invesicle and/or protein transport. Could play a role in T-celldevelopment, gonad and neurological function. Plays a role inreplication-dependent histone mRNA degradation. Binds DNA ends.Phosphorylation of DYRK2 in nucleus in response to genotoxicstress prevents its MDM2-mediated ubiquitination and subsequentproteasome degradation. Phosphorylates ATF2 which stimulates itsfunction in DNA damage response. {ECO:0000269|PubMed:10973490,ECO:0000269|PubMed:12556884, ECO:0000269|PubMed:14871926,ECO:0000269|PubMed:15916964, ECO:0000269|PubMed:16086026,ECO:0000269|PubMed:16858402, ECO:0000269|PubMed:17923702,ECO:0000269|PubMed:19431188, ECO:0000269|PubMed:19965871}. |
| 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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FusionGeneSequence for EXOC4_ATM |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for EXOC4_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 |
| EXOC4 | MYC, DLG3, EXOC3, GRIN2B, DLG4, EXOC7, GTF2E2, DISC1, DTNBP1, CEP63, EXOC1, MYO5A, EXOC2, EXOC8, EXOC5, IQCB1, EGFR, ATG5, ATG12, BECN1, SNAP29, BSG, TPM1, SETDB1, EXOC6, NTRK1, MED4, SCLT1, OFD1, PCM1, CNTROB, FGFR1OP, CEP128, CEP44, CNTRL, ODF2, DYNLT1, TMEM17, SNW1, CDC5L, PTAR1, MTMR4, STX11, IKBIP, IL1R2, GGA1, APLNR, EXOC3L2, EXOC6B, TSSC1, RABEP2, VPS51, RABEP1, RALB, TRIM25 | ATM | ABL1, RBBP8, BRCA1, FANCD2, SMC1A, TP53, BLM, AP1B1, ATM, ATR, PRKDC, CHEK1, E4F1, EIF4EBP1, LIG4, MRE11A, NBN, RAD17, WRN, BRCA2, TP53BP1, MLH1, MSH2, MSH6, RAD50, RAD51, RFC1, MCM2, MDC1, TERF1, PEX5, RHEB, RRM2B, XPC, SMARCB1, HUWE1, USP34, MED1, FANCI, SMC3, TAOK3, TDP1, CDC6, TTI1, TELO2, CXXC5, DCLRE1A, MCPH1, DDX1, VHL, HNRNPUL1, KAT8, ATF2, FOXO3, H2AFX, HDAC1, CHEK2, PARP1, BMI1, CHD4, SREBF1, EXO1, E2F1, DYRK2, TRAF6, TCL1A, XRCC5, ATRIP, KAT5, RNF20, RNF40, EIF3E, SKP2, ELAVL1, SIRT7, IKBKG, MAP3K7, PPP1CA, PPP1CC, BRAT1, PPP2R4, VPRBP, DCLRE1C, TOPBP1, MDM2, CSNK1D, SOCS1, SMAD7, MAPK14, TOP1, XPA, CDKN2C, PER3, DAXX, TERF2, SPSB1, ALB, RPA1, RPA2, HLA-A, HDAC6, SPOP, BCL10, TRIM28, MAGEC2, ATMIN, RELA, CDK9, POLR2A, HIF1A, WWOX, CREB1, ZEB1, BSG, CD274, LPAR6, P2RY8, RAP2A, GNA11, SCN2B, HTR6, RASSF1, AP3B1, BCAS3, ERRFI1, IL24, MTA3, NAT2, OSGIN1, TFF1, WHSC1L1, ACTL6B, NREP, FECH, HSPA8, MAP1S, ND4, NR4A1, ZNF821, GMNN, MTRR, NDUFA8, NRD1, TAF1, BAG6, MTMR3, NOLC1, ZER1, SRSF8, DCAF13, MINK1, RBM47, C1orf27, P3H2, BHLHE41, CD99L2, UTP15, BANP, SNW1, KDM2A, RANBP9, SETD2, KDM6A, SMO, SNAI1, UCHL3, NPY2R, LPAR4, OPRM1, CD70, EDNRB, MAS1, C5AR2, APLNR, PRKCA, FEN1, FOXO1 |
| - 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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RelatedDrugs for EXOC4_ATM |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | ATM | Q13315 | DB00201 | Caffeine | Serine-protein kinase ATM | small molecule | approved |
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RelatedDiseases for EXOC4_ATM |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ATM | C0004135 | Ataxia Telangiectasia | 18 | CTD_human;ORPHANET;UNIPROT |
| Tgene | ATM | C0033578 | Prostatic Neoplasms | 3 | CTD_human |
| Tgene | ATM | C0030297 | Pancreatic Neoplasm | 2 | CTD_human |
| Tgene | ATM | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Tgene | ATM | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Tgene | ATM | C0007193 | Cardiomyopathy, Dilated | 1 | CTD_human |
| Tgene | ATM | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Tgene | ATM | C0016059 | Fibrosis | 1 | CTD_human |
| Tgene | ATM | C0023434 | Chronic Lymphocytic Leukemia | 1 | CTD_human;ORPHANET |
| Tgene | ATM | C0025202 | melanoma | 1 | CTD_human |
| Tgene | ATM | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Tgene | ATM | C0033054 | Prenatal Exposure Delayed Effects | 1 | CTD_human |
| Tgene | ATM | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | ATM | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | ATM | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
| Tgene | ATM | C0079774 | Peripheral T-Cell Lymphoma | 1 | CTD_human |
| Tgene | ATM | C0086543 | Cataract | 1 | CTD_human |
| Tgene | ATM | C0242698 | Ventricular Dysfunction, Left | 1 | CTD_human |
| Tgene | ATM | C2239176 | Liver carcinoma | 1 | CTD_human |
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