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Fusion gene ID: 9521 |
FusionGeneSummary for DDIT3_FUS |
Fusion gene summary |
Fusion gene information | Fusion gene name: DDIT3_FUS | Fusion gene ID: 9521 | Hgene | Tgene | Gene symbol | DDIT3 | FUS | Gene ID | 1649 | 2521 |
Gene name | DNA damage inducible transcript 3 | FUS RNA binding protein | |
Synonyms | C/EBPzeta|CEBPZ|CHOP|CHOP-10|CHOP10|GADD153 | ALS6|ETM4|FUS1|HNRNPP2|POMP75|TLS | |
Cytomap | 12q13.3 | 16p11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | DNA damage-inducible transcript 3 proteinC/EBP zetaCCAAT/enhancer-binding protein homologous proteinc/EBP-homologous protein 10growth arrest and DNA damage-inducible protein GADD153 | RNA-binding protein FUS75 kDa DNA-pairing proteinFUS/ERG chimeric proteinFUS/ERG fusion proteinfus-like proteinfused in sarcomafusion gene in myxoid liposarcomaheterogeneous nuclear ribonucleoprotein P2oncogene FUSoncogene TLStranslocated in lip | |
Modification date | 20180527 | 20180527 | |
UniProtAcc | P35638 | P35637 | |
Ensembl transtripts involved in fusion gene | ENST00000547303, ENST00000551116, ENST00000346473, ENST00000552740, | ENST00000254108, ENST00000380244, ENST00000568685, ENST00000474990, | |
Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 6 X 8 X 2=96 |
# samples | 4 | 10 | |
** MAII score | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(10/96*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: DDIT3 [Title/Abstract] AND FUS [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* 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 | DDIT3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 18940792 |
Hgene | DDIT3 | GO:0006986 | response to unfolded protein | 18940792 |
Hgene | DDIT3 | GO:0007050 | cell cycle arrest | 22496745 |
Hgene | DDIT3 | GO:0032792 | negative regulation of CREB transcription factor activity | 8622660 |
Hgene | DDIT3 | GO:0034976 | response to endoplasmic reticulum stress | 18940792|19061639|20829347 |
Hgene | DDIT3 | GO:0042789 | mRNA transcription by RNA polymerase II | 14667815 |
Hgene | DDIT3 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 17872950 |
Hgene | DDIT3 | GO:0043433 | negative regulation of DNA binding transcription factor activity | 16434966 |
Hgene | DDIT3 | GO:0045454 | cell redox homeostasis | 14667815 |
Hgene | DDIT3 | GO:0045892 | negative regulation of transcription, DNA-templated | 18940792 |
Hgene | DDIT3 | GO:0045893 | positive regulation of transcription, DNA-templated | 15322075|15775988 |
Hgene | DDIT3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 22065586 |
Hgene | DDIT3 | GO:0051259 | protein complex oligomerization | 18534616 |
Hgene | DDIT3 | GO:0070059 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 18940792|20829347 |
Hgene | DDIT3 | GO:1903026 | negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding | 8622660 |
Hgene | DDIT3 | GO:1990440 | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress | 15322075|24939851 |
Hgene | DDIT3 | GO:2000016 | negative regulation of determination of dorsal identity | 16434966 |
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 | SARC | TCGA-Z4-A9VC-01A | DDIT3 | chr12 | 57914201 | - | FUS | chr16 | 31200986 | + |
ChiTaRS3.1 | AJ301614 | DDIT3 | chr12 | 57912909 | - | FUS | chr16 | 31202469 | + |
* 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 |
5UTR-3CDS | ENST00000547303 | ENST00000254108 | DDIT3 | chr12 | 57914201 | - | FUS | chr16 | 31200986 | + |
5UTR-3CDS | ENST00000547303 | ENST00000380244 | DDIT3 | chr12 | 57914201 | - | FUS | chr16 | 31200986 | + |
5UTR-3CDS | ENST00000547303 | ENST00000568685 | DDIT3 | chr12 | 57914201 | - | FUS | chr16 | 31200986 | + |
5UTR-3UTR | ENST00000547303 | ENST00000474990 | DDIT3 | chr12 | 57914201 | - | FUS | chr16 | 31200986 | + |
5UTR-3CDS | ENST00000551116 | ENST00000254108 | DDIT3 | chr12 | 57914201 | - | FUS | chr16 | 31200986 | + |
5UTR-3CDS | ENST00000551116 | ENST00000380244 | DDIT3 | chr12 | 57914201 | - | FUS | chr16 | 31200986 | + |
5UTR-3CDS | ENST00000551116 | ENST00000568685 | DDIT3 | chr12 | 57914201 | - | FUS | chr16 | 31200986 | + |
5UTR-3UTR | ENST00000551116 | ENST00000474990 | DDIT3 | chr12 | 57914201 | - | FUS | chr16 | 31200986 | + |
5UTR-3CDS | ENST00000346473 | ENST00000254108 | DDIT3 | chr12 | 57914201 | - | FUS | chr16 | 31200986 | + |
5UTR-3CDS | ENST00000346473 | ENST00000380244 | DDIT3 | chr12 | 57914201 | - | FUS | chr16 | 31200986 | + |
5UTR-3CDS | ENST00000346473 | ENST00000568685 | DDIT3 | chr12 | 57914201 | - | FUS | chr16 | 31200986 | + |
5UTR-3UTR | ENST00000346473 | ENST00000474990 | DDIT3 | chr12 | 57914201 | - | FUS | chr16 | 31200986 | + |
5UTR-3CDS | ENST00000552740 | ENST00000254108 | DDIT3 | chr12 | 57914201 | - | FUS | chr16 | 31200986 | + |
5UTR-3CDS | ENST00000552740 | ENST00000380244 | DDIT3 | chr12 | 57914201 | - | FUS | chr16 | 31200986 | + |
5UTR-3CDS | ENST00000552740 | ENST00000568685 | DDIT3 | chr12 | 57914201 | - | FUS | chr16 | 31200986 | + |
5UTR-3UTR | ENST00000552740 | ENST00000474990 | DDIT3 | chr12 | 57914201 | - | FUS | chr16 | 31200986 | + |
intron-intron | ENST00000547303 | ENST00000254108 | DDIT3 | chr12 | 57912909 | - | FUS | chr16 | 31202469 | + |
intron-intron | ENST00000547303 | ENST00000380244 | DDIT3 | chr12 | 57912909 | - | FUS | chr16 | 31202469 | + |
intron-intron | ENST00000547303 | ENST00000568685 | DDIT3 | chr12 | 57912909 | - | FUS | chr16 | 31202469 | + |
intron-intron | ENST00000547303 | ENST00000474990 | DDIT3 | chr12 | 57912909 | - | FUS | chr16 | 31202469 | + |
intron-intron | ENST00000551116 | ENST00000254108 | DDIT3 | chr12 | 57912909 | - | FUS | chr16 | 31202469 | + |
intron-intron | ENST00000551116 | ENST00000380244 | DDIT3 | chr12 | 57912909 | - | FUS | chr16 | 31202469 | + |
intron-intron | ENST00000551116 | ENST00000568685 | DDIT3 | chr12 | 57912909 | - | FUS | chr16 | 31202469 | + |
intron-intron | ENST00000551116 | ENST00000474990 | DDIT3 | chr12 | 57912909 | - | FUS | chr16 | 31202469 | + |
intron-intron | ENST00000346473 | ENST00000254108 | DDIT3 | chr12 | 57912909 | - | FUS | chr16 | 31202469 | + |
intron-intron | ENST00000346473 | ENST00000380244 | DDIT3 | chr12 | 57912909 | - | FUS | chr16 | 31202469 | + |
intron-intron | ENST00000346473 | ENST00000568685 | DDIT3 | chr12 | 57912909 | - | FUS | chr16 | 31202469 | + |
intron-intron | ENST00000346473 | ENST00000474990 | DDIT3 | chr12 | 57912909 | - | FUS | chr16 | 31202469 | + |
intron-intron | ENST00000552740 | ENST00000254108 | DDIT3 | chr12 | 57912909 | - | FUS | chr16 | 31202469 | + |
intron-intron | ENST00000552740 | ENST00000380244 | DDIT3 | chr12 | 57912909 | - | FUS | chr16 | 31202469 | + |
intron-intron | ENST00000552740 | ENST00000568685 | DDIT3 | chr12 | 57912909 | - | FUS | chr16 | 31202469 | + |
intron-intron | ENST00000552740 | ENST00000474990 | DDIT3 | chr12 | 57912909 | - | FUS | chr16 | 31202469 | + |
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FusionProtFeatures for DDIT3_FUS |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
DDIT3 | FUS |
Multifunctional transcription factor in ER stressresponse. Plays an essential role in the response to a widevariety of cell stresses and induces cell cycle arrest andapoptosis in response to ER stress. Plays a dual role both as aninhibitor of CCAAT/enhancer-binding protein (C/EBP) function andas an activator of other genes. Acts as a dominant-negativeregulator of C/EBP-induced transcription: dimerizes with membersof the C/EBP family, impairs their association with C/EBP bindingsites in the promoter regions, and inhibits the expression ofC/EBP regulated genes. Positively regulates the transcription ofTRIB3, IL6, IL8, IL23, TNFRSF10B/DR5, PPP1R15A/GADD34, BBC3/PUMA,BCL2L11/BIM and ERO1L. Negatively regulates; expression of BCL2and MYOD1, ATF4-dependent transcriptional activation of asparaginesynthetase (ASNS), CEBPA-dependent transcriptional activation ofhepcidin (HAMP) and CEBPB-mediated expression of peroxisomeproliferator-activated receptor gamma (PPARG). Inhibits thecanonical Wnt signaling pathway by binding to TCF7L2/TCF4,impairing its DNA-binding properties and repressing itstranscriptional activity. Plays a regulatory role in theinflammatory response through the induction of caspase-11(CASP4/CASP11) which induces the activation of caspase-1 (CASP1)and both these caspases increase the activation of pro-IL1B tomature IL1B which is involved in the inflammatory response.{ECO:0000269|PubMed:15322075, ECO:0000269|PubMed:15775988,ECO:0000269|PubMed:16434966, ECO:0000269|PubMed:17709599,ECO:0000269|PubMed:18940792, ECO:0000269|PubMed:19672300,ECO:0000269|PubMed:20829347, ECO:0000269|PubMed:20876114,ECO:0000269|PubMed:22761832}. | Binds both single-stranded and double-stranded DNA andpromotes ATP-independent annealing of complementary single-stranded DNAs and D-loop formation in superhelical double-strandedDNA. May play a role in maintenance of genomic integrity. |
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 DDIT3_FUS |
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 DDIT3_FUS |
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 |
DDIT3 | HSD17B14, MCMBP, SPOP, BATF, CEBPG, CSNK2A1, CEBPB, JUND, FOS, JUN, ATF3, RPS3A, MAPK14, C14orf80, LDOC1L, HOXA5, SSX3, RAI1, ZSCAN31, HDAC1, CEBPE, SRA1, COPS7A, COPS8, CUL3, CUL1, COPS3, KEAP1, CDK6, BATF2, ATF4, EPAS1, DBP, BACH2, BACH1, MAFG, MAFF, BATF3, FOSL1, JUNB, ATF2, NFIL3, CREB3L1, CREB3, DDIT3, F2, GP1BA, KPNA2, IKBKG, DGCR2, POLR1D, PPIB, EP300, GIPC1, TRIB3, HDAC5, HDAC6, FOSL2, LMO2, ZBTB25, TNFSF12, SNAPC5, AMOTL2, VPS37C, C11orf30, ZC3H14, ATPAF2, CCDC153, CREBBP, DNMT3L, GABBR2, GABBR1, CEBPA, FANCA, PARK2 | FUS | EIF6, USF2, PRMT1, PTBP2, SRRM1, SPI1, YBX1, ILF3, SF1, SRSF10, THRA, RXRA, RELA, OTUB1, ZMYM2, SARNP, TARDBP, DGCR8, PCM1, SF3A2, SIRT7, SQSTM1, TDRD3, CUL3, CUL4A, CUL4B, CUL5, CUL2, CDK2, CUL1, COPS5, COPS6, DCUN1D1, CAND1, NEDD8, ARHGEF28, PA2G4, UBE2I, ATXN1L, GRB2, PIK3R2, HNRNPA3, NONO, EEF1A1, DYNC1H1, GSE1, MBD3, MRPS18B, SAP30BP, RPLP1, ESR1, FN1, VCAM1, TP63, IL7R, UBL4A, ITGA4, CTNNB1, UPF1, LMNA, EWSR1, RBMX, PSMB7, ESRRA, MDH1, TAF15, SRSF9, SAFB2, TNIP1, KHDRBS3, NKD2, MAX, PARK2, SUV39H1, WBP4, HNRNPU, LARS, RPA3, RPA2, RPA1, WWOX, HSPA5, VCP, SFPQ, YWHAZ, YWHAQ, PFN1, FASN, PGK1, CKB, ENO1, LDHB, PAICS, PHGDH, LDHA, GAPDH, PKM, ATXN2L, MTHFD1, ACACA, CA2, ALDOA, GPI, PYCRL, PFKL, PGM1, ABCA1, HPRT1, PM20D2, TKT, UBA1, PSMD12, CDH4, ANXA2P2, GNAS, PLCE1, TRPM4, SLC1A5, UBAP2, UBAP2L, LYZ, CKAP4, YPEL1, HIST4H4, H3F3A, H3F3B, HIST2H2BE, DDX42, HNRNPD, SYNCRIP, DHX40, SF3A1, SF3B3, SF3B4, SERBP1, FANCM, RAD54B, PCNA, PHB, TP73, RPL18, RPL9, RPS9, TBPL1, TRIP4, DNAJC10, SAE1, DLD, GOT2, ATP5A1, GSTP1, HARS2, SLC25A3, KPNA2, RAB7A, SPATA6, UACA, STATH, ANXA5, MAP3K3, UBC, TUBB, CFL1, TUBA1A, ACTB, HNRNPF, HNRNPH1, DHX15, CPSF6, SF3A3, HNRNPK, PSPC1, HNRNPL, RPS5, RPS8, RPL12, RPN2, EEF2, EEF1G, HSP90AA1, CCT5, CCT6A, HSP90AB1, CCT2, CCT4, HSP90B1, CCT3, CCT7, CCT8, HSPA8, PPIL4, TCP1, PDIA3, PPIA, SSBP1, GLUD1, ATP5B, HSPA9, ERAL1, TUFM, HSPD1, PYCR1, MDH2, ABCF2, KPNB1, PRDX1, ERP44, F7, ALB, ARMC6, ADCK5, CCDC88A, GPR101, ITK, DGKA, SLC22A11, HERC6, TUBA1B, MTSS1L, CEP112, COL18A1, SEC13, NAP1L1, SNRPD2, NCAPG2, RBBP4, FLJ22447, LSM12, NUDT21, DDX1, C14orf166, DDX5, HIVEP3, NCOA6, RAVER1, TCEB1, TXNL4B, TTI2, GEN1, RPL14, RPS14, NPM1, RPL11, RPL4, EIF4A1, PCBP2, ST13, NSDHL, MTAP, MAT2A, AHCY, OAT, BCS1L, SLC25A5, TIMM50, MYH10, GOLIM4, CSE1L, RAN, KLHL40, KLHL5, IGKV1-5, C6, GIMAP8, CDC5L, CEP78, DBF4B, AMOT, FAM71F1, MFGE8, FAM98A, C11orf70, RTCB, UFL1, LRRIQ4, NUPR1, CUL7, OBSL1, EZH2, SUZ12, BMI1, ABL1, CHEK1, SIK2, SRPK1, LUZP4, UPF2, UPF3A, FAM58A, YEATS4, RPS6KB2, HNRNPA1, FBXW11, ACAT1, ARMC1, C2orf49, DDX17, DNAJC7, EIF4H, AURKA, PTBP1, TOMM34, TXLNA, UFD1L, HNRNPDL, MEF2D, NAA50, NPLOC4, PFKP, PICALM, TARS, NTRK1, SCARNA22, TCF7L2, KIF22, EMC2, MATR3, MCM2, SNW1, RC3H1, EGFR, TRAF6, CRBN, KCTD6, RPS27, PSRC1, SMCO3, CYLD, TRIM25, BRCA1, HDAC6 |
- 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 DDIT3_FUS |
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 |
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RelatedDiseases for DDIT3_FUS |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DDIT3 | C0206634 | Liposarcoma, Myxoid | 3 | CTD_human;HPO;ORPHANET |
Hgene | DDIT3 | C0003949 | Asbestosis | 1 | CTD_human |
Hgene | DDIT3 | C0011616 | Contact Dermatitis | 1 | CTD_human |
Hgene | DDIT3 | C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | CTD_human |
Hgene | DDIT3 | C0021831 | Intestinal Diseases | 1 | CTD_human |
Hgene | DDIT3 | C0027051 | Myocardial Infarction | 1 | CTD_human |
Hgene | DDIT3 | C0027720 | Nephrosis | 1 | CTD_human |
Hgene | DDIT3 | C0028754 | Obesity | 1 | CTD_human |
Hgene | DDIT3 | C0028840 | Ocular Hypertension | 1 | CTD_human |
Hgene | DDIT3 | C0041582 | Ulcer | 1 | CTD_human |
Hgene | DDIT3 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | DDIT3 | C3495559 | Juvenile arthritis | 1 | CTD_human |
Tgene | FUS | C1842675 | AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) | 6 | UNIPROT |
Tgene | FUS | C0206634 | Liposarcoma, Myxoid | 2 | CTD_human;ORPHANET |
Tgene | FUS | C3539195 | TREMOR, HEREDITARY ESSENTIAL, 4 | 1 | UNIPROT |