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Fusion gene ID: 43304 |
FusionGeneSummary for ZNF423_NOD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ZNF423_NOD2 | Fusion gene ID: 43304 | Hgene | Tgene | Gene symbol | ZNF423 | NOD2 | Gene ID | 23090 | 64127 |
| Gene name | zinc finger protein 423 | nucleotide binding oligomerization domain containing 2 | |
| Synonyms | Ebfaz|JBTS19|NPHP14|OAZ|Roaz|ZFP423|Zfp104|hOAZ | ACUG|BLAU|BLAUS|CARD15|CD|CLR16.3|IBD1|NLRC2|NOD2B|PSORAS1|YAOS | |
| Cytomap | 16q12.1 | 16q12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | zinc finger protein 423OLF-1/EBF associated zinc fingerSmad- and Olf-interacting zinc finger proteinearly B-cell factor associated zinc finger proteinolf1/EBF-associated zinc finger protein | nucleotide-binding oligomerization domain-containing protein 2NLR family, CARD domain containing 2NOD-like receptor C2caspase recruitment domain family, member 15caspase recruitment domain protein 15caspase recruitment domain-containing protein 15in | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q2M1K9 | Q9HC29 | |
| Ensembl transtripts involved in fusion gene | ENST00000561648, ENST00000563137, ENST00000562871, ENST00000262383, ENST00000535559, ENST00000567169, ENST00000562520, | ENST00000526417, ENST00000300589, | |
| Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 2 X 2 X 2=8 |
| # samples | 4 | 4 | |
| ** MAII score | log2(4/60*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/8*10)=2.32192809488736 | |
| Context | PubMed: ZNF423 [Title/Abstract] AND NOD2 [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 | ZNF423 | GO:0045892 | negative regulation of transcription, DNA-templated | 10660046 |
| Hgene | ZNF423 | GO:0045893 | positive regulation of transcription, DNA-templated | 10660046 |
| Tgene | NOD2 | GO:0016045 | detection of bacterium | 15653568 |
| Tgene | NOD2 | GO:0032495 | response to muramyl dipeptide | 15998797|16414084 |
| Tgene | NOD2 | GO:0032498 | detection of muramyl dipeptide | 12527755|15998797 |
| Tgene | NOD2 | GO:0032755 | positive regulation of interleukin-6 production | 16414084 |
| Tgene | NOD2 | GO:0032760 | positive regulation of tumor necrosis factor production | 17187069 |
| Tgene | NOD2 | GO:0032874 | positive regulation of stress-activated MAPK cascade | 17187069 |
| Tgene | NOD2 | GO:0035556 | intracellular signal transduction | 15653568 |
| Tgene | NOD2 | GO:0042742 | defense response to bacterium | 15653568 |
| Tgene | NOD2 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 11087742|12527755 |
| Tgene | NOD2 | GO:0045087 | innate immune response | 23806334 |
| Tgene | NOD2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 21887730 |
| Tgene | NOD2 | GO:0046330 | positive regulation of JNK cascade | 17187069 |
| Tgene | NOD2 | GO:0050718 | positive regulation of interleukin-1 beta secretion | 15107016 |
| Tgene | NOD2 | GO:0050871 | positive regulation of B cell activation | 20844241 |
| Tgene | NOD2 | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 11385577|12527755|21887730 |
| Tgene | NOD2 | GO:0070431 | nucleotide-binding oligomerization domain containing 2 signaling pathway | 12527755|23806334 |
| Tgene | NOD2 | GO:0071225 | cellular response to muramyl dipeptide | 21887730 |
| Tgene | NOD2 | GO:1900017 | positive regulation of cytokine production involved in inflammatory response | 24671169 |
| 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 | RV | BRCA | TCGA-BH-A0B1-01A | ZNF423 | chr16 | 49764682 | - | NOD2 | chr16 | 50733399 | + |
| * 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 |
| 5CDS-3UTR | ENST00000561648 | ENST00000526417 | ZNF423 | chr16 | 49764682 | - | NOD2 | chr16 | 50733399 | + |
| 5CDS-3UTR | ENST00000561648 | ENST00000300589 | ZNF423 | chr16 | 49764682 | - | NOD2 | chr16 | 50733399 | + |
| 5CDS-3UTR | ENST00000563137 | ENST00000526417 | ZNF423 | chr16 | 49764682 | - | NOD2 | chr16 | 50733399 | + |
| 5CDS-3UTR | ENST00000563137 | ENST00000300589 | ZNF423 | chr16 | 49764682 | - | NOD2 | chr16 | 50733399 | + |
| 5CDS-3UTR | ENST00000562871 | ENST00000526417 | ZNF423 | chr16 | 49764682 | - | NOD2 | chr16 | 50733399 | + |
| 5CDS-3UTR | ENST00000562871 | ENST00000300589 | ZNF423 | chr16 | 49764682 | - | NOD2 | chr16 | 50733399 | + |
| 5CDS-3UTR | ENST00000262383 | ENST00000526417 | ZNF423 | chr16 | 49764682 | - | NOD2 | chr16 | 50733399 | + |
| 5CDS-3UTR | ENST00000262383 | ENST00000300589 | ZNF423 | chr16 | 49764682 | - | NOD2 | chr16 | 50733399 | + |
| intron-3UTR | ENST00000535559 | ENST00000526417 | ZNF423 | chr16 | 49764682 | - | NOD2 | chr16 | 50733399 | + |
| intron-3UTR | ENST00000535559 | ENST00000300589 | ZNF423 | chr16 | 49764682 | - | NOD2 | chr16 | 50733399 | + |
| intron-3UTR | ENST00000567169 | ENST00000526417 | ZNF423 | chr16 | 49764682 | - | NOD2 | chr16 | 50733399 | + |
| intron-3UTR | ENST00000567169 | ENST00000300589 | ZNF423 | chr16 | 49764682 | - | NOD2 | chr16 | 50733399 | + |
| 5CDS-3UTR | ENST00000562520 | ENST00000526417 | ZNF423 | chr16 | 49764682 | - | NOD2 | chr16 | 50733399 | + |
| 5CDS-3UTR | ENST00000562520 | ENST00000300589 | ZNF423 | chr16 | 49764682 | - | NOD2 | chr16 | 50733399 | + |
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FusionProtFeatures for ZNF423_NOD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ZNF423 | NOD2 |
| Transcription factor that can both act as an activatoror a repressor depending on the context. Plays a central role inBMP signaling and olfactory neurogenesis. Associates with SMADs inresponse to BMP2 leading to activate transcription of BMP targetgenes. Acts as a transcriptional repressor via its interactionwith EBF1, a transcription factor involved in terminal olfactoryreceptor neurons differentiation; this interaction preventing EBF1to bind DNA and activate olfactory-specific genes. Involved inolfactory neurogenesis by participating in a developmental switchthat regulates the transition from differentiation to maturationin olfactory receptor neurons. Controls proliferation anddifferentiation of neural precursors in cerebellar vermisformation. {ECO:0000269|PubMed:10660046}. | Involved in gastrointestinal immunity. Upon stimulationby muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan,binds the proximal adapter receptor-interacting RIPK2, whichrecruits ubiquitin ligases as XIAP, BIRC2, BIRC3, INAVA and theLUBAC complex, triggering activation of MAP kinases and activationof NF-kappa-B signaling. This in turn leads to the transcriptionalactivation of hundreds of genes involved in immune response.Required for MDP-induced NLRP1-dependent CASP1 activation and IL1Brelease in macrophages (PubMed:18511561). Component of anautophagy-mediated antibacterial pathway together with ATG16L1(PubMed:20637199). Plays also a role in sensing single-strandedRNA (ssRNA) from viruses. Interacts with mitochondrial antiviralsignaling/MAVS, leading to activation of interferon regulatoryfactor-3/IRF3 and expression of type I interferon(PubMed:19701189). {ECO:0000269|PubMed:18511561,ECO:0000269|PubMed:19701189, ECO:0000269|PubMed:20637199,ECO:0000269|PubMed:23806334, ECO:0000269|PubMed:28436939}. |
| 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 ZNF423_NOD2 |
| 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 ZNF423_NOD2 |
| 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 |
| ZNF423 | PARP1, SMAD4, SMAD1, EBF1, EBF2, EBF3, USP7, CEP290, LYN, BRCA1, MTA1, ZNF219, RBBP7, MBD3L1, ZG16B | NOD2 | NLRC4, CASP1, RIPK2, BIRC2, BIRC3, NAT16, XIAP, IKBKG, RIPK1, RNF31, RBCK1, SHARPIN, GALNT2, FIS1, TLE1, VIM, KAT5, PPP2R5E, CASP12, TRIM27, COPS6, TRAF4, MAP3K7, SQSTM1, TRAF6, NOD2, SUGT1, ATG16L1, NOD1, UBC, IRGM, CYLD, TNFAIP3 |
| - 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 ZNF423_NOD2 |
| 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 | NOD2 | Q9HC29 | DB13615 | Mifamurtide | Nucleotide-binding oligomerization domain-containing protein 2 | small molecule | approved|experimental |
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RelatedDiseases for ZNF423_NOD2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ZNF423 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
| Hgene | ZNF423 | C3539071 | NEPHRONOPHTHISIS 14 | 1 | UNIPROT |
| Tgene | NOD2 | C1861303 | SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) | 11 | CTD_human;ORPHANET;UNIPROT |
| Tgene | NOD2 | C0010346 | Crohn Disease | 6 | CTD_human |
| Tgene | NOD2 | C1836122 | SARCOIDOSIS, EARLY-ONSET | 3 | CTD_human;UNIPROT |
| Tgene | NOD2 | C0021390 | Inflammatory Bowel Diseases | 2 | CTD_human |
| Tgene | NOD2 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | NOD2 | C0009324 | Ulcerative Colitis | 1 | CTD_human |
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