|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 6465 |
FusionGeneSummary for CDH4_NLRP9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CDH4_NLRP9 | Fusion gene ID: 6465 | Hgene | Tgene | Gene symbol | CDH4 | NLRP9 | Gene ID | 1002 | 338321 |
| Gene name | cadherin 4 | NLR family pyrin domain containing 9 | |
| Synonyms | CAD4|R-CAD|RCAD | CLR19.1|NALP9|NOD6|PAN12 | |
| Cytomap | 20q13.33 | 19q13.42 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cadherin-4R-cadherincadherin 4, type 1, R-cadherin (retinal)cadherin 4, type 1, preproproteinretinal cadherin | NACHT, LRR and PYD domains-containing protein 9NACHT, LRR and PYD containing protein 9NACHT, leucine rich repeat and PYD containing 9PYRIN and NACHT-containing protein 12nucleotide-binding oligomerization domain protein 6nucleotide-binding oligomeriz | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P55283 | Q7RTR0 | |
| Ensembl transtripts involved in fusion gene | ENST00000360469, ENST00000543233, | ENST00000332836, | |
| Fusion gene scores | * DoF score | 4 X 3 X 2=24 | 4 X 4 X 4=64 |
| # samples | 4 | 4 | |
| ** MAII score | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CDH4 [Title/Abstract] AND NLRP9 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 |
| 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-EW-A1PA-01A | CDH4 | chr20 | 60348238 | + | NLRP9 | chr19 | 56244916 | - |
| * 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 | ENST00000360469 | ENST00000332836 | CDH4 | chr20 | 60348238 | + | NLRP9 | chr19 | 56244916 | - |
| Frame-shift | ENST00000543233 | ENST00000332836 | CDH4 | chr20 | 60348238 | + | NLRP9 | chr19 | 56244916 | - |
Top |
FusionProtFeatures for CDH4_NLRP9 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CDH4 | NLRP9 |
| Cadherins are calcium-dependent cell adhesion proteins.They preferentially interact with themselves in a homophilicmanner in connecting cells; cadherins may thus contribute to thesorting of heterogeneous cell types. May play an important role inretinal development. | As the sensor component of the NLRP9 inflammasome, playsa crucial role in innate immunity and inflammation. In response topathogens, including rotavirus, initiates the formation of theinflammasome polymeric complex, made of NLRP9, PYCARD and CASP1.Recruitment of proCASP1 to the inflammasome promotes itsactivation and CASP1-catalyzed IL1B and IL18 maturation andrelease in the extracellular milieu. The active cytokinesstimulate inflammatory responses. Inflammasomes can also inducepyroptosis, an inflammatory form of programmed cell death. NLRP9inflammasome activation may be initiated by DHX9 interaction withviral double-stranded RNA (dsRNA), preferentially to short dsRNAsegments. {ECO:0000269|PubMed:28636595}. |
| 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 |
Top |
FusionGeneSequence for CDH4_NLRP9 |
| 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). |
Top |
FusionGenePPI for CDH4_NLRP9 |
| 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 |
| CDH4 | CDH2, CDK5RAP3, FUS, UBE2I, CTNNA3, MTNR1B | NLRP9 | ABCF3, CAPZA1, PSMD11, PSMD14, PSMD12 |
| - 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 |
Top |
RelatedDrugs for CDH4_NLRP9 |
| 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 |
Top |
RelatedDiseases for CDH4_NLRP9 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|