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Fusion gene ID: 42629 |
FusionGeneSummary for ZCCHC17_NDP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ZCCHC17_NDP | Fusion gene ID: 42629 | Hgene | Tgene | Gene symbol | ZCCHC17 | NDP | Gene ID | 51538 | 4693 |
| Gene name | zinc finger CCHC-type containing 17 | NDP, norrin cystine knot growth factor | |
| Synonyms | HSPC251|PS1D|pNO40 | EVR2|FEVR|ND | |
| Cytomap | 1p35.2 | Xp11.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nucleolar protein of 40 kDanucleolar protein 40pnn-interacting nucleolar proteinputative S1 RNA binding domain proteinzinc finger CCHC domain-containing protein 17zinc finger, CCHC domain containing 17 | norrinNorrie disease (pseudoglioma)X-linked exudative vitreoretinopathy 2 proteinnorrie disease protein | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q9NP64 | Q00604 | |
| Ensembl transtripts involved in fusion gene | ENST00000344147, ENST00000479629, ENST00000373714, ENST00000546109, ENST00000422613, | ENST00000378062, ENST00000470584, | |
| Fusion gene scores | * DoF score | 7 X 6 X 4=168 | 1 X 1 X 1=1 |
| # samples | 7 | 1 | |
| ** MAII score | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ZCCHC17 [Title/Abstract] AND NDP [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 |
| Tgene | NDP | GO:0016055 | Wnt signaling pathway | 17955262 |
| Tgene | NDP | GO:0045893 | positive regulation of transcription, DNA-templated | 15035989|17955262 |
| Tgene | NDP | GO:0060070 | canonical Wnt signaling pathway | 15035989 |
| 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 | OV | TCGA-24-1424-01A | ZCCHC17 | chr1 | 31821821 | + | NDP | chrX | 43818098 | - |
| * 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-5UTR | ENST00000344147 | ENST00000378062 | ZCCHC17 | chr1 | 31821821 | + | NDP | chrX | 43818098 | - |
| 5CDS-5UTR | ENST00000344147 | ENST00000470584 | ZCCHC17 | chr1 | 31821821 | + | NDP | chrX | 43818098 | - |
| 5CDS-5UTR | ENST00000479629 | ENST00000378062 | ZCCHC17 | chr1 | 31821821 | + | NDP | chrX | 43818098 | - |
| 5CDS-5UTR | ENST00000479629 | ENST00000470584 | ZCCHC17 | chr1 | 31821821 | + | NDP | chrX | 43818098 | - |
| 5CDS-5UTR | ENST00000373714 | ENST00000378062 | ZCCHC17 | chr1 | 31821821 | + | NDP | chrX | 43818098 | - |
| 5CDS-5UTR | ENST00000373714 | ENST00000470584 | ZCCHC17 | chr1 | 31821821 | + | NDP | chrX | 43818098 | - |
| 5CDS-5UTR | ENST00000546109 | ENST00000378062 | ZCCHC17 | chr1 | 31821821 | + | NDP | chrX | 43818098 | - |
| 5CDS-5UTR | ENST00000546109 | ENST00000470584 | ZCCHC17 | chr1 | 31821821 | + | NDP | chrX | 43818098 | - |
| 5CDS-5UTR | ENST00000422613 | ENST00000378062 | ZCCHC17 | chr1 | 31821821 | + | NDP | chrX | 43818098 | - |
| 5CDS-5UTR | ENST00000422613 | ENST00000470584 | ZCCHC17 | chr1 | 31821821 | + | NDP | chrX | 43818098 | - |
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FusionProtFeatures for ZCCHC17_NDP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ZCCHC17 | NDP |
| Activates the canonical Wnt signaling pathway throughFZD4 and LRP5 coreceptor. Plays a central role in retinalvascularization by acting as a ligand for FZD4 that signals viastabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediatedtranscriptional programs. Acts in concert with TSPAN12 to activateFZD4 independently of the Wnt-dependent activation of FZD4,suggesting the existence of a Wnt-independent signaling that alsopromote accumulation the beta-catenin (CTNNB1). May be involved ina pathway that regulates neural cell differentiation andproliferation. Possible role in neuroectodermal cell-cellinteraction. |
| 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 ZCCHC17_NDP |
| 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 ZCCHC17_NDP |
| 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 |
| ZCCHC17 | SDCBP2, PNN, CACNA1A, APP, JMJD6, HECW2, KDM1A, SUV39H1, SDCBP, ZDHHC17, ZBTB38, SRPK2, PFKFB2, SAP30, PTTG1, ZMYND8, LAP3, ING3, KIAA1598, CSNK2A2, H2AFY2, SSFA2, CDX1, NOS1AP, HIST1H1T, CSNK2A1, NKAP, ZNF512, MECP2, RNPS1, FTL, BPIFB1, MDK, RRP8, RBM4, IGJ, KNOP1, SRRM2, ZC3H14, IGHA1, POF1B | NDP | PPP1CA, LGALS8, APP, BAG3, FZD4, NDP |
| - 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 ZCCHC17_NDP |
| 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 ZCCHC17_NDP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | NDP | C0266526 | Norrie disease | 30 | CTD_human;ORPHANET;UNIPROT |
| Tgene | NDP | C1844579 | Exudative Vitreoretinopathy, Familial, X-Linked Recessive | 10 | CTD_human;UNIPROT |
| Tgene | NDP | C0036341 | Schizophrenia | 1 | PSYGENET |
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