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Fusion gene ID: 23755 |
FusionGeneSummary for NCSTN_SPRR2G |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NCSTN_SPRR2G | Fusion gene ID: 23755 | Hgene | Tgene | Gene symbol | NCSTN | SPRR2G | Gene ID | 23385 | 6706 |
| Gene name | nicastrin | small proline rich protein 2G | |
| Synonyms | ATAG1874 | - | |
| Cytomap | 1q23.2 | 1q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nicastrinanterior pharynx-defective 2 | small proline-rich protein 2GSPR-2G | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q92542 | Q9BYE4 | |
| Ensembl transtripts involved in fusion gene | ENST00000294785, ENST00000368063, ENST00000535857, ENST00000392212, ENST00000459963, ENST00000368065, | ENST00000368748, | |
| Fusion gene scores | * DoF score | 7 X 7 X 4=196 | 3 X 2 X 3=18 |
| # samples | 8 | 3 | |
| ** MAII score | log2(8/196*10)=-1.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: NCSTN [Title/Abstract] AND SPRR2G [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 | NCSTN | GO:0006509 | membrane protein ectodomain proteolysis | 15274632 |
| Hgene | NCSTN | GO:0016485 | protein processing | 15274632 |
| Hgene | NCSTN | GO:0042982 | amyloid precursor protein metabolic process | 25043039|26280335 |
| Hgene | NCSTN | GO:0043085 | positive regulation of catalytic activity | 15274632 |
| 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 | LUAD | TCGA-97-A4M3-01A | NCSTN | chr1 | 160324080 | + | SPRR2G | chr1 | 153122607 | - |
| * 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 | ENST00000294785 | ENST00000368748 | NCSTN | chr1 | 160324080 | + | SPRR2G | chr1 | 153122607 | - |
| 5CDS-5UTR | ENST00000368063 | ENST00000368748 | NCSTN | chr1 | 160324080 | + | SPRR2G | chr1 | 153122607 | - |
| 5CDS-5UTR | ENST00000535857 | ENST00000368748 | NCSTN | chr1 | 160324080 | + | SPRR2G | chr1 | 153122607 | - |
| 5CDS-5UTR | ENST00000392212 | ENST00000368748 | NCSTN | chr1 | 160324080 | + | SPRR2G | chr1 | 153122607 | - |
| 3UTR-5UTR | ENST00000459963 | ENST00000368748 | NCSTN | chr1 | 160324080 | + | SPRR2G | chr1 | 153122607 | - |
| 5CDS-5UTR | ENST00000368065 | ENST00000368748 | NCSTN | chr1 | 160324080 | + | SPRR2G | chr1 | 153122607 | - |
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FusionProtFeatures for NCSTN_SPRR2G |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NCSTN | SPRR2G |
| Essential subunit of the gamma-secretase complex, anendoprotease complex that catalyzes the intramembrane cleavage ofintegral membrane proteins such as Notch receptors and APP(amyloid-beta precursor protein) (PubMed:10993067,PubMed:12679784, PubMed:25043039, PubMed:26280335). The gamma-secretase complex plays a role in Notch and Wnt signaling cascadesand regulation of downstream processes via its role in processingkey regulatory proteins, and by regulating cytosolic CTNNB1levels. {ECO:0000269|PubMed:10993067, ECO:0000269|PubMed:12679784,ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335}. | Cross-linked envelope protein of keratinocytes. It is akeratinocyte protein that first appears in the cell cytosol, butultimately becomes cross-linked to membrane proteins bytransglutaminase. All that results in the formation of aninsoluble envelope beneath the plasma membrane (By similarity).{ECO:0000250}. |
| 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 NCSTN_SPRR2G |
| 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 NCSTN_SPRR2G |
| 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 |
| NCSTN | APH1A, PSEN1, PSENEN, PSEN2, APP, BACE1, ELAVL1, SPP1, FBXO6, ATP6V1B1, RPS14, THRAP3, RAD50, SRSF11, SEPT7, SEPT2, FTSJ3, USP39, UTP14A, RPS11, RBM25, PRPF6, SRSF10, RRS1, TRA2A, TRIM55, RRP7A, PSIP1, NUMA1, NOP56, TOP1, PHGDH, SURF4, RCC1, TOP2B, PRPF40A, SMARCC2, SRSF1, RFC4, SAP18, NOP58, SUPT16H, U2AF1, NOP16, SLC27A2, RCC2, BCAS2, NOP2, PCDHA2, TPBG, GTF3C1, S100A9, SNRPD2, SSRP1, RPS7, IK, DPF2, SMARCA5, SMARCB1, LMNB1, LAMP2, SART1, TRMT112, WDR18, RSL1D1, SMU1, ZC3H18, HNRNPU, RAB31, MYBBP1A, SAFB, TMEM14B, HNRNPR, APH1B, ERLIN2, GSAP, LGALS3, HNRNPF, KHDRBS1, NTRK1, EWSR1, ALDOA, SLC25A5, ATP1A1, ATP2A2, ATP5A1, BSG, NDUFB5, SLC2A1, SLC7A5, SLC25A12, TRIP13, TTI1, TOMM20, SCAMP3, RPP38, SPTLC1, EBP, YIF1A, MAGED2, PRSS21, IMMT, ELL2, PNKD, TCTN3, CRNKL1, TRMT6, ESYT2, SQRDL, SRPRB, FASTKD5, FAM111A, MMS19, WLS, CLPTM1L, MAGT1, C19orf52, SFXN1, ACTA1, ALOX5, MICAL1, RRAS, SRC, PAG1, EEF1A2, EEPD1, PTPRG, VASN, AHNAK2, EPHA2, YES1, RAP2A, NCAM1 | SPRR2G | SUZ12 |
| - 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 NCSTN_SPRR2G |
| 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 NCSTN_SPRR2G |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NCSTN | C1840560 | Hidradenitis suppurativa, familial | 2 | CTD_human;UNIPROT |
| Hgene | NCSTN | C0002395 | Alzheimer's Disease | 1 | CTD_human |
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