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Fusion gene ID: 35168 |
FusionGeneSummary for SNRNP200_NAALADL2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: SNRNP200_NAALADL2 | Fusion gene ID: 35168 | Hgene | Tgene | Gene symbol | SNRNP200 | NAALADL2 | Gene ID | 23020 | 254827 |
Gene name | small nuclear ribonucleoprotein U5 subunit 200 | N-acetylated alpha-linked acidic dipeptidase like 2 | |
Synonyms | ASCC3L1|BRR2|HELIC2|RP33|U5-200KD | - | |
Cytomap | 2q11.2 | 3q26.31 | |
Type of gene | protein-coding | protein-coding | |
Description | U5 small nuclear ribonucleoprotein 200 kDa helicaseBRR2 homologU5 snRNP-specific 200 kDa proteinactivating signal cointegrator 1 complex subunit 3-like 1bad response to refrigeration 2 homologsmall nuclear ribonucleoprotein 200kDa (U5)small nuclear | inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2N-acetylated alpha-linked acidic dipeptidase 2NAALADase L2glutamate carboxypeptidase II-type non-peptidase homologue | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | O75643 | Q58DX5 | |
Ensembl transtripts involved in fusion gene | ENST00000323853, ENST00000349783, | ENST00000454872, ENST00000473253, | |
Fusion gene scores | * DoF score | 4 X 6 X 2=48 | 15 X 8 X 7=840 |
# samples | 6 | 15 | |
** MAII score | log2(6/48*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(15/840*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SNRNP200 [Title/Abstract] AND NAALADL2 [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 | SNRNP200 | GO:0000398 | mRNA splicing, via spliceosome | 8670905 |
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 | PRAD | TCGA-EJ-5497-01A | SNRNP200 | chr2 | 96971131 | - | NAALADL2 | chr3 | 175165017 | + |
* 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 | ENST00000323853 | ENST00000454872 | SNRNP200 | chr2 | 96971131 | - | NAALADL2 | chr3 | 175165017 | + |
5CDS-3UTR | ENST00000323853 | ENST00000473253 | SNRNP200 | chr2 | 96971131 | - | NAALADL2 | chr3 | 175165017 | + |
Frame-shift | ENST00000349783 | ENST00000454872 | SNRNP200 | chr2 | 96971131 | - | NAALADL2 | chr3 | 175165017 | + |
5CDS-3UTR | ENST00000349783 | ENST00000473253 | SNRNP200 | chr2 | 96971131 | - | NAALADL2 | chr3 | 175165017 | + |
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FusionProtFeatures for SNRNP200_NAALADL2 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SNRNP200 | NAALADL2 |
RNA helicase that plays an essential role in pre-mRNAsplicing as component of the U5 snRNP and U4/U6-U5 tri-snRNPcomplexes. Involved in spliceosome assembly, activation anddisassembly. Mediates changes in the dynamic network of RNA-RNAinteractions in the spliceosome. Catalyzes the ATP-dependentunwinding of U4/U6 RNA duplices, an essential step in the assemblyof a catalytically active spliceosome.{ECO:0000269|PubMed:16723661, ECO:0000269|PubMed:23045696,ECO:0000269|PubMed:8670905, ECO:0000269|PubMed:9539711}. | May be catalytically inactive. |
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 SNRNP200_NAALADL2 |
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 SNRNP200_NAALADL2 |
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 |
SNRNP200 | CD2BP2, SNRNP40, RNPS1, SNRPB, MCC, YWHAG, PRKAB1, MYC, RNU11, SMNDC1, USP39, MEPCE, TCEA1, APC, SRRM1, HDAC5, RBM39, TOP1, GRB2, IRAK1, IRAK2, TIRAP, MEGF10, SF3A2, CDC5L, SIRT7, HNRNPA1, ISG15, CUL3, CUL5, CUL2, COPS5, DCUN1D1, CAND1, CHMP1B, RNU4ATAC, RNU6ATAC, SART1, PRPF6, EFTUD2, SNRNP200, PRPF8, SNRPA1, SF3B3, SF3B1, HNRNPR, U2AF2, HNRNPC, HNRNPU, SRSF1, SNRPD1, SNRPD2, SNRPD3, SF3A1, SNRNP70, SNRPB2, YBX1, PABPC1, BCAS2, PRPF19, KIAA1429, TUBB, THOC6, CRNKL1, PDCD7, YEATS2, AAR2, UBR4, HUWE1, PSMC2, ZBTB10, USP9X, TOP2B, TUBA1B, CPT1A, BARD1, BRCA1, ECT2, EIF4A3, MAGOH, HSP90AA1, FN1, VCAM1, SF3B2, LSM8, RNF113A, RBM5, ITGA4, USP19, PRPF4B, FBXO6, TARDBP, PARK2, PIN1, KIAA1033, POLR2H, ELP3, TSC22D1, USP34, WDHD1, RPA1, RPA2, RPA3, WWOX, ERG, LGR4, STAU1, CDKN1A, EMD, PHF6, CUL7, OBSL1, CCDC8, UBE2I, EZH2, SUZ12, EED, RNF2, SIRT6, GCFC2, DDX23, TSSC4, EAPP, ZMYND11, HSPB1, NTRK1, BPTF, RANBP2, SF3A3, DHX15, LUC7L2, MED12, PRPF31, PRPF4, SNW1, TFAP4, XAB2, SNRPE, SRRM2, RNU12, BLM, SNCA, RAB4B, FERMT3, FOXG1, FOXK2, CRY2, FOXM1, FOXQ1, MCM2, MCM5, USP37, RC3H1, TTC27, C1orf131, C9orf78, DPF3, ZNF746, SNRPN, SNRPF, SNRPG, KIAA1143, ECD, GPR156, CDH5, USB1, PRPF3, GPBP1L1, ZBTB46, SMU1, RIOK1, NCL, ZNHIT2, RUVBL1, RUVBL2, SLC7A6OS, WDR92, MTF1 | NAALADL2 | CUL3, APP, GPR25, GRM2, SLC30A3, ITM2B, LAPTM4B, SCAP, KLC2, NAALAD2, KCTD17, IGSF3, ERBB2, KCNJ8, CELSR2, SCARB2, HLA-DRB1 |
- 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 SNRNP200_NAALADL2 |
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 SNRNP200_NAALADL2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SNRNP200 | C1835895 | RETINITIS PIGMENTOSA 33 (disorder) | 5 | CTD_human;UNIPROT |