|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 35194 |
FusionGeneSummary for SNRPA_EIF3I |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SNRPA_EIF3I | Fusion gene ID: 35194 | Hgene | Tgene | Gene symbol | SNRPA | EIF3I | Gene ID | 6626 | 8668 |
| Gene name | small nuclear ribonucleoprotein polypeptide A | eukaryotic translation initiation factor 3 subunit I | |
| Synonyms | Mud1|U1-A|U1A | EIF3S2|PRO2242|TRIP-1|TRIP1|eIF3-beta|eIF3-p36 | |
| Cytomap | 19q13.2 | 1p35.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | U1 small nuclear ribonucleoprotein AU1 small nuclear RNP-specific AU1 snRNP AU1 snRNP-specific protein A | eukaryotic translation initiation factor 3 subunit ITGF-beta receptor-interacting protein 1TGFbeta receptor-interacting protein 1eukaryotic translation initiation factor 3 subunit 2eukaryotic translation initiation factor 3, subunit 2 (beta, 36kD)euk | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P09012 | Q13347 | |
| Ensembl transtripts involved in fusion gene | ENST00000243563, ENST00000599570, | ENST00000373586, ENST00000471486, | |
| Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 4 X 4 X 2=32 |
| # samples | 4 | 4 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SNRPA [Title/Abstract] AND EIF3I [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 | EIF3I | GO:0006413 | translational initiation | 17581632 |
| 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 |
| ChiTaRS3.1 | AU123912 | SNRPA | chr19 | 41265371 | + | EIF3I | chr1 | 32688010 | + |
| * 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 | ENST00000243563 | ENST00000373586 | SNRPA | chr19 | 41265371 | + | EIF3I | chr1 | 32688010 | + |
| 5CDS-intron | ENST00000243563 | ENST00000471486 | SNRPA | chr19 | 41265371 | + | EIF3I | chr1 | 32688010 | + |
| 3UTR-5UTR | ENST00000599570 | ENST00000373586 | SNRPA | chr19 | 41265371 | + | EIF3I | chr1 | 32688010 | + |
| 3UTR-intron | ENST00000599570 | ENST00000471486 | SNRPA | chr19 | 41265371 | + | EIF3I | chr1 | 32688010 | + |
Top |
FusionProtFeatures for SNRPA_EIF3I |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SNRPA | EIF3I |
| Component of the spliceosomal U1 snRNP, which isessential for recognition of the pre-mRNA 5' splice-site and thesubsequent assembly of the spliceosome. U1 snRNP is the firstsnRNP to interact with pre-mRNA. This interaction is required forthe subsequent binding of U2 snRNP and the U4/U6/U5 tri-snRNP.SNRPA binds stem loop II of U1 snRNA. In a snRNP-free form (SF-A)may be involved in coupled pre-mRNA splicing and polyadenylationprocess. May bind preferentially to the 5'-UGCAC-3' motif on RNAs.{ECO:0000269|PubMed:9848648}. | Component of the eukaryotic translation initiationfactor 3 (eIF-3) complex, which is required for several steps inthe initiation of protein synthesis (PubMed:17581632,PubMed:25849773, PubMed:27462815). The eIF-3 complex associateswith the 40S ribosome and facilitates the recruitment of eIF-1,eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNArecruitment to the 43S PIC and scanning of the mRNA for AUGrecognition. The eIF-3 complex is also required for disassemblyand recycling of post-termination ribosomal complexes andsubsequently prevents premature joining of the 40S and 60Sribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of asubset of mRNAs involved in cell proliferation, including cellcycling, differentiation and apoptosis, and uses different modesof RNA stem-loop binding to exert either translational activationor repression (PubMed:25849773). {ECO:0000255|HAMAP-Rule:MF_03008,ECO:0000269|PubMed:17581632, ECO:0000269|PubMed:25849773,ECO:0000269|PubMed:27462815}. |
| 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 SNRPA_EIF3I |
| 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 SNRPA_EIF3I |
| 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 |
| - 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 SNRPA_EIF3I |
| 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 SNRPA_EIF3I |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | EIF3I | C0007621 | Neoplastic Cell Transformation | 2 | CTD_human |
| Tgene | EIF3I | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|