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Fusion gene ID: 31250 |
FusionGeneSummary for RILPL1_SARNP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RILPL1_SARNP | Fusion gene ID: 31250 | Hgene | Tgene | Gene symbol | RILPL1 | SARNP | Gene ID | 353116 | 84324 |
| Gene name | Rab interacting lysosomal protein like 1 | SAP domain containing ribonucleoprotein | |
| Synonyms | GOSPEL|RLP1 | CIP29|HCC1|HSPC316|THO1 | |
| Cytomap | 12q24.31 | 12q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | RILP-like protein 1GAPDH competitor of SIAH protein enhances life | SAP domain-containing ribonucleoproteincytokine induced protein 29 kDacytokine-induced protein of 29 kDahepatocellular carcinoma 1nuclear protein Hcc-1proliferation associated cytokine-inducible protein CIP29 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q5EBL4 | P82979 | |
| Ensembl transtripts involved in fusion gene | ENST00000376874, ENST00000340724, ENST00000544468, | ENST00000444631, ENST00000336133, ENST00000552080, | |
| Fusion gene scores | * DoF score | 9 X 7 X 4=252 | 11 X 5 X 6=330 |
| # samples | 9 | 9 | |
| ** MAII score | log2(9/252*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/330*10)=-1.87446911791614 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RILPL1 [Title/Abstract] AND SARNP [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 | SARNP | GO:0006406 | mRNA export from nucleus | 20844015 |
| 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-A8-A0A4-01A | RILPL1 | chr12 | 123968727 | - | SARNP | chr12 | 56151337 | - |
| * 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 | ENST00000376874 | ENST00000444631 | RILPL1 | chr12 | 123968727 | - | SARNP | chr12 | 56151337 | - |
| Frame-shift | ENST00000376874 | ENST00000336133 | RILPL1 | chr12 | 123968727 | - | SARNP | chr12 | 56151337 | - |
| 5CDS-intron | ENST00000376874 | ENST00000552080 | RILPL1 | chr12 | 123968727 | - | SARNP | chr12 | 56151337 | - |
| Frame-shift | ENST00000340724 | ENST00000444631 | RILPL1 | chr12 | 123968727 | - | SARNP | chr12 | 56151337 | - |
| Frame-shift | ENST00000340724 | ENST00000336133 | RILPL1 | chr12 | 123968727 | - | SARNP | chr12 | 56151337 | - |
| 5CDS-intron | ENST00000340724 | ENST00000552080 | RILPL1 | chr12 | 123968727 | - | SARNP | chr12 | 56151337 | - |
| Frame-shift | ENST00000544468 | ENST00000444631 | RILPL1 | chr12 | 123968727 | - | SARNP | chr12 | 56151337 | - |
| Frame-shift | ENST00000544468 | ENST00000336133 | RILPL1 | chr12 | 123968727 | - | SARNP | chr12 | 56151337 | - |
| 5CDS-intron | ENST00000544468 | ENST00000552080 | RILPL1 | chr12 | 123968727 | - | SARNP | chr12 | 56151337 | - |
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FusionProtFeatures for RILPL1_SARNP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RILPL1 | SARNP |
| Plays a role in the regulation of cell shape andpolarity. Plays a role in cellular protein transport, includingprotein transport away from primary cilia. Neuroprotectiveprotein, which acts by sequestring GAPDH in the cytosol andprevent the apoptotic function of GAPDH in the nucleus. Competeswith SIAH1 for binding GAPDH (By similarity). Does not regulatelysosomal morphology and distribution. {ECO:0000250}. | Binds both single-stranded and double-stranded DNA withhigher affinity for the single-stranded form. Specifically bindsto scaffold/matrix attachment region DNA. Also binds single-stranded RNA. Enhances RNA unwinding activity of DDX39A. Mayparticipate in important transcriptional or translational controlof cell growth, metabolism and carcinogenesis. Component of theTREX complex which is thought to couple mRNA transcription,processing and nuclear export, and specifically associates withspliced mRNA and not with unspliced pre-mRNA. TREX is recruited tospliced mRNAs by a transcription-independent mechanism, binds tomRNA upstream of the exon-junction complex (EJC) and is recruitedin a splicing- and cap-dependent manner to a region near the 5'end of the mRNA where it functions in mRNA export to the cytoplasmvia the TAP/NFX1 pathway. The TREX complex is essential for theexport of Kaposi's sarcoma-associated herpesvirus (KSHV)intronless mRNAs and infectious virus production.{ECO:0000269|PubMed:15338056, ECO:0000269|PubMed:17196963,ECO:0000269|PubMed:20844015}. |
| 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 RILPL1_SARNP |
| 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 RILPL1_SARNP |
| 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 |
| RILPL1 | MOV10 | SARNP | DDX39A, FUS, CSNK2B, CDK2, VHL, MRPL14, MRRF, VDAC3, NABP2, SRCAP, TIMM44, TAGLN, ZC3H11A, UBL4A, SBDS, MPLKIP, TBL2, MRPS31, STX7, SRPRB, THY1, SRRM2, RBMS1, SNRPC, TPX2, ACAA1, UBE2I, UBE4B, TIAL1, HSPD1, FN1, PLCG1, RIC8A, CSTB, DPP7, YARS, WDR61, ESR1, DNAJC14, EWSR1, THOC1, MPP1, PFKFB2, THOC2, THOC7, LIMK1, U2AF2, CCDC9, ZC3H14, FYTTD1, KBTBD7, ACIN1, CHTOP, C17orf85, RNPS1, PPIG, POLDIP3, MAGOH, PPP2R2D, PNN, CRIP2, THOC5, CPVL, EIF4A3, WDR45B, COPZ1, SUB1, CHORDC1, DIS3, SEPT7, PRCC, CDK5, SH3GLB1, DRG1, SCYL2, PDHA1 |
| - 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 RILPL1_SARNP |
| 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 RILPL1_SARNP |
| 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)
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