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Fusion gene ID: 30711 |
FusionGeneSummary for RBM17_PSAP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RBM17_PSAP | Fusion gene ID: 30711 | Hgene | Tgene | Gene symbol | RBM17 | PSAP | Gene ID | 84991 | 729238 |
| Gene name | RNA binding motif protein 17 | surfactant protein A2 | |
| Synonyms | SPF45 | COLEC5|PSAP|PSP-A|PSPA|SFTP1|SFTPA2B|SP-2A|SP-A|SPA2|SPAII | |
| Cytomap | 10p15.1 | 10q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | splicing factor 4545 kDa-splicing factorsplicing factor 45kDa | pulmonary surfactant-associated protein A235 kDa pulmonary surfactant-associated proteinalveolar proteinosis proteincollectin 5surfactant, pulmonary-associated protein A2A | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q96I25 | P07602 | |
| Ensembl transtripts involved in fusion gene | ENST00000379888, ENST00000446108, ENST00000476706, | ENST00000394936, ENST00000394934, | |
| Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 12 X 17 X 4=816 |
| # samples | 4 | 18 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(18/816*10)=-2.18057224564182 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RBM17 [Title/Abstract] AND PSAP [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 |
| 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 | BLCA | TCGA-CU-A0YO-01A | RBM17 | chr10 | 6131156 | + | PSAP | chr10 | 73594262 | - |
| * 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 |
| 5UTR-3CDS | ENST00000379888 | ENST00000394936 | RBM17 | chr10 | 6131156 | + | PSAP | chr10 | 73594262 | - |
| 5UTR-3CDS | ENST00000379888 | ENST00000394934 | RBM17 | chr10 | 6131156 | + | PSAP | chr10 | 73594262 | - |
| intron-3CDS | ENST00000446108 | ENST00000394936 | RBM17 | chr10 | 6131156 | + | PSAP | chr10 | 73594262 | - |
| intron-3CDS | ENST00000446108 | ENST00000394934 | RBM17 | chr10 | 6131156 | + | PSAP | chr10 | 73594262 | - |
| intron-3CDS | ENST00000476706 | ENST00000394936 | RBM17 | chr10 | 6131156 | + | PSAP | chr10 | 73594262 | - |
| intron-3CDS | ENST00000476706 | ENST00000394934 | RBM17 | chr10 | 6131156 | + | PSAP | chr10 | 73594262 | - |
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FusionProtFeatures for RBM17_PSAP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RBM17 | PSAP |
| Splice factor that binds to the single-stranded 3'AG atthe exon/intron border and promotes its utilization in the secondcatalytic step. Involved in the regulation of alternative splicingand the utilization of cryptic splice sites. Promotes theutilization of a cryptic splice site created by the beta-110mutation in the HBB gene. The resulting frameshift leads to sicklecell anemia. {ECO:0000269|PubMed:12015979,ECO:0000269|PubMed:17589525}. |
| 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 RBM17_PSAP |
| 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 RBM17_PSAP |
| 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 |
| RBM17 | SAT1, SF3A2, ELAVL1, CUL3, CDK2, HINFP, BARD1, MDC1, SMURF1, SF3B1, DHX15, U2SURP, SF1, SUGP1, CWC15, SAP30BP, CSNK2A1, APBB1, GOLGA2, CCHCR1, PPP1R12C, QRICH1, CEP55, KIAA1683, FAM9B, OBSL1, WDFY2, ZRSR2, SON, LNX2, XPO1, HIST1H3E, MYO1C, PPP3CB, XRCC3, EMC2, MMGT1, SNW1, CDC5L, DPPA4, NANOG, POU5F1, CHERP, ZRSR1, SFSWAP, RBM5, GPATCH11, SF3A3, SF3A1, SF3B2, ACTA2, ACTBL2, RBM10, CYLD, FOXA1 | PSAP | CELSR1, SGK223, MAFF, COPS6, CTSD, PSAP, UBE3A, ZBED1, USP4, TCERG1, SMARCC2, SAP18, PLAUR, SNAP23, NUP133, DNAJA1, SURF4, GDAP1, U2AF1, SNRPA1, SUMO2, SNCA, SRSF5, SSR1, THRAP3, BRCA1, SMAD9, SMAD2, CFTR, FBXO6, BAG3, BCAT1, C1QBP, GTF2F1, LAMB2, MVP, USP48, VPS29, VPS35, ERBB2, NLGN3, SOD1 |
| - 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 RBM17_PSAP |
| 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 RBM17_PSAP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RBM17 | C0087012 | Ataxia, Spinocerebellar | 1 | CTD_human |
| Tgene | PSAP | C0268262 | Metachromatic Leukodystrophy due to Saposin B Deficiency | 5 | CTD_human;UNIPROT |
| Tgene | PSAP | C1864651 | GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY | 2 | CTD_human;ORPHANET;UNIPROT |
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