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Fusion gene ID: 28836 |
FusionGeneSummary for PROM1_HSD17B11 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PROM1_HSD17B11 | Fusion gene ID: 28836 | Hgene | Tgene | Gene symbol | PROM1 | HSD17B11 | Gene ID | 8842 | 51170 |
| Gene name | prominin 1 | hydroxysteroid 17-beta dehydrogenase 11 | |
| Synonyms | AC133|CD133|CORD12|MCDR2|MSTP061|PROML1|RP41|STGD4 | 17-BETA-HSD11|17-BETA-HSDXI|17BHSD11|DHRS8|PAN1B|RETSDR2|SDR16C2 | |
| Cytomap | 4p15.32 | 4q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | prominin-1antigen AC133hPromininhematopoietic stem cell antigenprominin-like protein 1 | estradiol 17-beta-dehydrogenase 1117-beta-hydroxysteroid dehydrogenase type XICTCL tumor antigen HD-CL-03CTCL-associated antigen HD-CL-03cutaneous T-cell lymphoma-associated antigen HD-CL-03dehydrogenase/reductase SDR family member 8retinal short-ch | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O43490 | Q8NBQ5 | |
| Ensembl transtripts involved in fusion gene | ENST00000540805, ENST00000539194, ENST00000447510, ENST00000505450, ENST00000508167, ENST00000510224, ENST00000543373, ENST00000502943, | ENST00000358290, ENST00000507518, ENST00000507286, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 3 X 1=9 |
| # samples | 1 | 3 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PROM1 [Title/Abstract] AND HSD17B11 [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 | HSD17B11 | GO:0006710 | androgen catabolic process | 12697717 |
| 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 | BF825079 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| * 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 |
| intron-intron | ENST00000540805 | ENST00000358290 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000540805 | ENST00000507518 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000540805 | ENST00000507286 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000539194 | ENST00000358290 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000539194 | ENST00000507518 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000539194 | ENST00000507286 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000447510 | ENST00000358290 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000447510 | ENST00000507518 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000447510 | ENST00000507286 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000505450 | ENST00000358290 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000505450 | ENST00000507518 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000505450 | ENST00000507286 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000508167 | ENST00000358290 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000508167 | ENST00000507518 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000508167 | ENST00000507286 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000510224 | ENST00000358290 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000510224 | ENST00000507518 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000510224 | ENST00000507286 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000543373 | ENST00000358290 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000543373 | ENST00000507518 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000543373 | ENST00000507286 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000502943 | ENST00000358290 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000502943 | ENST00000507518 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
| intron-intron | ENST00000502943 | ENST00000507286 | PROM1 | chr4 | 15970941 | - | HSD17B11 | chr4 | 88289159 | - |
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FusionProtFeatures for PROM1_HSD17B11 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PROM1 | HSD17B11 |
| May play a role in cell differentiation, proliferationand apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in theorganization of the apical plasma membrane in epithelial cells.During early retinal development acts as a key regulator of diskmorphogenesis. Involved in regulation of MAPK and Akt signalingpathways. In neuroblastoma cells suppresses cell differentiationsuch as neurite outgrowth in a RET-dependent manner(PubMed:20818439). {ECO:0000269|PubMed:20818439,ECO:0000269|PubMed:24556617}. | Can convert androstan-3-alpha,17-beta-diol (3-alpha-diol) to androsterone in vitro, suggesting that it may participatein androgen metabolism during steroidogenesis. May act bymetabolizing compounds that stimulate steroid synthesis and/or bygenerating metabolites that inhibit it. Has no activity towardDHEA (dehydroepiandrosterone), or A-dione (4-androste-3,17-dione),and only a slight activity toward testosterone to A-dione. Tumor-associated antigen in cutaneous T-cell lymphoma. |
| 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 PROM1_HSD17B11 |
| 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 PROM1_HSD17B11 |
| 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 |
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RelatedDrugs for PROM1_HSD17B11 |
| 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 PROM1_HSD17B11 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PROM1 | C0017636 | Glioblastoma | 3 | CTD_human |
| Hgene | PROM1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Hgene | PROM1 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | PROM1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Hgene | PROM1 | C0042138 | Uterine Neoplasms | 1 | CTD_human |
| Hgene | PROM1 | C0206627 | Mixed Tumor, Mullerian | 1 | CTD_human |
| Hgene | PROM1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Hgene | PROM1 | C2675210 | CONE-ROD DYSTROPHY 12 (disorder) | 1 | CTD_human;UNIPROT |
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