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Fusion gene ID: 16036 |
FusionGeneSummary for HECTD1_PRPF39 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HECTD1_PRPF39 | Fusion gene ID: 16036 | Hgene | Tgene | Gene symbol | HECTD1 | PRPF39 | Gene ID | 25831 | 55015 |
| Gene name | HECT domain E3 ubiquitin protein ligase 1 | pre-mRNA processing factor 39 | |
| Synonyms | EULIR | - | |
| Cytomap | 14q12 | 14q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase HECTD1E3 ligase for inhibin receptorHECT domain containing E3 ubiquitin protein ligase 1HECT domain-containing protein 1HECT-type E3 ubiquitin transferase HECTD1 | pre-mRNA-processing factor 39PRP39 homologPRP39 pre-mRNA processing factor 39 homolog | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9ULT8 | Q86UA1 | |
| Ensembl transtripts involved in fusion gene | ENST00000399332, ENST00000553700, ENST00000556474, | ENST00000355765, | |
| Fusion gene scores | * DoF score | 8 X 8 X 5=320 | 2 X 2 X 2=8 |
| # samples | 12 | 2 | |
| ** MAII score | log2(12/320*10)=-1.41503749927884 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: HECTD1 [Title/Abstract] AND PRPF39 [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 | LD | BRCA | TCGA-AR-A0TV-01A | HECTD1 | chr14 | 31675003 | - | PRPF39 | chr14 | 45564424 | + |
| * 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 | ENST00000399332 | ENST00000355765 | HECTD1 | chr14 | 31675003 | - | PRPF39 | chr14 | 45564424 | + |
| 5CDS-5UTR | ENST00000553700 | ENST00000355765 | HECTD1 | chr14 | 31675003 | - | PRPF39 | chr14 | 45564424 | + |
| 5UTR-5UTR | ENST00000556474 | ENST00000355765 | HECTD1 | chr14 | 31675003 | - | PRPF39 | chr14 | 45564424 | + |
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FusionProtFeatures for HECTD1_PRPF39 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HECTD1 | PRPF39 |
| E3 ubiquitin-protein ligase which accepts ubiquitin froman E2 ubiquitin-conjugating enzyme in the form of a thioester andthen directly transfers the ubiquitin to targeted substrates.Mediates 'Lys-63'-linked polyubiquitination of HSP90AA1 whichleads to its intracellular localization and reduced secretion.Negatively regulating HSP90AA1 secretion in cranial mesenchymecells may impair their emigration and may be essential for thecorrect development of the cranial neural folds and neural tubeclosure. {ECO:0000250|UniProtKB:Q69ZR2}. | Involved in pre-mRNA splicing. {ECO:0000250}. |
| 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 HECTD1_PRPF39 |
| 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 HECTD1_PRPF39 |
| 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 |
| HECTD1 | ZRANB1, IGSF1, SIRT7, APC, YWHAQ, ANKRD28, BTF3L4, KIAA0101, TCEAL4, TPM2, PPP2R5D, PRDX1, RIOK2, ZNF622, SHFM1, UBC, AARSD1, TP53, TUBGCP3, DIRAS3, C9orf24, GEM, RASSF6, DNM3, ATP6V1C2, BMP15, SETDB1, AP1M2, TTLL1, CAMKMT, ZNHIT3, HSPB1, FBXW11, NIN, RPGRIP1L, DYNLT1, FBXW7, ESR1, NCAPG, SMC2, SMC4, NCAPH, NCAPD2, NCAPH2, HECTD1, UBE2D3, IQGAP1, EPB41L5, ZNF695, CINP, CAPN6, ZNF223, GMNN, HIF1AN, MTNR1B, TRIM25 | PRPF39 | HDAC5, CUL3, CUL5, CUL2, COPS5, CAND1, TSEN2, WDR44, BANP, TRNAU1AP, FBXW11, FOXS1, KCTD15, ZNF318, BRCA1 |
| - 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 HECTD1_PRPF39 |
| 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 HECTD1_PRPF39 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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