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Fusion gene ID: 16049 |
FusionGeneSummary for HECTD4_PEBP1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: HECTD4_PEBP1 | Fusion gene ID: 16049 | Hgene | Tgene | Gene symbol | HECTD4 | PEBP1 | Gene ID | 283450 | 5037 |
Gene name | HECT domain E3 ubiquitin protein ligase 4 | phosphatidylethanolamine binding protein 1 | |
Synonyms | C12ord51|C12orf51|HEEL|POTAGE | HCNP|HCNPpp|HEL-210|HEL-S-34|HEL-S-96|PBP|PEBP|PEBP-1|RKIP | |
Cytomap | 12q24.13 | 12q24.23 | |
Type of gene | protein-coding | protein-coding | |
Description | probable E3 ubiquitin-protein ligase HECTD4AF-1 specific protein phosphataseHECT domain containing E3 ubiquitin protein ligase 4HECT domain-containing protein 4HECT-type E3 ubiquitin transferase HECTD4probable E3 ubiquitin-protein ligase C12orf51tra | phosphatidylethanolamine-binding protein 1Raf kinase inhibitory proteinepididymis luminal protein 210epididymis secretory protein Li 34epididymis secretory protein Li 96hippocampal cholinergic neurostimulating peptideneuropolypeptide h3prostatic bi | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q9Y4D8 | P30086 | |
Ensembl transtripts involved in fusion gene | ENST00000377560, ENST00000430131, ENST00000550722, ENST00000549141, | ENST00000261313, ENST00000542939, | |
Fusion gene scores | * DoF score | 15 X 9 X 9=1215 | 6 X 4 X 4=96 |
# samples | 14 | 6 | |
** MAII score | log2(14/1215*10)=-3.11745758154818 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/96*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: HECTD4 [Title/Abstract] AND PEBP1 [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 | LUSC | TCGA-34-5232-01A | HECTD4 | chr12 | 112743868 | - | PEBP1 | chr12 | 118575844 | + |
* 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 | ENST00000377560 | ENST00000261313 | HECTD4 | chr12 | 112743868 | - | PEBP1 | chr12 | 118575844 | + |
5CDS-intron | ENST00000377560 | ENST00000542939 | HECTD4 | chr12 | 112743868 | - | PEBP1 | chr12 | 118575844 | + |
In-frame | ENST00000430131 | ENST00000261313 | HECTD4 | chr12 | 112743868 | - | PEBP1 | chr12 | 118575844 | + |
5CDS-intron | ENST00000430131 | ENST00000542939 | HECTD4 | chr12 | 112743868 | - | PEBP1 | chr12 | 118575844 | + |
Frame-shift | ENST00000550722 | ENST00000261313 | HECTD4 | chr12 | 112743868 | - | PEBP1 | chr12 | 118575844 | + |
5CDS-intron | ENST00000550722 | ENST00000542939 | HECTD4 | chr12 | 112743868 | - | PEBP1 | chr12 | 118575844 | + |
intron-3CDS | ENST00000549141 | ENST00000261313 | HECTD4 | chr12 | 112743868 | - | PEBP1 | chr12 | 118575844 | + |
intron-intron | ENST00000549141 | ENST00000542939 | HECTD4 | chr12 | 112743868 | - | PEBP1 | chr12 | 118575844 | + |
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FusionProtFeatures for HECTD4_PEBP1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
HECTD4 | PEBP1 |
Binds ATP, opioids and phosphatidylethanolamine. Haslower affinity for phosphatidylinositol and phosphatidylcholine.Serine protease inhibitor which inhibits thrombin, neuropsin andchymotrypsin but not trypsin, tissue type plasminogen activatorand elastase (By similarity). Inhibits the kinase activity of RAF1by inhibiting its activation and by dissociating the RAF1/MEKcomplex and acting as a competitive inhibitor of MEKphosphorylation. {ECO:0000250, ECO:0000269|PubMed:18294816}. HCNP may be involved in the function of the presynapticcholinergic neurons of the central nervous system. HCNP increasesthe production of choline acetyltransferase but notacetylcholinesterase. Seems to be mediated by a specific receptor(By similarity). {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 HECTD4_PEBP1 |
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. |
>In-frame_HECTD4_ENST00000430131_chr12_112743868_-_PEBP1_ENST00000261313_chr12_118575844_+_194aa MPANHLPIGSTMSTVHLSSDGTYFYWIWSPASLNEKTPKGHSVFMDIFELVVKNRPTSISWDGLDSGKLYTLVLTDPDAPSRKDPKYREW HHFLVVNMKGNDISSGTVLSDYVGSGPPKGTGLHRYVWLVYEQDRPLKCDEPILSNRSGDHRGKFKVASFRKKYELRAPVAGTCYQAEWD |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_HECTD4_ENST00000430131_chr12_112743868_-_PEBP1_ENST00000261313_chr12_118575844_+_582nt ATGCCAGCCAATCACCTCCCCATTGGCAGCACCATGAGCACTGTGCACCTGTCTTCAGATGGCACTTACTTCTATTGGATCTGGTCTCCT GCCAGCCTGAATGAGAAAACACCGAAGGGACATTCTGTCTTCATGGACATTTTTGAACTTGTGGTTAAGAATAGACCCACCAGCATTTCG TGGGATGGTCTTGATTCAGGGAAGCTCTACACCTTGGTCCTGACAGACCCGGATGCTCCCAGCAGGAAGGATCCCAAATACAGAGAATGG CATCATTTCCTGGTGGTCAACATGAAGGGCAATGACATCAGCAGTGGCACAGTCCTCTCCGATTATGTGGGCTCGGGGCCTCCCAAGGGC ACAGGCCTCCACCGCTATGTCTGGCTGGTTTACGAGCAGGACAGGCCGCTAAAGTGTGACGAGCCCATCCTCAGCAACCGATCTGGAGAC CACCGTGGCAAATTCAAGGTGGCGTCCTTCCGTAAAAAGTATGAGCTCAGGGCCCCGGTGGCTGGCACGTGTTACCAGGCCGAGTGGGAT |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_HECTD4_ENST00000430131_chr12_112743868_-_PEBP1_ENST00000261313_chr12_118575844_+_2509nt GCGGCCGCTGACTCGGCGCAGTGGCTCTCGGTGAAGGAAGAGACCATCTTCCTGCACGACGGGCTGATCCGGGTCACCGACCTGGCCGAG CTGCCCAGCGAGATCCTCGGGGCCCCAGAGGCCGCGGACACCGACCTGGAGATTTTAACCTTTGAGACCAAGAACCCGTCGGAATTAGCA GAACGTTTGCGCTCTGTTTGTGGGAATCAGAGCAATGCCTATGCCCGGCTGCTGGAATACCGCCTGAATGCCTTGCGAGGACTGTGGAAT GCCCAGCGCCAGCTGGCCTTAGAAGAACAGCATGAAAGGGAAAGTTCAGGTGATGAGGAAACTTTGGCCCTGCTCAAACGCCAGGGCTTG TTGCAGCAACCTGAGCAAGCGCCCTTCACATCGAGGATGGGGCTCCTGCTGGTCTTCCCCCTTATTCAGTCCCAGAGTAGAACAGACCCC TCTCTCTGTAACATAACTGCTGAGGTGCTATTGAACTGCCTTCGTGACTGCCAGCCTTTGAGCTTGACCAAGGAGCCTGCTGACTGTCTC AATGGAATTGAAACTTTGCTGTGCTCTTGGCTAGAGGAGACTTCTGACACAGGCCGACACATCCCACATAAGCAAAAAGAAAATGCTGCT GCTGCCCTGGTGGCTTTGGCTTGTGCCAGGGGATCATTGAAAACTTTCGTCCACACAGTCCATCTATTACAGAAACAGACGGATCTAGGG TCCCTGCCTGTAGCTGATGTGCTATATAGGCTGTTGCTTTTGGAAGGGGGGCCTGGATCTCCCTCCTGTTTGCTTGGGGGCAAACACATA GTATCATGGGGTTATGAAGACATGTTGCCTGCGCCGGATAGCAACACTGGCTCCAGTTCTGAAAATAAAGATGCTGACTTGGGACGCTGT CTCACGGCAGATGGTCTTTACCTGTATACTACTAACTCAGTTGGAAGAGGAGTAAGCAAATTGGGATCTGGATTACATGGTACTCTCAGA GGTTTTGTGTACTGCCGGAACGAGGAGTTGGAACCAGGATGGGTGGCTTTTGGCAGCGGCAGTCTTCTCCACCGGCCTGTCTCTTTCGAT AATAAACCTCACTCCCTTTTCCAGGTCATTGACCAGAACACCCTTCAGGTGTGCCAGGTGGTGCCAATGCCAGCCAATCACCTCCCCATT GGCAGCACCATGAGCACTGTGCACCTGTCTTCAGATGGCACTTACTTCTATTGGATCTGGTCTCCTGCCAGCCTGAATGAGAAAACACCG AAGGGACATTCTGTCTTCATGGACATTTTTGAACTTGTGGTTAAGAATAGACCCACCAGCATTTCGTGGGATGGTCTTGATTCAGGGAAG CTCTACACCTTGGTCCTGACAGACCCGGATGCTCCCAGCAGGAAGGATCCCAAATACAGAGAATGGCATCATTTCCTGGTGGTCAACATG AAGGGCAATGACATCAGCAGTGGCACAGTCCTCTCCGATTATGTGGGCTCGGGGCCTCCCAAGGGCACAGGCCTCCACCGCTATGTCTGG CTGGTTTACGAGCAGGACAGGCCGCTAAAGTGTGACGAGCCCATCCTCAGCAACCGATCTGGAGACCACCGTGGCAAATTCAAGGTGGCG TCCTTCCGTAAAAAGTATGAGCTCAGGGCCCCGGTGGCTGGCACGTGTTACCAGGCCGAGTGGGATGACTATGTGCCCAAACTGTACGAG CAGCTGTCTGGGAAGTAGGGGGTTAGCTTGGGGACCTGAACTGTCCTGGAGGCCCCAAGCCATGTTCCCCAGTTCAGTGTTGCATGTATA ATAGATTTCTCCTCTTCCTGCCCCCCTTGGCATGGGTGAGACCTGACCAGTCAGATGGTAGTTGAGGGTGACTTTTCCTGCTGCCTGGCC TTTATAATTTTACTCACTCACTCTGATTTATGTTTTGATCAAATTTGAACTTCATTTTGGGGGGTATTTTGGTACTGTGATGGGGTCATC AAATTATTAATCTGAAAATAGCAACCCAGAATGTAAAAAAGAAAAAACTGGGGGGAAAAAGACCAGGTCTACAGTGATAGAGCAAAGCAT CAAAGAATCTTTAAGGGAGGTTTAAAAAAAAAAAAAAAAAAAAAGATTGGTTGCCTCTGCCTTTGTGATCCTGAGTCCAGAATGGTACAC AATGTGATTTTATGGTGATGTCACTCACCTAGACAACCAGAGGCTGGCATTGAGGCTAACCTCCAACACAGTGCATCTCAGATGCCTCAG TAGGCATCAGTATGTCACTCTGGTCCCTTTAAAGAGCAATCCTGGAAGAAGCAGGAGGGAGGGTGGCTTTGCTGTTGTTGGGACATGGCA ATCTAGACCGGTAGCAGCGCTCGCTGACAGCTTGGGAGGAAACCTGAGATCTGTGTTTTTTAAATTGATCGTTCTTCATGGGGGTAAGAA |
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FusionGenePPI for HECTD4_PEBP1 |
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 |
HECTD4 | GRIA3, LGALS3BP, UNC119, VAMP4, TRIM25 | PEBP1 | STC2, RAF1, MAP2K1, MAPK1, TRAF6, AKT1, PRDX1, IGBP1, PTGR1, HNF1A, ADRBK1, IQCB1, NKX3-1, BAG3, GSDMB, MOV10, NXF1, ABCE1, ASNS, C11orf54, GNPDA2, HSPE1, LGALS3, CFL1, LDHAL6A, PABPC3, SOD1, SOD2, SPR, UCHL3, YKT6, PGLS, PPIA, PRDX5, RFK, SLC25A32, STIP1, SCLT1, ALOX15, STYX |
- 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 HECTD4_PEBP1 |
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 HECTD4_PEBP1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | HECTD4 | C1956346 | Coronary Artery Disease | 1 | CTD_human |
Tgene | PEBP1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Tgene | PEBP1 | C0018801 | Heart failure | 1 | CTD_human |
Tgene | PEBP1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Tgene | PEBP1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Tgene | PEBP1 | C0032927 | Precancerous Conditions | 1 | CTD_human |
Tgene | PEBP1 | C0151744 | Myocardial Ischemia | 1 | CTD_human |