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Fusion gene ID: 16298 |
FusionGeneSummary for HIVEP3_RPH3AL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HIVEP3_RPH3AL | Fusion gene ID: 16298 | Hgene | Tgene | Gene symbol | HIVEP3 | RPH3AL | Gene ID | 59269 | 9501 |
| Gene name | human immunodeficiency virus type I enhancer binding protein 3 | rabphilin 3A like (without C2 domains) | |
| Synonyms | KBP-1|KBP1|KRC|SHN3|Schnurri-3|ZAS3|ZNF40C | NOC2 | |
| Cytomap | 1p34.2 | 17p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor HIVEP3ZAS family, member 3kappa-B and V(D)J recombination signal sequences-binding proteinkappa-binding protein 1zinc finger protein ZAS3 | rab effector Noc2no C2 domains protein | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q5T1R4 | Q9UNE2 | |
| Ensembl transtripts involved in fusion gene | ENST00000372583, ENST00000372584, ENST00000247584, ENST00000429157, ENST00000460604, | ENST00000331302, ENST00000323434, ENST00000536489, ENST00000576001, | |
| Fusion gene scores | * DoF score | 11 X 11 X 5=605 | 3 X 3 X 3=27 |
| # samples | 12 | 3 | |
| ** MAII score | log2(12/605*10)=-2.33390073655344 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: HIVEP3 [Title/Abstract] AND RPH3AL [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 |
| Hgene | HIVEP3 | GO:0045893 | positive regulation of transcription, DNA-templated | 15790681 |
| 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 | HNSC | TCGA-BB-A5HU-01A | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| * 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 | ENST00000372583 | ENST00000331302 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000372583 | ENST00000323434 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000372583 | ENST00000536489 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| 5CDS-intron | ENST00000372583 | ENST00000576001 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000372584 | ENST00000331302 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000372584 | ENST00000323434 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000372584 | ENST00000536489 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| 5CDS-intron | ENST00000372584 | ENST00000576001 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000247584 | ENST00000331302 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000247584 | ENST00000323434 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000247584 | ENST00000536489 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| 5CDS-intron | ENST00000247584 | ENST00000576001 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000429157 | ENST00000331302 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000429157 | ENST00000323434 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000429157 | ENST00000536489 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| 5CDS-intron | ENST00000429157 | ENST00000576001 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| 5UTR-3CDS | ENST00000460604 | ENST00000331302 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| 5UTR-3CDS | ENST00000460604 | ENST00000323434 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| 5UTR-3CDS | ENST00000460604 | ENST00000536489 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| 5UTR-intron | ENST00000460604 | ENST00000576001 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
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FusionProtFeatures for HIVEP3_RPH3AL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HIVEP3 | RPH3AL |
| Plays a role of transcription factor; binds torecognition signal sequences (Rss heptamer) for somaticrecombination of immunoglobulin and T-cell receptor gene segments;Binds also to the kappa-B motif of gene such as S100A4, involvedin cell progression and differentiation. Kappa-B motif is a generegulatory element found in promoters and enhancers of genesinvolved in immunity, inflammation, and growth and that respondsto viral antigens, mitogens, and cytokines. Involvement of HIVEP3in cell growth is strengthened by the fact that its down-regulation promotes cell cycle progression with ultimate formationof multinucleated giant cells. Strongly inhibits TNF-alpha-inducedNF-kappa-B activation; Interferes with nuclear factor NF-kappa-Bby several mechanisms: as transcription factor, by competing forKappa-B motif and by repressing transcription in the nucleus;through a non transcriptional process, by inhibiting nucleartranslocation of RELA by association with TRAF2, an adaptermolecule in the tumor necrosis factor signaling, which blocks theformation of IKK complex. Interaction with TRAF proteins inhibitsboth NF-Kappa-B-mediated and c-Jun N-terminal kinase/JNK-mediatedresponses that include apoptosis and proinflammatory cytokine geneexpression. Positively regulates the expression of IL2 in T-cell.Essential regulator of adult bone formation.{ECO:0000269|PubMed:11161801}. | Rab GTPase effector involved in the late steps ofregulated exocytosis, both in endocrine and exocrine cells (Bysimilarity). Acts as a potential RAB3B effector protein inepithelial cells. {ECO:0000250, ECO:0000269|PubMed:15003533}. |
| 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 HIVEP3_RPH3AL |
| 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 HIVEP3_RPH3AL |
| 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 |
| HIVEP3 | TRAF1, TRAF2, UBC, RUNX2, WWP1, FHL1, FUS, NUP35, TRIM25 | RPH3AL | RAB3GAP1, RAB27A, UNC13B, TCEA3, MID2 |
| - 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 HIVEP3_RPH3AL |
| 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 HIVEP3_RPH3AL |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | RPH3AL | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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