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Fusion gene ID: 30936 |
FusionGeneSummary for RELL1_XIAP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RELL1_XIAP | Fusion gene ID: 30936 | Hgene | Tgene | Gene symbol | RELL1 | XIAP | Gene ID | 768211 | 331 |
| Gene name | RELT like 1 | X-linked inhibitor of apoptosis | |
| Synonyms | - | API3|BIRC4|IAP-3|ILP1|MIHA|XLP2|hIAP-3|hIAP3 | |
| Cytomap | 4p14 | Xq25 | |
| Type of gene | protein-coding | protein-coding | |
| Description | RELT-like protein 1receptor expressed in lymphoid tissues like 1tmp_locus_29 | E3 ubiquitin-protein ligase XIAPIAP-like proteinRING-type E3 ubiquitin transferase XIAPX-linked IAPX-linked inhibitor of apoptosis, E3 ubiquitin protein ligasebaculoviral IAP repeat-containing protein 4inhibitor of apoptosis protein 3 | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | Q8IUW5 | P98170 | |
| Ensembl transtripts involved in fusion gene | ENST00000314117, ENST00000454158, | ENST00000434753, ENST00000468691, ENST00000371199, ENST00000355640, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 4 X 4 X 2=32 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RELL1 [Title/Abstract] AND XIAP [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 | XIAP | GO:0031398 | positive regulation of protein ubiquitination | 21931591 |
| Tgene | XIAP | GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 11583623 |
| Tgene | XIAP | GO:1902530 | positive regulation of protein linear polyubiquitination | 21931591 |
| 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 | BM690816 | RELL1 | chr4 | 37612256 | - | XIAP | chrX | 123046191 | + |
| * 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 | ENST00000314117 | ENST00000434753 | RELL1 | chr4 | 37612256 | - | XIAP | chrX | 123046191 | + |
| intron-intron | ENST00000314117 | ENST00000468691 | RELL1 | chr4 | 37612256 | - | XIAP | chrX | 123046191 | + |
| intron-3UTR | ENST00000314117 | ENST00000371199 | RELL1 | chr4 | 37612256 | - | XIAP | chrX | 123046191 | + |
| intron-3UTR | ENST00000314117 | ENST00000355640 | RELL1 | chr4 | 37612256 | - | XIAP | chrX | 123046191 | + |
| intron-intron | ENST00000454158 | ENST00000434753 | RELL1 | chr4 | 37612256 | - | XIAP | chrX | 123046191 | + |
| intron-intron | ENST00000454158 | ENST00000468691 | RELL1 | chr4 | 37612256 | - | XIAP | chrX | 123046191 | + |
| intron-3UTR | ENST00000454158 | ENST00000371199 | RELL1 | chr4 | 37612256 | - | XIAP | chrX | 123046191 | + |
| intron-3UTR | ENST00000454158 | ENST00000355640 | RELL1 | chr4 | 37612256 | - | XIAP | chrX | 123046191 | + |
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FusionProtFeatures for RELL1_XIAP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RELL1 | XIAP |
| Multi-functional protein which regulates not onlycaspases and apoptosis, but also modulates inflammatory signalingand immunity, copper homeostasis, mitogenic kinase signaling, cellproliferation, as well as cell invasion and metastasis. Acts as adirect caspase inhibitor. Directly bind to the active site pocketof CASP3 and CASP7 and obstructs substrate entry. InactivatesCASP9 by keeping it in a monomeric, inactive state. Acts as an E3ubiquitin-protein ligase regulating NF-kappa-B signaling and thetarget proteins for its E3 ubiquitin-protein ligase activityinclude: RIPK1, CASP3, CASP7, CASP8, CASP9, MAP3K2/MEKK2,DIABLO/SMAC, AIFM1, CCS and BIRC5/survivin. Ubiquitinion of CCSleads to enhancement of its chaperone activity toward itsphysiologic target, SOD1, rather than proteasomal degradation.Ubiquitinion of MAP3K2/MEKK2 and AIFM1 does not lead toproteasomal degradation. Plays a role in copper homeostasis byubiquitinationg COMMD1 and promoting its proteasomal degradation.Can also function as E3 ubiquitin-protein ligase of the NEDD8conjugation pathway, targeting effector caspases for neddylationand inactivation. Regulates the BMP signaling pathway and the SMADand MAP3K7/TAK1 dependent pathways leading to NF-kappa-B and JNKactivation. Acts as an important regulator of innate immunesignaling via regulation of Nodlike receptors (NLRs). Protectscells from spontaneous formation of the ripoptosome, a largemulti-protein complex that has the capability to kill cancer cellsin a caspase-dependent and caspase-independent manner. Suppressesripoptosome formation by ubiquitinating RIPK1 and CASP8. Acts as apositive regulator of Wnt signaling and ubiquitinates TLE1, TLE2,TLE3, TLE4 and AES. Ubiquitination of TLE3 results in inhibitionof its interaction with TCF7L2/TCF4 thereby allowing efficientrecruitment and binding of the transcriptional coactivator beta-catenin to TCF7L2/TCF4 that is required to initiate a Wnt-specifictranscriptional program. {ECO:0000269|PubMed:11447297,ECO:0000269|PubMed:12121969, ECO:0000269|PubMed:14645242,ECO:0000269|PubMed:14685266, ECO:0000269|PubMed:17560374,ECO:0000269|PubMed:17967870, ECO:0000269|PubMed:19473982,ECO:0000269|PubMed:20154138, ECO:0000269|PubMed:21145488,ECO:0000269|PubMed:22103349, ECO:0000269|PubMed:22304967,ECO:0000269|PubMed:9230442}. |
| 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 RELL1_XIAP |
| 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 RELL1_XIAP |
| 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 RELL1_XIAP |
| 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 |
| Tgene | XIAP | P98170 | DB04209 | Dequalinium | E3 ubiquitin-protein ligase XIAP | small molecule | approved|investigational |
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RelatedDiseases for RELL1_XIAP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RELL1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | XIAP | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Tgene | XIAP | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Tgene | XIAP | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
| Tgene | XIAP | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Tgene | XIAP | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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