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Fusion gene ID: 11593 |
FusionGeneSummary for ENC1_LRBA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ENC1_LRBA | Fusion gene ID: 11593 | Hgene | Tgene | Gene symbol | ENC1 | LRBA | Gene ID | 8507 | 987 |
| Gene name | ectodermal-neural cortex 1 | LPS responsive beige-like anchor protein | |
| Synonyms | CCL28|ENC-1|KLHL35|KLHL37|NRPB|PIG10|TP53I10 | BGL|CDC4L|CVID8|LAB300|LBA | |
| Cytomap | 5q13.3 | 4q31.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ectoderm-neural cortex protein 1ectodermal-neural cortex 1 (with BTB domain)ectodermal-neural cortex 1 (with BTB-like domain)kelch-like 35kelch-like family member 37kelch-like protein 37nuclear matrix protein NRP/Bnuclear restricted protein, BTB do | lipopolysaccharide-responsive and beige-like anchor proteinCDC4-like proteinLPS-responsive vesicle trafficking, beach and anchor containingvesicle trafficking, beach and anchor containing | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | O14682 | P50851 | |
| Ensembl transtripts involved in fusion gene | ENST00000302351, ENST00000510316, ENST00000509284, ENST00000537006, | ENST00000535741, ENST00000510413, ENST00000503716, ENST00000357115, ENST00000507224, | |
| Fusion gene scores | * DoF score | 3 X 2 X 1=6 | 15 X 15 X 7=1575 |
| # samples | 4 | 18 | |
| ** MAII score | log2(4/6*10)=2.73696559416621 | log2(18/1575*10)=-3.12928301694497 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ENC1 [Title/Abstract] AND LRBA [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 |
| Hgene | ENC1 | GO:0010499 | proteasomal ubiquitin-independent protein catabolic process | 19424503 |
| Hgene | ENC1 | GO:0016567 | protein ubiquitination | 15983046 |
| Hgene | ENC1 | GO:0017148 | negative regulation of translation | 19424503 |
| 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 | BC008644 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - | ||
| ChiTaRS3.1 | BE873019 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| * 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 |
| 5UTR-3CDS | ENST00000302351 | ENST00000535741 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| 5UTR-3CDS | ENST00000302351 | ENST00000510413 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| 5UTR-5UTR | ENST00000302351 | ENST00000503716 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| 5UTR-5UTR | ENST00000302351 | ENST00000357115 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| 5UTR-intron | ENST00000302351 | ENST00000507224 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| 5UTR-3CDS | ENST00000510316 | ENST00000535741 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| 5UTR-3CDS | ENST00000510316 | ENST00000510413 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| 5UTR-5UTR | ENST00000510316 | ENST00000503716 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| 5UTR-5UTR | ENST00000510316 | ENST00000357115 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| 5UTR-intron | ENST00000510316 | ENST00000507224 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| intron-3CDS | ENST00000509284 | ENST00000535741 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| intron-3CDS | ENST00000509284 | ENST00000510413 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| intron-5UTR | ENST00000509284 | ENST00000503716 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| intron-5UTR | ENST00000509284 | ENST00000357115 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| intron-intron | ENST00000509284 | ENST00000507224 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| 5UTR-3CDS | ENST00000537006 | ENST00000535741 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| 5UTR-3CDS | ENST00000537006 | ENST00000510413 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| 5UTR-5UTR | ENST00000537006 | ENST00000503716 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| 5UTR-5UTR | ENST00000537006 | ENST00000357115 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
| 5UTR-intron | ENST00000537006 | ENST00000507224 | ENC1 | chr5 | 73936130 | - | LRBA | chr4 | 151186964 | - |
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FusionProtFeatures for ENC1_LRBA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ENC1 | LRBA |
| Actin-binding protein involved in the regulation ofneuronal process formation and in differentiation of neural crestcells. Down-regulates transcription factor NF2L2/NRF2 bydecreasing the rate of protein synthesis and not via a ubiquitin-mediated proteasomal degradation mechanism.{ECO:0000269|PubMed:19424503}. | May be involved in coupling signal transduction andvesicle trafficking to enable polarized secretion and/or membranedeposition of immune effector molecules. {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 ENC1_LRBA |
| 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 ENC1_LRBA |
| 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 |
| ENC1 | RB1, CUL3, RBX1, KEAP1, NACC1, NFE2L2, SNCA, HSP90AA1, ACTB, ENC1, SQSTM1, KLHL25, NUDCD3, PLIN5 | LRBA | TUSC2, NOTCH1, FN1, BAG3, CAST, KIF15, DCAF11, INPPL1, MLF2, VCP, MOV10, RIC3, CT55, PARP16, RD3, TMEM52B, MED4, TMEM17, TMEM216, NCR3LG1, PVR, FAM196A, EPHA1, GYPB, DLK2, TRIM25 |
| - 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 ENC1_LRBA |
| 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 ENC1_LRBA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ENC1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | LRBA | C3553512 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY | 1 | ORPHANET;UNIPROT |
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