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Fusion gene ID: 33302 |
FusionGeneSummary for SERPINB1_ERRFI1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SERPINB1_ERRFI1 | Fusion gene ID: 33302 | Hgene | Tgene | Gene symbol | SERPINB1 | ERRFI1 | Gene ID | 1992 | 54206 |
| Gene name | serpin family B member 1 | ERBB receptor feedback inhibitor 1 | |
| Synonyms | EI|ELANH2|HEL-S-27|HEL57|LEI|M/NEI|MNEI|PI-2|PI2 | GENE-33|MIG-6|MIG6|RALT | |
| Cytomap | 6p25.2 | 1p36.23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | leukocyte elastase inhibitorepididymis luminal protein 57epididymis secretory protein Li 27peptidase inhibitor 2protease inhibitor 2 (anti-elastase), monocyte/neutrophil derivedserine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1 | ERBB receptor feedback inhibitor 1mitogen-inducible gene 6 proteinreceptor-associated late transducer | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P30740 | Q9UJM3 | |
| Ensembl transtripts involved in fusion gene | ENST00000380739, ENST00000537185, ENST00000476896, | ENST00000474874, ENST00000377482, ENST00000467067, ENST00000469499, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 4 X 4 X 2=32 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SERPINB1 [Title/Abstract] AND ERRFI1 [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 | ERRFI1 | GO:0007175 | negative regulation of epidermal growth factor-activated receptor activity | 18046415 |
| Tgene | ERRFI1 | GO:0031953 | negative regulation of protein autophosphorylation | 18046415 |
| 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 | BU620492 | SERPINB1 | chr6 | 2833927 | + | ERRFI1 | chr1 | 8072043 | + |
| * 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 | ENST00000380739 | ENST00000474874 | SERPINB1 | chr6 | 2833927 | + | ERRFI1 | chr1 | 8072043 | + |
| intron-3UTR | ENST00000380739 | ENST00000377482 | SERPINB1 | chr6 | 2833927 | + | ERRFI1 | chr1 | 8072043 | + |
| intron-intron | ENST00000380739 | ENST00000467067 | SERPINB1 | chr6 | 2833927 | + | ERRFI1 | chr1 | 8072043 | + |
| intron-intron | ENST00000380739 | ENST00000469499 | SERPINB1 | chr6 | 2833927 | + | ERRFI1 | chr1 | 8072043 | + |
| intron-intron | ENST00000537185 | ENST00000474874 | SERPINB1 | chr6 | 2833927 | + | ERRFI1 | chr1 | 8072043 | + |
| intron-3UTR | ENST00000537185 | ENST00000377482 | SERPINB1 | chr6 | 2833927 | + | ERRFI1 | chr1 | 8072043 | + |
| intron-intron | ENST00000537185 | ENST00000467067 | SERPINB1 | chr6 | 2833927 | + | ERRFI1 | chr1 | 8072043 | + |
| intron-intron | ENST00000537185 | ENST00000469499 | SERPINB1 | chr6 | 2833927 | + | ERRFI1 | chr1 | 8072043 | + |
| intron-intron | ENST00000476896 | ENST00000474874 | SERPINB1 | chr6 | 2833927 | + | ERRFI1 | chr1 | 8072043 | + |
| intron-3UTR | ENST00000476896 | ENST00000377482 | SERPINB1 | chr6 | 2833927 | + | ERRFI1 | chr1 | 8072043 | + |
| intron-intron | ENST00000476896 | ENST00000467067 | SERPINB1 | chr6 | 2833927 | + | ERRFI1 | chr1 | 8072043 | + |
| intron-intron | ENST00000476896 | ENST00000469499 | SERPINB1 | chr6 | 2833927 | + | ERRFI1 | chr1 | 8072043 | + |
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FusionProtFeatures for SERPINB1_ERRFI1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SERPINB1 | ERRFI1 |
| Regulates the activity of the neutrophil proteaseselastase, cathepsin G, proteinase-3, chymase, chymotrypsin, andkallikrein-3. Also functions as a potent intracellular inhibitorof granzyme H. {ECO:0000269|PubMed:11747453}. | Negative regulator of EGFR signaling in skinmorphogenesis. Acts as a negative regulator for several EGFRfamily members, including ERBB2, ERBB3 and ERBB4. Inhibits EGFRcatalytic activity by interfering with its dimerization. Inhibitsautophosphorylation of EGFR, ERBB2 and ERBB4. Important for normalkeratinocyte proliferation and differentiation. Plays a role inmodulating the response to steroid hormones in the uterus.Required for normal response to progesterone in the uterus and forfertility. Mediates epithelial estrogen responses in the uterus byregulating ESR1 levels and activation. Important for regulation ofendometrium cell proliferation. Important for normal prenatal andperinatal lung development (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 SERPINB1_ERRFI1 |
| 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 SERPINB1_ERRFI1 |
| 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 SERPINB1_ERRFI1 |
| 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 SERPINB1_ERRFI1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ERRFI1 | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | ERRFI1 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
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