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Fusion gene ID: 11119 |
FusionGeneSummary for EGF_ENPEP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EGF_ENPEP | Fusion gene ID: 11119 | Hgene | Tgene | Gene symbol | EGF | ENPEP | Gene ID | 1950 | 2028 |
| Gene name | epidermal growth factor | glutamyl aminopeptidase | |
| Synonyms | HOMG4|URG | APA|CD249|gp160 | |
| Cytomap | 4q25 | 4q25 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pro-epidermal growth factorbeta-urogastrone | glutamyl aminopeptidaseAP-AEAPaminopeptidase Adifferentiation antigen gp160 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P01133 | Q07075 | |
| Ensembl transtripts involved in fusion gene | ENST00000509793, ENST00000265171, ENST00000503392, ENST00000502723, | ENST00000265162, ENST00000504100, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 1 X 1 X 1=1 |
| # samples | 2 | 1 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: EGF [Title/Abstract] AND ENPEP [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 | EGF | GO:0001525 | angiogenesis | 15611079 |
| Hgene | EGF | GO:0002092 | positive regulation of receptor internalization | 22732145 |
| Hgene | EGF | GO:0008284 | positive regulation of cell proliferation | 7736574|15611079|20388803 |
| Hgene | EGF | GO:0010628 | positive regulation of gene expression | 25678558 |
| Hgene | EGF | GO:0010800 | positive regulation of peptidyl-threonine phosphorylation | 16314496 |
| Hgene | EGF | GO:0030335 | positive regulation of cell migration | 25678558 |
| Hgene | EGF | GO:0042327 | positive regulation of phosphorylation | 15611079 |
| Hgene | EGF | GO:0043406 | positive regulation of MAP kinase activity | 15611079 |
| Hgene | EGF | GO:0045741 | positive regulation of epidermal growth factor-activated receptor activity | 15611079 |
| Hgene | EGF | GO:0045840 | positive regulation of mitotic nuclear division | 15611079 |
| Hgene | EGF | GO:0045893 | positive regulation of transcription, DNA-templated | 16314496 |
| Hgene | EGF | GO:0051048 | negative regulation of secretion | 10559227 |
| Hgene | EGF | GO:0070371 | ERK1 and ERK2 cascade | 16314496 |
| Hgene | EGF | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 20302655 |
| Hgene | EGF | GO:0090279 | regulation of calcium ion import | 19996314 |
| Hgene | EGF | GO:1900127 | positive regulation of hyaluronan biosynthetic process | 17324121 |
| Hgene | EGF | GO:2000008 | regulation of protein localization to cell surface | 19996314 |
| Tgene | ENPEP | GO:0003081 | regulation of systemic arterial blood pressure by renin-angiotensin | 19608358 |
| Tgene | ENPEP | GO:0008283 | cell proliferation | 14998491 |
| Tgene | ENPEP | GO:0016477 | cell migration | 14998491 |
| 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 | BRCA | TCGA-BH-A1F0-01A | EGF | chr4 | 110834618 | + | ENPEP | chr4 | 111409697 | + |
| * 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 | ENST00000509793 | ENST00000265162 | EGF | chr4 | 110834618 | + | ENPEP | chr4 | 111409697 | + |
| 5CDS-intron | ENST00000509793 | ENST00000504100 | EGF | chr4 | 110834618 | + | ENPEP | chr4 | 111409697 | + |
| Frame-shift | ENST00000265171 | ENST00000265162 | EGF | chr4 | 110834618 | + | ENPEP | chr4 | 111409697 | + |
| 5CDS-intron | ENST00000265171 | ENST00000504100 | EGF | chr4 | 110834618 | + | ENPEP | chr4 | 111409697 | + |
| Frame-shift | ENST00000503392 | ENST00000265162 | EGF | chr4 | 110834618 | + | ENPEP | chr4 | 111409697 | + |
| 5CDS-intron | ENST00000503392 | ENST00000504100 | EGF | chr4 | 110834618 | + | ENPEP | chr4 | 111409697 | + |
| intron-3CDS | ENST00000502723 | ENST00000265162 | EGF | chr4 | 110834618 | + | ENPEP | chr4 | 111409697 | + |
| intron-intron | ENST00000502723 | ENST00000504100 | EGF | chr4 | 110834618 | + | ENPEP | chr4 | 111409697 | + |
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FusionProtFeatures for EGF_ENPEP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EGF | ENPEP |
| EGF stimulates the growth of various epidermal andepithelial tissues in vivo and in vitro and of some fibroblasts incell culture. Magnesiotropic hormone that stimulates magnesiumreabsorption in the renal distal convoluted tubule via engagementof EGFR and activation of the magnesium channel TRPM6. Can induceneurite outgrowth in motoneurons of the pond snail Lymnaeastagnalis in vitro (PubMed:10964941).{ECO:0000269|PubMed:10964941, ECO:0000269|PubMed:17671655}. | Regulates central hypertension through its calcium-modulated preference to cleave N-terminal acidic residues frompeptides such as angiotensin II. {ECO:0000305|PubMed:23888046}. |
| 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 EGF_ENPEP |
| 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 EGF_ENPEP |
| 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 |
| EGF | FNBP1, RPS6KA5, MAPKAPK2, EGF, EGFR, ERBB2, ERBB3, VTN, ZFYVE28, LMNA, PCGF2, LMNB1, SREBF1, EMD, UBE2I, FGF5 | ENPEP | FRMD5, BNIP3 |
| - 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 EGF_ENPEP |
| 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 |
| Hgene | EGF | P01133 | DB00364 | Sucralfate | Pro-epidermal growth factor | small molecule | approved |
| Hgene | EGF | P01133 | DB08862 | Cholecystokinin | Pro-epidermal growth factor | small molecule | approved|investigational |
| Tgene | ENPEP | Q07075 | DB00142 | Glutamic Acid | Glutamyl aminopeptidase | small molecule | approved|nutraceutical |
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RelatedDiseases for EGF_ENPEP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EGF | C0027626 | Neoplasm Invasiveness | 4 | CTD_human |
| Hgene | EGF | C0007621 | Neoplastic Cell Transformation | 3 | CTD_human |
| Hgene | EGF | C1458155 | Mammary Neoplasms | 3 | CTD_human |
| Hgene | EGF | C0001973 | Alcoholic Intoxication, Chronic | 2 | PSYGENET |
| Hgene | EGF | C0027627 | Neoplasm Metastasis | 2 | CTD_human |
| Hgene | EGF | C0038358 | Gastric ulcer | 2 | CTD_human |
| Hgene | EGF | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Hgene | EGF | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | EGF | C0008925 | Cleft Palate | 1 | CTD_human |
| Hgene | EGF | C0017636 | Glioblastoma | 1 | CTD_human |
| Hgene | EGF | C0022658 | Kidney Diseases | 1 | CTD_human |
| Hgene | EGF | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | EGF | C0025568 | Metaplasia | 1 | CTD_human |
| Hgene | EGF | C0032927 | Precancerous Conditions | 1 | CTD_human |
| Hgene | EGF | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | EGF | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
| Hgene | EGF | C0035126 | Reperfusion Injury | 1 | CTD_human |
| Hgene | EGF | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | EGF | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Hgene | EGF | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Hgene | EGF | C2239176 | Liver carcinoma | 1 | CTD_human |
| Hgene | EGF | C2673648 | Hypomagnesemia 4, Renal | 1 | CTD_human;UNIPROT |
| Hgene | EGF | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Tgene | ENPEP | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | ENPEP | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | ENPEP | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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