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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for EGFR |
 Gene summary |
| Gene information | Gene symbol | EGFR | Gene ID | 1956 |
| Gene name | epidermal growth factor receptor | |
| Synonyms | ERBB|ERBB1|HER1|NISBD2|PIG61|mENA | |
| Cytomap | 7p11.2 | |
| Type of gene | protein-coding | |
| Description | epidermal growth factor receptoravian erythroblastic leukemia viral (v-erb-b) oncogene homologcell growth inhibiting protein 40cell proliferation-inducing protein 61epidermal growth factor receptor tyrosine kinase domainerb-b2 receptor tyrosine kinas | |
| Modification date | 20180527 | |
| UniProtAcc | P00533 | |
| Context | PubMed: EGFR [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) - Structure and evolution of double minutes in diagnosis and relapse brain tumors.(30267146) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| EGFR | GO:0001934 | positive regulation of protein phosphorylation | 20551055 |
| EGFR | GO:0007165 | signal transduction | 10572067 |
| EGFR | GO:0007166 | cell surface receptor signaling pathway | 7736574 |
| EGFR | GO:0007173 | epidermal growth factor receptor signaling pathway | 7736574|12435727 |
| EGFR | GO:0008283 | cell proliferation | 17115032 |
| EGFR | GO:0008284 | positive regulation of cell proliferation | 7736574 |
| EGFR | GO:0010750 | positive regulation of nitric oxide mediated signal transduction | 12828935 |
| EGFR | GO:0018108 | peptidyl-tyrosine phosphorylation | 22732145 |
| EGFR | GO:0030307 | positive regulation of cell growth | 15467833 |
| EGFR | GO:0031659 | positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle | 18483258 |
| EGFR | GO:0042177 | negative regulation of protein catabolic process | 17115032 |
| EGFR | GO:0042327 | positive regulation of phosphorylation | 15082764 |
| EGFR | GO:0043406 | positive regulation of MAP kinase activity | 10572067 |
| EGFR | GO:0045739 | positive regulation of DNA repair | 17115032 |
| EGFR | GO:0045740 | positive regulation of DNA replication | 17115032 |
| EGFR | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20551055 |
| EGFR | GO:0050679 | positive regulation of epithelial cell proliferation | 10572067 |
| EGFR | GO:0050999 | regulation of nitric-oxide synthase activity | 12828935 |
| EGFR | GO:0070141 | response to UV-A | 18483258 |
| EGFR | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 20551055 |
| EGFR | GO:0071392 | cellular response to estradiol stimulus | 20551055 |
| EGFR | GO:1900020 | positive regulation of protein kinase C activity | 22732145 |
| EGFR | GO:1903078 | positive regulation of protein localization to plasma membrane | 22732145 |
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Exon skipping events across known transcript of Ensembl for EGFR from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for EGFR |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for EGFR |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_466201 | 7 | 55211006:55211181:55214298:55214433:55218986:55219055 | 55214298:55214433 | ENSG00000146648.11 | ENST00000454757.2,ENST00000275493.2,ENST00000442591.1,ENST00000344576.2,ENST00000420316.2,ENST00000342916.3 |
| exon_skip_466202 | 7 | 55218986:55219055:55220238:55220357:55221703:55221845 | 55220238:55220357 | ENSG00000146648.11 | ENST00000454757.2,ENST00000275493.2,ENST00000455089.1,ENST00000442591.1,ENST00000344576.2,ENST00000420316.2,ENST00000342916.3 |
| exon_skip_466204 | 7 | 55225355:55225446:55227831:55228031:55229191:55229324 | 55227831:55228031 | ENSG00000146648.11 | ENST00000454757.2,ENST00000275493.2,ENST00000455089.1,ENST00000442591.1,ENST00000344576.2,ENST00000342916.3 |
| exon_skip_466212 | 7 | 55229191:55229324:55231425:55231516:55232972:55233130 | 55231425:55231516 | ENSG00000146648.11 | ENST00000454757.2,ENST00000275493.2,ENST00000455089.1,ENST00000442591.1,ENST00000344576.2,ENST00000342916.3 |
| exon_skip_466213 | 7 | 55232972:55233130:55238867:55238906:55240675:55240817 | 55238867:55238906 | ENSG00000146648.11 | ENST00000454757.2,ENST00000275493.2,ENST00000455089.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EGFR |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_466201 | 7 | 55211006:55211181:55214298:55214433:55218986:55219055 | 55214298:55214433 | ENSG00000146648.11 | ENST00000342916.3,ENST00000344576.2,ENST00000420316.2,ENST00000275493.2,ENST00000442591.1,ENST00000454757.2 |
| exon_skip_466202 | 7 | 55218986:55219055:55220238:55220357:55221703:55221845 | 55220238:55220357 | ENSG00000146648.11 | ENST00000455089.1,ENST00000342916.3,ENST00000344576.2,ENST00000420316.2,ENST00000275493.2,ENST00000442591.1,ENST00000454757.2 |
| exon_skip_466204 | 7 | 55225355:55225446:55227831:55228031:55229191:55229324 | 55227831:55228031 | ENSG00000146648.11 | ENST00000455089.1,ENST00000342916.3,ENST00000344576.2,ENST00000275493.2,ENST00000442591.1,ENST00000454757.2 |
| exon_skip_466212 | 7 | 55229191:55229324:55231425:55231516:55232972:55233130 | 55231425:55231516 | ENSG00000146648.11 | ENST00000455089.1,ENST00000342916.3,ENST00000344576.2,ENST00000275493.2,ENST00000442591.1,ENST00000454757.2 |
| exon_skip_466213 | 7 | 55232972:55233130:55238867:55238906:55240675:55240817 | 55238867:55238906 | ENSG00000146648.11 | ENST00000455089.1,ENST00000275493.2,ENST00000454757.2 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for EGFR |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000275493 | 55220238 | 55220357 | Frame-shift |
| ENST00000275493 | 55227831 | 55228031 | Frame-shift |
| ENST00000275493 | 55231425 | 55231516 | Frame-shift |
| ENST00000275493 | 55214298 | 55214433 | In-frame |
| ENST00000275493 | 55238867 | 55238906 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000275493 | 55220238 | 55220357 | Frame-shift |
| ENST00000275493 | 55227831 | 55228031 | Frame-shift |
| ENST00000275493 | 55231425 | 55231516 | Frame-shift |
| ENST00000275493 | 55214298 | 55214433 | In-frame |
| ENST00000275493 | 55238867 | 55238906 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EGFR |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000275493 | 9838 | 1210 | 55214298 | 55214433 | 602 | 736 | 141 | 186 |
| ENST00000275493 | 9838 | 1210 | 55238867 | 55238906 | 2058 | 2096 | 627 | 639 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000275493 | 9838 | 1210 | 55214298 | 55214433 | 602 | 736 | 141 | 186 |
| ENST00000275493 | 9838 | 1210 | 55238867 | 55238906 | 2058 | 2096 | 627 | 639 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for EGFR |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_466202 | 55220239 | 55220357 | 55220290 | 55220290 | Frame_Shift_Del | C | - | p.S227fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_466202 | 55220239 | 55220357 | 55220290 | 55220290 | Frame_Shift_Del | C | - | p.S227fs |
| LUAD | TCGA-69-7765-01 | exon_skip_466204 | 55227832 | 55228031 | 55227989 | 55227989 | Nonsense_Mutation | C | T | p.Q486* |
| LUSC | TCGA-60-2698-01 | exon_skip_466202 | 55220239 | 55220357 | 55220237 | 55220237 | Splice_Site | A | G | p.L210_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| CW2_LARGE_INTESTINE | 55238868 | 55238906 | 55238903 | 55238904 | Frame_Shift_Ins | - | T | p.G640fs |
| HS445_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55214299 | 55214433 | 55214367 | 55214367 | Missense_Mutation | C | T | p.R165W |
| SNUC2A_LARGE_INTESTINE | 55214299 | 55214433 | 55214368 | 55214368 | Missense_Mutation | G | A | p.R165Q |
| SNUC2B_LARGE_INTESTINE | 55214299 | 55214433 | 55214368 | 55214368 | Missense_Mutation | G | A | p.R165Q |
| EN_ENDOMETRIUM | 55220239 | 55220357 | 55220310 | 55220310 | Missense_Mutation | A | G | p.N234D |
| SNU886_LIVER | 55220239 | 55220357 | 55220326 | 55220326 | Missense_Mutation | G | C | p.G239A |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55227832 | 55228031 | 55227884 | 55227884 | Missense_Mutation | C | T | p.R451C |
| LS411N_LARGE_INTESTINE | 55227832 | 55228031 | 55227989 | 55227989 | Missense_Mutation | C | G | p.Q486E |
| KM12_LARGE_INTESTINE | 55231426 | 55231516 | 55231511 | 55231511 | Nonsense_Mutation | G | T | p.G573* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EGFR |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_466201 | 7 | 55211006:55211181:55214298:55214433:55218986:55219055 | 55214298:55214433 | ENST00000454757.2,ENST00000275493.2,ENST00000442591.1,ENST00000344576.2,ENST00000420316.2,ENST00000342916.3 | LUAD | rs2072454 | chr7:55214348 | C/T | 1.50e-03 |
| exon_skip_466201 | 7 | 55211006:55211181:55214298:55214433:55218986:55219055 | 55214298:55214433 | ENST00000454757.2,ENST00000275493.2,ENST00000442591.1,ENST00000344576.2,ENST00000420316.2,ENST00000342916.3 | LUAD | rs2072454 | chr7:55214348 | C/T | 2.19e-03 |
| exon_skip_466201 | 7 | 55211006:55211181:55214298:55214433:55218986:55219055 | 55214298:55214433 | ENST00000454757.2,ENST00000275493.2,ENST00000442591.1,ENST00000344576.2,ENST00000420316.2,ENST00000342916.3 | STAD | rs2072454 | chr7:55214348 | C/T | 2.28e-06 |
| exon_skip_466213 | 7 | 55232972:55233130:55238867:55238906:55240675:55240817 | 55238867:55238906 | ENST00000454757.2,ENST00000275493.2,ENST00000455089.1 | HNSC | rs2227984 | chr7:55238874 | T/A | 7.30e-05 |
| exon_skip_466213 | 7 | 55232972:55233130:55238867:55238906:55240675:55240817 | 55238867:55238906 | ENST00000454757.2,ENST00000275493.2,ENST00000455089.1 | BRCA | rs2227984 | chr7:55238874 | T/A | 7.03e-07 |
| exon_skip_466213 | 7 | 55232972:55233130:55238867:55238906:55240675:55240817 | 55238867:55238906 | ENST00000454757.2,ENST00000275493.2,ENST00000455089.1 | KIRP | rs2227984 | chr7:55238874 | T/A | 1.12e-04 |
| exon_skip_466213 | 7 | 55232972:55233130:55238867:55238906:55240675:55240817 | 55238867:55238906 | ENST00000454757.2,ENST00000275493.2,ENST00000455089.1 | LGG | rs2227984 | chr7:55238874 | T/A | 6.18e-24 |
| exon_skip_466213 | 7 | 55232972:55233130:55238867:55238906:55240675:55240817 | 55238867:55238906 | ENST00000454757.2,ENST00000275493.2,ENST00000455089.1 | LGG | rs2227984 | chr7:55238874 | T/A | 6.08e-12 |
| exon_skip_466213 | 7 | 55232972:55233130:55238867:55238906:55240675:55240817 | 55238867:55238906 | ENST00000454757.2,ENST00000275493.2,ENST00000455089.1 | LGG | rs2227984 | chr7:55238874 | T/A | 7.99e-09 |
| exon_skip_466213 | 7 | 55232972:55233130:55238867:55238906:55240675:55240817 | 55238867:55238906 | ENST00000454757.2,ENST00000275493.2,ENST00000455089.1 | KIRC | rs2227984 | chr7:55238874 | T/A | 7.91e-06 |
| exon_skip_466213 | 7 | 55232972:55233130:55238867:55238906:55240675:55240817 | 55238867:55238906 | ENST00000454757.2,ENST00000275493.2,ENST00000455089.1 | LUAD | rs2227984 | chr7:55238874 | T/A | 5.58e-05 |
| exon_skip_466213 | 7 | 55232972:55233130:55238867:55238906:55240675:55240817 | 55238867:55238906 | ENST00000454757.2,ENST00000275493.2,ENST00000455089.1 | LIHC | rs2227984 | chr7:55238874 | T/A | 5.58e-08 |
| exon_skip_466213 | 7 | 55232972:55233130:55238867:55238906:55240675:55240817 | 55238867:55238906 | ENST00000454757.2,ENST00000275493.2,ENST00000455089.1 | LUSC | rs2227984 | chr7:55238874 | T/A | 1.66e-03 |
| exon_skip_466213 | 7 | 55232972:55233130:55238867:55238906:55240675:55240817 | 55238867:55238906 | ENST00000454757.2,ENST00000275493.2,ENST00000455089.1 | SARC | rs2227984 | chr7:55238874 | T/A | 1.86e-05 |
| exon_skip_466213 | 7 | 55232972:55233130:55238867:55238906:55240675:55240817 | 55238867:55238906 | ENST00000454757.2,ENST00000275493.2,ENST00000455089.1 | THCA | rs2227984 | chr7:55238874 | T/A | 4.82e-07 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EGFR |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EGFR |
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RelatedDrugs for EGFR |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P00533 | DB00002 | Cetuximab | Epidermal growth factor receptor | biotech | approved | |
| P00533 | DB05294 | Vandetanib | Epidermal growth factor receptor | small molecule | approved | |
| P00533 | DB08916 | Afatinib | Epidermal growth factor receptor | small molecule | approved | |
| P00533 | DB09330 | Osimertinib | Epidermal growth factor receptor | small molecule | approved | |
| P00533 | DB00072 | Trastuzumab | Epidermal growth factor receptor | biotech | approved|investigational | |
| P00533 | DB00317 | Gefitinib | Epidermal growth factor receptor | small molecule | approved|investigational | |
| P00533 | DB00530 | Erlotinib | Epidermal growth factor receptor | small molecule | approved|investigational | |
| P00533 | DB01259 | Lapatinib | Epidermal growth factor receptor | small molecule | approved|investigational | |
| P00533 | DB01269 | Panitumumab | Epidermal growth factor receptor | biotech | approved|investigational | |
| P00533 | DB09559 | Necitumumab | Epidermal growth factor receptor | biotech | approved|investigational | |
| P00533 | DB11828 | Neratinib | Epidermal growth factor receptor | small molecule | approved|investigational | |
| P00533 | DB11963 | Dacomitinib | Epidermal growth factor receptor | small molecule | approved|investigational | |
| P00533 | DB12010 | Fostamatinib | Epidermal growth factor receptor | small molecule | approved|investigational | |
| P00533 | DB12267 | Brigatinib | Epidermal growth factor receptor | small molecule | approved|investigational | |
| P00533 | DB00281 | Lidocaine | Epidermal growth factor receptor | small molecule | approved|vet_approved |
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RelatedDiseases for EGFR |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EGFR | C0007131 | Non-Small Cell Lung Carcinoma | 16 | CTD_human |
| EGFR | C1458155 | Mammary Neoplasms | 6 | CTD_human |
| EGFR | C0024121 | Lung Neoplasms | 5 | CTD_human |
| EGFR | C0001418 | Adenocarcinoma | 4 | CTD_human |
| EGFR | C0007137 | Squamous cell carcinoma | 3 | CTD_human |
| EGFR | C0007873 | Uterine Cervical Neoplasm | 3 | CTD_human |
| EGFR | C0014859 | Esophageal Neoplasms | 3 | CTD_human |
| EGFR | C0017636 | Glioblastoma | 3 | CTD_human |
| EGFR | C0018671 | Head and Neck Neoplasms | 3 | CTD_human |
| EGFR | C0027627 | Neoplasm Metastasis | 3 | CTD_human |
| EGFR | C0033578 | Prostatic Neoplasms | 3 | CTD_human |
| EGFR | C0038356 | Stomach Neoplasms | 3 | CTD_human |
| EGFR | C0005695 | Bladder Neoplasm | 2 | CTD_human |
| EGFR | C0009375 | Colonic Neoplasms | 2 | CTD_human |
| EGFR | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
| EGFR | C0024668 | Mammary Neoplasms, Experimental | 2 | CTD_human |
| EGFR | C0027626 | Neoplasm Invasiveness | 2 | CTD_human |
| EGFR | C0027643 | Neoplasm Recurrence, Local | 2 | CTD_human |
| EGFR | C0152013 | Adenocarcinoma of lung (disorder) | 2 | CTD_human |
| EGFR | C0919267 | ovarian neoplasm | 2 | CTD_human |
| EGFR | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| EGFR | C0005396 | Bile Duct Neoplasms | 1 | CTD_human |
| EGFR | C0007193 | Cardiomyopathy, Dilated | 1 | CTD_human |
| EGFR | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| EGFR | C0014175 | Endometriosis | 1 | CTD_human |
| EGFR | C0016978 | gallbladder neoplasm | 1 | CTD_human |
| EGFR | C0021655 | Insulin Resistance | 1 | CTD_human |
| EGFR | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| EGFR | C0024809 | Marijuana Abuse | 1 | PSYGENET |
| EGFR | C0025500 | Mesothelioma | 1 | CTD_human |
| EGFR | C0027439 | Nasopharyngeal Neoplasms | 1 | CTD_human |
| EGFR | C0029463 | Osteosarcoma | 1 | CTD_human |
| EGFR | C0030354 | Papilloma | 1 | CTD_human |
| EGFR | C0032580 | Adenomatous Polyposis Coli | 1 | CTD_human |
| EGFR | C0034885 | Rectal Neoplasms | 1 | CTD_human |
| EGFR | C0041696 | Unipolar Depression | 1 | PSYGENET |
| EGFR | C0085548 | Autosomal Recessive Polycystic Kidney Disease | 1 | CTD_human |
| EGFR | C0085762 | Alcohol abuse | 1 | PSYGENET |
| EGFR | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
| EGFR | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
| EGFR | C0206698 | Cholangiocarcinoma | 1 | CTD_human |
| EGFR | C0263454 | Chloracne | 1 | CTD_human |
| EGFR | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| EGFR | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| EGFR | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| EGFR | C0993582 | Arthritis, Experimental | 1 | CTD_human |
| EGFR | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| EGFR | C2239176 | Liver carcinoma | 1 | CTD_human |
| EGFR | C2609414 | Acute kidney injury | 1 | CTD_human |
| EGFR | C4015130 | INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 | 1 | UNIPROT |
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