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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for ERBB2 |
 Gene summary |
| Gene information | Gene symbol | ERBB2 | Gene ID | 2064 |
| Gene name | erb-b2 receptor tyrosine kinase 2 | |
| Synonyms | CD340|HER-2|HER-2/neu|HER2|MLN 19|NEU|NGL|TKR1 | |
| Cytomap | 17q12 | |
| Type of gene | protein-coding | |
| Description | receptor tyrosine-protein kinase erbB-2c-erb B2/neu proteinherstatinhuman epidermal growth factor receptor 2metastatic lymph node gene 19 proteinneuro/glioblastoma derived oncogene homologneuroblastoma/glioblastoma derived oncogene homologp185erbB2 | |
| Modification date | 20200329 | |
| UniProtAcc | A0A0R9RWK2, B4DTR1, E2I6F8, F5H1T4, J3KRI9, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ERBB2 | GO:0007165 | signal transduction | 10572067 |
| ERBB2 | GO:0007166 | cell surface receptor signaling pathway | 9685399 |
| ERBB2 | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | 7514177 |
| ERBB2 | GO:0014065 | phosphatidylinositol 3-kinase signaling | 7556068 |
| ERBB2 | GO:0018108 | peptidyl-tyrosine phosphorylation | 12000754 |
| ERBB2 | GO:0032886 | regulation of microtubule-based process | 20937854 |
| ERBB2 | GO:0035556 | intracellular signal transduction | 19372587 |
| ERBB2 | GO:0042060 | wound healing | 12646923 |
| ERBB2 | GO:0043406 | positive regulation of MAP kinase activity | 10572067 |
| ERBB2 | GO:0045785 | positive regulation of cell adhesion | 7556068 |
| ERBB2 | GO:0046777 | protein autophosphorylation | 7556068 |
| ERBB2 | GO:0050679 | positive regulation of epithelial cell proliferation | 10572067 |
| ERBB2 | GO:0071363 | cellular response to growth factor stimulus | 20010870 |
| ERBB2 | GO:0090314 | positive regulation of protein targeting to membrane | 20010870 |
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Gene structures and expression levels for ERBB2 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000141736
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000584684.1 | ERBB2-220:retained_intron:ERBB2 | 1.330527e+00 | 1.042323e+00 | 3.637471e-04 | 7.044228e-03 |
| PG | UP | ENST00000269571.9 | ERBB2-201:protein_coding:ERBB2 | 5.819784e+01 | 1.487860e+00 | 4.244742e-04 | 7.856569e-03 |
| PG | UP | ENST00000578373.5 | ERBB2-206:nonsense_mediated_decay:ERBB2 | 1.503427e+01 | 2.751540e+00 | 2.038815e-03 | 2.424474e-02 |
| TC | UP | ENST00000445658.6 | ERBB2-203:protein_coding:ERBB2 | 1.921614e+01 | 1.622533e+00 | 2.982063e-07 | 1.513097e-05 |
| TC | UP | ENST00000269571.9 | ERBB2-201:protein_coding:ERBB2 | 1.378716e+02 | 8.761806e-01 | 2.005538e-03 | 1.681850e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ERBB2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_102900 | chr17 | 39726815:39727003:39727295:39727547:39727689:39728044 | 39727295:39727547 |
| exon_skip_142891 | chr17 | 39712322:39712448:39713153:39713269:39715286:39715292 | 39713153:39713269 |
| exon_skip_177619 | chr17 | 39694988:39695181:39699537:39699587:39706990:39707141 | 39699537:39699587 |
| exon_skip_34586 | chr17 | 39715740:39715939:39716301:39716433:39716515:39716605 | 39716301:39716433 |
| exon_skip_41336 | chr17 | 39723538:39723660:39723912:39724010:39724726:39724911 | 39723912:39724010 |
| exon_skip_77668 | chr17 | 39717429:39717480:39719787:39719834:39723319:39723457 | 39719787:39719834 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for ERBB2 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000269571 | 39716301 | 39716433 | Frame-shift |
| ENST00000269571 | 39727295 | 39727547 | Frame-shift |
| ENST00000269571 | 39719787 | 39719834 | In-frame |
| ENST00000269571 | 39723912 | 39724010 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000269571 | 39719787 | 39719834 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000269571 | 39716301 | 39716433 | Frame-shift |
| ENST00000269571 | 39727295 | 39727547 | Frame-shift |
| ENST00000269571 | 39719787 | 39719834 | In-frame |
| ENST00000269571 | 39723912 | 39724010 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ERBB2 |
p-ENSG00000141736_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000269571 | 4562 | 1255 | 39719787 | 39719834 | 2059 | 2105 | 633 | 648 |
| ENST00000269571 | 4562 | 1255 | 39723912 | 39724010 | 2369 | 2466 | 736 | 769 |
| Loci of skipped exons in MSBB 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 |
| ENST00000269571 | 4562 | 1255 | 39719787 | 39719834 | 2059 | 2105 | 633 | 648 |
| Loci of skipped exons in Mayo 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 |
| ENST00000269571 | 4562 | 1255 | 39719787 | 39719834 | 2059 | 2105 | 633 | 648 |
| ENST00000269571 | 4562 | 1255 | 39723912 | 39724010 | 2369 | 2466 | 736 | 769 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| P04626 | 633 | 648 | 1 | 686 | Alternative sequence | ID=VSP_039250;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P04626 | 633 | 648 | 633 | 648 | Alternative sequence | ID=VSP_055902;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:24722188;Dbxref=PMID:24722188 |
| P04626 | 633 | 648 | 635 | 637 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N85 |
| P04626 | 633 | 648 | 23 | 1255 | Chain | ID=PRO_0000016669;Note=Receptor tyrosine-protein kinase erbB-2 |
| P04626 | 633 | 648 | 626 | 634 | Disulfide bond | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N85 |
| P04626 | 633 | 648 | 630 | 642 | Disulfide bond | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N85 |
| P04626 | 633 | 648 | 23 | 652 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P04626 | 736 | 769 | 730 | 739 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0 |
| P04626 | 736 | 769 | 748 | 755 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0 |
| P04626 | 736 | 769 | 753 | 753 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P04626 | 736 | 769 | 23 | 1255 | Chain | ID=PRO_0000016669;Note=Receptor tyrosine-protein kinase erbB-2 |
| P04626 | 736 | 769 | 720 | 987 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P04626 | 736 | 769 | 761 | 774 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0 |
| P04626 | 736 | 769 | 755 | 755 | Natural variant | ID=VAR_055432;Note=In LNCR%3B somatic mutation%3B unknown pathological significance. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15457249;Dbxref=dbSNP:rs121913469,PMID:15457249 |
| P04626 | 736 | 769 | 768 | 768 | Natural variant | ID=VAR_042097;Note=L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56366519,PMID:17344846 |
| P04626 | 736 | 769 | 676 | 1255 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| P04626 | 633 | 648 | 1 | 686 | Alternative sequence | ID=VSP_039250;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P04626 | 633 | 648 | 633 | 648 | Alternative sequence | ID=VSP_055902;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:24722188;Dbxref=PMID:24722188 |
| P04626 | 633 | 648 | 635 | 637 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N85 |
| P04626 | 633 | 648 | 23 | 1255 | Chain | ID=PRO_0000016669;Note=Receptor tyrosine-protein kinase erbB-2 |
| P04626 | 633 | 648 | 626 | 634 | Disulfide bond | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N85 |
| P04626 | 633 | 648 | 630 | 642 | Disulfide bond | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N85 |
| P04626 | 633 | 648 | 23 | 652 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| P04626 | 633 | 648 | 1 | 686 | Alternative sequence | ID=VSP_039250;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P04626 | 633 | 648 | 633 | 648 | Alternative sequence | ID=VSP_055902;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:24722188;Dbxref=PMID:24722188 |
| P04626 | 633 | 648 | 635 | 637 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N85 |
| P04626 | 633 | 648 | 23 | 1255 | Chain | ID=PRO_0000016669;Note=Receptor tyrosine-protein kinase erbB-2 |
| P04626 | 633 | 648 | 626 | 634 | Disulfide bond | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N85 |
| P04626 | 633 | 648 | 630 | 642 | Disulfide bond | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N85 |
| P04626 | 633 | 648 | 23 | 652 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P04626 | 736 | 769 | 730 | 739 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0 |
| P04626 | 736 | 769 | 748 | 755 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0 |
| P04626 | 736 | 769 | 753 | 753 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P04626 | 736 | 769 | 23 | 1255 | Chain | ID=PRO_0000016669;Note=Receptor tyrosine-protein kinase erbB-2 |
| P04626 | 736 | 769 | 720 | 987 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P04626 | 736 | 769 | 761 | 774 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0 |
| P04626 | 736 | 769 | 755 | 755 | Natural variant | ID=VAR_055432;Note=In LNCR%3B somatic mutation%3B unknown pathological significance. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15457249;Dbxref=dbSNP:rs121913469,PMID:15457249 |
| P04626 | 736 | 769 | 768 | 768 | Natural variant | ID=VAR_042097;Note=L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56366519,PMID:17344846 |
| P04626 | 736 | 769 | 676 | 1255 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ERBB2 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for ERBB2 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for ERBB2 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ERBB2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ERBB2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ERBB2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P04626 | approved|investigational | DB00072 | Trastuzumab | biotech | P04626 |
| P04626 | approved|investigational | DB01259 | Lapatinib | small molecule | P04626 |
| P04626 | approved|investigational | DB05773 | Trastuzumab emtansine | biotech | P04626 |
| P04626 | approved | DB06366 | Pertuzumab | biotech | P04626 |
| P04626 | approved | DB08916 | Afatinib | small molecule | P04626 |
| P04626 | approved|investigational | DB12010 | Fostamatinib | small molecule | P04626 |
| P04626 | approved|investigational | DB12267 | Brigatinib | small molecule | P04626 |
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RelatedDiseases for ERBB2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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