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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for ERBB3 |
Gene summary |
Gene information | Gene symbol | ERBB3 | Gene ID | 2065 |
Gene name | erb-b2 receptor tyrosine kinase 3 | |
Synonyms | ErbB-3|FERLK|HER3|LCCS2|MDA-BF-1|c-erbB-3|c-erbB3|erbB3-S|p180-ErbB3|p45-sErbB3|p85-sErbB3 | |
Cytomap | 12q13.2 | |
Type of gene | protein-coding | |
Description | receptor tyrosine-protein kinase erbB-3human epidermal growth factor receptor 3proto-oncogene-like protein c-ErbB-3tyrosine kinase-type cell surface receptor HER3v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 | |
Modification date | 20200327 | |
UniProtAcc | ||
Context | - 23637177(Dual cleavage of neuregulin 1 type III by BACE1 and ADAM17 liberates its EGF-like domain and allows paracrine signaling) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
ERBB3 | GO:0007162 | negative regulation of cell adhesion | 7556068 |
ERBB3 | GO:0007165 | signal transduction | 10572067 |
ERBB3 | GO:0009968 | negative regulation of signal transduction | 11389077 |
ERBB3 | GO:0014065 | phosphatidylinositol 3-kinase signaling | 7556068 |
ERBB3 | GO:0042127 | regulation of cell proliferation | 11389077 |
ERBB3 | GO:0051048 | negative regulation of secretion | 10559227 |
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Gene structures and expression levels for ERBB3 |
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. |
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. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | DOWN | ENST00000549832.1 | ERBB3-213:protein_coding:ERBB3 | 1.769400e+02 | -1.295989e+00 | 5.638098e-13 | 9.277145e-11 |
TC | DOWN | ENST00000549832.1 | ERBB3-213:protein_coding:ERBB3 | 8.022783e+02 | -1.513026e+00 | 4.893056e-16 | 5.258354e-13 |
TC | DOWN | ENST00000548709.1 | ERBB3-206:retained_intron:ERBB3 | 8.856643e+00 | -8.070931e-01 | 7.423057e-03 | 4.495008e-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 ERBB3 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_113642 | chr12 | 56093514:56093550:56093764:56093896:56094099:56094189 | 56093764:56093896 |
exon_skip_130077 | chr12 | 56094099:56094189:56094402:56094556:56095257:56095310 | 56094402:56094556 |
exon_skip_135606 | chr12 | 56097785:56097940:56098500:56098575:56098759:56098905 | 56098500:56098575 |
exon_skip_138058 | chr12 | 56093832:56093896:56094099:56094189:56094402:56094556 | 56094099:56094189 |
exon_skip_199943 | chr12 | 56094522:56094556:56095257:56095310:56095665:56095806 | 56095257:56095310 |
exon_skip_210985 | chr12 | 56097785:56097940:56098500:56098905:56099648:56099745 | 56098500:56098905 |
exon_skip_271634 | chr12 | 56092747:56092820:56092986:56093076:56093345:56093550 | 56092986:56093076 |
exon_skip_32267 | chr12 | 56086531:56086656:56087577:56087642:56087795:56087913 | 56087577:56087642 |
exon_skip_42513 | chr12 | 56083319:56083361:56083467:56083548:56083751:56083902 | 56083467:56083548 |
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 ERBB3 |
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 |
ENST00000267101 | 56092986 | 56093076 | Frame-shift |
ENST00000267101 | 56093764 | 56093896 | Frame-shift |
ENST00000267101 | 56094402 | 56094556 | Frame-shift |
ENST00000267101 | 56098500 | 56098575 | Frame-shift |
ENST00000267101 | 56095257 | 56095310 | 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 |
ENST00000267101 | 56092986 | 56093076 | Frame-shift |
ENST00000267101 | 56093764 | 56093896 | Frame-shift |
ENST00000267101 | 56098500 | 56098575 | Frame-shift |
ENST00000267101 | 56087577 | 56087642 | 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 |
ENST00000267101 | 56092986 | 56093076 | Frame-shift |
ENST00000267101 | 56093764 | 56093896 | Frame-shift |
ENST00000267101 | 56094099 | 56094189 | Frame-shift |
ENST00000267101 | 56094402 | 56094556 | Frame-shift |
ENST00000267101 | 56098500 | 56098575 | Frame-shift |
ENST00000267101 | 56087577 | 56087642 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ERBB3 |
p-ENSG00000065361_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 |
ENST00000267101 | 5936 | 1342 | 56095257 | 56095310 | 2301 | 2353 | 620 | 637 |
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 |
ENST00000267101 | 5936 | 1342 | 56087577 | 56087642 | 989 | 1053 | 183 | 204 |
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 |
ENST00000267101 | 5936 | 1342 | 56087577 | 56087642 | 989 | 1053 | 183 | 204 |
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 |
P21860 | 620 | 637 | 1 | 643 | Alternative sequence | ID=VSP_041661;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P21860 | 620 | 637 | 184 | 1342 | Alternative sequence | ID=VSP_002894;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7685162;Dbxref=PMID:7685162 |
P21860 | 620 | 637 | 332 | 1342 | Alternative sequence | ID=VSP_041664;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.4;Dbxref=PMID:15489334 |
P21860 | 620 | 637 | 622 | 625 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1M6B |
P21860 | 620 | 637 | 20 | 1342 | Chain | ID=PRO_0000016672;Note=Receptor tyrosine-protein kinase erbB-3 |
P21860 | 620 | 637 | 613 | 621 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P21860 | 620 | 637 | 617 | 629 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P21860 | 620 | 637 | 626 | 628 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LEO |
P21860 | 620 | 637 | 20 | 643 | Topological domain | Note=Extracellular;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 |
P21860 | 183 | 204 | 1 | 643 | Alternative sequence | ID=VSP_041661;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P21860 | 183 | 204 | 141 | 183 | Alternative sequence | ID=VSP_002893;Note=In isoform 2. EILSGGVYIEKNDKLCHMDTIDWRDIVRDRDAEIVVKDNGRSC->GQFPMVPSGLTPQPAQDWYLLDDDPRLLTLSASSKVPVTLAAV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7685162;Dbxref=PMID:7685162 |
P21860 | 183 | 204 | 184 | 1342 | Alternative sequence | ID=VSP_002894;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7685162;Dbxref=PMID:7685162 |
P21860 | 183 | 204 | 194 | 198 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1M6B |
P21860 | 183 | 204 | 20 | 1342 | Chain | ID=PRO_0000016672;Note=Receptor tyrosine-protein kinase erbB-3 |
P21860 | 183 | 204 | 156 | 183 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12154198;Dbxref=PMID:12154198 |
P21860 | 183 | 204 | 186 | 194 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12154198;Dbxref=PMID:12154198 |
P21860 | 183 | 204 | 190 | 202 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12154198;Dbxref=PMID:12154198 |
P21860 | 183 | 204 | 188 | 190 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LEO |
P21860 | 183 | 204 | 204 | 204 | Natural variant | ID=VAR_042104;Note=T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56107455,PMID:17344846 |
P21860 | 183 | 204 | 20 | 643 | 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 |
P21860 | 183 | 204 | 1 | 643 | Alternative sequence | ID=VSP_041661;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P21860 | 183 | 204 | 141 | 183 | Alternative sequence | ID=VSP_002893;Note=In isoform 2. EILSGGVYIEKNDKLCHMDTIDWRDIVRDRDAEIVVKDNGRSC->GQFPMVPSGLTPQPAQDWYLLDDDPRLLTLSASSKVPVTLAAV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7685162;Dbxref=PMID:7685162 |
P21860 | 183 | 204 | 184 | 1342 | Alternative sequence | ID=VSP_002894;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7685162;Dbxref=PMID:7685162 |
P21860 | 183 | 204 | 194 | 198 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1M6B |
P21860 | 183 | 204 | 20 | 1342 | Chain | ID=PRO_0000016672;Note=Receptor tyrosine-protein kinase erbB-3 |
P21860 | 183 | 204 | 156 | 183 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12154198;Dbxref=PMID:12154198 |
P21860 | 183 | 204 | 186 | 194 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12154198;Dbxref=PMID:12154198 |
P21860 | 183 | 204 | 190 | 202 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12154198;Dbxref=PMID:12154198 |
P21860 | 183 | 204 | 188 | 190 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LEO |
P21860 | 183 | 204 | 204 | 204 | Natural variant | ID=VAR_042104;Note=T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56107455,PMID:17344846 |
P21860 | 183 | 204 | 20 | 643 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ERBB3 |
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 ERBB3 |
- 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 ERBB3 |
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 ERBB3 |
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 ERBB3 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ERBB3 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ERBB3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |