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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for ERBB2

check button Gene summary
Gene informationGene symbol

ERBB2

Gene ID

2064

Gene nameerb-b2 receptor tyrosine kinase 2
SynonymsCD340|HER-2|HER-2/neu|HER2|MLN 19|NEU|NGL|TKR1
Cytomap

17q12

Type of geneprotein-coding
Descriptionreceptor 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 date20180527
UniProtAcc

P04626

ContextPubMed: ERBB2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed 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:0032886

regulation of microtubule-based process

20937854

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:0045945

positive regulation of transcription by RNA polymerase III

19372587

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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Exon skipping events across known transcript of Ensembl for ERBB2 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for ERBB2

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for ERBB2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1520561737844392:37844531:37844948:37845053:37849513:3784957837844948:37845053ENSG00000141736.9ENST00000584014.1,ENST00000578199.1
exon_skip_1520621737849513:37849578:37851240:37851434:37855789:3785584037851240:37851434ENSG00000141736.9ENST00000584601.1
exon_skip_1520641737851240:37851434:37855789:37855840:37863242:3786333137855789:37855840ENSG00000141736.9ENST00000584601.1
exon_skip_1520711737856479:37856564:37863242:37863394:37864573:3786474537863242:37863394ENSG00000141736.9ENST00000584908.1,ENST00000584450.1,ENST00000269571.5,ENST00000540147.1
exon_skip_1520741737856479:37856564:37863242:37863394:37868180:3786830037863242:37863394ENSG00000141736.9ENST00000582648.1,ENST00000582788.1
exon_skip_1520751737856479:37856564:37863242:37863457:37864573:3786474537863242:37863457ENSG00000141736.9ENST00000578373.1
exon_skip_1521061737864573:37864787:37865570:37865705:37866065:3786608637865570:37865705ENSG00000141736.9ENST00000406381.2,ENST00000584908.1,ENST00000584450.1,ENST00000578373.1,ENST00000541774.1,ENST00000578199.1,ENST00000540042.1,ENST00000269571.5,ENST00000584601.1,ENST00000583038.1,ENST00000540147.1
exon_skip_1521091737866065:37866134:37866338:37866454:37866592:3786666337866338:37866454ENSG00000141736.9ENST00000406381.2,ENST00000584908.1,ENST00000584450.1,ENST00000578373.1,ENST00000541774.1,ENST00000578199.1,ENST00000540042.1,ENST00000269571.5,ENST00000584601.1,ENST00000583038.1,ENST00000583391.1,ENST00000540147.1
exon_skip_1521151737868180:37868300:37868574:37868701:37871538:3787154537868574:37868701ENSG00000141736.9ENST00000406381.2,ENST00000584450.1,ENST00000445658.2,ENST00000578373.1,ENST00000541774.1,ENST00000578199.1,ENST00000540042.1,ENST00000269571.5,ENST00000582648.1,ENST00000584601.1,ENST00000583038.1,ENST00000540147.1,ENST00000582788.1
exon_skip_1521231737868639:37868701:37869405:37869522:37871538:3787154537869405:37869522ENSG00000141736.9ENST00000578502.1
exon_skip_1521271737868639:37868701:37871538:37871612:37871698:3787175937871538:37871612ENSG00000141736.9ENST00000406381.2,ENST00000584450.1,ENST00000445658.2,ENST00000578373.1,ENST00000541774.1,ENST00000578199.1,ENST00000540042.1,ENST00000269571.5,ENST00000582648.1,ENST00000584601.1,ENST00000583038.1,ENST00000540147.1,ENST00000582788.1
exon_skip_1521551737872131:37872192:37872553:37872686:37872767:3787285837872553:37872686ENSG00000141736.9ENST00000406381.2,ENST00000584450.1,ENST00000445658.2,ENST00000578373.1,ENST00000541774.1,ENST00000578199.1,ENST00000540042.1,ENST00000269571.5,ENST00000584601.1,ENST00000540147.1
exon_skip_1521821737873681:37873733:37876039:37876087:37879571:3787971037876039:37876087ENSG00000141736.9ENST00000406381.2,ENST00000584450.1,ENST00000445658.2,ENST00000578373.1,ENST00000541774.1,ENST00000578630.1,ENST00000269571.5,ENST00000582818.1,ENST00000584601.1,ENST00000583038.1,ENST00000540147.1
exon_skip_1521871737873681:37873733:37879571:37879710:37879790:3787987737879571:37879710ENSG00000141736.9ENST00000580074.1
exon_skip_1521911737876039:37876087:37879571:37879710:37879790:3787987137879571:37879710ENSG00000141736.9ENST00000406381.2,ENST00000584450.1,ENST00000445658.2,ENST00000578373.1,ENST00000541774.1,ENST00000578630.1,ENST00000269571.5,ENST00000582818.1,ENST00000584601.1,ENST00000583038.1,ENST00000540147.1
exon_skip_1522061737879790:37879913:37880164:37880263:37880978:3788116437880164:37880263ENSG00000141736.9ENST00000406381.2,ENST00000584450.1,ENST00000445658.2,ENST00000578373.1,ENST00000541774.1,ENST00000580074.1,ENST00000269571.5,ENST00000584601.1,ENST00000583038.1,ENST00000540147.1
exon_skip_1522291737880164:37880263:37880978:37881164:37881301:3788145637880978:37881164ENSG00000141736.9ENST00000406381.2,ENST00000584450.1,ENST00000445658.2,ENST00000578373.1,ENST00000541774.1,ENST00000580074.1,ENST00000269571.5,ENST00000584601.1,ENST00000583038.1,ENST00000540147.1
exon_skip_1522471737881093:37881164:37881301:37881457:37881579:3788165537881301:37881457ENSG00000141736.9ENST00000406381.2,ENST00000584450.1,ENST00000445658.2,ENST00000578373.1,ENST00000541774.1,ENST00000269571.5,ENST00000584601.1,ENST00000540147.1
exon_skip_1522521737881579:37881655:37881959:37882106:37882814:3788291237881959:37882106ENSG00000141736.9ENST00000406381.2,ENST00000584450.1,ENST00000445658.2,ENST00000578373.1,ENST00000541774.1,ENST00000269571.5,ENST00000584601.1,ENST00000540147.1
exon_skip_1522581737881959:37882106:37882814:37882912:37883067:3788316937882814:37882912ENSG00000141736.9ENST00000406381.2,ENST00000584450.1,ENST00000445658.2,ENST00000578373.1,ENST00000541774.1,ENST00000269571.5,ENST00000584601.1,ENST00000540147.1
exon_skip_1522611737883067:37883256:37883547:37883800:37883941:3788404937883547:37883800ENSG00000141736.9ENST00000406381.2,ENST00000445658.2,ENST00000578373.1,ENST00000541774.1,ENST00000269571.5,ENST00000584601.1,ENST00000540147.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for ERBB2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1520561737844392:37844531:37844948:37845053:37849513:3784957837844948:37845053ENSG00000141736.9ENST00000584014.1,ENST00000578199.1
exon_skip_1520621737849513:37849578:37851240:37851434:37855789:3785584037851240:37851434ENSG00000141736.9ENST00000584601.1
exon_skip_1520641737851240:37851434:37855789:37855840:37863242:3786333137855789:37855840ENSG00000141736.9ENST00000584601.1
exon_skip_1520711737856479:37856564:37863242:37863394:37864573:3786474537863242:37863394ENSG00000141736.9ENST00000540147.1,ENST00000584450.1,ENST00000269571.5,ENST00000584908.1
exon_skip_1520741737856479:37856564:37863242:37863394:37868180:3786830037863242:37863394ENSG00000141736.9ENST00000582648.1,ENST00000582788.1
exon_skip_1520751737856479:37856564:37863242:37863457:37864573:3786474537863242:37863457ENSG00000141736.9ENST00000578373.1
exon_skip_1521061737864573:37864787:37865570:37865705:37866065:3786608637865570:37865705ENSG00000141736.9ENST00000584601.1,ENST00000578199.1,ENST00000406381.2,ENST00000541774.1,ENST00000540147.1,ENST00000584450.1,ENST00000578373.1,ENST00000269571.5,ENST00000584908.1,ENST00000540042.1,ENST00000583038.1
exon_skip_1521091737866065:37866134:37866338:37866454:37866592:3786666337866338:37866454ENSG00000141736.9ENST00000584601.1,ENST00000578199.1,ENST00000406381.2,ENST00000541774.1,ENST00000540147.1,ENST00000584450.1,ENST00000578373.1,ENST00000269571.5,ENST00000584908.1,ENST00000540042.1,ENST00000583038.1,ENST00000583391.1
exon_skip_1521151737868180:37868300:37868574:37868701:37871538:3787154537868574:37868701ENSG00000141736.9ENST00000584601.1,ENST00000578199.1,ENST00000406381.2,ENST00000541774.1,ENST00000445658.2,ENST00000540147.1,ENST00000584450.1,ENST00000582648.1,ENST00000582788.1,ENST00000578373.1,ENST00000269571.5,ENST00000540042.1,ENST00000583038.1
exon_skip_1521231737868639:37868701:37869405:37869522:37871538:3787154537869405:37869522ENSG00000141736.9ENST00000578502.1
exon_skip_1521271737868639:37868701:37871538:37871612:37871698:3787175937871538:37871612ENSG00000141736.9ENST00000584601.1,ENST00000578199.1,ENST00000406381.2,ENST00000541774.1,ENST00000445658.2,ENST00000540147.1,ENST00000584450.1,ENST00000582648.1,ENST00000582788.1,ENST00000578373.1,ENST00000269571.5,ENST00000540042.1,ENST00000583038.1
exon_skip_1521551737872131:37872192:37872553:37872686:37872767:3787285837872553:37872686ENSG00000141736.9ENST00000584601.1,ENST00000578199.1,ENST00000406381.2,ENST00000541774.1,ENST00000445658.2,ENST00000540147.1,ENST00000584450.1,ENST00000578373.1,ENST00000269571.5,ENST00000540042.1
exon_skip_1521821737873681:37873733:37876039:37876087:37879571:3787971037876039:37876087ENSG00000141736.9ENST00000584601.1,ENST00000406381.2,ENST00000541774.1,ENST00000445658.2,ENST00000540147.1,ENST00000584450.1,ENST00000578373.1,ENST00000269571.5,ENST00000583038.1,ENST00000582818.1,ENST00000578630.1
exon_skip_1521871737873681:37873733:37879571:37879710:37879790:3787987737879571:37879710ENSG00000141736.9ENST00000580074.1
exon_skip_1521911737876039:37876087:37879571:37879710:37879790:3787987137879571:37879710ENSG00000141736.9ENST00000584601.1,ENST00000406381.2,ENST00000541774.1,ENST00000445658.2,ENST00000540147.1,ENST00000584450.1,ENST00000578373.1,ENST00000269571.5,ENST00000583038.1,ENST00000582818.1,ENST00000578630.1
exon_skip_1522061737879790:37879913:37880164:37880263:37880978:3788116437880164:37880263ENSG00000141736.9ENST00000584601.1,ENST00000406381.2,ENST00000541774.1,ENST00000445658.2,ENST00000540147.1,ENST00000584450.1,ENST00000578373.1,ENST00000269571.5,ENST00000583038.1,ENST00000580074.1
exon_skip_1522291737880164:37880263:37880978:37881164:37881301:3788145637880978:37881164ENSG00000141736.9ENST00000584601.1,ENST00000406381.2,ENST00000541774.1,ENST00000445658.2,ENST00000540147.1,ENST00000584450.1,ENST00000578373.1,ENST00000269571.5,ENST00000583038.1,ENST00000580074.1
exon_skip_1522471737881093:37881164:37881301:37881457:37881579:3788165537881301:37881457ENSG00000141736.9ENST00000584601.1,ENST00000406381.2,ENST00000541774.1,ENST00000445658.2,ENST00000540147.1,ENST00000584450.1,ENST00000578373.1,ENST00000269571.5
exon_skip_1522521737881579:37881655:37881959:37882106:37882814:3788291237881959:37882106ENSG00000141736.9ENST00000584601.1,ENST00000406381.2,ENST00000541774.1,ENST00000445658.2,ENST00000540147.1,ENST00000584450.1,ENST00000578373.1,ENST00000269571.5
exon_skip_1522581737881959:37882106:37882814:37882912:37883067:3788316937882814:37882912ENSG00000141736.9ENST00000584601.1,ENST00000406381.2,ENST00000541774.1,ENST00000445658.2,ENST00000540147.1,ENST00000584450.1,ENST00000578373.1,ENST00000269571.5
exon_skip_1522611737883067:37883256:37883547:37883800:37883941:3788404937883547:37883800ENSG00000141736.9ENST00000584601.1,ENST00000406381.2,ENST00000541774.1,ENST00000445658.2,ENST00000540147.1,ENST00000578373.1,ENST00000269571.5

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for ERBB2

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002695713786324237863394Frame-shift
ENST000002695713786633837866454Frame-shift
ENST000002695713786857437868701Frame-shift
ENST000002695713787153837871612Frame-shift
ENST000002695713787255337872686Frame-shift
ENST000002695713787957137879710Frame-shift
ENST000002695713788281437882912Frame-shift
ENST000002695713788354737883800Frame-shift
ENST000002695713786557037865705In-frame
ENST000002695713787603937876087In-frame
ENST000002695713788016437880263In-frame
ENST000002695713788097837881164In-frame
ENST000002695713788130137881457In-frame
ENST000002695713788195937882106In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002695713786324237863394Frame-shift
ENST000002695713786633837866454Frame-shift
ENST000002695713786857437868701Frame-shift
ENST000002695713787153837871612Frame-shift
ENST000002695713787255337872686Frame-shift
ENST000002695713787957137879710Frame-shift
ENST000002695713788281437882912Frame-shift
ENST000002695713788354737883800Frame-shift
ENST000002695713786557037865705In-frame
ENST000002695713787603937876087In-frame
ENST000002695713788016437880263In-frame
ENST000002695713788097837881164In-frame
ENST000002695713788130137881457In-frame
ENST000002695713788195937882106In-frame

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Infer the effects of exon skipping event on protein functional features for ERBB2

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000269571456212553786557037865705599733146191
ENST0000026957145621255378760393787608720582105633648
ENST0000026957145621255378801643788026323682466736769
ENST0000026957145621255378809783788116424672652769831
ENST0000026957145621255378813013788145726532808831883
ENST0000026957145621255378819593788210628853031908957

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000269571456212553786557037865705599733146191
ENST0000026957145621255378760393787608720582105633648
ENST0000026957145621255378801643788026323682466736769
ENST0000026957145621255378809783788116424672652769831
ENST0000026957145621255378813013788145726532808831883
ENST0000026957145621255378819593788210628853031908957

check button 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 featureDescription of feature
P046261461911686Alternative sequenceID=VSP_039250;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P046261461911610Alternative sequenceID=VSP_039249;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04626146191147150Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A91
P04626146191152156Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MY6
P04626146191182184Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3H3B
P04626146191231255ChainID=PRO_0000016669;Note=Receptor tyrosine-protein kinase erbB-2
P04626146191162192Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PDB:1N8Z,ECO:0000244|PDB:1S78,ECO:0000244|PDB:2A91,ECO:0000244|PDB:3BE1,ECO:0000244|PDB:
P04626146191187187GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255;evidence=ECO:0000244|PDB:1N8Z,ECO:0000244|PDB:1S78,ECO:0000244|PDB:2A91,ECO:0000244|PDB:3N85,ECO:0000255
P04626146191169172HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MY6
P04626146191175177HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1N8Z
P04626146191182182Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P0462614619123652Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04626146191164166TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3H3B
P046266336481686Alternative sequenceID=VSP_039250;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04626633648633648Alternative sequenceID=VSP_055902;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:24722188;Dbxref=PMID:24722188
P04626633648635637Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N85
P04626633648231255ChainID=PRO_0000016669;Note=Receptor tyrosine-protein kinase erbB-2
P04626633648626634Disulfide bondOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N85
P04626633648630642Disulfide bondOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N85
P0462663364823652Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04626736769730739Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626736769748755Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626736769753753Binding siteNote=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P04626736769231255ChainID=PRO_0000016669;Note=Receptor tyrosine-protein kinase erbB-2
P04626736769720987DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P04626736769761774HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626736769755755Natural variantID=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
P04626736769768768Natural variantID=VAR_042097;Note=L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56366519,PMID:17344846
P046267367696761255Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04626769831771883Alternative sequenceID=VSP_055903;Note=In isoform 6. AYVMAGVGSPYVSRLLGICLTSTVQLVTQLMPYGCLLDHVRENRGRLGSQDLLNWCMQIAKGMSYLEDVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEYHADGGK->TISNLFSNFAPRGPSACCEPTCWCHSGKGQDSLPREEWGRQRRFCLWGCRGEPRVLDTPGRSCPSAPPSSCLQPSLRQPLLLGPGPTRAGGSTQHLQRDTYGREPRV
P04626769831785799Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626769831231255ChainID=PRO_0000016669;Note=Receptor tyrosine-protein kinase erbB-2
P04626769831720987DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P04626769831761774HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626769831806812HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626769831819838HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626769831774774Natural variantID=VAR_055433;Note=In LNCR%3B somatic mutation%3B unknown pathological significance. M->MAYVM;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15457249;Dbxref=PMID:15457249
P04626769831776776Natural variantID=VAR_042098;Note=In GASC%3B somatic mutation%3B unknown pathological significance. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15457249,ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs28933369,PMID:15457249,PMID:17344846
P04626769831779779Natural variantID=VAR_055434;Note=In LNCR%3B somatic mutation%3B unknown pathological significance. S->SVGS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15457249;Dbxref=PMID:15457249
P046267698316761255Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04626769831814816TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626831883845845Active siteNote=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10028
P04626831883771883Alternative sequenceID=VSP_055903;Note=In isoform 6. AYVMAGVGSPYVSRLLGICLTSTVQLVTQLMPYGCLLDHVRENRGRLGSQDLLNWCMQIAKGMSYLEDVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEYHADGGK->TISNLFSNFAPRGPSACCEPTCWCHSGKGQDSLPREEWGRQRRFCLWGCRGEPRVLDTPGRSCPSAPPSSCLQPSLRQPLLLGPGPTRAGGSTQHLQRDTYGREPRV
P04626831883851855Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626831883858861Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626831883231255ChainID=PRO_0000016669;Note=Receptor tyrosine-protein kinase erbB-2
P04626831883720987DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P04626831883819838HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626831883848850HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626831883857857Natural variantID=VAR_042099;Note=In OC%3B somatic mutation%3B unknown pathological significance. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15457249,ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs28933370,PMID:15457249,PMID:17344846
P046268318836761255Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P046269089578841255Alternative sequenceID=VSP_055904;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:24722188;Dbxref=PMID:24722188
P04626908957231255ChainID=PRO_0000016669;Note=Receptor tyrosine-protein kinase erbB-2
P04626908957720987DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P04626908957901916HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626908957928930HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626908957931936HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626908957949958HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626908957914914Natural variantID=VAR_055435;Note=In GLM%3B somatic mutation%3B unknown pathological significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15457249;Dbxref=dbSNP:rs28933368,PMID:15457249
P046269089576761255Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04626908957922925TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0


check button 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 featureDescription of feature
P046261461911686Alternative sequenceID=VSP_039250;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P046261461911610Alternative sequenceID=VSP_039249;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04626146191147150Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A91
P04626146191152156Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MY6
P04626146191182184Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3H3B
P04626146191231255ChainID=PRO_0000016669;Note=Receptor tyrosine-protein kinase erbB-2
P04626146191162192Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PDB:1N8Z,ECO:0000244|PDB:1S78,ECO:0000244|PDB:2A91,ECO:0000244|PDB:3BE1,ECO:0000244|PDB:
P04626146191187187GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255;evidence=ECO:0000244|PDB:1N8Z,ECO:0000244|PDB:1S78,ECO:0000244|PDB:2A91,ECO:0000244|PDB:3N85,ECO:0000255
P04626146191169172HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MY6
P04626146191175177HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1N8Z
P04626146191182182Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P0462614619123652Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04626146191164166TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3H3B
P046266336481686Alternative sequenceID=VSP_039250;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04626633648633648Alternative sequenceID=VSP_055902;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:24722188;Dbxref=PMID:24722188
P04626633648635637Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N85
P04626633648231255ChainID=PRO_0000016669;Note=Receptor tyrosine-protein kinase erbB-2
P04626633648626634Disulfide bondOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N85
P04626633648630642Disulfide bondOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N85
P0462663364823652Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04626736769730739Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626736769748755Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626736769753753Binding siteNote=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P04626736769231255ChainID=PRO_0000016669;Note=Receptor tyrosine-protein kinase erbB-2
P04626736769720987DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P04626736769761774HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626736769755755Natural variantID=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
P04626736769768768Natural variantID=VAR_042097;Note=L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56366519,PMID:17344846
P046267367696761255Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04626769831771883Alternative sequenceID=VSP_055903;Note=In isoform 6. AYVMAGVGSPYVSRLLGICLTSTVQLVTQLMPYGCLLDHVRENRGRLGSQDLLNWCMQIAKGMSYLEDVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEYHADGGK->TISNLFSNFAPRGPSACCEPTCWCHSGKGQDSLPREEWGRQRRFCLWGCRGEPRVLDTPGRSCPSAPPSSCLQPSLRQPLLLGPGPTRAGGSTQHLQRDTYGREPRV
P04626769831785799Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626769831231255ChainID=PRO_0000016669;Note=Receptor tyrosine-protein kinase erbB-2
P04626769831720987DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P04626769831761774HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626769831806812HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626769831819838HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626769831774774Natural variantID=VAR_055433;Note=In LNCR%3B somatic mutation%3B unknown pathological significance. M->MAYVM;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15457249;Dbxref=PMID:15457249
P04626769831776776Natural variantID=VAR_042098;Note=In GASC%3B somatic mutation%3B unknown pathological significance. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15457249,ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs28933369,PMID:15457249,PMID:17344846
P04626769831779779Natural variantID=VAR_055434;Note=In LNCR%3B somatic mutation%3B unknown pathological significance. S->SVGS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15457249;Dbxref=PMID:15457249
P046267698316761255Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04626769831814816TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626831883845845Active siteNote=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10028
P04626831883771883Alternative sequenceID=VSP_055903;Note=In isoform 6. AYVMAGVGSPYVSRLLGICLTSTVQLVTQLMPYGCLLDHVRENRGRLGSQDLLNWCMQIAKGMSYLEDVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEYHADGGK->TISNLFSNFAPRGPSACCEPTCWCHSGKGQDSLPREEWGRQRRFCLWGCRGEPRVLDTPGRSCPSAPPSSCLQPSLRQPLLLGPGPTRAGGSTQHLQRDTYGREPRV
P04626831883851855Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626831883858861Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626831883231255ChainID=PRO_0000016669;Note=Receptor tyrosine-protein kinase erbB-2
P04626831883720987DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P04626831883819838HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626831883848850HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626831883857857Natural variantID=VAR_042099;Note=In OC%3B somatic mutation%3B unknown pathological significance. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15457249,ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs28933370,PMID:15457249,PMID:17344846
P046268318836761255Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P046269089578841255Alternative sequenceID=VSP_055904;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:24722188;Dbxref=PMID:24722188
P04626908957231255ChainID=PRO_0000016669;Note=Receptor tyrosine-protein kinase erbB-2
P04626908957720987DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P04626908957901916HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626908957928930HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626908957931936HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626908957949958HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0
P04626908957914914Natural variantID=VAR_055435;Note=In GLM%3B somatic mutation%3B unknown pathological significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15457249;Dbxref=dbSNP:rs28933368,PMID:15457249
P046269089576761255Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04626908957922925TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PP0


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SNVs in the skipped exons for ERBB2

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
ERBB2_LUAD_exon_skip_152182_psi_boxplot.png
boxplot
ERBB2_PRAD_exon_skip_152155_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-G3-A3CJ-01exon_skip_152071
exon_skip_152074
37863243378633943786334037863340Frame_Shift_DelG-p.Q27fs
LIHCTCGA-G3-A3CJ-01exon_skip_152075
37863243378634573786334037863340Frame_Shift_DelG-p.Q27fs
LIHCTCGA-G3-A3CJ-01exon_skip_152106
37865571378657053786560537865605Frame_Shift_DelC-p.N128fs
LIHCTCGA-DD-A3A0-01exon_skip_152115
37868575378687013786859437868594Frame_Shift_DelG-p.M317fs
PRADTCGA-VN-A88R-01exon_skip_152155
37872554378726863787256137872561Frame_Shift_DelG-p.E477fs
LIHCTCGA-G3-A3CJ-01exon_skip_152252
37881960378821063788198537881985Frame_Shift_DelT-p.T887fs
LIHCTCGA-G3-A3CJ-01exon_skip_152252
37881960378821063788198937881989Frame_Shift_DelG-p.G889fs
LIHCTCGA-DD-A39Y-01exon_skip_152252
37881960378821063788205837882058Frame_Shift_DelC-p.P912fs
LIHCTCGA-DD-A39Y-01exon_skip_152252
37881960378821063788206437882064Frame_Shift_DelC-p.P915fs
LIHCTCGA-DD-A1EG-01exon_skip_152258
37882815378829123788288837882888Frame_Shift_DelC-p.D952fs
LIHCTCGA-DD-A3A0-01exon_skip_152258
37882815378829123788288837882888Frame_Shift_DelC-p.D952fs
LIHCTCGA-G3-A3CJ-01exon_skip_152258
37882815378829123788288837882888Frame_Shift_DelC-p.D952fs
LIHCTCGA-DD-A39Y-01exon_skip_152261
37883548378838003788373337883733Frame_Shift_DelC-p.D1085fs
LIHCTCGA-G3-A3CJ-01exon_skip_152261
37883548378838003788373337883733Frame_Shift_DelC-p.D1085fs
LIHCTCGA-DD-A3A0-01exon_skip_152261
37883548378838003788377437883774Frame_Shift_DelC-p.A1099fs
KIRCTCGA-CZ-4859-01exon_skip_152127
37871539378716123787154937871550Frame_Shift_Ins-Cp.Q357fs
KIRCTCGA-CZ-4859-01exon_skip_152127
37871539378716123787154937871550Frame_Shift_Ins-Cp.S387fs
SKCMTCGA-FS-A1ZZ-06exon_skip_152106
37865571378657053786559737865597Nonsense_MutationCTp.Q126*
SKCMTCGA-FS-A1ZZ-06exon_skip_152106
37865571378657053786559737865597Nonsense_MutationCTp.Q126X
LUADTCGA-05-4384-01exon_skip_152182
37876040378760873787603837876038Splice_SiteATp.S633_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
ERBB2_37873681_37873733_37876039_37876087_37879571_37879710_TCGA-05-4384-01Sample: TCGA-05-4384-01
Cancer type: LUAD
ESID: exon_skip_152182
Skipped exon start: 37876040
Skipped exon end: 37876087
Mutation start: 37876038
Mutation end: 37876038
Mutation type: Splice_Site
Reference seq: A
Mutation seq: T
AAchange: p.S633_splice
exon_skip_131474_LUAD_TCGA-05-4384-01.png
boxplot
exon_skip_152182_LUAD_TCGA-05-4384-01.png
boxplot
ERBB2_37872131_37872192_37872553_37872686_37872767_37872858_TCGA-VN-A88R-01Sample: TCGA-VN-A88R-01
Cancer type: PRAD
ESID: exon_skip_152155
Skipped exon start: 37872554
Skipped exon end: 37872686
Mutation start: 37872561
Mutation end: 37872561
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.E477fs
exon_skip_152155_PRAD_TCGA-VN-A88R-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
MDAMB468_BREAST37865571378657053786558537865585Frame_Shift_DelG-p.G152fs
NCIH1781_LUNG37880979378811643788099737880998In_Frame_Ins-TGTp.776_776G>VC
HEC108_ENDOMETRIUM37865571378657053786562837865628Missense_MutationCTp.T166M
SBC1_LUNG37865571378657053786566537865665Missense_MutationGTp.Q178H
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37866339378664543786634537866345Missense_MutationGAp.R217H
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37866339378664543786637237866372Missense_MutationGAp.R226H
KM12_LARGE_INTESTINE37866339378664543786638437866384Missense_MutationCTp.P230L
OC316_OVARY37871539378716123787154637871546Missense_MutationGAp.A386T
OC314_OVARY37871539378716123787154637871546Missense_MutationGAp.A386T
RL952_ENDOMETRIUM37872554378726863787259337872593Missense_MutationGTp.G518V
NCIH1793_LUNG37872554378726863787266137872661Missense_MutationGAp.V541M
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37876040378760873787607937876079Missense_MutationGCp.Q646H
NCIH2135_LUNG37876040378760873787608037876080Missense_MutationAGp.R647G
VMCUB1_URINARY_TRACT37879572378797103787958337879583Missense_MutationCGp.S653C
HEC265_ENDOMETRIUM37879572378797103787959837879598Missense_MutationTCp.V658A
NCIH1618_LUNG37879572378797103787964537879645Missense_MutationCTp.L674F
SNUC2A_LARGE_INTESTINE37879572378797103787965837879658Missense_MutationGAp.R678Q
J82_URINARY_TRACT37879572378797103787965837879658Missense_MutationGAp.R678Q
SNUC2B_LARGE_INTESTINE37879572378797103787965837879658Missense_MutationGAp.R678Q
SNU324_PANCREAS37879572378797103787965837879658Missense_MutationGAp.R678Q
UPCISCC152_UPPER_AERODIGESTIVE_TRACT37879572378797103787968237879682Missense_MutationCGp.T686R
SCC90_UPPER_AERODIGESTIVE_TRACT37879572378797103787968237879682Missense_MutationCGp.T686R
LS411N_LARGE_INTESTINE37880165378802633788018637880186Missense_MutationGAp.E744K
LN229_CENTRAL_NERVOUS_SYSTEM37880165378802633788022037880220Missense_MutationTCp.L755S
CW2_LARGE_INTESTINE37880165378802633788022037880220Missense_MutationTCp.L755S
ECC10_STOMACH37880165378802633788022037880220Missense_MutationTCp.L755S
TUHR14TKB_KIDNEY37880165378802633788026137880261Missense_MutationGTp.D769Y
OVCAR8_OVARY37880979378811643788099837880998Missense_MutationGTp.G776V
SNU1040_LARGE_INTESTINE37880979378811643788100037881000Missense_MutationGAp.V777M
RKO_LARGE_INTESTINE37880979378811643788105837881058Missense_MutationTCp.L796P
HEC1A_ENDOMETRIUM37880979378811643788106437881064Missense_MutationCTp.T798I
HEC1_ENDOMETRIUM37880979378811643788106437881064Missense_MutationCTp.T798I
HEC1B_ENDOMETRIUM37880979378811643788106437881064Missense_MutationCTp.T798I
HCC2998_LARGE_INTESTINE37880979378811643788111837881118Missense_MutationGAp.R816H
FTC238_THYROID37880979378811643788116037881160Missense_MutationCTp.A830V
FTC133_THYROID37880979378811643788116037881160Missense_MutationCTp.A830V
DV90_LUNG37881302378814573788133237881332Missense_MutationGAp.V842I
EFO27_OVARY37881302378814573788133237881332Missense_MutationGAp.V842I
HEC1A_ENDOMETRIUM37881302378814573788133237881332Missense_MutationGAp.V842I
HEC1_ENDOMETRIUM37881302378814573788133237881332Missense_MutationGAp.V842I
HEC1B_ENDOMETRIUM37881302378814573788133237881332Missense_MutationGAp.V842I
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37881960378821063788204037882040Missense_MutationGAp.E936K
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37883548378838003788365737883657Missense_MutationTCp.L1090P
SISO_CERVIX37883548378838003788367537883675Missense_MutationAGp.K1096R
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37883548378838003788367537883675Missense_MutationAGp.K1096R
SNU1040_LARGE_INTESTINE37882815378829123788283737882837Nonsense_MutationTAp.C965*
HS870T_FIBROBLAST37863243378633943786324337863243Splice_SiteTCp.V25A
HS870T_FIBROBLAST37863243378634573786324337863243Splice_SiteTCp.V25A
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37868575378687013786870037868700Splice_SiteG-p.G383fs

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ERBB2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ERBB2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ERBB2


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RelatedDrugs for ERBB2

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P04626DB06366PertuzumabReceptor tyrosine-protein kinase erbB-2biotechapproved
P04626DB08916AfatinibReceptor tyrosine-protein kinase erbB-2small moleculeapproved
P04626DB00072TrastuzumabReceptor tyrosine-protein kinase erbB-2biotechapproved|investigational
P04626DB01259LapatinibReceptor tyrosine-protein kinase erbB-2small moleculeapproved|investigational
P04626DB05773Trastuzumab emtansineReceptor tyrosine-protein kinase erbB-2biotechapproved|investigational
P04626DB12010FostamatinibReceptor tyrosine-protein kinase erbB-2small moleculeapproved|investigational
P04626DB12267BrigatinibReceptor tyrosine-protein kinase erbB-2small moleculeapproved|investigational

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RelatedDiseases for ERBB2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
ERBB2C1458155Mammary Neoplasms40CTD_human
ERBB2C0033578Prostatic Neoplasms3CTD_human
ERBB2C0038356Stomach Neoplasms3CTD_human
ERBB2C0001418Adenocarcinoma2CTD_human
ERBB2C0024668Mammary Neoplasms, Experimental2CTD_human
ERBB2C0919267ovarian neoplasm2CTD_human
ERBB2C0007117Basal cell carcinoma1CTD_human
ERBB2C0007134Renal Cell Carcinoma1CTD_human
ERBB2C0009375Colonic Neoplasms1CTD_human
ERBB2C0014859Esophageal Neoplasms1CTD_human
ERBB2C0016978gallbladder neoplasm1CTD_human
ERBB2C0017185Gastrointestinal Neoplasms1CTD_human
ERBB2C0024121Lung Neoplasms1CTD_human
ERBB2C0024232Lymphatic Metastasis1CTD_human
ERBB2C0024667Animal Mammary Neoplasms1CTD_human
ERBB2C0025149Medulloblastoma1CTD_human
ERBB2C0027627Neoplasm Metastasis1CTD_human
ERBB2C0027643Neoplasm Recurrence, Local1CTD_human
ERBB2C0027659Neoplasms, Experimental1CTD_human
ERBB2C0030354Papilloma1CTD_human
ERBB2C0206698Cholangiocarcinoma1CTD_human
ERBB2C0596263Carcinogenesis1CTD_human
ERBB2C2931822Nasopharyngeal carcinoma1CTD_human