ExonSkipDB: functional annotation of exon skipping event in human

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\|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	20180527
	UniProtAcc	P21860
	Context	PubMed: ERBB3 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

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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Exon skipping events across known transcript of Ensembl for ERBB3 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 ERBB3

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for ERBB3

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_83978	12	56473640:56473718:56474128:56474166:56477534:56477686	56474128:56474166	ENSG00000065361.10	ENST00000549061.1
exon_skip_83983	12	56474128:56474166:56477534:56477686:56478778:56478923	56477534:56477686	ENSG00000065361.10	ENST00000546884.1,ENST00000551085.1,ENST00000267101.3,ENST00000551242.1,ENST00000411731.2,ENST00000549061.1,ENST00000549282.1
exon_skip_83986	12	56477102:56477145:56477250:56477332:56477534:56477686	56477250:56477332	ENSG00000065361.10	ENST00000415288.2
exon_skip_83990	12	56480314:56480440:56481360:56481426:56481578:56481697	56481360:56481426	ENSG00000065361.10	ENST00000415288.2,ENST00000551085.1,ENST00000267101.3,ENST00000551242.1
exon_skip_83991	12	56481360:56481426:56481578:56481697:56481804:56481848	56481578:56481697	ENSG00000065361.10	ENST00000415288.2,ENST00000551085.1,ENST00000267101.3,ENST00000551242.1
exon_skip_83992	12	56481804:56481946:56482326:56482440:56482531:56482652	56482326:56482440	ENSG00000065361.10	ENST00000546748.1,ENST00000415288.2,ENST00000551085.1,ENST00000267101.3
exon_skip_83993	12	56486530:56486604:56486769:56486860:56487128:56487334	56486769:56486860	ENSG00000065361.10	ENST00000415288.2,ENST00000551085.1,ENST00000267101.3
exon_skip_83994	12	56487297:56487334:56487547:56487680:56487882:56487973	56487547:56487680	ENSG00000065361.10	ENST00000415288.2,ENST00000549205.1,ENST00000551085.1,ENST00000267101.3
exon_skip_83997	12	56487882:56487973:56488185:56488340:56489040:56489094	56488185:56488340	ENSG00000065361.10	ENST00000415288.2,ENST00000551085.1,ENST00000267101.3,ENST00000550070.2
exon_skip_83998	12	56489448:56489590:56490286:56490406:56490531:56490553	56490286:56490406	ENSG00000065361.10	ENST00000415288.2,ENST00000450146.2,ENST00000551085.1,ENST00000267101.3,ENST00000550869.1
exon_skip_84000	12	56490286:56490406:56490531:56490630:56490828:56491014	56490531:56490630	ENSG00000065361.10	ENST00000415288.2,ENST00000450146.2,ENST00000553131.1,ENST00000551085.1,ENST00000267101.3
exon_skip_84002	12	56490531:56490630:56490828:56491014:56491568:56491724	56490828:56491014	ENSG00000065361.10	ENST00000415288.2,ENST00000450146.2,ENST00000553131.1,ENST00000551085.1,ENST00000267101.3
exon_skip_84005	12	56491568:56491724:56492283:56492359:56492542:56492689	56492283:56492359	ENSG00000065361.10	ENST00000415288.2,ENST00000548709.1,ENST00000450146.2,ENST00000553131.1,ENST00000267101.3
exon_skip_84007	12	56491568:56491724:56492283:56492689:56493431:56493529	56492283:56492689	ENSG00000065361.10	ENST00000551085.1
exon_skip_84009	12	56492283:56492359:56492542:56492689:56493431:56493529	56492542:56492689	ENSG00000065361.10	ENST00000415288.2,ENST00000450146.2,ENST00000553131.1,ENST00000267101.3,ENST00000550070.2
exon_skip_84010	12	56493431:56493529:56493621:56493813:56493957:56494029	56493621:56493813	ENSG00000065361.10	ENST00000549832.1,ENST00000415288.2,ENST00000450146.2,ENST00000553131.1,ENST00000551085.1,ENST00000267101.3,ENST00000550070.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ERBB3

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_83978	12	56473640:56473718:56474128:56474166:56477534:56477686	56474128:56474166	ENSG00000065361.10	ENST00000549061.1
exon_skip_83983	12	56474128:56474166:56477534:56477686:56478778:56478923	56477534:56477686	ENSG00000065361.10	ENST00000549282.1,ENST00000549061.1,ENST00000267101.3,ENST00000411731.2,ENST00000551085.1,ENST00000546884.1,ENST00000551242.1
exon_skip_83986	12	56477102:56477145:56477250:56477332:56477534:56477686	56477250:56477332	ENSG00000065361.10	ENST00000415288.2
exon_skip_83990	12	56480314:56480440:56481360:56481426:56481578:56481697	56481360:56481426	ENSG00000065361.10	ENST00000267101.3,ENST00000551085.1,ENST00000551242.1,ENST00000415288.2
exon_skip_83991	12	56481360:56481426:56481578:56481697:56481804:56481848	56481578:56481697	ENSG00000065361.10	ENST00000267101.3,ENST00000551085.1,ENST00000551242.1,ENST00000415288.2
exon_skip_83992	12	56481804:56481946:56482326:56482440:56482531:56482652	56482326:56482440	ENSG00000065361.10	ENST00000267101.3,ENST00000551085.1,ENST00000415288.2,ENST00000546748.1
exon_skip_83993	12	56486530:56486604:56486769:56486860:56487128:56487334	56486769:56486860	ENSG00000065361.10	ENST00000267101.3,ENST00000551085.1,ENST00000415288.2
exon_skip_83994	12	56487297:56487334:56487547:56487680:56487882:56487973	56487547:56487680	ENSG00000065361.10	ENST00000267101.3,ENST00000551085.1,ENST00000415288.2,ENST00000549205.1
exon_skip_83997	12	56487882:56487973:56488185:56488340:56489040:56489094	56488185:56488340	ENSG00000065361.10	ENST00000267101.3,ENST00000551085.1,ENST00000415288.2,ENST00000550070.2
exon_skip_83998	12	56489448:56489590:56490286:56490406:56490531:56490553	56490286:56490406	ENSG00000065361.10	ENST00000267101.3,ENST00000550869.1,ENST00000450146.2,ENST00000551085.1,ENST00000415288.2
exon_skip_84000	12	56490286:56490406:56490531:56490630:56490828:56491014	56490531:56490630	ENSG00000065361.10	ENST00000267101.3,ENST00000450146.2,ENST00000551085.1,ENST00000415288.2,ENST00000553131.1
exon_skip_84002	12	56490531:56490630:56490828:56491014:56491568:56491724	56490828:56491014	ENSG00000065361.10	ENST00000267101.3,ENST00000450146.2,ENST00000551085.1,ENST00000415288.2,ENST00000553131.1
exon_skip_84005	12	56491568:56491724:56492283:56492359:56492542:56492689	56492283:56492359	ENSG00000065361.10	ENST00000267101.3,ENST00000450146.2,ENST00000415288.2,ENST00000553131.1,ENST00000548709.1
exon_skip_84007	12	56491568:56491724:56492283:56492689:56493431:56493529	56492283:56492689	ENSG00000065361.10	ENST00000551085.1
exon_skip_84009	12	56492283:56492359:56492542:56492689:56493431:56493529	56492542:56492689	ENSG00000065361.10	ENST00000267101.3,ENST00000450146.2,ENST00000415288.2,ENST00000550070.2,ENST00000553131.1
exon_skip_84010	12	56493431:56493529:56493621:56493813:56493957:56494029	56493621:56493813	ENSG00000065361.10	ENST00000267101.3,ENST00000450146.2,ENST00000551085.1,ENST00000415288.2,ENST00000550070.2,ENST00000553131.1,ENST00000549832.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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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 TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000267101	56477534	56477686	Frame-shift
ENST00000267101	56481578	56481697	Frame-shift
ENST00000267101	56486769	56486860	Frame-shift
ENST00000267101	56487547	56487680	Frame-shift
ENST00000267101	56488185	56488340	Frame-shift
ENST00000267101	56492283	56492359	Frame-shift
ENST00000267101	56481360	56481426	In-frame
ENST00000267101	56482326	56482440	In-frame
ENST00000267101	56490286	56490406	In-frame
ENST00000267101	56490531	56490630	In-frame
ENST00000267101	56490828	56491014	In-frame
ENST00000267101	56492542	56492689	In-frame
ENST00000267101	56493621	56493813	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
ENST00000267101	56477534	56477686	Frame-shift
ENST00000267101	56481578	56481697	Frame-shift
ENST00000267101	56486769	56486860	Frame-shift
ENST00000267101	56487547	56487680	Frame-shift
ENST00000267101	56488185	56488340	Frame-shift
ENST00000267101	56492283	56492359	Frame-shift
ENST00000267101	56481360	56481426	In-frame
ENST00000267101	56482326	56482440	In-frame
ENST00000267101	56490286	56490406	In-frame
ENST00000267101	56490531	56490630	In-frame
ENST00000267101	56490828	56491014	In-frame
ENST00000267101	56492542	56492689	In-frame
ENST00000267101	56493621	56493813	In-frame

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Infer the effects of exon skipping event on protein functional features for ERBB3

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

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
ENST00000267101	5936	1342	56481360	56481426	988	1053	182	204
ENST00000267101	5936	1342	56482326	56482440	1315	1428	291	329
ENST00000267101	5936	1342	56490286	56490406	2496	2615	685	725
ENST00000267101	5936	1342	56490531	56490630	2616	2714	725	758
ENST00000267101	5936	1342	56490828	56491014	2715	2900	758	820
ENST00000267101	5936	1342	56492542	56492689	3133	3279	897	946
ENST00000267101	5936	1342	56493621	56493813	3378	3569	979	1043

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
ENST00000267101	5936	1342	56481360	56481426	988	1053	182	204
ENST00000267101	5936	1342	56482326	56482440	1315	1428	291	329
ENST00000267101	5936	1342	56490286	56490406	2496	2615	685	725
ENST00000267101	5936	1342	56490531	56490630	2616	2714	725	758
ENST00000267101	5936	1342	56490828	56491014	2715	2900	758	820
ENST00000267101	5936	1342	56492542	56492689	3133	3279	897	946
ENST00000267101	5936	1342	56493621	56493813	3378	3569	979	1043

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
P21860	182	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	182	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	182	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	182	204	194	198	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1M6B
P21860	182	204	20	1342	Chain	ID=PRO_0000016672;Note=Receptor tyrosine-protein kinase erbB-3
P21860	182	204	156	183	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12154198;Dbxref=PMID:12154198
P21860	182	204	186	194	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12154198;Dbxref=PMID:12154198
P21860	182	204	190	202	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12154198;Dbxref=PMID:12154198
P21860	182	204	188	190	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LEO
P21860	182	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	182	204	20	643	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P21860	291	329	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	291	329	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	291	329	295	297	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1M6B
P21860	291	329	300	304	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1M6B
P21860	291	329	309	314	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1M6B
P21860	291	329	317	322	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1M6B
P21860	291	329	324	326	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LEO
P21860	291	329	20	1342	Chain	ID=PRO_0000016672;Note=Receptor tyrosine-protein kinase erbB-3
P21860	291	329	290	301	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12154198;Dbxref=PMID:12154198
P21860	291	329	305	320	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12154198;Dbxref=PMID:12154198
P21860	291	329	323	327	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12154198;Dbxref=PMID:12154198
P21860	291	329	20	643	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P21860	685	725	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	685	725	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	685	725	709	716	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	685	725	722	728	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	685	725	20	1342	Chain	ID=PRO_0000016672;Note=Receptor tyrosine-protein kinase erbB-3
P21860	685	725	709	966	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P21860	685	725	706	708	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	685	725	686	686	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
P21860	685	725	717	717	Natural variant	ID=VAR_042106;Note=S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs35961836,PMID:17344846
P21860	685	725	715	723	Nucleotide binding	Note=ATP
P21860	685	725	665	1342	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P21860	725	758	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	725	758	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	725	758	722	728	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	725	758	731	733	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LMG
P21860	725	758	737	744	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	725	758	753	755	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4RIY
P21860	725	758	742	742	Binding site	Note=ATP
P21860	725	758	20	1342	Chain	ID=PRO_0000016672;Note=Receptor tyrosine-protein kinase erbB-3
P21860	725	758	709	966	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P21860	725	758	758	764	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	725	758	742	742	Mutagenesis	Note=Strongly reduced autophosphorylation. K->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20351256;Dbxref=PMID:20351256
P21860	725	758	744	744	Natural variant	ID=VAR_042107;Note=I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs55787439,PMID:17344846
P21860	725	758	665	1342	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P21860	725	758	747	749	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	758	820	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	758	820	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	758	820	774	778	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	758	820	780	788	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	758	820	20	1342	Chain	ID=PRO_0000016672;Note=Receptor tyrosine-protein kinase erbB-3
P21860	758	820	709	966	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P21860	758	820	758	764	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	758	820	795	802	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	758	820	803	805	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	758	820	808	827	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	758	820	788	790	Nucleotide binding	Note=ATP
P21860	758	820	665	1342	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P21860	897	946	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	897	946	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	897	946	20	1342	Chain	ID=PRO_0000016672;Note=Receptor tyrosine-protein kinase erbB-3
P21860	897	946	709	966	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P21860	897	946	890	905	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	897	946	917	919	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	897	946	920	925	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	897	946	938	947	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	897	946	665	1342	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P21860	897	946	911	914	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	979	1043	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	979	1043	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	979	1043	980	983	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3KEX
P21860	979	1043	20	1342	Chain	ID=PRO_0000016672;Note=Receptor tyrosine-protein kinase erbB-3
P21860	979	1043	982	982	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P21860	979	1043	998	998	Natural variant	ID=VAR_042108;Note=K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56259600,PMID:17344846
P21860	979	1043	665	1342	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
P21860	182	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	182	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	182	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	182	204	194	198	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1M6B
P21860	182	204	20	1342	Chain	ID=PRO_0000016672;Note=Receptor tyrosine-protein kinase erbB-3
P21860	182	204	156	183	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12154198;Dbxref=PMID:12154198
P21860	182	204	186	194	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12154198;Dbxref=PMID:12154198
P21860	182	204	190	202	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12154198;Dbxref=PMID:12154198
P21860	182	204	188	190	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LEO
P21860	182	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	182	204	20	643	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P21860	291	329	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	291	329	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	291	329	295	297	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1M6B
P21860	291	329	300	304	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1M6B
P21860	291	329	309	314	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1M6B
P21860	291	329	317	322	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1M6B
P21860	291	329	324	326	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LEO
P21860	291	329	20	1342	Chain	ID=PRO_0000016672;Note=Receptor tyrosine-protein kinase erbB-3
P21860	291	329	290	301	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12154198;Dbxref=PMID:12154198
P21860	291	329	305	320	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12154198;Dbxref=PMID:12154198
P21860	291	329	323	327	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12154198;Dbxref=PMID:12154198
P21860	291	329	20	643	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P21860	685	725	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	685	725	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	685	725	709	716	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	685	725	722	728	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	685	725	20	1342	Chain	ID=PRO_0000016672;Note=Receptor tyrosine-protein kinase erbB-3
P21860	685	725	709	966	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P21860	685	725	706	708	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	685	725	686	686	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
P21860	685	725	717	717	Natural variant	ID=VAR_042106;Note=S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs35961836,PMID:17344846
P21860	685	725	715	723	Nucleotide binding	Note=ATP
P21860	685	725	665	1342	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P21860	725	758	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	725	758	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	725	758	722	728	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	725	758	731	733	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LMG
P21860	725	758	737	744	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	725	758	753	755	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4RIY
P21860	725	758	742	742	Binding site	Note=ATP
P21860	725	758	20	1342	Chain	ID=PRO_0000016672;Note=Receptor tyrosine-protein kinase erbB-3
P21860	725	758	709	966	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P21860	725	758	758	764	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	725	758	742	742	Mutagenesis	Note=Strongly reduced autophosphorylation. K->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20351256;Dbxref=PMID:20351256
P21860	725	758	744	744	Natural variant	ID=VAR_042107;Note=I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs55787439,PMID:17344846
P21860	725	758	665	1342	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P21860	725	758	747	749	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	758	820	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	758	820	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	758	820	774	778	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	758	820	780	788	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	758	820	20	1342	Chain	ID=PRO_0000016672;Note=Receptor tyrosine-protein kinase erbB-3
P21860	758	820	709	966	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P21860	758	820	758	764	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	758	820	795	802	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	758	820	803	805	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	758	820	808	827	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	758	820	788	790	Nucleotide binding	Note=ATP
P21860	758	820	665	1342	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P21860	897	946	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	897	946	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	897	946	20	1342	Chain	ID=PRO_0000016672;Note=Receptor tyrosine-protein kinase erbB-3
P21860	897	946	709	966	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P21860	897	946	890	905	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	897	946	917	919	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	897	946	920	925	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	897	946	938	947	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	897	946	665	1342	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P21860	897	946	911	914	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4OTW
P21860	979	1043	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	979	1043	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	979	1043	980	983	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3KEX
P21860	979	1043	20	1342	Chain	ID=PRO_0000016672;Note=Receptor tyrosine-protein kinase erbB-3
P21860	979	1043	982	982	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P21860	979	1043	998	998	Natural variant	ID=VAR_042108;Note=K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56259600,PMID:17344846
P21860	979	1043	665	1342	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

Top

SNVs in the skipped exons for ERBB3

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

- Differential PSIs between mutated versus non-mutated samples.

ERBB3_COAD_exon_skip_84002_psi_boxplot.png
boxplot

ERBB3_KIRC_exon_skip_84002_psi_boxplot.png
boxplot

ERBB3_SKCM_exon_skip_83997_psi_boxplot.png
boxplot

ERBB3_SKCM_exon_skip_84002_psi_boxplot.png
boxplot

- 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-A3A0-01	exon_skip_83978	56474129	56474166	56474137	56474137	Frame_Shift_Del	G	-	p.R18fs
LIHC	TCGA-DD-A3A0-01	exon_skip_83983	56477535	56477686	56477676	56477676	Frame_Shift_Del	C	-	p.S75fs
LIHC	TCGA-DD-A39Y-01	exon_skip_83990	56481361	56481426	56481363	56481363	Frame_Shift_Del	C	-	p.P185fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_83990	56481361	56481426	56481363	56481363	Frame_Shift_Del	C	-	p.P185fs
LIHC	TCGA-DD-A3A0-01	exon_skip_83991	56481579	56481697	56481631	56481631	Frame_Shift_Del	C	-	p.N222fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_83991	56481579	56481697	56481631	56481631	Frame_Shift_Del	C	-	p.N222fs
LIHC	TCGA-DD-A39Y-01	exon_skip_83991	56481579	56481697	56481662	56481662	Frame_Shift_Del	G	-	p.G234fs
COAD	TCGA-AA-3713-01	exon_skip_84002	56490829	56491014	56490962	56490962	Frame_Shift_Del	G	-	p.R803fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_84002	56490829	56491014	56490962	56490962	Frame_Shift_Del	G	-	p.R803fs
KIRC	TCGA-B0-5690-01	exon_skip_83993	56486770	56486860	56486848	56486849	Frame_Shift_Ins	-	A	p.R421fs
KIRC	TCGA-A3-3346-01	exon_skip_84002	56490829	56491014	56490961	56490962	Frame_Shift_Ins	-	G	p.G803fs
SKCM	TCGA-DA-A1I5-06	exon_skip_84002	56490829	56491014	56490961	56490962	Frame_Shift_Ins	-	G	p.G803fs
SKCM	TCGA-DA-A1I5-06	exon_skip_84002	56490829	56491014	56490961	56490962	Frame_Shift_Ins	-	G	p.R803fs
SKCM	TCGA-EE-A181-06	exon_skip_83997	56488186	56488340	56488219	56488219	Nonsense_Mutation	C	T	p.R580*
SKCM	TCGA-EE-A181-06	exon_skip_83997	56488186	56488340	56488219	56488219	Nonsense_Mutation	C	T	p.R580X

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-DA-A1I5-06
	Cancer type: SKCM
	ESID: exon_skip_84002
	Skipped exon start: 56490829
	Skipped exon end: 56491014
	Mutation start: 56490961
	Mutation end: 56490962
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.R803fs
	Sample: TCGA-DA-A1I5-06
	Cancer type: SKCM
	ESID: exon_skip_84002
	Skipped exon start: 56490829
	Skipped exon end: 56491014
	Mutation start: 56490961
	Mutation end: 56490962
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.G803fs
exon_skip_84002_SKCM_TCGA-DA-A1I5-06.png
	Sample: TCGA-EE-A181-06
	Cancer type: SKCM
	ESID: exon_skip_83997
	Skipped exon start: 56488186
	Skipped exon end: 56488340
	Mutation start: 56488219
	Mutation end: 56488219
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R580X
	Sample: TCGA-EE-A181-06
	Cancer type: SKCM
	ESID: exon_skip_83997
	Skipped exon start: 56488186
	Skipped exon end: 56488340
	Mutation start: 56488219
	Mutation end: 56488219
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R580*
exon_skip_284772_SKCM_TCGA-EE-A181-06.png
exon_skip_330962_SKCM_TCGA-EE-A181-06.png
exon_skip_330963_SKCM_TCGA-EE-A181-06.png
exon_skip_479774_SKCM_TCGA-EE-A181-06.png
exon_skip_83997_SKCM_TCGA-EE-A181-06.png

- 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
MFE296_ENDOMETRIUM	56481361	56481426	56481363	56481363	Frame_Shift_Del	C	-	p.P185fs
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56486770	56486860	56486818	56486818	Frame_Shift_Del	T	-	p.V411fs
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56492284	56492689	56492628	56492628	Frame_Shift_Del	G	-	p.K926fs
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56492543	56492689	56492628	56492628	Frame_Shift_Del	G	-	p.K926fs
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56490287	56490406	56490319	56490320	Frame_Shift_Ins	-	A	p.N697fs
NCIH2106_LUNG	56474129	56474166	56474143	56474143	Missense_Mutation	C	A	p.S20Y
K2_SKIN	56477535	56477686	56477615	56477615	Missense_Mutation	A	T	p.R55W
SNUC5_LARGE_INTESTINE	56477535	56477686	56477647	56477647	Missense_Mutation	T	G	p.I65M
SNU1040_LARGE_INTESTINE	56481579	56481697	56481660	56481660	Missense_Mutation	C	T	p.A232V
FADU_UPPER_AERODIGESTIVE_TRACT	56482327	56482440	56482341	56482341	Missense_Mutation	G	C	p.D297H
KYSE150_OESOPHAGUS	56482327	56482440	56482341	56482341	Missense_Mutation	G	T	p.D297Y
SNU324_PANCREAS	56482327	56482440	56482423	56482423	Missense_Mutation	G	A	p.G324E
CP66MEL_SKIN	56482327	56482440	56482425	56482425	Missense_Mutation	G	A	p.G325R
WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56486770	56486860	56486815	56486815	Missense_Mutation	G	A	p.S410N
SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56487548	56487680	56487608	56487608	Missense_Mutation	C	T	p.P514L
EMCBAC1_LUNG	56487548	56487680	56487635	56487635	Missense_Mutation	A	G	p.Y523C
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56488186	56488340	56488252	56488252	Missense_Mutation	C	T	p.H591Y
K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56488186	56488340	56488312	56488312	Missense_Mutation	C	T	p.R611W
UMUC3_URINARY_TRACT	56490287	56490406	56490296	56490296	Missense_Mutation	C	T	p.P689S
LS411N_LARGE_INTESTINE	56490287	56490406	56490317	56490317	Missense_Mutation	G	T	p.A696S
IGROV1_OVARY	56490532	56490630	56490580	56490580	Missense_Mutation	A	G	p.K742E
SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56490829	56491014	56490989	56490989	Missense_Mutation	T	A	p.L812H
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56492284	56492359	56492310	56492310	Missense_Mutation	G	C	p.E881D
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56492284	56492689	56492310	56492310	Missense_Mutation	G	C	p.E881D
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56492284	56492359	56492330	56492330	Missense_Mutation	A	G	p.Y888C
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56492284	56492689	56492330	56492330	Missense_Mutation	A	G	p.Y888C
HEC6_ENDOMETRIUM	56492284	56492689	56492633	56492633	Missense_Mutation	A	G	p.E928G
HEC6_ENDOMETRIUM	56492543	56492689	56492633	56492633	Missense_Mutation	A	G	p.E928G
CW2_LARGE_INTESTINE	56492284	56492689	56492633	56492633	Missense_Mutation	A	G	p.E928G
CW2_LARGE_INTESTINE	56492543	56492689	56492633	56492633	Missense_Mutation	A	G	p.E928G
RERFGC1B_STOMACH	56493622	56493813	56493625	56493625	Missense_Mutation	G	C	p.E981Q
HUCCT1_BILIARY_TRACT	56493622	56493813	56493625	56493625	Missense_Mutation	G	C	p.E981Q
OCILY132_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56493622	56493813	56493662	56493662	Missense_Mutation	A	G	p.H993R
TE9_OESOPHAGUS	56493622	56493813	56493691	56493691	Missense_Mutation	G	C	p.V1003L
HEC1_ENDOMETRIUM	56493622	56493813	56493738	56493738	Missense_Mutation	G	T	p.E1018D
NCIH2110_LUNG	56493622	56493813	56493796	56493796	Missense_Mutation	C	G	p.L1038V
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56493622	56493813	56493808	56493808	Missense_Mutation	C	T	p.R1042C
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56481361	56481426	56481390	56481390	Nonsense_Mutation	C	T	p.R193*
LB1047EBV_MATCHED_NORMAL_TISSUE	56490829	56491014	56490955	56490955	Nonsense_Mutation	C	T	p.Q801*
MFE319_ENDOMETRIUM	56492284	56492689	56492556	56492556	Nonsense_Mutation	G	A	p.W902*
MFE319_ENDOMETRIUM	56492543	56492689	56492556	56492556	Nonsense_Mutation	G	A	p.W902*
LS411N_LARGE_INTESTINE	56481361	56481426	56481362	56481362	Splice_Site	T	C	p.C183C

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ERBB3

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

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ERBB3

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ERBB3

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RelatedDrugs for ERBB3

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

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RelatedDiseases for ERBB3

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ERBB3	C0036341	Schizophrenia	3	PSYGENET
ERBB3	C0005586	Bipolar Disorder	1	PSYGENET
ERBB3	C0011570	Mental Depression	1	PSYGENET
ERBB3	C0016978	gallbladder neoplasm	1	CTD_human
ERBB3	C0024121	Lung Neoplasms	1	CTD_human
ERBB3	C0033578	Prostatic Neoplasms	1	CTD_human
ERBB3	C0041696	Unipolar Depression	1	PSYGENET
ERBB3	C1269683	Major Depressive Disorder	1	PSYGENET
ERBB3	C1458155	Mammary Neoplasms	1	CTD_human
ERBB3	C2931822	Nasopharyngeal carcinoma	1	CTD_human

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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