ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for ERBB4

Gene summary

Gene information	Gene symbol	ERBB4
	Gene ID	2066
	Gene name	erb-b2 receptor tyrosine kinase 4
	Synonyms	ALS19\|HER4\|p180erbB4
	Cytomap	2q34
	Type of gene	protein-coding
	Description	receptor tyrosine-protein kinase erbB-4avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4human epidermal growth factor receptor 4proto-oncogene-like protein c-ErbB-4tyrosine kinase-type cell surface receptor HER4v-erb-a erythroblastic
	Modification date	20200327
	UniProtAcc	A0A0A0MSE1, A0A0P0I3A3, A0A0P0IT07, E9PDR1, H3BLT0, L8E872, Q15303, Q4ZG14, Q53QS8, Q53R25, Q53R48, Q53T57, Q580Q7,
	Context	- 28684271(Ablating ErbB4 in PV Neurons Attenuates Synaptic and Cognitive Deficits in an Animal Model of Alzheimer's Disease)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
ERBB4	GO:0007165	signal transduction	10572067
ERBB4	GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	10353604\|18334220
ERBB4	GO:0016477	cell migration	9135143
ERBB4	GO:0018108	peptidyl-tyrosine phosphorylation	18334220
ERBB4	GO:0046777	protein autophosphorylation	18334220

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Gene structures and expression levels for ERBB4

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.

ENSG00000178568

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	UP	ENST00000260943.10	ERBB4-201:protein_coding:ERBB4	2.543319e+01	1.057989e+00	7.566594e-06	8.340917e-05
CB	UP	ENST00000436443.5	ERBB4-205:protein_coding:ERBB4	3.677227e+02	1.188346e+00	1.287043e-04	9.177526e-04
TC	DOWN	ENST00000260943.10	ERBB4-201:protein_coding:ERBB4	6.442537e+00	-9.419435e-01	3.011206e-03	2.286050e-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 ERBB4

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_12063	chr2	211657754:211657828:211657950:211657994:211665323:211665354	211657950:211657994
exon_skip_121577	chr2	211750699:211750704:211788025:211788159:211947430:211947616	211788025:211788159
exon_skip_161515	chr2	211788025:211788159:211947430:211947616:212124752:212124903	211947430:211947616
exon_skip_169145	chr2	211630462:211630594:211657950:211657994:211665323:211665354	211657950:211657994
exon_skip_187742	chr2	211386853:211387150:211387945:211387992:211420441:211420611	211387945:211387992
exon_skip_195477	chr2	211630462:211630594:211657754:211657828:211665323:211665354	211657754:211657828
exon_skip_224693	chr2	211673164:211673257:211679052:211679184:211701967:211702166	211679052:211679184
exon_skip_242730	chr2	211725152:211725194:211750639:211750704:211788025:211788159	211750639:211750704
exon_skip_30851	chr2	211657597:211657828:211657950:211657994:211665323:211665354	211657950:211657994

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 ERBB4

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
ENST00000342788	211679052	211679184	Frame-shift
ENST00000342788	211947430	211947616	Frame-shift
ENST00000342788	211387945	211387992	In-frame
ENST00000342788	211657754	211657828	In-frame
ENST00000342788	211750639	211750704	In-frame
ENST00000342788	211788025	211788159	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
ENST00000342788	211387945	211387992	In-frame
ENST00000342788	211657754	211657828	In-frame
ENST00000342788	211788025	211788159	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
ENST00000342788	211387945	211387992	In-frame
ENST00000342788	211657754	211657828	In-frame

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Infer the effects of exon skipping event on protein functional features for ERBB4

p-ENSG00000178568_img4.png
boxplot

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
ENST00000342788	12153	1308	211788025	211788159	733	866	140	185
ENST00000342788	12153	1308	211750639	211750704	868	932	185	207
ENST00000342788	12153	1308	211657754	211657828	2183	2256	624	648
ENST00000342788	12153	1308	211387945	211387992	3447	3493	1045	1060

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
ENST00000342788	12153	1308	211788025	211788159	733	866	140	185
ENST00000342788	12153	1308	211657754	211657828	2183	2256	624	648
ENST00000342788	12153	1308	211387945	211387992	3447	3493	1045	1060

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
ENST00000342788	12153	1308	211657754	211657828	2183	2256	624	648
ENST00000342788	12153	1308	211387945	211387992	3447	3493	1045	1060

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
Q15303	140	185	144	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2AHX
Q15303	140	185	176	178	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2AHX
Q15303	140	185	26	1308	Chain	ID=PRO_0000016674;Note=Receptor tyrosine-protein kinase erbB-4
Q15303	140	185	156	186	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16203964;Dbxref=PMID:16203964
Q15303	140	185	174	174	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16203964;Dbxref=PMID:16203964
Q15303	140	185	181	181	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15303	140	185	158	160	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2AHX
Q15303	140	185	163	165	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2AHX
Q15303	140	185	173	175	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2AHX
Q15303	140	185	140	140	Natural variant	ID=VAR_042113;Note=In a colorectal adenocarcinoma sample%3B somatic mutation. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=PMID:17344846
Q15303	140	185	26	651	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15303	185	207	197	201	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2AHX
Q15303	185	207	26	1308	Chain	ID=PRO_0000016674;Note=Receptor tyrosine-protein kinase erbB-4
Q15303	185	207	186	334	Compositional bias	Note=Cys-rich
Q15303	185	207	156	186	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16203964;Dbxref=PMID:16203964
Q15303	185	207	189	197	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16203964;Dbxref=PMID:16203964
Q15303	185	207	193	205	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16203964;Dbxref=PMID:16203964
Q15303	185	207	202	204	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2AHX
Q15303	185	207	26	651	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15303	185	207	191	193	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2AHX
Q15303	624	648	626	648	Alternative sequence	ID=VSP_002895;Note=In isoform JM-B CYT-1 and isoform JM-B CYT-2. NGPTSHDCIYYPWTGHSTLPQHA->IGSSIEDCIGLMD;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9334263;Dbxref=PMID:15489334,PMID:9334263
Q15303	624	648	625	629	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2AHX
Q15303	624	648	26	1308	Chain	ID=PRO_0000016674;Note=Receptor tyrosine-protein kinase erbB-4
Q15303	624	648	496	633	Compositional bias	Note=Cys-rich
Q15303	624	648	617	625	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16203964;Dbxref=PMID:16203964
Q15303	624	648	621	633	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16203964;Dbxref=PMID:16203964
Q15303	624	648	646	646	Mutagenesis	Note=Constitutively activated kinase. Q->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17120616;Dbxref=PMID:17120616
Q15303	624	648	26	651	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15303	1045	1060	1046	1061	Alternative sequence	ID=VSP_022148;Note=In isoform JM-A CYT-2 and isoform JM-B CYT-2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.4;Dbxref=PMID:15489334
Q15303	1045	1060	26	1308	Chain	ID=PRO_0000016674;Note=Receptor tyrosine-protein kinase erbB-4
Q15303	1045	1060	676	1308	Chain	ID=PRO_0000396797;Note=ERBB4 intracellular domain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q15303	1045	1060	1056	1056	Modified residue	Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17120616,ECO:0000269\|PubMed:18721752,ECO:0000269\|PubMed:8617750;Dbxref=PMID:17120616,PMID:18721752,PMID:8617750
Q15303	1045	1060	1053	1056	Motif	Note=PPxY motif 2
Q15303	1045	1060	1056	1056	Mutagenesis	Note=Abolishes interaction with NEDD4 and impairs ubiquitination. Promotes nuclear translocation of ERBB4 intracellular domain E4ICD1. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19561640;Dbxref=PMID:19561640
Q15303	1045	1060	1056	1056	Mutagenesis	Note=Abolishes interaction with WWP1%3B when associated with F-1301. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19561640;Dbxref=PMID:19561640
Q15303	1045	1060	676	1308	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

Lost protein functional features of individual exon skipping events in MSBB.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q15303	140	185	144	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2AHX
Q15303	140	185	176	178	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2AHX
Q15303	140	185	26	1308	Chain	ID=PRO_0000016674;Note=Receptor tyrosine-protein kinase erbB-4
Q15303	140	185	156	186	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16203964;Dbxref=PMID:16203964
Q15303	140	185	174	174	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16203964;Dbxref=PMID:16203964
Q15303	140	185	181	181	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15303	140	185	158	160	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2AHX
Q15303	140	185	163	165	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2AHX
Q15303	140	185	173	175	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2AHX
Q15303	140	185	140	140	Natural variant	ID=VAR_042113;Note=In a colorectal adenocarcinoma sample%3B somatic mutation. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=PMID:17344846
Q15303	140	185	26	651	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15303	624	648	626	648	Alternative sequence	ID=VSP_002895;Note=In isoform JM-B CYT-1 and isoform JM-B CYT-2. NGPTSHDCIYYPWTGHSTLPQHA->IGSSIEDCIGLMD;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9334263;Dbxref=PMID:15489334,PMID:9334263
Q15303	624	648	625	629	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2AHX
Q15303	624	648	26	1308	Chain	ID=PRO_0000016674;Note=Receptor tyrosine-protein kinase erbB-4
Q15303	624	648	496	633	Compositional bias	Note=Cys-rich
Q15303	624	648	617	625	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16203964;Dbxref=PMID:16203964
Q15303	624	648	621	633	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16203964;Dbxref=PMID:16203964
Q15303	624	648	646	646	Mutagenesis	Note=Constitutively activated kinase. Q->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17120616;Dbxref=PMID:17120616
Q15303	624	648	26	651	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15303	1045	1060	1046	1061	Alternative sequence	ID=VSP_022148;Note=In isoform JM-A CYT-2 and isoform JM-B CYT-2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.4;Dbxref=PMID:15489334
Q15303	1045	1060	26	1308	Chain	ID=PRO_0000016674;Note=Receptor tyrosine-protein kinase erbB-4
Q15303	1045	1060	676	1308	Chain	ID=PRO_0000396797;Note=ERBB4 intracellular domain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q15303	1045	1060	1056	1056	Modified residue	Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17120616,ECO:0000269\|PubMed:18721752,ECO:0000269\|PubMed:8617750;Dbxref=PMID:17120616,PMID:18721752,PMID:8617750
Q15303	1045	1060	1053	1056	Motif	Note=PPxY motif 2
Q15303	1045	1060	1056	1056	Mutagenesis	Note=Abolishes interaction with NEDD4 and impairs ubiquitination. Promotes nuclear translocation of ERBB4 intracellular domain E4ICD1. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19561640;Dbxref=PMID:19561640
Q15303	1045	1060	1056	1056	Mutagenesis	Note=Abolishes interaction with WWP1%3B when associated with F-1301. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19561640;Dbxref=PMID:19561640
Q15303	1045	1060	676	1308	Topological domain	Note=Cytoplasmic;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
Q15303	624	648	626	648	Alternative sequence	ID=VSP_002895;Note=In isoform JM-B CYT-1 and isoform JM-B CYT-2. NGPTSHDCIYYPWTGHSTLPQHA->IGSSIEDCIGLMD;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9334263;Dbxref=PMID:15489334,PMID:9334263
Q15303	624	648	625	629	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2AHX
Q15303	624	648	26	1308	Chain	ID=PRO_0000016674;Note=Receptor tyrosine-protein kinase erbB-4
Q15303	624	648	496	633	Compositional bias	Note=Cys-rich
Q15303	624	648	617	625	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16203964;Dbxref=PMID:16203964
Q15303	624	648	621	633	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16203964;Dbxref=PMID:16203964
Q15303	624	648	646	646	Mutagenesis	Note=Constitutively activated kinase. Q->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17120616;Dbxref=PMID:17120616
Q15303	624	648	26	651	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15303	1045	1060	1046	1061	Alternative sequence	ID=VSP_022148;Note=In isoform JM-A CYT-2 and isoform JM-B CYT-2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.4;Dbxref=PMID:15489334
Q15303	1045	1060	26	1308	Chain	ID=PRO_0000016674;Note=Receptor tyrosine-protein kinase erbB-4
Q15303	1045	1060	676	1308	Chain	ID=PRO_0000396797;Note=ERBB4 intracellular domain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q15303	1045	1060	1056	1056	Modified residue	Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17120616,ECO:0000269\|PubMed:18721752,ECO:0000269\|PubMed:8617750;Dbxref=PMID:17120616,PMID:18721752,PMID:8617750
Q15303	1045	1060	1053	1056	Motif	Note=PPxY motif 2
Q15303	1045	1060	1056	1056	Mutagenesis	Note=Abolishes interaction with NEDD4 and impairs ubiquitination. Promotes nuclear translocation of ERBB4 intracellular domain E4ICD1. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19561640;Dbxref=PMID:19561640
Q15303	1045	1060	1056	1056	Mutagenesis	Note=Abolishes interaction with WWP1%3B when associated with F-1301. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19561640;Dbxref=PMID:19561640
Q15303	1045	1060	676	1308	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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3'-UTR located exon skipping events that lost miRNA binding sites in ERBB4

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 ERBB4

- 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 ERBB4

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 ERBB4

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
HCC	exon_skip_169145	rs6719664	chr2:211660314	4.197559e-04	2.945197e-02
HCC	exon_skip_169145	rs10174084	chr2:211668083	4.197559e-04	2.945197e-02

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Correlation with RNA binding proteins (RBPs) for ERBB4

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
FL	RBM23	exon_skip_187742	-4.181157e-01	5.751521e-09
HCC	SRSF5	exon_skip_187742	4.675221e-01	2.630140e-15
IFG	NOVA1	exon_skip_187742	-5.083663e-01	5.742018e-03
PCC	NOVA1	exon_skip_187742	-4.003958e-01	1.245911e-08
PG	RBM23	exon_skip_187742	-4.267554e-01	2.031115e-08
PG	NOVA1	exon_skip_187742	-4.393104e-01	6.912085e-09

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RelatedDrugs for ERBB4

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Q15303	approved	DB08916	Afatinib	small molecule	Q15303
Q15303	approved\|investigational	DB12010	Fostamatinib	small molecule	Q15303
Q15303	approved\|investigational	DB12267	Brigatinib	small molecule	Q15303

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RelatedDiseases for ERBB4

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for ERBB4

Gene structures and expression levels for ERBB4

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ERBB4

Open reading frame (ORF) annotation in the exon skipping event for ERBB4

Infer the effects of exon skipping event on protein functional features for ERBB4

3'-UTR located exon skipping events that lost miRNA binding sites in ERBB4

SNVs in the skipped exons for ERBB4

AD stage-associated exon skippint events for ERBB4

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ERBB4

Correlation with RNA binding proteins (RBPs) for ERBB4

RelatedDrugs for ERBB4

RelatedDiseases for ERBB4