|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
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-4ERBB4 transcript variant I12DELERBB4 transcript variant I20DELavian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4human epidermal growth factor receptor 4proto-oncogene-like protein c-ErbB-4tyrosin | |
| Modification date | 20180523 | |
| UniProtAcc | Q15303 | |
| Context | PubMed: ERBB4 [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 |
| 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 |
Top |
Exon skipping events across known transcript of Ensembl for ERBB4 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. |
 |
Top |
Gene isoform structures and expression levels for ERBB4 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for ERBB4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_346387 | 2 | 212251577:212251875:212252669:212252717:212285165:212285336 | 212252669:212252717 | ENSG00000178568.9 | ENST00000402597.1,ENST00000342788.4 |
| exon_skip_346390 | 2 | 212495186:212495319:212522478:212522553:212530047:212530079 | 212522478:212522553 | ENSG00000178568.9 | ENST00000484594.1,ENST00000342788.4,ENST00000436443.1 |
| exon_skip_346391 | 2 | 212495186:212495319:212522674:212522719:212530047:212530079 | 212522674:212522719 | ENSG00000178568.9 | ENST00000402597.1,ENST00000260943.6 |
| exon_skip_346392 | 2 | 212522478:212522553:212522674:212522719:212530047:212530079 | 212522674:212522719 | ENSG00000178568.9 | ENST00000463121.1 |
| exon_skip_346393 | 2 | 212587117:212587259:212589800:212589919:212615363:212615429 | 212589800:212589919 | ENSG00000178568.9 | ENST00000484594.1,ENST00000402597.1,ENST00000342788.4,ENST00000436443.1,ENST00000260943.6 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for ERBB4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_346387 | 2 | 212251577:212251875:212252669:212252717:212285165:212285336 | 212252669:212252717 | ENSG00000178568.9 | ENST00000342788.4,ENST00000402597.1 |
| exon_skip_346390 | 2 | 212495186:212495319:212522478:212522553:212530047:212530079 | 212522478:212522553 | ENSG00000178568.9 | ENST00000342788.4,ENST00000436443.1,ENST00000484594.1 |
| exon_skip_346391 | 2 | 212495186:212495319:212522674:212522719:212530047:212530079 | 212522674:212522719 | ENSG00000178568.9 | ENST00000402597.1,ENST00000260943.6 |
| exon_skip_346392 | 2 | 212522478:212522553:212522674:212522719:212530047:212530079 | 212522674:212522719 | ENSG00000178568.9 | ENST00000463121.1 |
| exon_skip_346393 | 2 | 212587117:212587259:212589800:212589919:212615363:212615429 | 212589800:212589919 | ENSG00000178568.9 | ENST00000342788.4,ENST00000436443.1,ENST00000402597.1,ENST00000484594.1,ENST00000260943.6 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ERBB4 |
| 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 |
| ENST00000342788 | 212589800 | 212589919 | Frame-shift |
| ENST00000342788 | 212252669 | 212252717 | In-frame |
| ENST00000342788 | 212522478 | 212522553 | 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 |
| ENST00000342788 | 212589800 | 212589919 | Frame-shift |
| ENST00000342788 | 212252669 | 212252717 | In-frame |
| ENST00000342788 | 212522478 | 212522553 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ERBB4 |
| 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 |
| ENST00000342788 | 12149 | 1308 | 212522478 | 212522553 | 2183 | 2257 | 624 | 648 |
| ENST00000342788 | 12149 | 1308 | 212252669 | 212252717 | 3447 | 3494 | 1045 | 1061 |
| 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 |
| ENST00000342788 | 12149 | 1308 | 212522478 | 212522553 | 2183 | 2257 | 624 | 648 |
| ENST00000342788 | 12149 | 1308 | 212252669 | 212252717 | 3447 | 3494 | 1045 | 1061 |
| 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 |
| 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 | 1061 | 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 | 1061 | 26 | 1308 | Chain | ID=PRO_0000016674;Note=Receptor tyrosine-protein kinase erbB-4 |
| Q15303 | 1045 | 1061 | 676 | 1308 | Chain | ID=PRO_0000396797;Note=ERBB4 intracellular domain;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q15303 | 1045 | 1061 | 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 | 1061 | 1053 | 1056 | Motif | Note=PPxY motif 2 |
| Q15303 | 1045 | 1061 | 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 | 1061 | 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 | 1061 | 676 | 1308 | 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 |
| 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 | 1061 | 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 | 1061 | 26 | 1308 | Chain | ID=PRO_0000016674;Note=Receptor tyrosine-protein kinase erbB-4 |
| Q15303 | 1045 | 1061 | 676 | 1308 | Chain | ID=PRO_0000396797;Note=ERBB4 intracellular domain;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q15303 | 1045 | 1061 | 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 | 1061 | 1053 | 1056 | Motif | Note=PPxY motif 2 |
| Q15303 | 1045 | 1061 | 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 | 1061 | 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 | 1061 | 676 | 1308 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Top |
SNVs in the skipped exons for ERBB4 |
| - 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. |
| - 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-A3A1-01 | exon_skip_346390 | 212522479 | 212522553 | 212522515 | 212522515 | Frame_Shift_Del | G | - | p.P637fs |
| SKCM | TCGA-D3-A1QB-06 | exon_skip_346390 | 212522479 | 212522553 | 212522512 | 212522512 | Nonsense_Mutation | C | T | p.W638* |
| SKCM | TCGA-D3-A1QB-06 | exon_skip_346390 | 212522479 | 212522553 | 212522512 | 212522512 | Nonsense_Mutation | C | T | p.W638X |
| LUAD | TCGA-91-6849-01 | exon_skip_346393 | 212589801 | 212589919 | 212589824 | 212589824 | Nonsense_Mutation | C | A | p.G240* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| KYSE220_OESOPHAGUS | 212252670 | 212252717 | 212252680 | 212252680 | Missense_Mutation | G | C | p.P1058R |
| CGTHW1_THYROID | 212252670 | 212252717 | 212252707 | 212252707 | Missense_Mutation | C | T | p.G1049E |
| HEC1_ENDOMETRIUM | 212522479 | 212522553 | 212522509 | 212522509 | Missense_Mutation | G | A | p.T639M |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 212522479 | 212522553 | 212522510 | 212522510 | Missense_Mutation | T | C | p.T639A |
| HEC108_ENDOMETRIUM | 212589801 | 212589919 | 212589847 | 212589847 | Missense_Mutation | C | T | p.R232Q |
| SNUC1_LARGE_INTESTINE | 212589801 | 212589919 | 212589862 | 212589862 | Missense_Mutation | C | T | p.S227N |
| SNU1040_LARGE_INTESTINE | 212589801 | 212589919 | 212589874 | 212589874 | Missense_Mutation | C | T | p.G223E |
| MDAMB415_BREAST | 212522479 | 212522553 | 212522511 | 212522511 | Nonsense_Mutation | C | T | p.W638* |
| GRM_SKIN | 212589801 | 212589919 | 212589867 | 212589867 | Nonsense_Mutation | G | T | p.Y225* |
| TGW_AUTONOMIC_GANGLIA | 212589801 | 212589919 | 212589876 | 212589876 | Nonsense_Mutation | G | C | p.Y222* |
| RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 212589801 | 212589919 | 212589802 | 212589802 | Splice_Site | A | C | p.F247C |
| COLO775_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 212589801 | 212589919 | 212589802 | 212589802 | Splice_Site | A | C | p.F247C |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ERBB4 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ERBB4 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ERBB4 |
Top |
RelatedDrugs for ERBB4 |
| 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 |
| Q15303 | DB08916 | Afatinib | Receptor tyrosine-protein kinase erbB-4 | small molecule | approved | |
| Q15303 | DB12010 | Fostamatinib | Receptor tyrosine-protein kinase erbB-4 | small molecule | approved|investigational | |
| Q15303 | DB12267 | Brigatinib | Receptor tyrosine-protein kinase erbB-4 | small molecule | approved|investigational |
Top |
RelatedDiseases for ERBB4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ERBB4 | C0005586 | Bipolar Disorder | 5 | PSYGENET |
| ERBB4 | C0036341 | Schizophrenia | 4 | PSYGENET |
| ERBB4 | C0016978 | gallbladder neoplasm | 1 | CTD_human |
| ERBB4 | C0025202 | melanoma | 1 | CTD_human |
| ERBB4 | C0037286 | Skin Neoplasms | 1 | CTD_human |
| ERBB4 | C3715155 | AMYOTROPHIC LATERAL SCLEROSIS 19 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|