|
||||||
|
 | |
| |
| |
| |
| 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 EMP2 |
 Gene summary |
| Gene information | Gene symbol | EMP2 | Gene ID | 2013 |
| Gene name | epithelial membrane protein 2 | |
| Synonyms | XMP | |
| Cytomap | 16p13.13 | |
| Type of gene | protein-coding | |
| Description | epithelial membrane protein 2 | |
| Modification date | 20180527 | |
| UniProtAcc | P54851 | |
| Context | PubMed: EMP2 [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 |
| EMP2 | GO:0001954 | positive regulation of cell-matrix adhesion | 16216233 |
| EMP2 | GO:0003093 | regulation of glomerular filtration | 24814193 |
| EMP2 | GO:0007015 | actin filament organization | 19494199 |
| EMP2 | GO:0007155 | cell adhesion | 19494199 |
| EMP2 | GO:0007160 | cell-matrix adhesion | 19494199 |
| EMP2 | GO:0008219 | cell death | 12107182 |
| EMP2 | GO:0008283 | cell proliferation | 21637765 |
| EMP2 | GO:0010594 | regulation of endothelial cell migration | 23334331 |
| EMP2 | GO:0016477 | cell migration | 21637765 |
| EMP2 | GO:0032060 | bleb assembly | 12107182 |
| EMP2 | GO:0032147 | activation of protein kinase activity | 21637765 |
| EMP2 | GO:0043534 | blood vessel endothelial cell migration | 23439602 |
| EMP2 | GO:0043549 | regulation of kinase activity | 18469192 |
| EMP2 | GO:0045765 | regulation of angiogenesis | 23334331 |
| EMP2 | GO:0070252 | actin-mediated cell contraction | 18469192|22728127 |
| EMP2 | GO:2001046 | positive regulation of integrin-mediated signaling pathway | 16216233 |
| EMP2 | GO:2001212 | regulation of vasculogenesis | 23334331 |
Top |
Exon skipping events across known transcript of Ensembl for EMP2 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 EMP2 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for EMP2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_141814 | 16 | 10626705:10626949:10631784:10631931:10637426:10637517 | 10631784:10631931 | ENSG00000213853.5 | ENST00000536829.1,ENST00000359543.3 |
| exon_skip_141815 | 16 | 10631784:10631931:10637426:10637517:10641396:10641534 | 10637426:10637517 | ENSG00000213853.5 | ENST00000536829.1,ENST00000359543.3 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for EMP2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_141814 | 16 | 10626705:10626949:10631784:10631931:10637426:10637517 | 10631784:10631931 | ENSG00000213853.5 | ENST00000359543.3,ENST00000536829.1 |
| exon_skip_141815 | 16 | 10631784:10631931:10637426:10637517:10641396:10641534 | 10637426:10637517 | ENSG00000213853.5 | ENST00000359543.3,ENST00000536829.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for EMP2 |
| 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 |
| ENST00000359543 | 10637426 | 10637517 | Frame-shift |
| ENST00000536829 | 10637426 | 10637517 | Frame-shift |
| ENST00000359543 | 10631784 | 10631931 | In-frame |
| ENST00000536829 | 10631784 | 10631931 | 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 |
| ENST00000359543 | 10637426 | 10637517 | Frame-shift |
| ENST00000536829 | 10637426 | 10637517 | Frame-shift |
| ENST00000359543 | 10631784 | 10631931 | In-frame |
| ENST00000536829 | 10631784 | 10631931 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for EMP2 |
| 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 |
| ENST00000359543 | 5214 | 167 | 10631784 | 10631931 | 380 | 526 | 56 | 105 |
| ENST00000536829 | 798 | 167 | 10631784 | 10631931 | 391 | 537 | 56 | 105 |
| 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 |
| ENST00000359543 | 5214 | 167 | 10631784 | 10631931 | 380 | 526 | 56 | 105 |
| ENST00000536829 | 798 | 167 | 10631784 | 10631931 | 391 | 537 | 56 | 105 |
| 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 |
| P54851 | 56 | 105 | 1 | 167 | Chain | ID=PRO_0000164658;Note=Epithelial membrane protein 2 |
| P54851 | 56 | 105 | 1 | 167 | Chain | ID=PRO_0000164658;Note=Epithelial membrane protein 2 |
| P54851 | 56 | 105 | 64 | 64 | Sequence conflict | Note=V->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P54851 | 56 | 105 | 64 | 64 | Sequence conflict | Note=V->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P54851 | 56 | 105 | 67 | 87 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P54851 | 56 | 105 | 67 | 87 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P54851 | 56 | 105 | 95 | 115 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P54851 | 56 | 105 | 95 | 115 | Transmembrane | Note=Helical;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 |
| P54851 | 56 | 105 | 1 | 167 | Chain | ID=PRO_0000164658;Note=Epithelial membrane protein 2 |
| P54851 | 56 | 105 | 1 | 167 | Chain | ID=PRO_0000164658;Note=Epithelial membrane protein 2 |
| P54851 | 56 | 105 | 64 | 64 | Sequence conflict | Note=V->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P54851 | 56 | 105 | 64 | 64 | Sequence conflict | Note=V->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P54851 | 56 | 105 | 67 | 87 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P54851 | 56 | 105 | 67 | 87 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P54851 | 56 | 105 | 95 | 115 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P54851 | 56 | 105 | 95 | 115 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Top |
SNVs in the skipped exons for EMP2 |
| - 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 |
| BLCA | TCGA-E5-A4U1-01 | exon_skip_141815 | 10637427 | 10637517 | 10637430 | 10637430 | Nonsense_Mutation | G | A | p.Q56* |
| LIHC | TCGA-DD-AADC-01 | exon_skip_141814 | 10631785 | 10631931 | 10631932 | 10631932 | Splice_Site | C | A | . |
| - 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 |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10631785 | 10631931 | 10631822 | 10631822 | Missense_Mutation | C | G | p.E93D |
| SNU175_LARGE_INTESTINE | 10631785 | 10631931 | 10631838 | 10631838 | Missense_Mutation | C | T | p.R88H |
| NCIH2227_LUNG | 10631785 | 10631931 | 10631869 | 10631869 | Missense_Mutation | C | G | p.A78P |
| ASPC1_PANCREAS | 10631785 | 10631931 | 10631869 | 10631869 | Missense_Mutation | C | T | p.A78T |
| SNU1040_LARGE_INTESTINE | 10631785 | 10631931 | 10631869 | 10631869 | Missense_Mutation | C | T | p.A78T |
| NCIH2405_LUNG | 10631785 | 10631931 | 10631905 | 10631905 | Missense_Mutation | C | T | p.A66T |
| MFE319_ENDOMETRIUM | 10637427 | 10637517 | 10637502 | 10637502 | Missense_Mutation | C | T | p.D32N |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EMP2 |
| 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 EMP2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EMP2 |
Top |
RelatedDrugs for EMP2 |
| 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 |
Top |
RelatedDiseases for EMP2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EMP2 | C4014507 | NEPHROTIC SYNDROME, TYPE 10 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|