|
||||||
|
 | |
| |
| |
| |
| 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 EVPL |
 Gene summary |
| Gene information | Gene symbol | EVPL | Gene ID | 2125 |
| Gene name | envoplakin | |
| Synonyms | EVPK | |
| Cytomap | 17q25.1 | |
| Type of gene | protein-coding | |
| Description | envoplakin210 kDa cornified envelope precursor protein210 kDa paraneoplastic pemphigus antigen | |
| Modification date | 20180523 | |
| UniProtAcc | Q92817 | |
| Context | PubMed: EVPL [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 |
| EVPL | GO:0018149 | peptide cross-linking | 10908733 |
| EVPL | GO:0030216 | keratinocyte differentiation | 10908733 |
Top |
Exon skipping events across known transcript of Ensembl for EVPL 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 EVPL |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for EVPL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_293552 | 17 | 74003162:74006624:74007656:74007749:74007852:74007963 | 74007656:74007749 | ENSG00000167880.3 | ENST00000586740.1,ENST00000587569.1,ENST00000301607.3 |
| exon_skip_293553 | 17 | 74008086:74008170:74010506:74010657:74010996:74011190 | 74010506:74010657 | ENSG00000167880.3 | ENST00000586740.1,ENST00000587569.1,ENST00000301607.3 |
| exon_skip_293555 | 17 | 74014241:74014339:74014526:74014681:74014994:74015141 | 74014526:74014681 | ENSG00000167880.3 | ENST00000586740.1,ENST00000301607.3 |
| exon_skip_293556 | 17 | 74014526:74014681:74014994:74015141:74015608:74015734 | 74014994:74015141 | ENSG00000167880.3 | ENST00000586740.1,ENST00000587569.1,ENST00000301607.3 |
| exon_skip_293559 | 17 | 74014994:74015141:74015608:74015734:74017548:74017644 | 74015608:74015734 | ENSG00000167880.3 | ENST00000586740.1,ENST00000587569.1,ENST00000301607.3 |
| exon_skip_293566 | 17 | 74017754:74017862:74017947:74018109:74018269:74018308 | 74017947:74018109 | ENSG00000167880.3 | ENST00000586740.1,ENST00000587569.1,ENST00000301607.3 |
| exon_skip_293567 | 17 | 74019580:74019735:74020101:74020201:74023181:74023312 | 74020101:74020201 | ENSG00000167880.3 | ENST00000586740.1,ENST00000587569.1,ENST00000301607.3 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for EVPL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_293552 | 17 | 74003162:74006624:74007656:74007749:74007852:74007963 | 74007656:74007749 | ENSG00000167880.3 | ENST00000301607.3,ENST00000586740.1,ENST00000587569.1 |
| exon_skip_293553 | 17 | 74008086:74008170:74010506:74010657:74010996:74011190 | 74010506:74010657 | ENSG00000167880.3 | ENST00000301607.3,ENST00000586740.1,ENST00000587569.1 |
| exon_skip_293555 | 17 | 74014241:74014339:74014526:74014681:74014994:74015141 | 74014526:74014681 | ENSG00000167880.3 | ENST00000301607.3,ENST00000586740.1 |
| exon_skip_293556 | 17 | 74014526:74014681:74014994:74015141:74015608:74015734 | 74014994:74015141 | ENSG00000167880.3 | ENST00000301607.3,ENST00000586740.1,ENST00000587569.1 |
| exon_skip_293559 | 17 | 74014994:74015141:74015608:74015734:74017548:74017644 | 74015608:74015734 | ENSG00000167880.3 | ENST00000301607.3,ENST00000586740.1,ENST00000587569.1 |
| exon_skip_293566 | 17 | 74017754:74017862:74017947:74018109:74018269:74018308 | 74017947:74018109 | ENSG00000167880.3 | ENST00000301607.3,ENST00000586740.1,ENST00000587569.1 |
| exon_skip_293567 | 17 | 74019580:74019735:74020101:74020201:74023181:74023312 | 74020101:74020201 | ENSG00000167880.3 | ENST00000301607.3,ENST00000586740.1,ENST00000587569.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for EVPL |
| 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 |
| ENST00000301607 | 74010506 | 74010657 | Frame-shift |
| ENST00000301607 | 74014526 | 74014681 | Frame-shift |
| ENST00000301607 | 74020101 | 74020201 | Frame-shift |
| ENST00000301607 | 74007656 | 74007749 | In-frame |
| ENST00000301607 | 74014994 | 74015141 | In-frame |
| ENST00000301607 | 74015608 | 74015734 | In-frame |
| ENST00000301607 | 74017947 | 74018109 | 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 |
| ENST00000301607 | 74010506 | 74010657 | Frame-shift |
| ENST00000301607 | 74014526 | 74014681 | Frame-shift |
| ENST00000301607 | 74020101 | 74020201 | Frame-shift |
| ENST00000301607 | 74007656 | 74007749 | In-frame |
| ENST00000301607 | 74014994 | 74015141 | In-frame |
| ENST00000301607 | 74015608 | 74015734 | In-frame |
| ENST00000301607 | 74017947 | 74018109 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for EVPL |
| 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 |
| ENST00000301607 | 6631 | 2033 | 74017947 | 74018109 | 900 | 1061 | 215 | 269 |
| ENST00000301607 | 6631 | 2033 | 74015608 | 74015734 | 1266 | 1391 | 337 | 379 |
| ENST00000301607 | 6631 | 2033 | 74014994 | 74015141 | 1392 | 1538 | 379 | 428 |
| ENST00000301607 | 6631 | 2033 | 74007656 | 74007749 | 2823 | 2915 | 856 | 887 |
| 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 |
| ENST00000301607 | 6631 | 2033 | 74017947 | 74018109 | 900 | 1061 | 215 | 269 |
| ENST00000301607 | 6631 | 2033 | 74015608 | 74015734 | 1266 | 1391 | 337 | 379 |
| ENST00000301607 | 6631 | 2033 | 74014994 | 74015141 | 1392 | 1538 | 379 | 428 |
| ENST00000301607 | 6631 | 2033 | 74007656 | 74007749 | 2823 | 2915 | 856 | 887 |
| 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 |
| Q92817 | 215 | 269 | 1 | 2033 | Chain | ID=PRO_0000078147;Note=Envoplakin |
| Q92817 | 215 | 269 | 1 | 841 | Region | Note=Globular 1 |
| Q92817 | 215 | 269 | 229 | 330 | Repeat | Note=Spectrin |
| Q92817 | 337 | 379 | 1 | 2033 | Chain | ID=PRO_0000078147;Note=Envoplakin |
| Q92817 | 337 | 379 | 1 | 841 | Region | Note=Globular 1 |
| Q92817 | 379 | 428 | 1 | 2033 | Chain | ID=PRO_0000078147;Note=Envoplakin |
| Q92817 | 379 | 428 | 413 | 470 | Domain | Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| Q92817 | 379 | 428 | 1 | 841 | Region | Note=Globular 1 |
| Q92817 | 856 | 887 | 1 | 2033 | Chain | ID=PRO_0000078147;Note=Envoplakin |
| Q92817 | 856 | 887 | 845 | 1135 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92817 | 856 | 887 | 842 | 1673 | Region | Note=Central fibrous rod domain |
| 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 |
| Q92817 | 215 | 269 | 1 | 2033 | Chain | ID=PRO_0000078147;Note=Envoplakin |
| Q92817 | 215 | 269 | 1 | 841 | Region | Note=Globular 1 |
| Q92817 | 215 | 269 | 229 | 330 | Repeat | Note=Spectrin |
| Q92817 | 337 | 379 | 1 | 2033 | Chain | ID=PRO_0000078147;Note=Envoplakin |
| Q92817 | 337 | 379 | 1 | 841 | Region | Note=Globular 1 |
| Q92817 | 379 | 428 | 1 | 2033 | Chain | ID=PRO_0000078147;Note=Envoplakin |
| Q92817 | 379 | 428 | 413 | 470 | Domain | Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| Q92817 | 379 | 428 | 1 | 841 | Region | Note=Globular 1 |
| Q92817 | 856 | 887 | 1 | 2033 | Chain | ID=PRO_0000078147;Note=Envoplakin |
| Q92817 | 856 | 887 | 845 | 1135 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92817 | 856 | 887 | 842 | 1673 | Region | Note=Central fibrous rod domain |
Top |
SNVs in the skipped exons for EVPL |
| - 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 |
| STAD | TCGA-CG-5721-01 | exon_skip_293553 | 74010507 | 74010657 | 74010507 | 74010509 | Frame_Shift_Del | CTT | - | p.791_791del |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_293559 | 74015609 | 74015734 | 74015643 | 74015643 | Frame_Shift_Del | G | - | p.P368fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_293559 | 74015609 | 74015734 | 74015643 | 74015643 | Frame_Shift_Del | G | - | p.P368fs |
| UCEC | TCGA-B5-A11V-01 | exon_skip_293559 | 74015609 | 74015734 | 74015649 | 74015649 | Frame_Shift_Del | C | - | p.G366fs |
| LIHC | TCGA-RC-A6M6-01 | exon_skip_293555 | 74014527 | 74014681 | 74014610 | 74014611 | Frame_Shift_Ins | - | CCCT | p.A452fs |
| LIHC | TCGA-RC-A6M6-01 | exon_skip_293555 | 74014527 | 74014681 | 74014610 | 74014611 | Frame_Shift_Ins | - | CCCT | p.G452fs |
| SKCM | TCGA-EE-A2GC-06 | exon_skip_293556 | 74014995 | 74015141 | 74015007 | 74015007 | Nonsense_Mutation | C | T | p.W424* |
| SKCM | TCGA-EE-A2GC-06 | exon_skip_293556 | 74014995 | 74015141 | 74015007 | 74015007 | Nonsense_Mutation | C | T | p.W424X |
| BLCA | TCGA-E5-A4U1-01 | exon_skip_293559 | 74015609 | 74015734 | 74015620 | 74015620 | Nonsense_Mutation | G | A | p.Q376* |
| SKCM | TCGA-EE-A3JD-06 | exon_skip_293552 | 74007657 | 74007749 | 74007750 | 74007750 | Splice_Site | C | T | . |
| THCA | TCGA-EL-A3D6-01 | exon_skip_293556 | 74014995 | 74015141 | 74015142 | 74015142 | Splice_Site | C | G | . |
| - 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 |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74015609 | 74015734 | 74015643 | 74015643 | Frame_Shift_Del | G | - | p.P368fs |
| LOVO_LARGE_INTESTINE | 74015609 | 74015734 | 74015643 | 74015643 | Frame_Shift_Del | G | - | p.P368fs |
| SKUT1_SOFT_TISSUE | 74015609 | 74015734 | 74015643 | 74015643 | Frame_Shift_Del | G | - | p.P368fs |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74015609 | 74015734 | 74015643 | 74015643 | Frame_Shift_Del | G | - | p.P368fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74015609 | 74015734 | 74015649 | 74015649 | Frame_Shift_Del | C | - | p.G366fs |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74007657 | 74007749 | 74007666 | 74007666 | Missense_Mutation | C | T | p.M884I |
| HKA1_SKIN | 74010507 | 74010657 | 74010604 | 74010604 | Missense_Mutation | T | C | p.K759R |
| HEC151_ENDOMETRIUM | 74014527 | 74014681 | 74014572 | 74014572 | Missense_Mutation | A | G | p.F465S |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74014527 | 74014681 | 74014590 | 74014590 | Missense_Mutation | C | T | p.R459H |
| SNU1214_UPPER_AERODIGESTIVE_TRACT | 74014995 | 74015141 | 74015008 | 74015008 | Missense_Mutation | C | A | p.W424L |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74014995 | 74015141 | 74015092 | 74015092 | Missense_Mutation | T | C | p.Q396R |
| SW684_SOFT_TISSUE | 74014995 | 74015141 | 74015135 | 74015135 | Missense_Mutation | C | T | p.E382K |
| DOTC24510_CERVIX | 74015609 | 74015734 | 74015656 | 74015656 | Missense_Mutation | G | A | p.P364S |
| MM386_SKIN | 74015609 | 74015734 | 74015685 | 74015685 | Missense_Mutation | G | A | p.S354F |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74015609 | 74015734 | 74015709 | 74015709 | Missense_Mutation | C | T | p.S346N |
| DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74017948 | 74018109 | 74017987 | 74017987 | Missense_Mutation | G | T | p.D256E |
| HEC59_ENDOMETRIUM | 74017948 | 74018109 | 74018009 | 74018009 | Missense_Mutation | A | G | p.I249T |
| GP2D_LARGE_INTESTINE | 74017948 | 74018109 | 74018034 | 74018034 | Missense_Mutation | C | T | p.A241T |
| GP5D_LARGE_INTESTINE | 74017948 | 74018109 | 74018034 | 74018034 | Missense_Mutation | C | T | p.A241T |
| JM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74017948 | 74018109 | 74018090 | 74018090 | Missense_Mutation | C | G | p.G222A |
| LOVO_LARGE_INTESTINE | 74017948 | 74018109 | 74018099 | 74018099 | Missense_Mutation | G | A | p.S219L |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74020102 | 74020201 | 74020152 | 74020152 | Missense_Mutation | C | T | p.A50T |
| OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74020102 | 74020201 | 74020162 | 74020162 | Missense_Mutation | C | T | p.M46I |
| MM386_SKIN | 74020102 | 74020201 | 74020179 | 74020179 | Missense_Mutation | G | A | p.L41F |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EVPL |
| 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 EVPL |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EVPL |
Top |
RelatedDrugs for EVPL |
| 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 EVPL |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|