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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 EVI5L |
Gene summary |
Gene information | Gene symbol | EVI5L | Gene ID | 115704 |
Gene name | ecotropic viral integration site 5 like | |
Synonyms | - | |
Cytomap | 19p13.2 | |
Type of gene | protein-coding | |
Description | EVI5-like proteinecotropic viral integration site 5-like protein | |
Modification date | 20180523 | |
UniProtAcc | Q96CN4 | |
Context | PubMed: EVI5L [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 |
EVI5L | GO:0043547 | positive regulation of GTPase activity | 17646400 |
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Exon skipping events across known transcript of Ensembl for EVI5L 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 EVI5L |
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 EVI5L |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_301369 | 19 | 7911428:7911565:7912617:7912807:7913806:7914031 | 7912617:7912807 | ENSG00000142459.4 | ENST00000270530.4,ENST00000538904.2 |
exon_skip_301371 | 19 | 7913806:7914031:7914141:7914216:7914882:7915008 | 7914141:7914216 | ENSG00000142459.4 | ENST00000597440.1,ENST00000270530.4,ENST00000538904.2 |
exon_skip_301372 | 19 | 7914906:7915008:7916319:7916463:7916566:7916608 | 7916319:7916463 | ENSG00000142459.4 | ENST00000599036.1,ENST00000597440.1,ENST00000270530.4,ENST00000538904.2 |
exon_skip_301375 | 19 | 7916374:7916463:7916566:7916656:7917971:7918069 | 7916566:7916656 | ENSG00000142459.4 | ENST00000599036.1,ENST00000601984.1,ENST00000270530.4,ENST00000538904.2 |
exon_skip_301377 | 19 | 7920902:7920954:7921977:7922010:7923076:7923217 | 7921977:7922010 | ENSG00000142459.4 | ENST00000538904.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EVI5L |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_301369 | 19 | 7911428:7911565:7912617:7912807:7913806:7914031 | 7912617:7912807 | ENSG00000142459.4 | ENST00000270530.4,ENST00000538904.2 |
exon_skip_301371 | 19 | 7913806:7914031:7914141:7914216:7914882:7915008 | 7914141:7914216 | ENSG00000142459.4 | ENST00000270530.4,ENST00000538904.2,ENST00000597440.1 |
exon_skip_301372 | 19 | 7914906:7915008:7916319:7916463:7916566:7916608 | 7916319:7916463 | ENSG00000142459.4 | ENST00000270530.4,ENST00000538904.2,ENST00000597440.1,ENST00000599036.1 |
exon_skip_301375 | 19 | 7916374:7916463:7916566:7916656:7917971:7918069 | 7916566:7916656 | ENSG00000142459.4 | ENST00000270530.4,ENST00000538904.2,ENST00000599036.1,ENST00000601984.1 |
exon_skip_301377 | 19 | 7920902:7920954:7921977:7922010:7923076:7923217 | 7921977:7922010 | ENSG00000142459.4 | ENST00000538904.2 |
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 EVI5L |
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 |
ENST00000270530 | 7912617 | 7912807 | Frame-shift |
ENST00000270530 | 7914141 | 7914216 | In-frame |
ENST00000270530 | 7916319 | 7916463 | In-frame |
ENST00000270530 | 7916566 | 7916656 | 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 |
ENST00000270530 | 7912617 | 7912807 | Frame-shift |
ENST00000270530 | 7914141 | 7914216 | In-frame |
ENST00000270530 | 7916319 | 7916463 | In-frame |
ENST00000270530 | 7916566 | 7916656 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EVI5L |
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 |
ENST00000270530 | 3872 | 794 | 7914141 | 7914216 | 749 | 823 | 184 | 209 |
ENST00000270530 | 3872 | 794 | 7916319 | 7916463 | 950 | 1093 | 251 | 299 |
ENST00000270530 | 3872 | 794 | 7916566 | 7916656 | 1094 | 1183 | 299 | 329 |
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 |
ENST00000270530 | 3872 | 794 | 7914141 | 7914216 | 749 | 823 | 184 | 209 |
ENST00000270530 | 3872 | 794 | 7916319 | 7916463 | 950 | 1093 | 251 | 299 |
ENST00000270530 | 3872 | 794 | 7916566 | 7916656 | 1094 | 1183 | 299 | 329 |
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 |
Q96CN4 | 184 | 209 | 1 | 794 | Chain | ID=PRO_0000263097;Note=EVI5-like protein |
Q96CN4 | 184 | 209 | 115 | 300 | Domain | Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 |
Q96CN4 | 184 | 209 | 197 | 197 | Site | Note=Glutamine finger;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q96CN4 | 251 | 299 | 1 | 794 | Chain | ID=PRO_0000263097;Note=EVI5-like protein |
Q96CN4 | 251 | 299 | 115 | 300 | Domain | Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 |
Q96CN4 | 299 | 329 | 1 | 794 | Chain | ID=PRO_0000263097;Note=EVI5-like protein |
Q96CN4 | 299 | 329 | 115 | 300 | Domain | Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 |
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 |
Q96CN4 | 184 | 209 | 1 | 794 | Chain | ID=PRO_0000263097;Note=EVI5-like protein |
Q96CN4 | 184 | 209 | 115 | 300 | Domain | Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 |
Q96CN4 | 184 | 209 | 197 | 197 | Site | Note=Glutamine finger;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q96CN4 | 251 | 299 | 1 | 794 | Chain | ID=PRO_0000263097;Note=EVI5-like protein |
Q96CN4 | 251 | 299 | 115 | 300 | Domain | Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 |
Q96CN4 | 299 | 329 | 1 | 794 | Chain | ID=PRO_0000263097;Note=EVI5-like protein |
Q96CN4 | 299 | 329 | 115 | 300 | Domain | Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 |
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SNVs in the skipped exons for EVI5L |
- 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 |
UCEC | TCGA-B5-A11Y-01 | exon_skip_301369 | 7912618 | 7912807 | 7912617 | 7912617 | Splice_Site | G | T | e2-1 |
LUSC | TCGA-39-5037-01 | exon_skip_301371 | 7914142 | 7914216 | 7914140 | 7914140 | Splice_Site | A | G | p.A185_splice |
- 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 |
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7912618 | 7912807 | 7912644 | 7912644 | Missense_Mutation | T | C | p.M55T |
GP2D_LARGE_INTESTINE | 7912618 | 7912807 | 7912646 | 7912646 | Missense_Mutation | C | T | p.R56C |
5637_URINARY_TRACT | 7912618 | 7912807 | 7912698 | 7912698 | Missense_Mutation | C | T | p.S73F |
FU97_STOMACH | 7912618 | 7912807 | 7912795 | 7912795 | Missense_Mutation | G | C | p.E105D |
HEC108_ENDOMETRIUM | 7912618 | 7912807 | 7912805 | 7912805 | Missense_Mutation | A | G | p.K109E |
SNUC4_LARGE_INTESTINE | 7914142 | 7914216 | 7914176 | 7914176 | Missense_Mutation | G | A | p.C196Y |
NCIH1417_LUNG | 7916320 | 7916463 | 7916351 | 7916351 | Missense_Mutation | G | T | p.R262L |
MFE319_ENDOMETRIUM | 7916567 | 7916656 | 7916597 | 7916597 | Missense_Mutation | G | A | p.A310T |
SNU1040_LARGE_INTESTINE | 7916567 | 7916656 | 7916619 | 7916619 | Missense_Mutation | C | T | p.A317V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EVI5L |
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 EVI5L |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EVI5L |
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RelatedDrugs for EVI5L |
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 EVI5L |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |