|
||||||
|
 | |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| 3'-UTR located exon skipping events lost miRNA binding sites |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| |
| |
|
Gene summary for EVI5 |
 Gene summary |
| Gene information | Gene symbol | EVI5 | Gene ID | 7813 |
| Gene name | ecotropic viral integration site 5 | |
| Synonyms | EVI-5|NB4S | |
| Cytomap | 1p22.1 | |
| Type of gene | protein-coding | |
| Description | ecotropic viral integration site 5 protein homologdJ846D11.1 (ecotropic viral integration site 5)neuroblastoma stage 4S gene protein | |
| Modification date | 20200313 | |
| UniProtAcc | A0A1B0GUF4, O60447, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| EVI5 | GO:0043547 | positive regulation of GTPase activity | 17562788 |
Top |
Gene structures and expression levels for EVI5 |
| 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. |
 |
ENSG00000067208
| 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 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for EVI5 |
| 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_121196 | chr1 | 92662719:92662865:92663420:92663452:92665939:92665955 | 92663420:92663452 |
| exon_skip_262439 | chr1 | 92636202:92636336:92662719:92662865:92663420:92663452 | 92662719:92662865 |
| exon_skip_271209 | chr1 | 92636202:92636336:92663420:92663452:92665939:92665992 | 92663420:92663452 |
| exon_skip_277307 | chr1 | 92607616:92607727:92624176:92624334:92625794:92625934 | 92624176:92624334 |
| exon_skip_32902 | chr1 | 92677158:92677218:92693802:92693899:92694299:92694388 | 92693802:92693899 |
| exon_skip_34593 | chr1 | 92636202:92636336:92663420:92663452:92665939:92665990 | 92663420:92663452 |
| exon_skip_6386 | chr1 | 92624176:92624334:92625794:92625934:92636202:92636336 | 92625794:92625934 |
| exon_skip_91867 | chr1 | 92605307:92605402:92607581:92607727:92624176:92624334 | 92607581:92607727 |
| 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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for EVI5 |
| 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 |
| ENST00000370331 | 92693802 | 92693899 | Frame-shift |
| ENST00000370331 | 92607581 | 92607727 | In-frame |
| ENST00000370331 | 92624176 | 92624334 | In-frame |
| ENST00000370331 | 92625794 | 92625934 | 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 |
| ENST00000370331 | 92693802 | 92693899 | Frame-shift |
| ENST00000370331 | 92607581 | 92607727 | In-frame |
| ENST00000370331 | 92624176 | 92624334 | In-frame |
| ENST00000370331 | 92625794 | 92625934 | 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 |
| ENST00000370331 | 92607581 | 92607727 | In-frame |
| ENST00000370331 | 92624176 | 92624334 | In-frame |
| ENST00000370331 | 92625794 | 92625934 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for EVI5 |
p-ENSG00000067208_img4.png |
| 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 |
| ENST00000370331 | 7420 | 810 | 92625794 | 92625934 | 1490 | 1629 | 493 | 539 |
| ENST00000370331 | 7420 | 810 | 92624176 | 92624334 | 1631 | 1788 | 540 | 592 |
| ENST00000370331 | 7420 | 810 | 92607581 | 92607727 | 1790 | 1935 | 593 | 641 |
| 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 |
| ENST00000370331 | 7420 | 810 | 92625794 | 92625934 | 1490 | 1629 | 493 | 539 |
| ENST00000370331 | 7420 | 810 | 92624176 | 92624334 | 1631 | 1788 | 540 | 592 |
| ENST00000370331 | 7420 | 810 | 92607581 | 92607727 | 1790 | 1935 | 593 | 641 |
| 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 |
| ENST00000370331 | 7420 | 810 | 92625794 | 92625934 | 1490 | 1629 | 493 | 539 |
| ENST00000370331 | 7420 | 810 | 92624176 | 92624334 | 1631 | 1788 | 540 | 592 |
| ENST00000370331 | 7420 | 810 | 92607581 | 92607727 | 1790 | 1935 | 593 | 641 |
| 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 |
| O60447 | 493 | 539 | 1 | 810 | Chain | ID=PRO_0000256241;Note=Ecotropic viral integration site 5 protein homolog |
| O60447 | 493 | 539 | 406 | 716 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O60447 | 493 | 539 | 497 | 497 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| O60447 | 493 | 539 | 128 | 693 | Region | Note=Dimerization |
| O60447 | 493 | 539 | 377 | 810 | Region | Note=Targeting to the centrosomes |
| O60447 | 493 | 539 | 487 | 810 | Region | Note=Interaction with AURKB and INCENP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16764853;Dbxref=PMID:16764853 |
| O60447 | 540 | 592 | 1 | 810 | Chain | ID=PRO_0000256241;Note=Ecotropic viral integration site 5 protein homolog |
| O60447 | 540 | 592 | 406 | 716 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O60447 | 540 | 592 | 128 | 693 | Region | Note=Dimerization |
| O60447 | 540 | 592 | 377 | 810 | Region | Note=Targeting to the centrosomes |
| O60447 | 540 | 592 | 487 | 810 | Region | Note=Interaction with AURKB and INCENP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16764853;Dbxref=PMID:16764853 |
| O60447 | 593 | 641 | 1 | 810 | Chain | ID=PRO_0000256241;Note=Ecotropic viral integration site 5 protein homolog |
| O60447 | 593 | 641 | 406 | 716 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O60447 | 593 | 641 | 612 | 612 | Natural variant | ID=VAR_028891;Note=Q->H;Dbxref=dbSNP:rs11808092 |
| O60447 | 593 | 641 | 128 | 693 | Region | Note=Dimerization |
| O60447 | 593 | 641 | 377 | 810 | Region | Note=Targeting to the centrosomes |
| O60447 | 593 | 641 | 487 | 810 | Region | Note=Interaction with AURKB and INCENP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16764853;Dbxref=PMID:16764853 |
| O60447 | 593 | 641 | 594 | 594 | Site | Note=Breakpoint for translocation to form EVI5-TRNG10 fusion protein |
| 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 |
| O60447 | 493 | 539 | 1 | 810 | Chain | ID=PRO_0000256241;Note=Ecotropic viral integration site 5 protein homolog |
| O60447 | 493 | 539 | 406 | 716 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O60447 | 493 | 539 | 497 | 497 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| O60447 | 493 | 539 | 128 | 693 | Region | Note=Dimerization |
| O60447 | 493 | 539 | 377 | 810 | Region | Note=Targeting to the centrosomes |
| O60447 | 493 | 539 | 487 | 810 | Region | Note=Interaction with AURKB and INCENP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16764853;Dbxref=PMID:16764853 |
| O60447 | 540 | 592 | 1 | 810 | Chain | ID=PRO_0000256241;Note=Ecotropic viral integration site 5 protein homolog |
| O60447 | 540 | 592 | 406 | 716 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O60447 | 540 | 592 | 128 | 693 | Region | Note=Dimerization |
| O60447 | 540 | 592 | 377 | 810 | Region | Note=Targeting to the centrosomes |
| O60447 | 540 | 592 | 487 | 810 | Region | Note=Interaction with AURKB and INCENP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16764853;Dbxref=PMID:16764853 |
| O60447 | 593 | 641 | 1 | 810 | Chain | ID=PRO_0000256241;Note=Ecotropic viral integration site 5 protein homolog |
| O60447 | 593 | 641 | 406 | 716 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O60447 | 593 | 641 | 612 | 612 | Natural variant | ID=VAR_028891;Note=Q->H;Dbxref=dbSNP:rs11808092 |
| O60447 | 593 | 641 | 128 | 693 | Region | Note=Dimerization |
| O60447 | 593 | 641 | 377 | 810 | Region | Note=Targeting to the centrosomes |
| O60447 | 593 | 641 | 487 | 810 | Region | Note=Interaction with AURKB and INCENP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16764853;Dbxref=PMID:16764853 |
| O60447 | 593 | 641 | 594 | 594 | Site | Note=Breakpoint for translocation to form EVI5-TRNG10 fusion protein |
| 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 |
| O60447 | 493 | 539 | 1 | 810 | Chain | ID=PRO_0000256241;Note=Ecotropic viral integration site 5 protein homolog |
| O60447 | 493 | 539 | 406 | 716 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O60447 | 493 | 539 | 497 | 497 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| O60447 | 493 | 539 | 128 | 693 | Region | Note=Dimerization |
| O60447 | 493 | 539 | 377 | 810 | Region | Note=Targeting to the centrosomes |
| O60447 | 493 | 539 | 487 | 810 | Region | Note=Interaction with AURKB and INCENP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16764853;Dbxref=PMID:16764853 |
| O60447 | 540 | 592 | 1 | 810 | Chain | ID=PRO_0000256241;Note=Ecotropic viral integration site 5 protein homolog |
| O60447 | 540 | 592 | 406 | 716 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O60447 | 540 | 592 | 128 | 693 | Region | Note=Dimerization |
| O60447 | 540 | 592 | 377 | 810 | Region | Note=Targeting to the centrosomes |
| O60447 | 540 | 592 | 487 | 810 | Region | Note=Interaction with AURKB and INCENP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16764853;Dbxref=PMID:16764853 |
| O60447 | 593 | 641 | 1 | 810 | Chain | ID=PRO_0000256241;Note=Ecotropic viral integration site 5 protein homolog |
| O60447 | 593 | 641 | 406 | 716 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O60447 | 593 | 641 | 612 | 612 | Natural variant | ID=VAR_028891;Note=Q->H;Dbxref=dbSNP:rs11808092 |
| O60447 | 593 | 641 | 128 | 693 | Region | Note=Dimerization |
| O60447 | 593 | 641 | 377 | 810 | Region | Note=Targeting to the centrosomes |
| O60447 | 593 | 641 | 487 | 810 | Region | Note=Interaction with AURKB and INCENP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16764853;Dbxref=PMID:16764853 |
| O60447 | 593 | 641 | 594 | 594 | Site | Note=Breakpoint for translocation to form EVI5-TRNG10 fusion protein |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in EVI5 |
| 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 |
Top |
SNVs in the skipped exons for EVI5 |
| - 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 |
Top |
AD stage-associated exon skippint events for EVI5 |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EVI5 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_271209 | rs2107520 | chr1:92727375 | 7.266316e-05 | 6.986012e-03 |
| HCC | exon_skip_271209 | rs4847280 | chr1:92571348 | 1.262689e-04 | 1.113279e-02 |
| HCC | exon_skip_271209 | rs2391164 | chr1:92573954 | 1.262689e-04 | 1.113279e-02 |
| HCC | exon_skip_271209 | rs7553367 | chr1:92577057 | 1.262689e-04 | 1.113279e-02 |
| HCC | exon_skip_271209 | rs2027060 | chr1:92600426 | 1.262689e-04 | 1.113279e-02 |
| HCC | exon_skip_271209 | rs10747448 | chr1:92655773 | 1.262689e-04 | 1.113279e-02 |
| HCC | exon_skip_271209 | rs1999819 | chr1:92672571 | 1.262689e-04 | 1.113279e-02 |
| HCC | exon_skip_271209 | rs6604010 | chr1:92721867 | 1.262689e-04 | 1.113279e-02 |
| HCC | exon_skip_271209 | rs2107521 | chr1:92733857 | 1.262689e-04 | 1.113279e-02 |
| HCC | exon_skip_271209 | rs6604015 | chr1:92754350 | 1.262689e-04 | 1.113279e-02 |
| HCC | exon_skip_271209 | rs2095268 | chr1:92617491 | 3.362151e-04 | 2.476092e-02 |
| PCC | exon_skip_34593 | rs2107520 | chr1:92727375 | 1.510252e-04 | 2.399536e-02 |
Top |
Correlation with RNA binding proteins (RBPs) for EVI5 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| DLPFC | SRSF5 | exon_skip_262439 | 4.477246e-01 | 2.029026e-14 |
| DLPFC | NOVA1 | exon_skip_262439 | 4.844301e-01 | 6.108414e-17 |
| FL | FXR2 | exon_skip_262439 | 4.975472e-01 | 8.968346e-13 |
| FL | HNRNPK | exon_skip_262439 | 4.617285e-01 | 5.358463e-11 |
| FL | KHDRBS3 | exon_skip_262439 | 4.865194e-01 | 3.324532e-12 |
| FL | RBM24 | exon_skip_262439 | 4.376890e-01 | 6.467327e-10 |
| FL | SRSF9 | exon_skip_262439 | 4.372239e-01 | 6.773734e-10 |
| FL | EIF4B | exon_skip_262439 | 5.072552e-01 | 2.720394e-13 |
| IFG | KHDRBS3 | exon_skip_262439 | 6.083160e-01 | 5.939033e-04 |
| PCC | NOVA1 | exon_skip_262439 | 4.067129e-01 | 6.967663e-09 |
| PG | FXR2 | exon_skip_262439 | 4.830503e-01 | 1.291824e-10 |
| PG | PCBP1 | exon_skip_262439 | 4.055635e-01 | 1.247924e-07 |
| PG | KHDRBS2 | exon_skip_262439 | 5.086451e-01 | 8.898970e-12 |
| PG | RBM24 | exon_skip_262439 | 4.355333e-01 | 1.070138e-08 |
| STG | PABPN1L | exon_skip_262439 | -4.165121e-01 | 1.215684e-04 |
| STG | IGF2BP2 | exon_skip_262439 | -4.084864e-01 | 1.688247e-04 |
| STG | NOVA1 | exon_skip_262439 | 4.065482e-01 | 1.825337e-04 |
| TC | HNRNPK | exon_skip_262439 | 4.237348e-01 | 1.644516e-07 |
| TC | KHDRBS2 | exon_skip_262439 | 6.940653e-01 | 1.402308e-21 |
| TC | KHDRBS3 | exon_skip_262439 | 6.050700e-01 | 1.917115e-15 |
| TC | RBM24 | exon_skip_262439 | 5.418669e-01 | 3.952015e-12 |
| TC | SRSF5 | exon_skip_262439 | 4.074476e-01 | 5.318939e-07 |
| TC | NOVA1 | exon_skip_262439 | 6.794184e-01 | 2.019613e-20 |
Top |
RelatedDrugs for EVI5 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for EVI5 |
| 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)
|