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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 ECT2L |
Gene summary |
Gene information | Gene symbol | ECT2L | Gene ID | 345930 |
Gene name | epithelial cell transforming 2 like | |
Synonyms | ARHGEF32|C6orf91|FBXO49|LFDH|dJ509I19.2|dJ509I19.3|dJ509I19.5 | |
Cytomap | 6q24.1 | |
Type of gene | protein-coding | |
Description | epithelial cell-transforming sequence 2 oncogene-likeECT2-likeF-box protein 49lung specific F-box and DH domain containing proteinputative guanine nucleotide exchange factor LFDH | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for ECT2L |
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. |
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. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ECT2L |
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_130128 | chr6 | 138868103:138868206:138876472:138876558:138880957:138881171 | 138876472:138876558 |
exon_skip_268639 | chr6 | 138854026:138854154:138862627:138862719:138864996:138865178 | 138862627:138862719 |
exon_skip_60127 | chr6 | 138796120:138796192:138812838:138812977:138813172:138813340 | 138812838:138812977 |
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 |
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Open reading frame (ORF) annotation in the exon skipping event for ECT2L |
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 |
ENST00000541398 | 138812838 | 138812977 | 5UTR-5UTR |
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 |
ENST00000367682 | 138876472 | 138876558 | In-frame |
ENST00000423192 | 138876472 | 138876558 | In-frame |
ENST00000541398 | 138876472 | 138876558 | 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 |
ENST00000367682 | 138862627 | 138862719 | In-frame |
ENST00000423192 | 138862627 | 138862719 | In-frame |
ENST00000541398 | 138862627 | 138862719 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ECT2L |
p-ENSG00000203734_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 |
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 |
ENST00000367682 | 4360 | 904 | 138876472 | 138876558 | 1765 | 1850 | 526 | 555 |
ENST00000423192 | 4336 | 904 | 138876472 | 138876558 | 1741 | 1826 | 526 | 555 |
ENST00000541398 | 4500 | 904 | 138876472 | 138876558 | 1905 | 1990 | 526 | 555 |
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 |
ENST00000367682 | 4360 | 904 | 138862627 | 138862719 | 1385 | 1476 | 400 | 430 |
ENST00000423192 | 4336 | 904 | 138862627 | 138862719 | 1361 | 1452 | 400 | 430 |
ENST00000541398 | 4500 | 904 | 138862627 | 138862719 | 1525 | 1616 | 400 | 430 |
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 |
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 |
Q008S8 | 526 | 555 | 1 | 904 | Chain | ID=PRO_0000336075;Note=Epithelial cell-transforming sequence 2 oncogene-like |
Q008S8 | 526 | 555 | 1 | 904 | Chain | ID=PRO_0000336075;Note=Epithelial cell-transforming sequence 2 oncogene-like |
Q008S8 | 526 | 555 | 1 | 904 | Chain | ID=PRO_0000336075;Note=Epithelial cell-transforming sequence 2 oncogene-like |
Q008S8 | 526 | 555 | 527 | 527 | Natural variant | ID=VAR_043482;Note=E->K;Dbxref=dbSNP:rs1529151 |
Q008S8 | 526 | 555 | 527 | 527 | Natural variant | ID=VAR_043482;Note=E->K;Dbxref=dbSNP:rs1529151 |
Q008S8 | 526 | 555 | 527 | 527 | Natural variant | ID=VAR_043482;Note=E->K;Dbxref=dbSNP:rs1529151 |
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 |
Q008S8 | 400 | 430 | 1 | 904 | Chain | ID=PRO_0000336075;Note=Epithelial cell-transforming sequence 2 oncogene-like |
Q008S8 | 400 | 430 | 1 | 904 | Chain | ID=PRO_0000336075;Note=Epithelial cell-transforming sequence 2 oncogene-like |
Q008S8 | 400 | 430 | 1 | 904 | Chain | ID=PRO_0000336075;Note=Epithelial cell-transforming sequence 2 oncogene-like |
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3'-UTR located exon skipping events that lost miRNA binding sites in ECT2L |
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 |
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SNVs in the skipped exons for ECT2L |
- 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 |
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AD stage-associated exon skippint events for ECT2L |
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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ECT2L |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ECT2L |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ECT2L |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ECT2L |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |