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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for ELMO2 |
 Gene summary |
| Gene information | Gene symbol | ELMO2 | Gene ID | 63916 |
| Gene name | engulfment and cell motility 2 | |
| Synonyms | CED-12|CED12|Ced-12A|ELMO-2|VMPI | |
| Cytomap | 20q13.12 | |
| Type of gene | protein-coding | |
| Description | engulfment and cell motility protein 2PH domain protein CED12Aced-12 homolog 2protein ced-12 homolog A | |
| 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 ELMO2 |
| 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. |
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ENSG00000062598
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| STG | UP | ENST00000452857.5 | ELMO2-207:protein_coding:ELMO2 | 9.416133e+00 | 6.385672e+00 | 2.620626e-04 | 1.926620e-02 |
| 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 ELMO2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_181413 | chr20 | 46386124:46386275:46387338:46387437:46389039:46389220 | 46387338:46387437 |
| exon_skip_18495 | chr20 | 46393093:46393143:46393529:46393601:46393981:46394089 | 46393529:46393601 |
| exon_skip_204511 | chr20 | 46394405:46394532:46398697:46398771:46406548:46406559 | 46398697:46398771 |
| exon_skip_251165 | chr20 | 46393093:46393143:46393529:46393601:46394049:46394089 | 46393529:46393601 |
| exon_skip_257756 | chr20 | 46386126:46386275:46387338:46387431:46389039:46389220 | 46387338:46387431 |
| exon_skip_276573 | chr20 | 46368891:46368968:46370443:46370513:46371352:46371459 | 46370443:46370513 |
| exon_skip_276595 | chr20 | 46374438:46374440:46374536:46374640:46375236:46375370 | 46374536:46374640 |
| exon_skip_294157 | chr20 | 46386126:46386275:46387338:46387437:46389039:46389220 | 46387338:46387437 |
| exon_skip_40403 | chr20 | 46386124:46386275:46387338:46387431:46389039:46389220 | 46387338:46387431 |
| exon_skip_40623 | chr20 | 46394405:46394503:46398697:46398771:46406548:46406559 | 46398697:46398771 |
| exon_skip_64477 | chr20 | 46383468:46383494:46386124:46386275:46389039:46389220 | 46386124:46386275 |
| exon_skip_67470 | chr20 | 46386124:46386275:46387338:46387437:46389039:46389082 | 46387338:46387437 |
| exon_skip_71581 | chr20 | 46386124:46386275:46387338:46387431:46389039:46389082 | 46387338:46387431 |
| exon_skip_82101 | chr20 | 46368891:46368968:46370443:46370525:46371352:46371459 | 46370443:46370525 |
| 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 ELMO2 |
| 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 |
| ENST00000290246 | 46398697 | 46398771 | 3UTR-3UTR |
| ENST00000290246 | 46387338 | 46387437 | Frame-shift |
| ENST00000396391 | 46387338 | 46387437 | Frame-shift |
| ENST00000290246 | 46393529 | 46393601 | Frame-shift |
| ENST00000396391 | 46393529 | 46393601 | Frame-shift |
| 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 |
| ENST00000290246 | 46398697 | 46398771 | 3UTR-3UTR |
| ENST00000290246 | 46387338 | 46387437 | Frame-shift |
| ENST00000396391 | 46387338 | 46387437 | Frame-shift |
| ENST00000290246 | 46393529 | 46393601 | Frame-shift |
| ENST00000396391 | 46393529 | 46393601 | Frame-shift |
| 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 |
| ENST00000290246 | 46398697 | 46398771 | 3UTR-3UTR |
| ENST00000290246 | 46370443 | 46370525 | Frame-shift |
| ENST00000396391 | 46370443 | 46370525 | Frame-shift |
| ENST00000290246 | 46387338 | 46387437 | Frame-shift |
| ENST00000396391 | 46387338 | 46387437 | Frame-shift |
| ENST00000290246 | 46393529 | 46393601 | Frame-shift |
| ENST00000396391 | 46393529 | 46393601 | Frame-shift |
| ENST00000290246 | 46374536 | 46374640 | In-frame |
| ENST00000396391 | 46374536 | 46374640 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ELMO2 |
p-ENSG00000062598_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 |
| 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 |
| ENST00000290246 | 3686 | 720 | 46374536 | 46374640 | 1261 | 1364 | 355 | 389 |
| ENST00000396391 | 3591 | 720 | 46374536 | 46374640 | 1172 | 1275 | 355 | 389 |
| 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 |
| 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 |
| Q96JJ3 | 355 | 389 | 1 | 720 | Chain | ID=PRO_0000153714;Note=Engulfment and cell motility protein 2 |
| Q96JJ3 | 355 | 389 | 1 | 720 | Chain | ID=PRO_0000153714;Note=Engulfment and cell motility protein 2 |
| Q96JJ3 | 355 | 389 | 311 | 485 | Domain | Note=ELMO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00664 |
| Q96JJ3 | 355 | 389 | 311 | 485 | Domain | Note=ELMO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00664 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ELMO2 |
| 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 |
| Mayo | ENST00000290246 | 46398697 | 46398771 | hsa-miR-4539 | chr20:46398717-46398724 | 8mer-1a | chr20:46398704-46398724 | 150.00 | -13.69 |
| Mayo | ENST00000290246 | 46398697 | 46398771 | hsa-miR-12113 | chr20:46398717-46398724 | 8mer-1a | chr20:46398704-46398724 | 150.00 | -13.69 |
| Mayo | ENST00000290246 | 46398697 | 46398771 | hsa-miR-4802-3p | chr20:46398744-46398751 | 8mer-1a | chr20:46398727-46398751 | 152.00 | -15.98 |
| MSBB | ENST00000290246 | 46398697 | 46398771 | hsa-miR-4539 | chr20:46398717-46398724 | 8mer-1a | chr20:46398704-46398724 | 150.00 | -13.69 |
| MSBB | ENST00000290246 | 46398697 | 46398771 | hsa-miR-12113 | chr20:46398717-46398724 | 8mer-1a | chr20:46398704-46398724 | 150.00 | -13.69 |
| MSBB | ENST00000290246 | 46398697 | 46398771 | hsa-miR-4802-3p | chr20:46398744-46398751 | 8mer-1a | chr20:46398727-46398751 | 152.00 | -15.98 |
| ROSMAP | ENST00000290246 | 46398697 | 46398771 | hsa-miR-4539 | chr20:46398717-46398724 | 8mer-1a | chr20:46398704-46398724 | 150.00 | -13.69 |
| ROSMAP | ENST00000290246 | 46398697 | 46398771 | hsa-miR-12113 | chr20:46398717-46398724 | 8mer-1a | chr20:46398704-46398724 | 150.00 | -13.69 |
| ROSMAP | ENST00000290246 | 46398697 | 46398771 | hsa-miR-4802-3p | chr20:46398744-46398751 | 8mer-1a | chr20:46398727-46398751 | 152.00 | -15.98 |
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SNVs in the skipped exons for ELMO2 |
| - 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 ELMO2 |
| 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 ELMO2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_294157 | rs2425867 | chr20:46327250 | 1.020535e-04 | 1.758980e-02 |
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Correlation with RNA binding proteins (RBPs) for ELMO2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PCBP4 | exon_skip_70831 | 4.250344e-01 | 8.635439e-07 |
| CB | RBM45 | exon_skip_70831 | 4.068900e-01 | 2.737468e-06 |
| CB | PCBP1 | exon_skip_40623 | -4.276871e-01 | 8.071565e-08 |
| CB | HNRNPA2B1 | exon_skip_40623 | -4.126075e-01 | 2.508085e-07 |
| CB | HNRNPAB | exon_skip_40623 | -4.046747e-01 | 4.455084e-07 |
| CB | HNRNPAB | exon_skip_204511 | -4.116621e-01 | 1.662645e-07 |
| HCC | SRSF2 | exon_skip_204511 | 4.416804e-01 | 2.284553e-14 |
| PCC | SFPQ | exon_skip_204511 | 4.230543e-01 | 1.753324e-10 |
| PCC | PCBP2 | exon_skip_204511 | 4.419148e-01 | 2.106989e-11 |
| PCC | HNRNPA0 | exon_skip_204511 | 4.094016e-01 | 7.505073e-10 |
| PCC | EWSR1 | exon_skip_204511 | 4.093164e-01 | 7.571968e-10 |
| PCC | SRSF1 | exon_skip_204511 | 4.324730e-01 | 6.186047e-11 |
| PCC | HNRNPH2 | exon_skip_204511 | 4.433482e-01 | 1.783946e-11 |
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RelatedDrugs for ELMO2 |
| 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 ELMO2 |
| 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)
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