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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 ENAH |
 Gene summary |
| Gene information | Gene symbol | ENAH | Gene ID | 55740 |
| Gene name | ENAH actin regulator | |
| Synonyms | ENA|MENA|NDPP1 | |
| Cytomap | 1q42.12 | |
| Type of gene | protein-coding | |
| Description | protein enabled homologenabled homologmammalian enabled variant 11amammalian enabled variant pan | |
| 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 ENAH |
| 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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ENSG00000154380
| 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 |
| PG | UP | ENST00000483952.1 | ENAH-206:lncRNA:ENAH | 1.539225e+01 | 1.114556e+00 | 3.542802e-04 | 6.908790e-03 |
| TC | UP | ENST00000366843.6 | ENAH-203:protein_coding:ENAH | 2.999509e+02 | 1.300847e+00 | 2.869653e-05 | 5.951124e-04 |
| 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 ENAH |
| 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_111293 | chr1 | 225514596:225514900:225517196:225517990:225519198:225519298 | 225517196:225517990 |
| exon_skip_126813 | chr1 | 225514596:225514900:225517196:225517990:225519198:225519565 | 225517196:225517990 |
| exon_skip_144405 | chr1 | 225530554:225530638:225535507:225535563:225554906:225555083 | 225535507:225535563 |
| exon_skip_214549 | chr1 | 225530554:225530638:225535507:225535563:225554906:225555055 | 225535507:225535563 |
| exon_skip_229914 | chr1 | 225500992:225501070:225504991:225505053:225507951:225508017 | 225504991:225505053 |
| exon_skip_247972 | chr1 | 225530554:225530638:225531046:225531057:225554906:225555055 | 225531046:225531057 |
| exon_skip_252236 | chr1 | 225514596:225514900:225517196:225517306:225519198:225519565 | 225517196:225517306 |
| exon_skip_36653 | chr1 | 225530554:225530638:225531046:225531057:225554906:225555083 | 225531046:225531057 |
| exon_skip_38617 | chr1 | 225497634:225497812:225498347:225498404:225500992:225501070 | 225498347:225498404 |
| exon_skip_40793 | chr1 | 225514596:225514900:225517196:225517306:225519198:225519298 | 225517196:225517306 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_111293 | ROSMAP_PCC | 7.874074e-01 | 8.896154e-01 | -1.022080e-01 | 2.205437e-03 |
| exon_skip_126813 | ROSMAP_HCC | 6.958904e-01 | 7.998718e-01 | -1.039814e-01 | 2.473230e-04 |
| exon_skip_111293 | Mayo_TC | 6.683099e-01 | 8.704918e-01 | -2.021819e-01 | 8.091598e-07 |
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Open reading frame (ORF) annotation in the exon skipping event for ENAH |
| 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 |
| ENST00000366844 | 225504991 | 225505053 | In-frame |
| ENST00000366844 | 225517196 | 225517306 | 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 |
| ENST00000366844 | 225504991 | 225505053 | In-frame |
| ENST00000366844 | 225517196 | 225517306 | 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 |
| ENST00000366844 | 225498347 | 225498404 | Frame-shift |
| ENST00000366844 | 225504991 | 225505053 | In-frame |
| ENST00000366844 | 225517196 | 225517306 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ENAH |
p-ENSG00000154380_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 |
| ENST00000366844 | 13185 | 591 | 225517196 | 225517306 | 1255 | 1364 | 267 | 304 |
| ENST00000366844 | 13185 | 591 | 225504991 | 225505053 | 1991 | 2052 | 513 | 533 |
| 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 |
| ENST00000366844 | 13185 | 591 | 225517196 | 225517306 | 1255 | 1364 | 267 | 304 |
| ENST00000366844 | 13185 | 591 | 225504991 | 225505053 | 1991 | 2052 | 513 | 533 |
| 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 |
| ENST00000366844 | 13185 | 591 | 225517196 | 225517306 | 1255 | 1364 | 267 | 304 |
| ENST00000366844 | 13185 | 591 | 225504991 | 225505053 | 1991 | 2052 | 513 | 533 |
| 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 |
| Q8N8S7 | 267 | 304 | 268 | 304 | Alternative sequence | ID=VSP_053772;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:23129656;Dbxref=PMID:23129656 |
| Q8N8S7 | 267 | 304 | 1 | 591 | Chain | ID=PRO_0000086971;Note=Protein enabled homolog |
| Q8N8S7 | 513 | 533 | 513 | 533 | Alternative sequence | ID=VSP_053773;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:23129656;Dbxref=PMID:23129656 |
| Q8N8S7 | 513 | 533 | 514 | 534 | Alternative sequence | ID=VSP_010564;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:0000303|Ref.1;Dbxref=PMID:14702039,PMID:15489334,PMID:1 |
| Q8N8S7 | 513 | 533 | 1 | 591 | Chain | ID=PRO_0000086971;Note=Protein enabled homolog |
| Q8N8S7 | 513 | 533 | 391 | 588 | Region | Note=EVH2 |
| 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 |
| Q8N8S7 | 267 | 304 | 268 | 304 | Alternative sequence | ID=VSP_053772;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:23129656;Dbxref=PMID:23129656 |
| Q8N8S7 | 267 | 304 | 1 | 591 | Chain | ID=PRO_0000086971;Note=Protein enabled homolog |
| Q8N8S7 | 513 | 533 | 513 | 533 | Alternative sequence | ID=VSP_053773;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:23129656;Dbxref=PMID:23129656 |
| Q8N8S7 | 513 | 533 | 514 | 534 | Alternative sequence | ID=VSP_010564;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:0000303|Ref.1;Dbxref=PMID:14702039,PMID:15489334,PMID:1 |
| Q8N8S7 | 513 | 533 | 1 | 591 | Chain | ID=PRO_0000086971;Note=Protein enabled homolog |
| Q8N8S7 | 513 | 533 | 391 | 588 | Region | Note=EVH2 |
| 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 |
| Q8N8S7 | 267 | 304 | 268 | 304 | Alternative sequence | ID=VSP_053772;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:23129656;Dbxref=PMID:23129656 |
| Q8N8S7 | 267 | 304 | 1 | 591 | Chain | ID=PRO_0000086971;Note=Protein enabled homolog |
| Q8N8S7 | 513 | 533 | 513 | 533 | Alternative sequence | ID=VSP_053773;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:23129656;Dbxref=PMID:23129656 |
| Q8N8S7 | 513 | 533 | 514 | 534 | Alternative sequence | ID=VSP_010564;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:0000303|Ref.1;Dbxref=PMID:14702039,PMID:15489334,PMID:1 |
| Q8N8S7 | 513 | 533 | 1 | 591 | Chain | ID=PRO_0000086971;Note=Protein enabled homolog |
| Q8N8S7 | 513 | 533 | 391 | 588 | Region | Note=EVH2 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ENAH |
| 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 ENAH |
| - 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 ENAH |
| 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 |
| ADstage | MSBB | IFG | exon_skip_229914 | -3.809953e-01 | 4.546895e-02 | chr1 | - | 225500992 | 225501070 | 225504991 | 225505053 | 225507951 | 225508017 |
| ADstage | ROSMAP | PCC | exon_skip_229914 | -3.409066e-01 | 2.990000e-07 | chr1 | - | 225500992 | 225501070 | 225504991 | 225505053 | 225507951 | 225508017 |
| ADstage | ROSMAP | PCC | exon_skip_36653 | -3.038830e-01 | 5.690000e-06 | chr1 | - | 225530554 | 225530638 | 225531046 | 225531057 | 225554906 | 225555083 |
| CDR | MSBB | IFG | exon_skip_229914 | -4.238052e-01 | 2.461174e-02 | chr1 | - | 225500992 | 225501070 | 225504991 | 225505053 | 225507951 | 225508017 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ENAH |
| 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 ENAH |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | HNRNPA0 | exon_skip_36653 | 4.653381e-01 | 1.356819e-09 |
| CB | RALYL | exon_skip_36653 | 4.594990e-01 | 2.306416e-09 |
| FL | MSI1 | exon_skip_36653 | -4.517023e-01 | 9.719800e-11 |
| FL | HNRNPA0 | exon_skip_36653 | 4.768018e-01 | 5.997023e-12 |
| FL | RALYL | exon_skip_36653 | 5.152856e-01 | 5.258422e-14 |
| HCC | RBMS2 | exon_skip_36653 | -5.028448e-01 | 7.756209e-19 |
| HCC | RBMS3 | exon_skip_36653 | -4.330438e-01 | 7.359941e-14 |
| HCC | MSI1 | exon_skip_36653 | -5.676273e-01 | 1.340119e-24 |
| HCC | TRNAU1AP | exon_skip_36653 | -4.235028e-01 | 2.903824e-13 |
| HCC | ZFP36 | exon_skip_36653 | -4.307171e-01 | 1.032691e-13 |
| IFG | PABPN1L | exon_skip_229914 | -4.280648e-01 | 2.305795e-02 |
| IFG | ELAVL1 | exon_skip_229914 | -4.387669e-01 | 1.950483e-02 |
| IFG | RBM5 | exon_skip_229914 | -5.044029e-01 | 6.198340e-03 |
| IFG | IGF2BP3 | exon_skip_229914 | -5.092277e-01 | 5.646702e-03 |
| IFG | FUBP1 | exon_skip_229914 | -5.054341e-01 | 6.076752e-03 |
| IFG | HNRNPA0 | exon_skip_36653 | 5.093589e-01 | 5.632305e-03 |
| PCC | RALYL | exon_skip_229914 | 4.127336e-01 | 2.982591e-10 |
| PCC | RBMS2 | exon_skip_36653 | -6.530561e-01 | 1.602691e-27 |
| PCC | MSI1 | exon_skip_36653 | -4.698778e-01 | 3.310488e-13 |
| PCC | ZFP36 | exon_skip_36653 | -4.425184e-01 | 1.007748e-11 |
| PCC | RALYL | exon_skip_36653 | 5.016062e-01 | 4.224449e-15 |
| PG | RALYL | exon_skip_229914 | 4.710366e-01 | 6.957347e-13 |
| PG | CELF1 | exon_skip_229914 | 4.018797e-01 | 1.780605e-09 |
| PG | NOVA1 | exon_skip_229914 | 4.042814e-01 | 1.395434e-09 |
| PG | HNRNPA0 | exon_skip_36653 | 4.384116e-01 | 4.334519e-10 |
| PG | RALYL | exon_skip_36653 | 5.908581e-01 | 8.513497e-19 |
| STG | RALYL | exon_skip_229914 | 4.764414e-01 | 2.363337e-06 |
| STG | ZFP36 | exon_skip_36653 | -4.380735e-01 | 2.752816e-05 |
| TC | SRSF2 | exon_skip_111293 | 4.166808e-01 | 6.705789e-07 |
| TC | RBM3 | exon_skip_111293 | 4.727413e-01 | 1.043521e-08 |
| TC | KHDRBS2 | exon_skip_111293 | 4.775945e-01 | 7.017182e-09 |
| TC | RBM24 | exon_skip_111293 | 4.062122e-01 | 1.347118e-06 |
| TC | RBM45 | exon_skip_111293 | 4.240739e-01 | 4.038691e-07 |
| TC | RALYL | exon_skip_111293 | 4.407091e-01 | 1.233581e-07 |
| TC | SRSF5 | exon_skip_111293 | 4.063192e-01 | 1.337714e-06 |
| TC | NOVA1 | exon_skip_111293 | 5.443867e-01 | 1.508840e-11 |
| TC | HNRNPA0 | exon_skip_247972 | 6.419467e-01 | 7.630744e-20 |
| TC | HNRNPD | exon_skip_247972 | 5.566959e-01 | 2.546139e-14 |
| TC | RALYL | exon_skip_247972 | 7.253394e-01 | 3.023415e-27 |
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RelatedDrugs for ENAH |
| 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 ENAH |
| 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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