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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 ENC1 |
 Gene summary |
| Gene information | Gene symbol | ENC1 | Gene ID | 8507 |
| Gene name | ectodermal-neural cortex 1 | |
| Synonyms | CCL28|ENC-1|KLHL35|KLHL37|NRPB|PIG10|TP53I10 | |
| Cytomap | 5q13.3 | |
| Type of gene | protein-coding | |
| Description | ectoderm-neural cortex protein 1ectodermal-neural cortex 1 (with BTB domain)ectodermal-neural cortex 1 (with BTB-like domain)kelch-like 35kelch-like family member 37kelch-like protein 37nuclear matrix protein NRP/Bnuclear restricted protein, BTB do | |
| 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 |
| ENC1 | GO:0010499 | proteasomal ubiquitin-independent protein catabolic process | 19424503 |
| ENC1 | GO:0016567 | protein ubiquitination | 15983046 |
| ENC1 | GO:0017148 | negative regulation of translation | 19424503 |
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Gene structures and expression levels for ENC1 |
| 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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ENSG00000171617
| 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 |
| DLPFC | DOWN | ENST00000509284.1 | ENC1-204:lncRNA:ENC1 | 1.482804e+00 | -9.332289e-01 | 6.580036e-04 | 2.555823e-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 ENC1 |
| 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_142511 | chr5 | 74629929:74629992:74634684:74636498:74640307:74640429 | 74634684:74636498 |
| exon_skip_173526 | chr5 | 74636474:74636498:74637494:74637618:74640307:74640429 | 74637494:74637618 |
| exon_skip_208394 | chr5 | 74636476:74636498:74637494:74637618:74640307:74640429 | 74637494:74637618 |
| exon_skip_254640 | chr5 | 74629929:74629992:74634684:74636362:74640307:74640429 | 74634684:74636362 |
| exon_skip_34978 | chr5 | 74629976:74629992:74634684:74636498:74640307:74640429 | 74634684:74636498 |
| exon_skip_41156 | chr5 | 74629929:74629992:74634684:74636362:74640307:74641424 | 74634684:74636362 |
| exon_skip_43907 | chr5 | 74636474:74636498:74637565:74637701:74640307:74640429 | 74637565:74637701 |
| exon_skip_57346 | chr5 | 74636476:74636498:74637565:74637701:74640307:74640429 | 74637565:74637701 |
| exon_skip_94322 | chr5 | 74636474:74636498:74637494:74640125:74640307:74640582 | 74637494:74640125 |
| exon_skip_98624 | chr5 | 74629976:74629992:74634684:74636362:74640307:74640429 | 74634684:74636362 |
| 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 ENC1 |
| 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 |
| ENST00000618628 | 74637565 | 74637701 | 3UTR-3UTR |
| ENST00000537006 | 74634684 | 74636498 | 3UTR-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 |
| ENST00000618628 | 74637565 | 74637701 | 3UTR-3UTR |
| ENST00000537006 | 74634684 | 74636498 | 3UTR-5UTR |
| 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 |
| ENST00000618628 | 74637565 | 74637701 | 3UTR-3UTR |
| ENST00000537006 | 74634684 | 74636498 | 3UTR-5UTR |
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Infer the effects of exon skipping event on protein functional features for ENC1 |
p-ENSG00000171617_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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ENC1 |
| 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 | ENST00000618628 | 74637565 | 74637701 | hsa-miR-6739-3p | chr5:74637624-74637631 | 8mer-1a | chr5:74637606-74637631 | 143.00 | -10.13 |
| Mayo | ENST00000618628 | 74637565 | 74637701 | hsa-miR-4677-5p | chr5:74637623-74637630 | 8mer-1a | chr5:74637604-74637630 | 154.00 | -17.79 |
| Mayo | ENST00000618628 | 74637565 | 74637701 | hsa-miR-4310 | chr5:74637691-74637698 | 8mer-1a | chr5:74637675-74637698 | 147.00 | -15.90 |
| Mayo | ENST00000618628 | 74637565 | 74637701 | hsa-miR-5047 | chr5:74637617-74637624 | 8mer-1a | chr5:74637604-74637624 | 159.00 | -21.14 |
| Mayo | ENST00000618628 | 74637565 | 74637701 | hsa-miR-1301-3p | chr5:74637617-74637624 | 8mer-1a | chr5:74637604-74637624 | 159.00 | -21.14 |
| Mayo | ENST00000618628 | 74637565 | 74637701 | hsa-miR-7157-5p | chr5:74637691-74637698 | 8mer-1a | chr5:74637675-74637698 | 147.00 | -15.90 |
| MSBB | ENST00000618628 | 74637565 | 74637701 | hsa-miR-6739-3p | chr5:74637624-74637631 | 8mer-1a | chr5:74637606-74637631 | 143.00 | -10.13 |
| MSBB | ENST00000618628 | 74637565 | 74637701 | hsa-miR-4677-5p | chr5:74637623-74637630 | 8mer-1a | chr5:74637604-74637630 | 154.00 | -17.79 |
| MSBB | ENST00000618628 | 74637565 | 74637701 | hsa-miR-4310 | chr5:74637691-74637698 | 8mer-1a | chr5:74637675-74637698 | 147.00 | -15.90 |
| MSBB | ENST00000618628 | 74637565 | 74637701 | hsa-miR-5047 | chr5:74637617-74637624 | 8mer-1a | chr5:74637604-74637624 | 159.00 | -21.14 |
| MSBB | ENST00000618628 | 74637565 | 74637701 | hsa-miR-1301-3p | chr5:74637617-74637624 | 8mer-1a | chr5:74637604-74637624 | 159.00 | -21.14 |
| MSBB | ENST00000618628 | 74637565 | 74637701 | hsa-miR-7157-5p | chr5:74637691-74637698 | 8mer-1a | chr5:74637675-74637698 | 147.00 | -15.90 |
| ROSMAP | ENST00000618628 | 74637565 | 74637701 | hsa-miR-6739-3p | chr5:74637624-74637631 | 8mer-1a | chr5:74637606-74637631 | 143.00 | -10.13 |
| ROSMAP | ENST00000618628 | 74637565 | 74637701 | hsa-miR-4677-5p | chr5:74637623-74637630 | 8mer-1a | chr5:74637604-74637630 | 154.00 | -17.79 |
| ROSMAP | ENST00000618628 | 74637565 | 74637701 | hsa-miR-4310 | chr5:74637691-74637698 | 8mer-1a | chr5:74637675-74637698 | 147.00 | -15.90 |
| ROSMAP | ENST00000618628 | 74637565 | 74637701 | hsa-miR-5047 | chr5:74637617-74637624 | 8mer-1a | chr5:74637604-74637624 | 159.00 | -21.14 |
| ROSMAP | ENST00000618628 | 74637565 | 74637701 | hsa-miR-1301-3p | chr5:74637617-74637624 | 8mer-1a | chr5:74637604-74637624 | 159.00 | -21.14 |
| ROSMAP | ENST00000618628 | 74637565 | 74637701 | hsa-miR-7157-5p | chr5:74637691-74637698 | 8mer-1a | chr5:74637675-74637698 | 147.00 | -15.90 |
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SNVs in the skipped exons for ENC1 |
| - 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 ENC1 |
| 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 ENC1 |
| 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 ENC1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ENC1 |
| 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 ENC1 |
| 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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