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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 ERC2 |
 Gene summary |
| Gene information | Gene symbol | ERC2 | Gene ID | 26059 |
| Gene name | ELKS/RAB6-interacting/CAST family member 2 | |
| Synonyms | CAST|CAST1|ELKSL|SPBC110|Spc110 | |
| Cytomap | 3p14.3 | |
| Type of gene | protein-coding | |
| Description | ERC protein 2CAZ-associated structural proteincytomatrix protein p110 | |
| Modification date | 20200313 | |
| UniProtAcc | H7C4G9, O15083, | |
| 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 ERC2 |
| 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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ENSG00000187672
| 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 |
| CB | UP | ENST00000473469.5 | ERC2-207:lncRNA:ERC2 | 5.301113e+00 | 1.270439e+00 | 7.073365e-07 | 1.116773e-05 |
| CB | DOWN | ENST00000566635.5 | HERC2-208:retained_intron:HERC2 | 1.226179e+02 | -1.362780e+00 | 1.029626e-04 | 7.592261e-04 |
| CB | UP | ENST00000484857.2 | ERC2-210:retained_intron:ERC2 | 1.182195e+00 | 1.677162e+00 | 1.011011e-02 | 3.507620e-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 ERC2 |
| 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_101490 | chr3 | 55950496:55950560:55985977:55985988:55992057:55992250 | 55985977:55985988 |
| exon_skip_1160 | chr3 | 55888389:55888549:55950425:55950560:55985977:55985988 | 55950425:55950560 |
| exon_skip_163769 | chr3 | 55511230:55511276:55606780:55606966:55683794:55683859 | 55606780:55606966 |
| exon_skip_185605 | chr3 | 55950543:55950560:55985977:55985988:55992057:55992250 | 55985977:55985988 |
| exon_skip_226303 | chr3 | 55950425:55950560:55985977:55985988:55992057:55992250 | 55985977:55985988 |
| exon_skip_254692 | chr3 | 55888389:55888549:55950425:55950560:55992057:55992250 | 55950425:55950560 |
| exon_skip_41915 | chr3 | 55510904:55511276:55606780:55606966:55683794:55683859 | 55606780:55606966 |
| exon_skip_81822 | chr3 | 55992057:55992250:56003099:56003134:56007181:56007321 | 56003099:56003134 |
| exon_skip_91298 | chr3 | 56173446:56173520:56296019:56296435:56434351:56434747 | 56296019:56296435 |
| 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 ERC2 |
| 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 |
| ENST00000612797 | 55606780 | 55606966 | 5UTR-5UTR |
| ENST00000288221 | 55950425 | 55950560 | Frame-shift |
| ENST00000612797 | 55950425 | 55950560 | Frame-shift |
| ENST00000288221 | 55985977 | 55985988 | In-frame |
| ENST00000612797 | 55985977 | 55985988 | 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 |
| ENST00000612797 | 55606780 | 55606966 | 5UTR-5UTR |
| ENST00000288221 | 55950425 | 55950560 | Frame-shift |
| ENST00000612797 | 55950425 | 55950560 | Frame-shift |
| ENST00000288221 | 55985977 | 55985988 | In-frame |
| ENST00000612797 | 55985977 | 55985988 | In-frame |
| ENST00000288221 | 56296019 | 56296435 | In-frame |
| ENST00000612797 | 56296019 | 56296435 | 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 |
| ENST00000612797 | 55606780 | 55606966 | 5UTR-5UTR |
| ENST00000288221 | 55985977 | 55985988 | In-frame |
| ENST00000612797 | 55985977 | 55985988 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ERC2 |
p-ENSG00000187672_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 |
| ENST00000288221 | 6155 | 957 | 56296019 | 56296435 | 914 | 1329 | 219 | 357 |
| ENST00000612797 | 3848 | 957 | 56296019 | 56296435 | 888 | 1303 | 219 | 357 |
| 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 |
| O15083 | 219 | 357 | 1 | 957 | Chain | ID=PRO_0000087002;Note=ERC protein 2 |
| O15083 | 219 | 357 | 1 | 957 | Chain | ID=PRO_0000087002;Note=ERC protein 2 |
| O15083 | 219 | 357 | 140 | 917 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15083 | 219 | 357 | 140 | 917 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 ERC2 |
| 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 ERC2 |
| - 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 ERC2 |
| 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 |
| CDR | MSBB | STG | exon_skip_243546 | -3.045806e-01 | 2.993417e-03 | chr3 | - | 55950425 | 55950560 | 55974213 | 55975482 | 55985977 | 55985988 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ERC2 |
| 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 ERC2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| DLPFC | MBNL1 | exon_skip_81822 | 4.036101e-01 | 5.635024e-11 |
| IFG | PABPN1 | exon_skip_41915 | -5.088116e-01 | 1.849711e-02 |
| IFG | RBM25 | exon_skip_41915 | -4.683676e-01 | 3.223838e-02 |
| IFG | SRSF11 | exon_skip_41915 | -5.472986e-01 | 1.023296e-02 |
| IFG | RBM5 | exon_skip_41915 | -4.631490e-01 | 3.447964e-02 |
| IFG | RC3H1 | exon_skip_41915 | -6.960281e-01 | 4.579720e-04 |
| IFG | SF1 | exon_skip_41915 | -5.257720e-01 | 1.436674e-02 |
| IFG | CELF1 | exon_skip_41915 | -5.994844e-01 | 4.075931e-03 |
| PG | HNRNPK | exon_skip_81822 | 4.238727e-01 | 4.420219e-10 |
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RelatedDrugs for ERC2 |
| 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 ERC2 |
| 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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