|
||||||
|
 | |
| |
| |
| 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 ASCC2 |
 Gene summary |
| Gene information | Gene symbol | ASCC2 | Gene ID | 84164 |
| Gene name | activating signal cointegrator 1 complex subunit 2 | |
| Synonyms | ASC1p100|p100 | |
| Cytomap | 22q12.2 | |
| Type of gene | protein-coding | |
| Description | activating signal cointegrator 1 complex subunit 2ASC-1 complex subunit P100trip4 complex subunit p100 | |
| 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 |
| ASCC2 | GO:0006355 | regulation of transcription, DNA-templated | 12077347 |
Top |
Gene structures and expression levels for ASCC2 |
| 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. |
 |
ENSG00000100325
| 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 |
| PG | UP | ENST00000495967.5 | ASCC2-222:lncRNA:ASCC2 | 2.154427e+00 | 1.051340e+00 | 5.072274e-03 | 4.616150e-02 |
| CB | DOWN | ENST00000487486.5 | ASCC2-219:retained_intron:ASCC2 | 1.103955e+02 | -1.517066e+00 | 3.738341e-09 | 1.316613e-07 |
| TC | DOWN | ENST00000487486.5 | ASCC2-219:retained_intron:ASCC2 | 1.035726e+02 | -1.257373e+00 | 4.613433e-07 | 2.158522e-05 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ASCC2 |
| 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_10183 | chr22 | 29825694:29825780:29827477:29827600:29832245:29832342 | 29827477:29827600 |
| exon_skip_105032 | chr22 | 29816006:29816073:29822335:29822464:29825087:29825257 | 29822335:29822464 |
| exon_skip_114193 | chr22 | 29825629:29825780:29832245:29832342:29833541:29833614 | 29832245:29832342 |
| exon_skip_132239 | chr22 | 29825694:29825780:29832245:29832342:29833541:29833614 | 29832245:29832342 |
| exon_skip_135178 | chr22 | 29814657:29814767:29815172:29815289:29816006:29816073 | 29815172:29815289 |
| exon_skip_161685 | chr22 | 29825694:29825780:29833541:29833614:29834489:29834550 | 29833541:29833614 |
| exon_skip_166058 | chr22 | 29806836:29806904:29808111:29808185:29813430:29813542 | 29808111:29808185 |
| exon_skip_168327 | chr22 | 29800991:29801110:29801994:29802208:29804638:29804824 | 29801994:29802208 |
| exon_skip_190827 | chr22 | 29832245:29832342:29833541:29833614:29834489:29834550 | 29833541:29833614 |
| exon_skip_202037 | chr22 | 29825629:29825780:29833541:29833614:29834489:29834550 | 29833541:29833614 |
| exon_skip_229545 | chr22 | 29832245:29832342:29834489:29834550:29838178:29838228 | 29834489:29834550 |
| exon_skip_232510 | chr22 | 29827477:29827600:29832245:29832342:29834489:29834550 | 29832245:29832342 |
| exon_skip_238067 | chr22 | 29825694:29825780:29832245:29832342:29834489:29834550 | 29832245:29832342 |
| exon_skip_256029 | chr22 | 29825214:29825257:29825622:29825780:29832245:29832342 | 29825622:29825780 |
| exon_skip_46188 | chr22 | 29825622:29825780:29832245:29832342:29833541:29833614 | 29832245:29832342 |
| exon_skip_51597 | chr22 | 29825694:29825780:29832245:29832342:29838178:29838228 | 29832245:29832342 |
| exon_skip_70190 | chr22 | 29822352:29822464:29825087:29825257:29838178:29838228 | 29825087:29825257 |
| exon_skip_92506 | chr22 | 29825622:29825780:29833541:29833614:29834489:29834550 | 29833541:29833614 |
| exon_skip_93174 | chr22 | 29832245:29832342:29834442:29834550:29838178:29838228 | 29834442:29834550 |
| 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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ASCC2 |
| 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 |
| ENST00000307790 | 29832245 | 29832342 | 3UTR-3CDS |
| ENST00000397771 | 29832245 | 29832342 | 3UTR-3CDS |
| ENST00000397771 | 29834489 | 29834550 | 3UTR-3UTR |
| ENST00000307790 | 29822335 | 29822464 | Frame-shift |
| ENST00000397771 | 29822335 | 29822464 | Frame-shift |
| ENST00000307790 | 29808111 | 29808185 | In-frame |
| ENST00000397771 | 29808111 | 29808185 | In-frame |
| ENST00000307790 | 29825622 | 29825780 | In-frame |
| ENST00000397771 | 29825622 | 29825780 | 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 |
| ENST00000307790 | 29832245 | 29832342 | 3UTR-3CDS |
| ENST00000397771 | 29834489 | 29834550 | 3UTR-3UTR |
| ENST00000307790 | 29808111 | 29808185 | In-frame |
| ENST00000397771 | 29808111 | 29808185 | In-frame |
| ENST00000307790 | 29825622 | 29825780 | In-frame |
| ENST00000397771 | 29825622 | 29825780 | 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 |
| ENST00000307790 | 29832245 | 29832342 | 3UTR-3CDS |
| ENST00000397771 | 29832245 | 29832342 | 3UTR-3CDS |
| ENST00000397771 | 29834489 | 29834550 | 3UTR-3UTR |
| ENST00000307790 | 29801994 | 29802208 | Frame-shift |
| ENST00000397771 | 29801994 | 29802208 | Frame-shift |
| ENST00000307790 | 29822335 | 29822464 | Frame-shift |
| ENST00000397771 | 29822335 | 29822464 | Frame-shift |
| ENST00000307790 | 29808111 | 29808185 | In-frame |
| ENST00000397771 | 29808111 | 29808185 | In-frame |
| ENST00000307790 | 29825622 | 29825780 | In-frame |
| ENST00000397771 | 29825622 | 29825780 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ASCC2 |
p-ENSG00000100325_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 |
| ENST00000307790 | 2810 | 757 | 29825622 | 29825780 | 196 | 353 | 27 | 79 |
| ENST00000397771 | 2840 | 757 | 29825622 | 29825780 | 260 | 417 | 27 | 79 |
| ENST00000307790 | 2810 | 757 | 29808111 | 29808185 | 948 | 1021 | 278 | 302 |
| ENST00000397771 | 2840 | 757 | 29808111 | 29808185 | 1012 | 1085 | 278 | 302 |
| 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 |
| ENST00000307790 | 2810 | 757 | 29825622 | 29825780 | 196 | 353 | 27 | 79 |
| ENST00000397771 | 2840 | 757 | 29825622 | 29825780 | 260 | 417 | 27 | 79 |
| ENST00000307790 | 2810 | 757 | 29808111 | 29808185 | 948 | 1021 | 278 | 302 |
| ENST00000397771 | 2840 | 757 | 29808111 | 29808185 | 1012 | 1085 | 278 | 302 |
| 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 |
| ENST00000307790 | 2810 | 757 | 29825622 | 29825780 | 196 | 353 | 27 | 79 |
| ENST00000397771 | 2840 | 757 | 29825622 | 29825780 | 260 | 417 | 27 | 79 |
| ENST00000307790 | 2810 | 757 | 29808111 | 29808185 | 948 | 1021 | 278 | 302 |
| ENST00000397771 | 2840 | 757 | 29808111 | 29808185 | 1012 | 1085 | 278 | 302 |
| 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 |
| Q9H1I8 | 27 | 79 | 1 | 114 | Alternative sequence | ID=VSP_011009;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H1I8 | 27 | 79 | 1 | 114 | Alternative sequence | ID=VSP_011009;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H1I8 | 27 | 79 | 28 | 80 | Alternative sequence | ID=VSP_045878;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H1I8 | 27 | 79 | 28 | 80 | Alternative sequence | ID=VSP_045878;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H1I8 | 27 | 79 | 1 | 757 | Chain | ID=PRO_0000064689;Note=Activating signal cointegrator 1 complex subunit 2 |
| Q9H1I8 | 27 | 79 | 1 | 757 | Chain | ID=PRO_0000064689;Note=Activating signal cointegrator 1 complex subunit 2 |
| Q9H1I8 | 278 | 302 | 1 | 757 | Chain | ID=PRO_0000064689;Note=Activating signal cointegrator 1 complex subunit 2 |
| Q9H1I8 | 278 | 302 | 1 | 757 | Chain | ID=PRO_0000064689;Note=Activating signal cointegrator 1 complex subunit 2 |
| 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 |
| Q9H1I8 | 27 | 79 | 1 | 114 | Alternative sequence | ID=VSP_011009;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H1I8 | 27 | 79 | 1 | 114 | Alternative sequence | ID=VSP_011009;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H1I8 | 27 | 79 | 28 | 80 | Alternative sequence | ID=VSP_045878;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H1I8 | 27 | 79 | 28 | 80 | Alternative sequence | ID=VSP_045878;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H1I8 | 27 | 79 | 1 | 757 | Chain | ID=PRO_0000064689;Note=Activating signal cointegrator 1 complex subunit 2 |
| Q9H1I8 | 27 | 79 | 1 | 757 | Chain | ID=PRO_0000064689;Note=Activating signal cointegrator 1 complex subunit 2 |
| Q9H1I8 | 278 | 302 | 1 | 757 | Chain | ID=PRO_0000064689;Note=Activating signal cointegrator 1 complex subunit 2 |
| Q9H1I8 | 278 | 302 | 1 | 757 | Chain | ID=PRO_0000064689;Note=Activating signal cointegrator 1 complex subunit 2 |
| 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 |
| Q9H1I8 | 27 | 79 | 1 | 114 | Alternative sequence | ID=VSP_011009;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H1I8 | 27 | 79 | 1 | 114 | Alternative sequence | ID=VSP_011009;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H1I8 | 27 | 79 | 28 | 80 | Alternative sequence | ID=VSP_045878;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H1I8 | 27 | 79 | 28 | 80 | Alternative sequence | ID=VSP_045878;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H1I8 | 27 | 79 | 1 | 757 | Chain | ID=PRO_0000064689;Note=Activating signal cointegrator 1 complex subunit 2 |
| Q9H1I8 | 27 | 79 | 1 | 757 | Chain | ID=PRO_0000064689;Note=Activating signal cointegrator 1 complex subunit 2 |
| Q9H1I8 | 278 | 302 | 1 | 757 | Chain | ID=PRO_0000064689;Note=Activating signal cointegrator 1 complex subunit 2 |
| Q9H1I8 | 278 | 302 | 1 | 757 | Chain | ID=PRO_0000064689;Note=Activating signal cointegrator 1 complex subunit 2 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in ASCC2 |
| 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 | ENST00000397771 | 29834489 | 29834550 | hsa-miR-3692-5p | chr22:29834508-29834515 | 8mer-1a | chr22:29834496-29834517 | 167.00 | -26.88 |
| MSBB | ENST00000397771 | 29834489 | 29834550 | hsa-miR-3692-5p | chr22:29834508-29834515 | 8mer-1a | chr22:29834496-29834517 | 167.00 | -26.88 |
| ROSMAP | ENST00000397771 | 29834489 | 29834550 | hsa-miR-3692-5p | chr22:29834508-29834515 | 8mer-1a | chr22:29834496-29834517 | 167.00 | -26.88 |
Top |
SNVs in the skipped exons for ASCC2 |
| - 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 |
Top |
AD stage-associated exon skippint events for ASCC2 |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ASCC2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_256029 | rs140147 | chr22:29788610 | 2.265418e-05 | 5.116342e-03 |
| CB | exon_skip_256029 | rs140145 | chr22:29782316 | 1.050342e-04 | 1.798899e-02 |
| CB | exon_skip_256029 | rs5752964 | chr22:29812619 | 1.370145e-04 | 2.215205e-02 |
Top |
Correlation with RNA binding proteins (RBPs) for ASCC2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_192971 | -4.513002e-01 | 1.436325e-07 |
| CB | HNRNPA2B1 | exon_skip_192971 | -4.336925e-01 | 4.860641e-07 |
Top |
RelatedDrugs for ASCC2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for ASCC2 |
| 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)
|