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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 SERAC1 |
Gene summary |
Gene information | Gene symbol | SERAC1 | Gene ID | 84947 |
Gene name | serine active site containing 1 | |
Synonyms | - | |
Cytomap | 6q25.3 | |
Type of gene | protein-coding | |
Description | protein SERAC1serine active site-containing protein 1 | |
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 SERAC1 |
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. |
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 |
CB | UP | ENST00000642244.1 | SERAC1-207:protein_coding:SERAC1 | 1.336180e+01 | 1.176670e+00 | 7.871825e-03 | 2.858278e-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 SERAC1 |
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_137029 | chr6 | 158116185:158116282:158117727:158117821:158119029:158119170 | 158117727:158117821 |
exon_skip_151917 | chr6 | 158120425:158120575:158128108:158128270:158143056:158143184 | 158128108:158128270 |
exon_skip_180445 | chr6 | 158150453:158150589:158155315:158155351:158158273:158158364 | 158155315:158155351 |
exon_skip_225146 | chr6 | 158120425:158120575:158130373:158130486:158143056:158143184 | 158130373:158130486 |
exon_skip_237133 | chr6 | 158158273:158158364:158162148:158162152:158168140:158168268 | 158162148:158162152 |
exon_skip_247541 | chr6 | 158144299:158144420:158146782:158146913:158148865:158148954 | 158146782:158146913 |
exon_skip_279107 | chr6 | 158146782:158146913:158148865:158148954:158150453:158150587 | 158148865:158148954 |
exon_skip_33112 | chr6 | 158146870:158146913:158148865:158148954:158150453:158150563 | 158148865:158148954 |
exon_skip_48177 | chr6 | 158120425:158120575:158128108:158128270:158130373:158130486 | 158128108:158128270 |
exon_skip_68032 | chr6 | 158128108:158128270:158130373:158130486:158143056:158143184 | 158130373:158130486 |
exon_skip_89468 | chr6 | 158116185:158116282:158117532:158117575:158117727:158117821 | 158117532:158117575 |
exon_skip_9903 | chr6 | 158116185:158116282:158117727:158117821:158119029:158119120 | 158117727:158117821 |
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 SERAC1 |
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 |
ENST00000647468 | 158117727 | 158117821 | Frame-shift |
ENST00000647468 | 158128108 | 158128270 | Frame-shift |
ENST00000647468 | 158155315 | 158155351 | Frame-shift |
ENST00000647468 | 158130373 | 158130486 | In-frame |
ENST00000647468 | 158146782 | 158146913 | In-frame |
ENST00000647468 | 158148865 | 158148954 | 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 |
ENST00000647468 | 158117727 | 158117821 | Frame-shift |
ENST00000647468 | 158155315 | 158155351 | Frame-shift |
ENST00000647468 | 158130373 | 158130486 | In-frame |
ENST00000647468 | 158146782 | 158146913 | In-frame |
ENST00000647468 | 158148865 | 158148954 | 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 |
ENST00000647468 | 158117727 | 158117821 | Frame-shift |
ENST00000647468 | 158128108 | 158128270 | Frame-shift |
ENST00000647468 | 158155315 | 158155351 | Frame-shift |
ENST00000647468 | 158130373 | 158130486 | In-frame |
ENST00000647468 | 158146782 | 158146913 | In-frame |
ENST00000647468 | 158148865 | 158148954 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SERAC1 |
p-ENSG00000122335_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 |
ENST00000647468 | 3975 | 654 | 158148865 | 158148954 | 408 | 496 | 88 | 118 |
ENST00000647468 | 3975 | 654 | 158146782 | 158146913 | 498 | 628 | 118 | 162 |
ENST00000647468 | 3975 | 654 | 158130373 | 158130486 | 881 | 993 | 246 | 283 |
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 |
ENST00000647468 | 3975 | 654 | 158148865 | 158148954 | 408 | 496 | 88 | 118 |
ENST00000647468 | 3975 | 654 | 158146782 | 158146913 | 498 | 628 | 118 | 162 |
ENST00000647468 | 3975 | 654 | 158130373 | 158130486 | 881 | 993 | 246 | 283 |
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 |
ENST00000647468 | 3975 | 654 | 158148865 | 158148954 | 408 | 496 | 88 | 118 |
ENST00000647468 | 3975 | 654 | 158146782 | 158146913 | 498 | 628 | 118 | 162 |
ENST00000647468 | 3975 | 654 | 158130373 | 158130486 | 881 | 993 | 246 | 283 |
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 |
Q96JX3 | 88 | 118 | 1 | 654 | Chain | ID=PRO_0000274671;Note=Protein SERAC1 |
Q96JX3 | 118 | 162 | 1 | 654 | Chain | ID=PRO_0000274671;Note=Protein SERAC1 |
Q96JX3 | 246 | 283 | 168 | 654 | Alternative sequence | ID=VSP_022858;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q96JX3 | 246 | 283 | 1 | 654 | Chain | ID=PRO_0000274671;Note=Protein SERAC1 |
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 |
Q96JX3 | 88 | 118 | 1 | 654 | Chain | ID=PRO_0000274671;Note=Protein SERAC1 |
Q96JX3 | 118 | 162 | 1 | 654 | Chain | ID=PRO_0000274671;Note=Protein SERAC1 |
Q96JX3 | 246 | 283 | 168 | 654 | Alternative sequence | ID=VSP_022858;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q96JX3 | 246 | 283 | 1 | 654 | Chain | ID=PRO_0000274671;Note=Protein SERAC1 |
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 |
Q96JX3 | 88 | 118 | 1 | 654 | Chain | ID=PRO_0000274671;Note=Protein SERAC1 |
Q96JX3 | 118 | 162 | 1 | 654 | Chain | ID=PRO_0000274671;Note=Protein SERAC1 |
Q96JX3 | 246 | 283 | 168 | 654 | Alternative sequence | ID=VSP_022858;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q96JX3 | 246 | 283 | 1 | 654 | Chain | ID=PRO_0000274671;Note=Protein SERAC1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SERAC1 |
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 SERAC1 |
- 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 SERAC1 |
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 SERAC1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
CB | exon_skip_33112 | rs6909925 | chr6:158213143 | 2.805900e-05 | 6.105005e-03 |
CB | exon_skip_33112 | rs9347131 | chr6:158213846 | 2.805900e-05 | 6.105005e-03 |
CB | exon_skip_33112 | rs10946113 | chr6:158163659 | 2.814974e-05 | 6.112969e-03 |
CB | exon_skip_33112 | rs10946136 | chr6:158184657 | 2.814974e-05 | 6.112969e-03 |
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Correlation with RNA binding proteins (RBPs) for SERAC1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | NUP42 | exon_skip_9903 | 5.488043e-01 | 3.836006e-12 |
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RelatedDrugs for SERAC1 |
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 SERAC1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |