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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 SOX10 |
Gene summary |
Gene information | Gene symbol | SOX10 | Gene ID | 6663 |
Gene name | SRY-box transcription factor 10 | |
Synonyms | DOM|PCWH|WS2E|WS4|WS4C | |
Cytomap | 22q13.1 | |
Type of gene | protein-coding | |
Description | transcription factor SOX-10SRY (sex determining region Y)-box 10SRY-box 10SRY-related HMG-box gene 10dominant megacolon, mouse, human homolog of | |
Modification date | 20200322 | |
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 SOX10 |
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 | DOWN | ENST00000651746.1 | SOX10-206:protein_coding:SOX10 | 1.479597e+00 | -2.308811e+00 | 4.650605e-03 | 1.854585e-02 |
TC | DOWN | ENST00000360880.6 | SOX10-201:protein_coding:SOX10 | 6.673143e+02 | -9.735376e-01 | 3.256387e-04 | 4.096213e-03 |
TC | DOWN | ENST00000651746.1 | SOX10-206:protein_coding:SOX10 | 1.958323e+00 | -1.873787e+00 | 4.617310e-03 | 3.156439e-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 SOX10 |
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_13878 | chr22 | 37983357:37983868:37984339:37984441:37987345:37987422 | 37984339:37984441 |
exon_skip_152803 | chr22 | 37974044:37974198:37977867:37978135:37983357:37983414 | 37977867:37978135 |
exon_skip_269829 | chr22 | 37978082:37978135:37983357:37983868:37984339:37984408 | 37983357:37983868 |
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 SOX10 |
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 |
ENST00000360880 | 37983357 | 37983868 | 3UTR-3CDS |
ENST00000396884 | 37983357 | 37983868 | 3UTR-3CDS |
ENST00000360880 | 37977867 | 37978135 | Frame-shift |
ENST00000396884 | 37977867 | 37978135 | Frame-shift |
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 |
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 |
ENST00000360880 | 37983357 | 37983868 | 3UTR-3CDS |
ENST00000396884 | 37983357 | 37983868 | 3UTR-3CDS |
ENST00000360880 | 37984339 | 37984441 | 3UTR-3UTR |
ENST00000360880 | 37977867 | 37978135 | Frame-shift |
ENST00000396884 | 37977867 | 37978135 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SOX10 |
p-ENSG00000100146_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 SOX10 |
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 | ENST00000360880 | 37984339 | 37984441 | hsa-miR-1302 | chr22:37984392-37984399 | 8mer-1a | chr22:37984379-37984400 | 147.00 | -17.10 |
Mayo | ENST00000360880 | 37984339 | 37984441 | hsa-miR-4298 | chr22:37984392-37984399 | 8mer-1a | chr22:37984379-37984400 | 147.00 | -17.10 |
Mayo | ENST00000360880 | 37984339 | 37984441 | hsa-miR-4436b-5p | chr22:37984379-37984386 | 8mer-1a | chr22:37984379-37984400 | 147.00 | -17.10 |
Mayo | ENST00000360880 | 37984339 | 37984441 | hsa-miR-1306-5p | chr22:37984424-37984431 | 8mer-1a | chr22:37984419-37984440 | 150.00 | -23.46 |
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SNVs in the skipped exons for SOX10 |
- 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 SOX10 |
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 SOX10 |
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 SOX10 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for SOX10 |
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 SOX10 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |