|
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 CCDC158 |
Gene summary |
Gene information | Gene symbol | CCDC158 | Gene ID | 339965 |
Gene name | coiled-coil domain containing 158 | |
Synonyms | - | |
Cytomap | 4q21.1 | |
Type of gene | protein-coding | |
Description | coiled-coil domain-containing protein 158 | |
Modification date | 20200313 | |
UniProtAcc | Q5M9N0, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
Top |
Gene structures and expression levels for CCDC158 |
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 |
PG | DOWN | ENST00000504667.2 | CCDC158-203:retained_intron:CCDC158 | 4.978239e+00 | -8.178146e-01 | 7.197750e-06 | 3.937037e-04 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CCDC158 |
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_192794 | chr4 | 76384379:76384415:76384556:76384665:76396269:76396486 | 76384556:76384665 |
exon_skip_218341 | chr4 | 76384556:76384665:76396269:76396486:76403138:76403276 | 76396269:76396486 |
exon_skip_293469 | chr4 | 76384556:76384665:76396269:76396486:76403138:76403280 | 76396269:76396486 |
exon_skip_341 | chr4 | 76383662:76383738:76384088:76384415:76384556:76384665 | 76384088:76384415 |
exon_skip_56828 | chr4 | 76379290:76379404:76382610:76382720:76383662:76383738 | 76382610:76382720 |
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 CCDC158 |
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 |
ENST00000388914 | 76384088 | 76384415 | Frame-shift |
ENST00000388914 | 76384556 | 76384665 | Frame-shift |
ENST00000388914 | 76396269 | 76396486 | Frame-shift |
ENST00000388914 | 76382610 | 76382720 | 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 |
ENST00000388914 | 76384556 | 76384665 | Frame-shift |
ENST00000388914 | 76396269 | 76396486 | Frame-shift |
ENST00000388914 | 76382610 | 76382720 | 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 |
ENST00000388914 | 76384556 | 76384665 | Frame-shift |
ENST00000388914 | 76396269 | 76396486 | Frame-shift |
ENST00000388914 | 76382610 | 76382720 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for CCDC158 |
p-ENSG00000163749_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 |
ENST00000388914 | 3680 | 1113 | 76382610 | 76382720 | 957 | 1066 | 268 | 304 |
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 |
ENST00000388914 | 3680 | 1113 | 76382610 | 76382720 | 957 | 1066 | 268 | 304 |
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 |
ENST00000388914 | 3680 | 1113 | 76382610 | 76382720 | 957 | 1066 | 268 | 304 |
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 |
Q5M9N0 | 268 | 304 | 1 | 1113 | Chain | ID=PRO_0000325760;Note=Coiled-coil domain-containing protein 158 |
Q5M9N0 | 268 | 304 | 243 | 833 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q5M9N0 | 268 | 304 | 297 | 297 | Natural variant | ID=VAR_039910;Note=I->V;Dbxref=dbSNP:rs17001885 |
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 |
Q5M9N0 | 268 | 304 | 1 | 1113 | Chain | ID=PRO_0000325760;Note=Coiled-coil domain-containing protein 158 |
Q5M9N0 | 268 | 304 | 243 | 833 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q5M9N0 | 268 | 304 | 297 | 297 | Natural variant | ID=VAR_039910;Note=I->V;Dbxref=dbSNP:rs17001885 |
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 |
Q5M9N0 | 268 | 304 | 1 | 1113 | Chain | ID=PRO_0000325760;Note=Coiled-coil domain-containing protein 158 |
Q5M9N0 | 268 | 304 | 243 | 833 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q5M9N0 | 268 | 304 | 297 | 297 | Natural variant | ID=VAR_039910;Note=I->V;Dbxref=dbSNP:rs17001885 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in CCDC158 |
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 |
Top |
SNVs in the skipped exons for CCDC158 |
- 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 CCDC158 |
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 CCDC158 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for CCDC158 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for CCDC158 |
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 CCDC158 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |