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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 KLHDC8A |
Gene summary |
Gene information | Gene symbol | KLHDC8A | Gene ID | 55220 |
Gene name | kelch domain containing 8A | |
Synonyms | - | |
Cytomap | 1q32.1 | |
Type of gene | protein-coding | |
Description | kelch domain-containing protein 8AS-delta-E1substitute for delta-EGFR expression 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 KLHDC8A |
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 | ENST00000606529.5 | KLHDC8A-208:lncRNA:KLHDC8A | 2.397834e+00 | -1.064480e+00 | 1.293017e-02 | 4.282568e-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 KLHDC8A |
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_143324 | chr1 | 205344134:205344458:205348376:205348590:205356533:205356569 | 205348376:205348590 |
exon_skip_158628 | chr1 | 205343698:205343793:205344134:205344458:205356533:205356569 | 205344134:205344458 |
exon_skip_212845 | chr1 | 205343698:205343793:205348376:205348590:205356533:205356569 | 205348376:205348590 |
exon_skip_233804 | chr1 | 205343698:205343793:205344134:205344458:205348376:205348590 | 205344134:205344458 |
exon_skip_240481 | chr1 | 205344411:205344458:205348376:205348590:205356533:205356569 | 205348376:205348590 |
exon_skip_93264 | chr1 | 205343526:205343793:205348376:205348590:205356533:205356569 | 205348376:205348590 |
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 KLHDC8A |
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 |
ENST00000367156 | 205344134 | 205344458 | 3UTR-3UTR |
ENST00000367156 | 205348376 | 205348590 | 3UTR-3UTR |
ENST00000539253 | 205348376 | 205348590 | 3UTR-3UTR |
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 |
ENST00000367156 | 205344134 | 205344458 | 3UTR-3UTR |
ENST00000367156 | 205348376 | 205348590 | 3UTR-3UTR |
ENST00000539253 | 205348376 | 205348590 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for KLHDC8A |
p-ENSG00000162873_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 KLHDC8A |
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 | ENST00000539253 | 205348376 | 205348590 | hsa-miR-6742-5p | chr1:205348474-205348481 | 8mer-1a | chr1:205348458-205348482 | 155.00 | -22.35 |
Mayo | ENST00000367156 | 205344134 | 205344458 | hsa-miR-6072 | chr1:205344273-205344280 | 8mer-1a | chr1:205344260-205344280 | 147.00 | -12.20 |
Mayo | ENST00000367156 | 205344134 | 205344458 | hsa-miR-604 | chr1:205344361-205344368 | 8mer-1a | chr1:205344357-205344378 | 163.00 | -26.04 |
Mayo | ENST00000539253 | 205348376 | 205348590 | hsa-miR-6753-3p | chr1:205348479-205348486 | 8mer-1a | chr1:205348474-205348491 | 153.00 | -23.54 |
Mayo | ENST00000367156 | 205344134 | 205344458 | hsa-miR-3657 | chr1:205344400-205344407 | 8mer-1a | chr1:205344398-205344419 | 146.00 | -21.42 |
Mayo | ENST00000539253 | 205348376 | 205348590 | hsa-miR-7107-3p | chr1:205348479-205348486 | 8mer-1a | chr1:205348474-205348491 | 153.00 | -23.54 |
Mayo | ENST00000367156 | 205344134 | 205344458 | hsa-miR-4707-5p | chr1:205344217-205344224 | 8mer-1a | chr1:205344207-205344230 | 157.00 | -33.76 |
Mayo | ENST00000539253 | 205348376 | 205348590 | hsa-miR-342-5p | chr1:205348472-205348479 | 8mer-1a | chr1:205348456-205348480 | 157.00 | -24.95 |
Mayo | ENST00000367156 | 205344134 | 205344458 | hsa-miR-370-3p | chr1:205344292-205344299 | 8mer-1a | chr1:205344275-205344299 | 157.00 | -21.90 |
Mayo | ENST00000539253 | 205348376 | 205348590 | hsa-miR-134-3p | chr1:205348476-205348483 | 8mer-1a | chr1:205348474-205348491 | 153.00 | -23.54 |
Mayo | ENST00000367156 | 205344134 | 205344458 | hsa-miR-668-5p | chr1:205344161-205344168 | 8mer-1a | chr1:205344148-205344168 | 147.00 | -23.81 |
Mayo | ENST00000367156 | 205344134 | 205344458 | hsa-miR-1247-3p | chr1:205344396-205344403 | 8mer-1a | chr1:205344385-205344405 | 170.00 | -36.68 |
Mayo | ENST00000539253 | 205348376 | 205348590 | hsa-miR-6777-5p | chr1:205348426-205348433 | 8mer-1a | chr1:205348409-205348433 | 159.00 | -29.83 |
Mayo | ENST00000367156 | 205344134 | 205344458 | hsa-miR-4725-3p | chr1:205344239-205344246 | 8mer-1a | chr1:205344229-205344248 | 165.00 | -32.09 |
Mayo | ENST00000367156 | 205344134 | 205344458 | hsa-miR-3191-3p | chr1:205344351-205344358 | 8mer-1a | chr1:205344336-205344358 | 169.00 | -28.71 |
Mayo | ENST00000539253 | 205348376 | 205348590 | hsa-miR-10b-3p | chr1:205348573-205348580 | 8mer-1a | chr1:205348569-205348589 | 157.00 | -19.39 |
Mayo | ENST00000539253 | 205348376 | 205348590 | hsa-miR-561-5p | chr1:205348568-205348575 | 8mer-1a | chr1:205348557-205348580 | 151.00 | -14.97 |
Mayo | ENST00000539253 | 205348376 | 205348590 | hsa-miR-6889-5p | chr1:205348426-205348433 | 8mer-1a | chr1:205348409-205348433 | 159.00 | -29.83 |
Mayo | ENST00000367156 | 205344134 | 205344458 | hsa-miR-3667-3p | chr1:205344296-205344303 | 8mer-1a | chr1:205344281-205344303 | 141.00 | -14.04 |
Mayo | ENST00000367156 | 205344134 | 205344458 | hsa-miR-4271 | chr1:205344239-205344246 | 8mer-1a | chr1:205344229-205344248 | 165.00 | -32.09 |
Mayo | ENST00000367156 | 205344134 | 205344458 | hsa-miR-4449 | chr1:205344398-205344405 | 8mer-1a | chr1:205344385-205344405 | 170.00 | -36.68 |
Mayo | ENST00000539253 | 205348376 | 205348590 | hsa-miR-3650 | chr1:205348414-205348421 | 8mer-1a | chr1:205348409-205348433 | 159.00 | -29.83 |
Mayo | ENST00000367156 | 205344134 | 205344458 | hsa-miR-2277-3p | chr1:205344257-205344264 | 8mer-1a | chr1:205344241-205344264 | 153.00 | -23.73 |
Mayo | ENST00000367156 | 205344134 | 205344458 | hsa-miR-6891-3p | chr1:205344273-205344280 | 8mer-1a | chr1:205344260-205344280 | 147.00 | -12.20 |
Mayo | ENST00000539253 | 205348376 | 205348590 | hsa-miR-5004-5p | chr1:205348582-205348589 | 8mer-1a | chr1:205348569-205348589 | 157.00 | -19.39 |
Mayo | ENST00000367156 | 205344134 | 205344458 | hsa-miR-6780b-5p | chr1:205344239-205344246 | 8mer-1a | chr1:205344229-205344248 | 165.00 | -32.09 |
Mayo | ENST00000539253 | 205348376 | 205348590 | hsa-miR-4664-5p | chr1:205348472-205348479 | 8mer-1a | chr1:205348456-205348480 | 157.00 | -24.95 |
Mayo | ENST00000367156 | 205344134 | 205344458 | hsa-miR-6893-3p | chr1:205344292-205344299 | 8mer-1a | chr1:205344275-205344299 | 157.00 | -21.90 |
Mayo | ENST00000367156 | 205344134 | 205344458 | hsa-miR-542-3p | chr1:205344259-205344266 | 8mer-1a | chr1:205344257-205344278 | 150.00 | -20.85 |
ROSMAP | ENST00000539253 | 205348376 | 205348590 | hsa-miR-6742-5p | chr1:205348474-205348481 | 8mer-1a | chr1:205348458-205348482 | 155.00 | -22.35 |
ROSMAP | ENST00000367156 | 205344134 | 205344458 | hsa-miR-6072 | chr1:205344273-205344280 | 8mer-1a | chr1:205344260-205344280 | 147.00 | -12.20 |
ROSMAP | ENST00000367156 | 205344134 | 205344458 | hsa-miR-604 | chr1:205344361-205344368 | 8mer-1a | chr1:205344357-205344378 | 163.00 | -26.04 |
ROSMAP | ENST00000539253 | 205348376 | 205348590 | hsa-miR-6753-3p | chr1:205348479-205348486 | 8mer-1a | chr1:205348474-205348491 | 153.00 | -23.54 |
ROSMAP | ENST00000367156 | 205344134 | 205344458 | hsa-miR-3657 | chr1:205344400-205344407 | 8mer-1a | chr1:205344398-205344419 | 146.00 | -21.42 |
ROSMAP | ENST00000539253 | 205348376 | 205348590 | hsa-miR-7107-3p | chr1:205348479-205348486 | 8mer-1a | chr1:205348474-205348491 | 153.00 | -23.54 |
ROSMAP | ENST00000367156 | 205344134 | 205344458 | hsa-miR-4707-5p | chr1:205344217-205344224 | 8mer-1a | chr1:205344207-205344230 | 157.00 | -33.76 |
ROSMAP | ENST00000539253 | 205348376 | 205348590 | hsa-miR-342-5p | chr1:205348472-205348479 | 8mer-1a | chr1:205348456-205348480 | 157.00 | -24.95 |
ROSMAP | ENST00000367156 | 205344134 | 205344458 | hsa-miR-370-3p | chr1:205344292-205344299 | 8mer-1a | chr1:205344275-205344299 | 157.00 | -21.90 |
ROSMAP | ENST00000539253 | 205348376 | 205348590 | hsa-miR-134-3p | chr1:205348476-205348483 | 8mer-1a | chr1:205348474-205348491 | 153.00 | -23.54 |
ROSMAP | ENST00000367156 | 205344134 | 205344458 | hsa-miR-668-5p | chr1:205344161-205344168 | 8mer-1a | chr1:205344148-205344168 | 147.00 | -23.81 |
ROSMAP | ENST00000367156 | 205344134 | 205344458 | hsa-miR-1247-3p | chr1:205344396-205344403 | 8mer-1a | chr1:205344385-205344405 | 170.00 | -36.68 |
ROSMAP | ENST00000539253 | 205348376 | 205348590 | hsa-miR-6777-5p | chr1:205348426-205348433 | 8mer-1a | chr1:205348409-205348433 | 159.00 | -29.83 |
ROSMAP | ENST00000367156 | 205344134 | 205344458 | hsa-miR-4725-3p | chr1:205344239-205344246 | 8mer-1a | chr1:205344229-205344248 | 165.00 | -32.09 |
ROSMAP | ENST00000367156 | 205344134 | 205344458 | hsa-miR-3191-3p | chr1:205344351-205344358 | 8mer-1a | chr1:205344336-205344358 | 169.00 | -28.71 |
ROSMAP | ENST00000539253 | 205348376 | 205348590 | hsa-miR-10b-3p | chr1:205348573-205348580 | 8mer-1a | chr1:205348569-205348589 | 157.00 | -19.39 |
ROSMAP | ENST00000539253 | 205348376 | 205348590 | hsa-miR-561-5p | chr1:205348568-205348575 | 8mer-1a | chr1:205348557-205348580 | 151.00 | -14.97 |
ROSMAP | ENST00000539253 | 205348376 | 205348590 | hsa-miR-6889-5p | chr1:205348426-205348433 | 8mer-1a | chr1:205348409-205348433 | 159.00 | -29.83 |
ROSMAP | ENST00000367156 | 205344134 | 205344458 | hsa-miR-3667-3p | chr1:205344296-205344303 | 8mer-1a | chr1:205344281-205344303 | 141.00 | -14.04 |
ROSMAP | ENST00000367156 | 205344134 | 205344458 | hsa-miR-4271 | chr1:205344239-205344246 | 8mer-1a | chr1:205344229-205344248 | 165.00 | -32.09 |
ROSMAP | ENST00000367156 | 205344134 | 205344458 | hsa-miR-4449 | chr1:205344398-205344405 | 8mer-1a | chr1:205344385-205344405 | 170.00 | -36.68 |
ROSMAP | ENST00000539253 | 205348376 | 205348590 | hsa-miR-3650 | chr1:205348414-205348421 | 8mer-1a | chr1:205348409-205348433 | 159.00 | -29.83 |
ROSMAP | ENST00000367156 | 205344134 | 205344458 | hsa-miR-2277-3p | chr1:205344257-205344264 | 8mer-1a | chr1:205344241-205344264 | 153.00 | -23.73 |
ROSMAP | ENST00000367156 | 205344134 | 205344458 | hsa-miR-6891-3p | chr1:205344273-205344280 | 8mer-1a | chr1:205344260-205344280 | 147.00 | -12.20 |
ROSMAP | ENST00000539253 | 205348376 | 205348590 | hsa-miR-5004-5p | chr1:205348582-205348589 | 8mer-1a | chr1:205348569-205348589 | 157.00 | -19.39 |
ROSMAP | ENST00000367156 | 205344134 | 205344458 | hsa-miR-6780b-5p | chr1:205344239-205344246 | 8mer-1a | chr1:205344229-205344248 | 165.00 | -32.09 |
ROSMAP | ENST00000539253 | 205348376 | 205348590 | hsa-miR-4664-5p | chr1:205348472-205348479 | 8mer-1a | chr1:205348456-205348480 | 157.00 | -24.95 |
ROSMAP | ENST00000367156 | 205344134 | 205344458 | hsa-miR-6893-3p | chr1:205344292-205344299 | 8mer-1a | chr1:205344275-205344299 | 157.00 | -21.90 |
ROSMAP | ENST00000367156 | 205344134 | 205344458 | hsa-miR-542-3p | chr1:205344259-205344266 | 8mer-1a | chr1:205344257-205344278 | 150.00 | -20.85 |
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SNVs in the skipped exons for KLHDC8A |
- 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 KLHDC8A |
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 KLHDC8A |
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 KLHDC8A |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for KLHDC8A |
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 KLHDC8A |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |