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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 KIAA0040 |
Gene summary |
Gene information | Gene symbol | KIAA0040 | Gene ID | 9674 |
Gene name | KIAA0040 | |
Synonyms | - | |
Cytomap | 1q25.1 | |
Type of gene | protein-coding | |
Description | uncharacterized protein KIAA0040 | |
Modification date | 20200313 | |
UniProtAcc | A0A384DVV8, Q15053, | |
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 KIAA0040 |
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 |
TC | UP | ENST00000545251.6 | KIAA0040-203:protein_coding:KIAA0040 | 8.427458e+00 | 1.544184e+00 | 3.094597e-04 | 3.942215e-03 |
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 KIAA0040 |
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_111444 | chr1 | 175166562:175166737:175176400:175176474:175177611:175177684 | 175176400:175176474 |
exon_skip_15709 | chr1 | 175166562:175166737:175177611:175177684:175192640:175192716 | 175177611:175177684 |
exon_skip_163027 | chr1 | 175177611:175177684:175192640:175192716:175192860:175192999 | 175192640:175192716 |
exon_skip_220754 | chr1 | 175166562:175166737:175177611:175177684:175192860:175192943 | 175177611:175177684 |
exon_skip_245502 | chr1 | 175177611:175177684:175192640:175192716:175192860:175192943 | 175192640:175192716 |
exon_skip_254399 | chr1 | 175166562:175166737:175177611:175177684:175192640:175192754 | 175177611:175177684 |
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 KIAA0040 |
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 |
ENST00000444639 | 175177611 | 175177684 | 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 |
ENST00000444639 | 175177611 | 175177684 | 3UTR-3UTR |
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 |
ENST00000444639 | 175177611 | 175177684 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for KIAA0040 |
p-ENSG00000235750_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 KIAA0040 |
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 | ENST00000444639 | 175177611 | 175177684 | hsa-miR-620 | chr1:175177664-175177671 | 8mer-1a | chr1:175177651-175177671 | 157.00 | -19.15 |
Mayo | ENST00000444639 | 175177611 | 175177684 | hsa-miR-1270 | chr1:175177664-175177671 | 8mer-1a | chr1:175177651-175177671 | 157.00 | -19.15 |
Mayo | ENST00000444639 | 175177611 | 175177684 | hsa-miR-330-3p | chr1:175177642-175177649 | 8mer-1a | chr1:175177633-175177652 | 155.00 | -14.85 |
Mayo | ENST00000444639 | 175177611 | 175177684 | hsa-miR-1236-5p | chr1:175177632-175177639 | 8mer-1a | chr1:175177621-175177642 | 158.00 | -20.48 |
Mayo | ENST00000444639 | 175177611 | 175177684 | hsa-miR-12131 | chr1:175177665-175177672 | 8mer-1a | chr1:175177653-175177672 | 142.00 | -13.93 |
MSBB | ENST00000444639 | 175177611 | 175177684 | hsa-miR-620 | chr1:175177664-175177671 | 8mer-1a | chr1:175177651-175177671 | 157.00 | -19.15 |
MSBB | ENST00000444639 | 175177611 | 175177684 | hsa-miR-1270 | chr1:175177664-175177671 | 8mer-1a | chr1:175177651-175177671 | 157.00 | -19.15 |
MSBB | ENST00000444639 | 175177611 | 175177684 | hsa-miR-330-3p | chr1:175177642-175177649 | 8mer-1a | chr1:175177633-175177652 | 155.00 | -14.85 |
MSBB | ENST00000444639 | 175177611 | 175177684 | hsa-miR-1236-5p | chr1:175177632-175177639 | 8mer-1a | chr1:175177621-175177642 | 158.00 | -20.48 |
MSBB | ENST00000444639 | 175177611 | 175177684 | hsa-miR-12131 | chr1:175177665-175177672 | 8mer-1a | chr1:175177653-175177672 | 142.00 | -13.93 |
ROSMAP | ENST00000444639 | 175177611 | 175177684 | hsa-miR-620 | chr1:175177664-175177671 | 8mer-1a | chr1:175177651-175177671 | 157.00 | -19.15 |
ROSMAP | ENST00000444639 | 175177611 | 175177684 | hsa-miR-1270 | chr1:175177664-175177671 | 8mer-1a | chr1:175177651-175177671 | 157.00 | -19.15 |
ROSMAP | ENST00000444639 | 175177611 | 175177684 | hsa-miR-330-3p | chr1:175177642-175177649 | 8mer-1a | chr1:175177633-175177652 | 155.00 | -14.85 |
ROSMAP | ENST00000444639 | 175177611 | 175177684 | hsa-miR-1236-5p | chr1:175177632-175177639 | 8mer-1a | chr1:175177621-175177642 | 158.00 | -20.48 |
ROSMAP | ENST00000444639 | 175177611 | 175177684 | hsa-miR-12131 | chr1:175177665-175177672 | 8mer-1a | chr1:175177653-175177672 | 142.00 | -13.93 |
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SNVs in the skipped exons for KIAA0040 |
- 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 KIAA0040 |
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 KIAA0040 |
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 KIAA0040 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for KIAA0040 |
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 KIAA0040 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |