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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 KIAA1549L |
Gene summary |
Gene information | Gene symbol | KIAA1549L | Gene ID | 25758 |
Gene name | KIAA1549 like | |
Synonyms | C11orf41|C11orf69|G2 | |
Cytomap | 11p13 | |
Type of gene | protein-coding | |
Description | UPF0606 protein KIAA1549LUPF0606 protein C11orf41uncharacterized protein C11orf69 | |
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 KIAA1549L |
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 |
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 KIAA1549L |
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_133052 | chr11 | 33583338:33583501:33591237:33591421:33598820:33598947 | 33591237:33591421 |
exon_skip_238632 | chr11 | 33618533:33618662:33645686:33646036:33656012:33656109 | 33645686:33646036 |
exon_skip_287267 | chr11 | 33574702:33574873:33583338:33583501:33591237:33591421 | 33583338:33583501 |
exon_skip_287491 | chr11 | 33583383:33583501:33591237:33591421:33598820:33598947 | 33591237:33591421 |
exon_skip_34854 | chr11 | 33541802:33542146:33544767:33545378:33547764:33547879 | 33544767:33545378 |
exon_skip_62119 | chr11 | 33591237:33591421:33598820:33598947:33606641:33606822 | 33598820:33598947 |
exon_skip_63639 | chr11 | 33656012:33656109:33658750:33658898:33660863:33661014 | 33658750:33658898 |
exon_skip_87903 | chr11 | 33583383:33583501:33591237:33591421:33598820:33599494 | 33591237:33591421 |
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 KIAA1549L |
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 |
ENST00000321505 | 33591237 | 33591421 | Frame-shift |
ENST00000321505 | 33598820 | 33598947 | Frame-shift |
ENST00000321505 | 33658750 | 33658898 | Frame-shift |
ENST00000321505 | 33645686 | 33646036 | 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 |
ENST00000321505 | 33591237 | 33591421 | Frame-shift |
ENST00000321505 | 33598820 | 33598947 | Frame-shift |
ENST00000321505 | 33658750 | 33658898 | Frame-shift |
ENST00000321505 | 33645686 | 33646036 | 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 |
ENST00000321505 | 33583338 | 33583501 | Frame-shift |
ENST00000321505 | 33591237 | 33591421 | Frame-shift |
ENST00000321505 | 33598820 | 33598947 | Frame-shift |
ENST00000321505 | 33658750 | 33658898 | Frame-shift |
ENST00000321505 | 33645686 | 33646036 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KIAA1549L |
p-ENSG00000110427_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 |
ENST00000321505 | 11695 | 1849 | 33645686 | 33646036 | 4700 | 5049 | 1506 | 1623 |
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 |
ENST00000321505 | 11695 | 1849 | 33645686 | 33646036 | 4700 | 5049 | 1506 | 1623 |
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 |
ENST00000321505 | 11695 | 1849 | 33645686 | 33646036 | 4700 | 5049 | 1506 | 1623 |
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 |
Q6ZVL6 | 1506 | 1623 | 1230 | 1849 | Alternative sequence | ID=VSP_034447;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q6ZVL6 | 1506 | 1623 | 1 | 1849 | Chain | ID=PRO_0000274780;Note=UPF0606 protein KIAA1549L |
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 |
Q6ZVL6 | 1506 | 1623 | 1230 | 1849 | Alternative sequence | ID=VSP_034447;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q6ZVL6 | 1506 | 1623 | 1 | 1849 | Chain | ID=PRO_0000274780;Note=UPF0606 protein KIAA1549L |
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 |
Q6ZVL6 | 1506 | 1623 | 1230 | 1849 | Alternative sequence | ID=VSP_034447;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q6ZVL6 | 1506 | 1623 | 1 | 1849 | Chain | ID=PRO_0000274780;Note=UPF0606 protein KIAA1549L |
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3'-UTR located exon skipping events that lost miRNA binding sites in KIAA1549L |
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 KIAA1549L |
- 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 KIAA1549L |
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 KIAA1549L |
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 KIAA1549L |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
HCC | RBM3 | exon_skip_155474 | -4.775459e-01 | 2.648649e-15 |
IFG | RBM3 | exon_skip_155474 | -5.806134e-01 | 1.198056e-03 |
IFG | RBM24 | exon_skip_155474 | 4.246113e-01 | 2.431131e-02 |
IFG | ESRP2 | exon_skip_155474 | 5.250288e-01 | 4.121849e-03 |
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RelatedDrugs for KIAA1549L |
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 KIAA1549L |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |