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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 KMT5C |
Gene summary |
Gene information | Gene symbol | KMT5C | Gene ID | 84787 |
Gene name | lysine methyltransferase 5C | |
Synonyms | SUV420H2|Suv4-20h2 | |
Cytomap | 19q13.42 | |
Type of gene | protein-coding | |
Description | histone-lysine N-methyltransferase KMT5Chistone-lysine N-methyltransferase SUV420H2lysine (K)-specific methyltransferase 5Clysine N-methyltransferase 5Clysine-specific methyltransferase 5Csu(var)4-20 homolog 2suppressor of variegation 4-20 homolog 2 | |
Modification date | 20200313 | |
UniProtAcc | A0A0D9SF94, Q86Y97, | |
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 KMT5C |
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 KMT5C |
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_16257 | chr19 | 55341841:55342046:55342215:55342380:55342742:55342785 | 55342215:55342380 |
exon_skip_192733 | chr19 | 55341913:55342046:55342215:55342380:55342742:55342851 | 55342215:55342380 |
exon_skip_218902 | chr19 | 55343724:55343843:55343978:55343997:55346213:55346349 | 55343978:55343997 |
exon_skip_252724 | chr19 | 55341913:55342046:55342215:55342380:55342742:55342785 | 55342215:55342380 |
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 |
exon_skip_252724 | Mayo_CB | 3.993902e-01 | 5.273684e-01 | -1.279782e-01 | 3.842978e-06 |
exon_skip_252724 | Mayo_TC | 5.709091e-01 | 6.800000e-01 | -1.090909e-01 | 7.058829e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for KMT5C |
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 |
ENST00000255613 | 55342215 | 55342380 | Frame-shift |
ENST00000255613 | 55343978 | 55343997 | 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 |
ENST00000255613 | 55342215 | 55342380 | Frame-shift |
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 |
ENST00000255613 | 55342215 | 55342380 | Frame-shift |
ENST00000255613 | 55343978 | 55343997 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for KMT5C |
p-ENSG00000133247_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 KMT5C |
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 KMT5C |
- 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 KMT5C |
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 KMT5C |
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 KMT5C |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | RBM6 | exon_skip_252724 | -4.517224e-01 | 2.562318e-09 |
CB | SAMD4A | exon_skip_252724 | -4.857485e-01 | 9.844843e-11 |
CB | CNOT4 | exon_skip_252724 | -4.588694e-01 | 1.330680e-09 |
CB | PCBP1 | exon_skip_252724 | -4.012806e-01 | 1.739010e-07 |
CB | HNRNPA2B1 | exon_skip_252724 | -4.248688e-01 | 2.636271e-08 |
CB | PTBP1 | exon_skip_252724 | -4.448202e-01 | 4.756478e-09 |
CB | RBM4 | exon_skip_252724 | -7.365127e-01 | 2.814139e-28 |
CB | RBM4B | exon_skip_252724 | -5.369295e-01 | 3.529452e-13 |
TC | RBM4 | exon_skip_252724 | -4.303375e-01 | 6.575130e-08 |
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RelatedDrugs for KMT5C |
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 KMT5C |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |