|
Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for KAT5 |
Gene summary |
Gene information | Gene symbol | KAT5 | Gene ID | 10524 |
Gene name | lysine acetyltransferase 5 | |
Synonyms | ESA1|HTATIP|HTATIP1|PLIP|TIP|TIP60|ZC2HC5|cPLA2 | |
Cytomap | 11q13.1 | |
Type of gene | protein-coding | |
Description | histone acetyltransferase KAT560 kDa Tat-interactive proteinHIV-1 Tat interactive protein, 60kDaK(lysine) acetyltransferase 5K-acetyltransferase 5Tat interacting protein, 60kDacPLA(2)-interacting proteincPLA2 interacting proteinhistone acetyltrans | |
Modification date | 20180523 | |
UniProtAcc | Q92993 | |
Context | PubMed: KAT5 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
KAT5 | GO:0006978 | DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator | 14966270 |
KAT5 | GO:0010212 | response to ionizing radiation | 18397884 |
KAT5 | GO:0016573 | histone acetylation | 10966108 |
KAT5 | GO:0032703 | negative regulation of interleukin-2 production | 17360565 |
KAT5 | GO:0045892 | negative regulation of transcription, DNA-templated | 17360565 |
KAT5 | GO:0045893 | positive regulation of transcription, DNA-templated | 14966270 |
KAT5 | GO:0071392 | cellular response to estradiol stimulus | 23637611 |
KAT5 | GO:1901985 | positive regulation of protein acetylation | 24012345 |
Top |
Exon skipping events across known transcript of Ensembl for KAT5 from UCSC genome browser |
Skipped exons in TCGA and GTEx 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. |
Top |
Gene isoform structures and expression levels for KAT5 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for KAT5 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_61256 | 11 | 65480392:65480526:65480818:65480974:65481063:65481135 | 65480818:65480974 | ENSG00000172977.8 | ENST00000530605.1 |
exon_skip_61261 | 11 | 65480392:65480529:65480818:65480974:65481063:65481135 | 65480818:65480974 | ENSG00000172977.8 | ENST00000377046.3,ENST00000525204.1,ENST00000531880.1,ENST00000341318.4 |
exon_skip_61264 | 11 | 65482291:65482381:65484137:65484278:65484359:65484453 | 65484137:65484278 | ENSG00000172977.8 | ENST00000377046.3,ENST00000352980.4,ENST00000534650.1,ENST00000530446.1,ENST00000341318.4 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for KAT5 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_61256 | 11 | 65480392:65480526:65480818:65480974:65481063:65481135 | 65480818:65480974 | ENSG00000172977.8 | ENST00000530605.1 |
exon_skip_61261 | 11 | 65480392:65480529:65480818:65480974:65481063:65481135 | 65480818:65480974 | ENSG00000172977.8 | ENST00000377046.3,ENST00000341318.4,ENST00000531880.1,ENST00000525204.1 |
exon_skip_61264 | 11 | 65482291:65482381:65484137:65484278:65484359:65484453 | 65484137:65484278 | ENSG00000172977.8 | ENST00000377046.3,ENST00000352980.4,ENST00000341318.4,ENST00000530446.1,ENST00000534650.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for KAT5 |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000377046 | 65480818 | 65480974 | In-frame |
ENST00000377046 | 65484137 | 65484278 | In-frame |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000377046 | 65480818 | 65480974 | In-frame |
ENST00000377046 | 65484137 | 65484278 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for KAT5 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
Loci of skipped exons in TCGA 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 |
ENST00000377046 | 2254 | 513 | 65480818 | 65480974 | 558 | 713 | 95 | 147 |
ENST00000377046 | 2254 | 513 | 65484137 | 65484278 | 1203 | 1343 | 310 | 357 |
Loci of skipped exons in GTEx 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 |
ENST00000377046 | 2254 | 513 | 65480818 | 65480974 | 558 | 713 | 95 | 147 |
ENST00000377046 | 2254 | 513 | 65484137 | 65484278 | 1203 | 1343 | 310 | 357 |
Lost protein functional features of individual exon skipping events in TCGA. |
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 GTEx. |
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 |
Top |
SNVs in the skipped exons for KAT5 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
KAT5_THCA_exon_skip_61264_psi_boxplot.png |
- Non-synonymous mutations located in the skipped exons in TCGA. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
THCA | TCGA-E8-A432-01 | exon_skip_61264 | 65484138 | 65484278 | 65484145 | 65484145 | Frame_Shift_Del | C | - | p.S346fs |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
NUGC3_STOMACH | 65480819 | 65480974 | 65480835 | 65480835 | Missense_Mutation | C | A | p.A101D |
IGROV1_OVARY | 65480819 | 65480974 | 65480912 | 65480912 | Missense_Mutation | G | A | p.G127S |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KAT5 |
sQTL information located at the skipped exons. |
Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KAT5 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KAT5 |
Top |
RelatedDrugs for KAT5 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for KAT5 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |