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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 KLHL30 |
Gene summary |
Gene information | Gene symbol | KLHL30 | Gene ID | 377007 |
Gene name | kelch like family member 30 | |
Synonyms | - | |
Cytomap | 2q37.3 | |
Type of gene | protein-coding | |
Description | kelch-like protein 30kelch-like 30 | |
Modification date | 20180523 | |
UniProtAcc | Q0D2K2 | |
Context | PubMed: KLHL30 [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 |
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Exon skipping events across known transcript of Ensembl for KLHL30 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. |
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Gene isoform structures and expression levels for KLHL30 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for KLHL30 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_335436 | 2 | 239049325:239050169:239051439:239051572:239053542:239053629 | 239051439:239051572 | ENSG00000168427.7 | ENST00000409223.1,ENST00000305959.4 |
exon_skip_335439 | 2 | 239051439:239051572:239053542:239053629:239054317:239054473 | 239053542:239053629 | ENSG00000168427.7 | ENST00000409223.1,ENST00000305959.4 |
exon_skip_335440 | 2 | 239056474:239056663:239057647:239057793:239059454:239061547 | 239057647:239057793 | ENSG00000168427.7 | ENST00000409223.1,ENST00000305959.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KLHL30 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_335436 | 2 | 239049325:239050169:239051439:239051572:239053542:239053629 | 239051439:239051572 | ENSG00000168427.7 | ENST00000409223.1,ENST00000305959.4 |
exon_skip_335439 | 2 | 239051439:239051572:239053542:239053629:239054317:239054473 | 239053542:239053629 | ENSG00000168427.7 | ENST00000409223.1,ENST00000305959.4 |
exon_skip_335440 | 2 | 239056474:239056663:239057647:239057793:239059454:239061547 | 239057647:239057793 | ENSG00000168427.7 | ENST00000409223.1,ENST00000305959.4 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for KLHL30 |
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 |
ENST00000409223 | 239051439 | 239051572 | Frame-shift |
ENST00000409223 | 239057647 | 239057793 | Frame-shift |
ENST00000409223 | 239053542 | 239053629 | 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 |
ENST00000409223 | 239051439 | 239051572 | Frame-shift |
ENST00000409223 | 239057647 | 239057793 | Frame-shift |
ENST00000409223 | 239053542 | 239053629 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KLHL30 |
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 |
ENST00000409223 | 3743 | 578 | 239053542 | 239053629 | 1015 | 1101 | 302 | 331 |
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 |
ENST00000409223 | 3743 | 578 | 239053542 | 239053629 | 1015 | 1101 | 302 | 331 |
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 |
Q0D2K2 | 302 | 331 | 1 | 578 | Chain | ID=PRO_0000274594;Note=Kelch-like protein 30 |
Q0D2K2 | 302 | 331 | 270 | 326 | Repeat | Note=Kelch 1 |
Q0D2K2 | 302 | 331 | 327 | 377 | Repeat | Note=Kelch 2 |
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 |
Q0D2K2 | 302 | 331 | 1 | 578 | Chain | ID=PRO_0000274594;Note=Kelch-like protein 30 |
Q0D2K2 | 302 | 331 | 270 | 326 | Repeat | Note=Kelch 1 |
Q0D2K2 | 302 | 331 | 327 | 377 | Repeat | Note=Kelch 2 |
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SNVs in the skipped exons for KLHL30 |
- 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. |
- 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 |
BRCA | TCGA-BH-A18P-01 | exon_skip_335440 | 239057648 | 239057793 | 239057647 | 239057647 | Splice_Site | G | A | e6-1 |
- Depth of coverage in the three exons composing exon skipping event |
Depth of coverage in three exons | Mutation description |
- 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 |
OUMS23_LARGE_INTESTINE | 239051440 | 239051572 | 239051449 | 239051449 | Missense_Mutation | G | A | p.A262T |
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 239051440 | 239051572 | 239051527 | 239051527 | Missense_Mutation | C | T | p.P288S |
NCIH2023_LUNG | 239053543 | 239053629 | 239053600 | 239053600 | Missense_Mutation | C | A | p.A322E |
IGR1_SKIN | 239057648 | 239057793 | 239057720 | 239057720 | Missense_Mutation | G | A | p.G471E |
KNS60_CENTRAL_NERVOUS_SYSTEM | 239057648 | 239057793 | 239057777 | 239057777 | Missense_Mutation | C | G | p.A490G |
OC316_OVARY | 239051440 | 239051572 | 239051494 | 239051494 | Nonsense_Mutation | C | T | p.Q277* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KLHL30 |
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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KLHL30 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KLHL30 |
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RelatedDrugs for KLHL30 |
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 |
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RelatedDiseases for KLHL30 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |