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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for KLHL22 |
 Gene summary |
| Gene information | Gene symbol | KLHL22 | Gene ID | 84861 |
| Gene name | kelch like family member 22 | |
| Synonyms | KELCHL | |
| Cytomap | 22q11.21 | |
| Type of gene | protein-coding | |
| Description | kelch-like protein 22kelch-like 22 | |
| Modification date | 20180523 | |
| UniProtAcc | Q53GT1 | |
| Context | PubMed: KLHL22 [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 |
| KLHL22 | GO:0006513 | protein monoubiquitination | 23455478 |
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Exon skipping events across known transcript of Ensembl for KLHL22 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 KLHL22 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for KLHL22 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_367619 | 22 | 20812094:20812287:20819144:20819863:20825636:20825802 | 20819144:20819863 | ENSG00000099910.12 | ENST00000479601.1,ENST00000328879.4 |
| exon_skip_367620 | 22 | 20812094:20812287:20819144:20819863:20843271:20843499 | 20819144:20819863 | ENSG00000099910.12 | ENST00000440659.2 |
| exon_skip_367628 | 22 | 20819603:20819863:20825636:20825802:20843271:20843499 | 20825636:20825802 | ENSG00000099910.12 | ENST00000443285.1,ENST00000444967.1,ENST00000479601.1,ENST00000328879.4,ENST00000458248.1 |
| exon_skip_367629 | 22 | 20819603:20819863:20825636:20825802:20850046:20850079 | 20825636:20825802 | ENSG00000099910.12 | ENST00000451553.1 |
| exon_skip_367633 | 22 | 20819603:20819863:20843271:20843531:20850046:20850079 | 20843271:20843531 | ENSG00000099910.12 | ENST00000440659.2 |
| exon_skip_367635 | 22 | 20819828:20819910:20825636:20825802:20843271:20843499 | 20825636:20825802 | ENSG00000099910.12 | ENST00000431430.1 |
| exon_skip_367639 | 22 | 20825746:20825802:20843271:20843499:20850046:20850089 | 20843271:20843499 | ENSG00000099910.12 | ENST00000458248.1 |
| exon_skip_367640 | 22 | 20825746:20825802:20843271:20843531:20850046:20850089 | 20843271:20843531 | ENSG00000099910.12 | ENST00000479601.1,ENST00000431430.1,ENST00000328879.4 |
| exon_skip_367644 | 22 | 20843271:20843531:20847434:20847504:20850046:20850079 | 20847434:20847504 | ENSG00000099910.12 | ENST00000443285.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KLHL22 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_367619 | 22 | 20812094:20812287:20819144:20819863:20825636:20825802 | 20819144:20819863 | ENSG00000099910.12 | ENST00000328879.4,ENST00000479601.1 |
| exon_skip_367620 | 22 | 20812094:20812287:20819144:20819863:20843271:20843499 | 20819144:20819863 | ENSG00000099910.12 | ENST00000440659.2 |
| exon_skip_367628 | 22 | 20819603:20819863:20825636:20825802:20843271:20843499 | 20825636:20825802 | ENSG00000099910.12 | ENST00000328879.4,ENST00000479601.1,ENST00000444967.1,ENST00000458248.1,ENST00000443285.1 |
| exon_skip_367629 | 22 | 20819603:20819863:20825636:20825802:20850046:20850079 | 20825636:20825802 | ENSG00000099910.12 | ENST00000451553.1 |
| exon_skip_367633 | 22 | 20819603:20819863:20843271:20843531:20850046:20850079 | 20843271:20843531 | ENSG00000099910.12 | ENST00000440659.2 |
| exon_skip_367635 | 22 | 20819828:20819910:20825636:20825802:20843271:20843499 | 20825636:20825802 | ENSG00000099910.12 | ENST00000431430.1 |
| exon_skip_367639 | 22 | 20825746:20825802:20843271:20843499:20850046:20850089 | 20843271:20843499 | ENSG00000099910.12 | ENST00000458248.1 |
| exon_skip_367640 | 22 | 20825746:20825802:20843271:20843531:20850046:20850089 | 20843271:20843531 | ENSG00000099910.12 | ENST00000328879.4,ENST00000479601.1,ENST00000431430.1 |
| exon_skip_367644 | 22 | 20843271:20843531:20847434:20847504:20850046:20850079 | 20847434:20847504 | ENSG00000099910.12 | ENST00000443285.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for KLHL22 |
| 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 |
| ENST00000328879 | 20843271 | 20843531 | 3UTR-3CDS |
| ENST00000328879 | 20819144 | 20819863 | Frame-shift |
| ENST00000328879 | 20825636 | 20825802 | Frame-shift |
| 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 |
| ENST00000328879 | 20843271 | 20843531 | 3UTR-3CDS |
| ENST00000328879 | 20819144 | 20819863 | Frame-shift |
| ENST00000328879 | 20825636 | 20825802 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for KLHL22 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for KLHL22 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_367619 exon_skip_367620 | 20819145 | 20819863 | 20819608 | 20819608 | Frame_Shift_Del | C | - | p.A217fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_367619 exon_skip_367620 | 20819145 | 20819863 | 20819723 | 20819724 | Frame_Shift_Ins | - | T | p.I178fs |
| SKCM | TCGA-EB-A3XB-01 | exon_skip_367619 exon_skip_367620 | 20819145 | 20819863 | 20819167 | 20819167 | Nonsense_Mutation | G | A | p.R364* |
| SKCM | TCGA-EB-A3XB-01 | exon_skip_367619 exon_skip_367620 | 20819145 | 20819863 | 20819167 | 20819167 | Nonsense_Mutation | G | A | p.R364X |
| SKCM | TCGA-EE-A2MM-06 | exon_skip_367619 exon_skip_367620 | 20819145 | 20819863 | 20819167 | 20819167 | Nonsense_Mutation | G | A | p.R364* |
| SKCM | TCGA-EE-A2MM-06 | exon_skip_367619 exon_skip_367620 | 20819145 | 20819863 | 20819167 | 20819167 | Nonsense_Mutation | G | A | p.R364X |
| SKCM | TCGA-FR-A726-01 | exon_skip_367619 exon_skip_367620 | 20819145 | 20819863 | 20819167 | 20819167 | Nonsense_Mutation | G | A | p.R364* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_367619 exon_skip_367620 | 20819145 | 20819863 | 20819167 | 20819167 | Nonsense_Mutation | G | A | p.R364* |
| LUSC | TCGA-85-6175-01 | exon_skip_367619 exon_skip_367620 | 20819145 | 20819863 | 20819559 | 20819559 | Nonsense_Mutation | G | T | p.S233* |
| LUSC | TCGA-21-1070-01 | exon_skip_367619 exon_skip_367620 | 20819145 | 20819863 | 20819581 | 20819581 | Nonsense_Mutation | G | A | p.Q226* |
| - 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 |
| EN_ENDOMETRIUM | 20819145 | 20819863 | 20819202 | 20819202 | Missense_Mutation | T | C | p.Y352C |
| F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20819145 | 20819863 | 20819227 | 20819227 | Missense_Mutation | T | C | p.I344V |
| NCIH510_LUNG | 20819145 | 20819863 | 20819229 | 20819229 | Missense_Mutation | C | A | p.G343V |
| NCIH510_LUNG | 20819145 | 20819863 | 20819229 | 20819231 | Missense_Mutation | CCC | AAA | p.342_343QG>HF |
| NCIH510_LUNG | 20819145 | 20819863 | 20819230 | 20819230 | Missense_Mutation | C | A | p.G343C |
| NCIH510_LUNG | 20819145 | 20819863 | 20819231 | 20819231 | Missense_Mutation | C | A | p.Q342H |
| CHP134_AUTONOMIC_GANGLIA | 20819145 | 20819863 | 20819260 | 20819260 | Missense_Mutation | C | G | p.A333P |
| HEC108_ENDOMETRIUM | 20819145 | 20819863 | 20819340 | 20819340 | Missense_Mutation | A | G | p.I306T |
| EFO27_OVARY | 20819145 | 20819863 | 20819359 | 20819359 | Missense_Mutation | C | T | p.V300I |
| NCIH1869_LUNG | 20819145 | 20819863 | 20819377 | 20819377 | Missense_Mutation | G | A | p.R294W |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20819145 | 20819863 | 20819395 | 20819395 | Missense_Mutation | T | A | p.S288C |
| HCC2935_LUNG | 20819145 | 20819863 | 20819441 | 20819441 | Missense_Mutation | G | C | p.S272R |
| KPL1_BREAST | 20819145 | 20819863 | 20819477 | 20819477 | Missense_Mutation | C | A | p.K260N |
| MFM223_BREAST | 20819145 | 20819863 | 20819605 | 20819605 | Missense_Mutation | G | C | p.L218V |
| MCC13_SKIN | 20819145 | 20819863 | 20819682 | 20819682 | Missense_Mutation | G | A | p.P192L |
| COLO792_SKIN | 20819145 | 20819863 | 20819788 | 20819788 | Missense_Mutation | G | A | p.R157W |
| COLO792_SKIN | 20819145 | 20819863 | 20819788 | 20819789 | Missense_Mutation | GG | AA | p.R157W |
| GMS10_CENTRAL_NERVOUS_SYSTEM | 20819145 | 20819863 | 20819817 | 20819817 | Missense_Mutation | A | T | p.V147E |
| HEC1A_ENDOMETRIUM | 20825637 | 20825802 | 20825681 | 20825681 | Missense_Mutation | G | T | p.L117M |
| SKN3_UPPER_AERODIGESTIVE_TRACT | 20825637 | 20825802 | 20825747 | 20825747 | Missense_Mutation | C | A | p.G95C |
| SNUC4_LARGE_INTESTINE | 20843272 | 20843531 | 20843305 | 20843305 | Missense_Mutation | C | T | p.R65H |
| SNUC4_LARGE_INTESTINE | 20843272 | 20843499 | 20843305 | 20843305 | Missense_Mutation | C | T | p.R65H |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 20843272 | 20843531 | 20843357 | 20843357 | Missense_Mutation | T | C | p.I48V |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 20843272 | 20843499 | 20843357 | 20843357 | Missense_Mutation | T | C | p.I48V |
| RKO_LARGE_INTESTINE | 20843272 | 20843531 | 20843360 | 20843360 | Missense_Mutation | C | T | p.G47R |
| RKO_LARGE_INTESTINE | 20843272 | 20843499 | 20843360 | 20843360 | Missense_Mutation | C | T | p.G47R |
| FU97_STOMACH | 20843272 | 20843531 | 20843369 | 20843369 | Missense_Mutation | G | A | p.R44W |
| FU97_STOMACH | 20843272 | 20843499 | 20843369 | 20843369 | Missense_Mutation | G | A | p.R44W |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 20843272 | 20843531 | 20843440 | 20843440 | Missense_Mutation | G | T | p.P20Q |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 20843272 | 20843499 | 20843440 | 20843440 | Missense_Mutation | G | T | p.P20Q |
| OCUBM_BREAST | 20843272 | 20843531 | 20843459 | 20843459 | Missense_Mutation | G | C | p.P14A |
| OCUBM_BREAST | 20843272 | 20843499 | 20843459 | 20843459 | Missense_Mutation | G | C | p.P14A |
| CW2_LARGE_INTESTINE | 20825637 | 20825802 | 20825801 | 20825801 | Splice_Site | C | A | p.G77* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KLHL22 |
| 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 KLHL22 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KLHL22 |
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RelatedDrugs for KLHL22 |
| 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 KLHL22 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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