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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 KLHL2 |
 Gene summary |
| Gene information | Gene symbol | KLHL2 | Gene ID | 11275 |
| Gene name | kelch like family member 2 | |
| Synonyms | ABP-KELCH|MAV|MAYVEN | |
| Cytomap | 4q32.3 | |
| Type of gene | protein-coding | |
| Description | kelch-like protein 2actin-binding protein Mayvenkelch-like 2, Mayven | |
| Modification date | 20180522 | |
| UniProtAcc | O95198 | |
| Context | PubMed: KLHL2 [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 KLHL2 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 KLHL2 |
| 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 KLHL2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_427000 | 4 | 166141152:166141211:166145089:166145209:166149958:166150065 | 166145089:166145209 | ENSG00000109466.9 | ENST00000511305.1 |
| exon_skip_427001 | 4 | 166141152:166141211:166149958:166150065:166159929:166159983 | 166149958:166150065 | ENSG00000109466.9 | ENST00000509704.1,ENST00000226725.6,ENST00000514860.1 |
| exon_skip_427002 | 4 | 166141152:166141211:166149958:166150065:166184348:166184433 | 166149958:166150065 | ENSG00000109466.9 | ENST00000421009.2 |
| exon_skip_427003 | 4 | 166141152:166141211:166159929:166160051:166184348:166184433 | 166159929:166160051 | ENSG00000109466.9 | ENST00000506824.1,ENST00000538127.1 |
| exon_skip_427004 | 4 | 166149958:166150065:166159929:166160051:166184348:166184433 | 166159929:166160051 | ENSG00000109466.9 | ENST00000509704.1,ENST00000226725.6,ENST00000514860.1 |
| exon_skip_427006 | 4 | 166149958:166150065:166184348:166184511:166215510:166215620 | 166184348:166184511 | ENSG00000109466.9 | ENST00000421009.2 |
| exon_skip_427007 | 4 | 166159929:166160051:166184348:166184511:166215510:166215620 | 166184348:166184511 | ENSG00000109466.9 | ENST00000506824.1,ENST00000226725.6,ENST00000514860.1,ENST00000538127.1 |
| exon_skip_427008 | 4 | 166220658:166220808:166226759:166226877:166231704:166231902 | 166226759:166226877 | ENSG00000109466.9 | ENST00000506541.1,ENST00000506824.1,ENST00000226725.6,ENST00000514860.1,ENST00000421009.2,ENST00000506761.1,ENST00000538127.1 |
| exon_skip_427010 | 4 | 166231704:166231902:166232615:166232717:166234389:166234518 | 166232615:166232717 | ENSG00000109466.9 | ENST00000506824.1,ENST00000226725.6,ENST00000514860.1,ENST00000421009.2,ENST00000506761.1,ENST00000509028.1,ENST00000538127.1 |
| exon_skip_427011 | 4 | 166239016:166239121:166242463:166242527:166243183:166243610 | 166242463:166242527 | ENSG00000109466.9 | ENST00000509028.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KLHL2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_427000 | 4 | 166141152:166141211:166145089:166145209:166149958:166150065 | 166145089:166145209 | ENSG00000109466.9 | ENST00000511305.1 |
| exon_skip_427001 | 4 | 166141152:166141211:166149958:166150065:166159929:166159983 | 166149958:166150065 | ENSG00000109466.9 | ENST00000226725.6,ENST00000509704.1,ENST00000514860.1 |
| exon_skip_427002 | 4 | 166141152:166141211:166149958:166150065:166184348:166184433 | 166149958:166150065 | ENSG00000109466.9 | ENST00000421009.2 |
| exon_skip_427003 | 4 | 166141152:166141211:166159929:166160051:166184348:166184433 | 166159929:166160051 | ENSG00000109466.9 | ENST00000538127.1,ENST00000506824.1 |
| exon_skip_427004 | 4 | 166149958:166150065:166159929:166160051:166184348:166184433 | 166159929:166160051 | ENSG00000109466.9 | ENST00000226725.6,ENST00000509704.1,ENST00000514860.1 |
| exon_skip_427006 | 4 | 166149958:166150065:166184348:166184511:166215510:166215620 | 166184348:166184511 | ENSG00000109466.9 | ENST00000421009.2 |
| exon_skip_427007 | 4 | 166159929:166160051:166184348:166184511:166215510:166215620 | 166184348:166184511 | ENSG00000109466.9 | ENST00000226725.6,ENST00000514860.1,ENST00000538127.1,ENST00000506824.1 |
| exon_skip_427008 | 4 | 166220658:166220808:166226759:166226877:166231704:166231902 | 166226759:166226877 | ENSG00000109466.9 | ENST00000226725.6,ENST00000514860.1,ENST00000538127.1,ENST00000506824.1,ENST00000421009.2,ENST00000506541.1,ENST00000506761.1 |
| exon_skip_427010 | 4 | 166231704:166231902:166232615:166232717:166234389:166234518 | 166232615:166232717 | ENSG00000109466.9 | ENST00000226725.6,ENST00000514860.1,ENST00000538127.1,ENST00000506824.1,ENST00000421009.2,ENST00000506761.1,ENST00000509028.1 |
| exon_skip_427011 | 4 | 166239016:166239121:166242463:166242527:166243183:166243610 | 166242463:166242527 | ENSG00000109466.9 | ENST00000509028.1 |
| 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 KLHL2 |
| 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 |
| ENST00000226725 | 166149958 | 166150065 | Frame-shift |
| ENST00000226725 | 166159929 | 166160051 | Frame-shift |
| ENST00000226725 | 166184348 | 166184511 | Frame-shift |
| ENST00000226725 | 166226759 | 166226877 | Frame-shift |
| ENST00000226725 | 166232615 | 166232717 | 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 |
| ENST00000226725 | 166149958 | 166150065 | Frame-shift |
| ENST00000226725 | 166159929 | 166160051 | Frame-shift |
| ENST00000226725 | 166184348 | 166184511 | Frame-shift |
| ENST00000226725 | 166226759 | 166226877 | Frame-shift |
| ENST00000226725 | 166232615 | 166232717 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KLHL2 |
| 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 |
| ENST00000226725 | 3151 | 593 | 166232615 | 166232717 | 1497 | 1598 | 412 | 446 |
| 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 |
| ENST00000226725 | 3151 | 593 | 166232615 | 166232717 | 1497 | 1598 | 412 | 446 |
| 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 |
| O95198 | 412 | 446 | 410 | 413 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CHB |
| O95198 | 412 | 446 | 417 | 421 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CHB |
| O95198 | 412 | 446 | 426 | 430 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CHB |
| O95198 | 412 | 446 | 441 | 445 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CHB |
| O95198 | 412 | 446 | 1 | 593 | Chain | ID=PRO_0000119101;Note=Kelch-like protein 2 |
| O95198 | 412 | 446 | 402 | 447 | Repeat | Note=Kelch 3 |
| O95198 | 412 | 446 | 422 | 425 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CHB |
| 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 |
| O95198 | 412 | 446 | 410 | 413 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CHB |
| O95198 | 412 | 446 | 417 | 421 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CHB |
| O95198 | 412 | 446 | 426 | 430 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CHB |
| O95198 | 412 | 446 | 441 | 445 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CHB |
| O95198 | 412 | 446 | 1 | 593 | Chain | ID=PRO_0000119101;Note=Kelch-like protein 2 |
| O95198 | 412 | 446 | 402 | 447 | Repeat | Note=Kelch 3 |
| O95198 | 412 | 446 | 422 | 425 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CHB |
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SNVs in the skipped exons for KLHL2 |
| - 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-A3A0-01 | exon_skip_427002 exon_skip_427001 | 166149959 | 166150065 | 166150046 | 166150046 | Frame_Shift_Del | T | - | p.Y80fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_427006 exon_skip_427007 | 166184349 | 166184511 | 166184409 | 166184409 | Frame_Shift_Del | T | - | p.F148fs |
| BLCA | TCGA-GU-A762-01 | exon_skip_427010 | 166232616 | 166232717 | 166232654 | 166232654 | Frame_Shift_Del | G | - | p.E426fs |
| KIRC | TCGA-B8-A8YJ-01 | exon_skip_427006 exon_skip_427007 | 166184349 | 166184511 | 166184374 | 166184375 | Frame_Shift_Ins | - | A | p.L140fs |
| SKCM | TCGA-D3-A8GI-06 | exon_skip_427002 exon_skip_427001 | 166149959 | 166150065 | 166150001 | 166150001 | Nonsense_Mutation | G | A | p.W9* |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_427002 exon_skip_427001 | 166149959 | 166150065 | 166150063 | 166150063 | Nonsense_Mutation | C | T | p.Q30* |
| LUAD | TCGA-17-Z055-01 | exon_skip_427003 exon_skip_427004 | 166159930 | 166160051 | 166160028 | 166160028 | Nonsense_Mutation | C | T | p.Q120* |
| - 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 |
| WM35_SKIN | 166226760 | 166226877 | 166226850 | 166226852 | In_Frame_Del | GAG | - | p.E338del |
| MEWO_SKIN | 166159930 | 166160051 | 166159967 | 166159967 | Missense_Mutation | A | G | p.I99M |
| SNU407_LARGE_INTESTINE | 166159930 | 166160051 | 166159993 | 166159993 | Missense_Mutation | G | T | p.R108M |
| HCT15_LARGE_INTESTINE | 166159930 | 166160051 | 166160038 | 166160038 | Missense_Mutation | A | G | p.E123G |
| SW620_LARGE_INTESTINE | 166184349 | 166184511 | 166184395 | 166184395 | Missense_Mutation | A | T | p.K143M |
| MESSA_SOFT_TISSUE | 166184349 | 166184511 | 166184427 | 166184427 | Missense_Mutation | C | T | p.H154Y |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 166184349 | 166184511 | 166184449 | 166184449 | Missense_Mutation | T | C | p.I161T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KLHL2 |
| 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 |
| exon_skip_427000 | 4 | 166141152:166141211:166145089:166145209:166149958:166150065 | 166145089:166145209 | ENST00000511305.1 | LGG | rs138811447 | chr4:166145191 | C/T | 5.65e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KLHL2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KLHL2 |
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RelatedDrugs for KLHL2 |
| 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 KLHL2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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