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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 KLHDC2 |
 Gene summary |
| Gene information | Gene symbol | KLHDC2 | Gene ID | 23588 |
| Gene name | kelch domain containing 2 | |
| Synonyms | HCLP-1|HCLP1|LCP | |
| Cytomap | 14q21.3 | |
| Type of gene | protein-coding | |
| Description | kelch domain-containing protein 2hepatocellular carcinoma-associated antigen 33host cell factor homolog LCPhost cell factor-like protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y2U9 | |
| Context | PubMed: KLHDC2 [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 KLHDC2 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 KLHDC2 |
| 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 KLHDC2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_106393 | 14 | 50234885:50235339:50238311:50238391:50241278:50241396 | 50238311:50238391 | ENSG00000165516.6 | ENST00000555739.1,ENST00000554589.1,ENST00000557247.1,ENST00000555443.1 |
| exon_skip_106395 | 14 | 50238311:50238391:50241278:50241396:50244556:50244672 | 50241278:50241396 | ENSG00000165516.6 | ENST00000555739.1,ENST00000554589.1,ENST00000557247.1,ENST00000298307.5,ENST00000555443.1,ENST00000553538.1 |
| exon_skip_106396 | 14 | 50244895:50244977:50245128:50245212:50246312:50246393 | 50245128:50245212 | ENSG00000165516.6 | ENST00000555739.1,ENST00000556559.1,ENST00000554589.1,ENST00000557247.1,ENST00000298307.5,ENST00000555443.1,ENST00000557063.1 |
| exon_skip_106398 | 14 | 50246312:50246393:50246465:50246524:50246930:50247040 | 50246465:50246524 | ENSG00000165516.6 | ENST00000554589.1,ENST00000557247.1,ENST00000298307.5 |
| exon_skip_106402 | 14 | 50246465:50246524:50246930:50247040:50247420:50247493 | 50246930:50247040 | ENSG00000165516.6 | ENST00000555739.1,ENST00000556559.1,ENST00000554589.1,ENST00000298307.5,ENST00000555443.1 |
| exon_skip_106403 | 14 | 50246930:50247040:50247420:50247493:50249087:50249175 | 50247420:50247493 | ENSG00000165516.6 | ENST00000556559.1,ENST00000554589.1,ENST00000298307.5,ENST00000555443.1,ENST00000554115.1 |
| exon_skip_106404 | 14 | 50247420:50247493:50249087:50249175:50249259:50249312 | 50249087:50249175 | ENSG00000165516.6 | ENST00000298307.5,ENST00000555443.1,ENST00000553579.1,ENST00000554115.1 |
| exon_skip_106405 | 14 | 50249087:50249175:50249259:50249312:50249547:50249829 | 50249259:50249312 | ENSG00000165516.6 | ENST00000298307.5,ENST00000555443.1,ENST00000553579.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KLHDC2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_106393 | 14 | 50234885:50235339:50238311:50238391:50241278:50241396 | 50238311:50238391 | ENSG00000165516.6 | ENST00000555739.1,ENST00000554589.1,ENST00000555443.1,ENST00000557247.1 |
| exon_skip_106395 | 14 | 50238311:50238391:50241278:50241396:50244556:50244672 | 50241278:50241396 | ENSG00000165516.6 | ENST00000298307.5,ENST00000555739.1,ENST00000554589.1,ENST00000555443.1,ENST00000557247.1,ENST00000553538.1 |
| exon_skip_106396 | 14 | 50244895:50244977:50245128:50245212:50246312:50246393 | 50245128:50245212 | ENSG00000165516.6 | ENST00000298307.5,ENST00000555739.1,ENST00000554589.1,ENST00000555443.1,ENST00000557247.1,ENST00000557063.1,ENST00000556559.1 |
| exon_skip_106398 | 14 | 50246312:50246393:50246465:50246524:50246930:50247040 | 50246465:50246524 | ENSG00000165516.6 | ENST00000298307.5,ENST00000554589.1,ENST00000557247.1 |
| exon_skip_106402 | 14 | 50246465:50246524:50246930:50247040:50247420:50247493 | 50246930:50247040 | ENSG00000165516.6 | ENST00000298307.5,ENST00000555739.1,ENST00000554589.1,ENST00000555443.1,ENST00000556559.1 |
| exon_skip_106403 | 14 | 50246930:50247040:50247420:50247493:50249087:50249175 | 50247420:50247493 | ENSG00000165516.6 | ENST00000298307.5,ENST00000554589.1,ENST00000555443.1,ENST00000556559.1,ENST00000554115.1 |
| exon_skip_106404 | 14 | 50247420:50247493:50249087:50249175:50249259:50249312 | 50249087:50249175 | ENSG00000165516.6 | ENST00000298307.5,ENST00000555443.1,ENST00000554115.1,ENST00000553579.1 |
| exon_skip_106405 | 14 | 50249087:50249175:50249259:50249312:50249547:50249829 | 50249259:50249312 | ENSG00000165516.6 | ENST00000298307.5,ENST00000555443.1,ENST00000553579.1 |
| 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 KLHDC2 |
| 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 |
| ENST00000298307 | 50241278 | 50241396 | Frame-shift |
| ENST00000298307 | 50246465 | 50246524 | Frame-shift |
| ENST00000298307 | 50246930 | 50247040 | Frame-shift |
| ENST00000298307 | 50247420 | 50247493 | Frame-shift |
| ENST00000298307 | 50249087 | 50249175 | Frame-shift |
| ENST00000298307 | 50249259 | 50249312 | Frame-shift |
| ENST00000298307 | 50245128 | 50245212 | 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 |
| ENST00000298307 | 50241278 | 50241396 | Frame-shift |
| ENST00000298307 | 50246465 | 50246524 | Frame-shift |
| ENST00000298307 | 50246930 | 50247040 | Frame-shift |
| ENST00000298307 | 50247420 | 50247493 | Frame-shift |
| ENST00000298307 | 50249087 | 50249175 | Frame-shift |
| ENST00000298307 | 50249259 | 50249312 | Frame-shift |
| ENST00000298307 | 50245128 | 50245212 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KLHDC2 |
| 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 |
| ENST00000298307 | 2337 | 406 | 50245128 | 50245212 | 1411 | 1494 | 183 | 211 |
| 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 |
| ENST00000298307 | 2337 | 406 | 50245128 | 50245212 | 1411 | 1494 | 183 | 211 |
| 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 |
| Q9Y2U9 | 183 | 211 | 1 | 406 | Chain | ID=PRO_0000119127;Note=Kelch domain-containing protein 2 |
| Q9Y2U9 | 183 | 211 | 157 | 202 | Repeat | Note=Kelch 3 |
| 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 |
| Q9Y2U9 | 183 | 211 | 1 | 406 | Chain | ID=PRO_0000119127;Note=Kelch domain-containing protein 2 |
| Q9Y2U9 | 183 | 211 | 157 | 202 | Repeat | Note=Kelch 3 |
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SNVs in the skipped exons for KLHDC2 |
| - 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 |
| LGG | TCGA-DU-6392-01 | exon_skip_106393 | 50238312 | 50238391 | 50238339 | 50238339 | Frame_Shift_Del | T | - | p.F61fs |
| READ | TCGA-AG-3732-01 | exon_skip_106396 | 50245129 | 50245212 | 50245175 | 50245175 | Frame_Shift_Del | A | - | p.D199fs |
| STAD | TCGA-HF-A5NB-01 | exon_skip_106402 | 50246931 | 50247040 | 50246968 | 50246971 | Frame_Shift_Del | CACT | - | p.270_271del |
| STAD | TCGA-HF-A5NB-01 | exon_skip_106402 | 50246931 | 50247040 | 50246968 | 50246971 | Frame_Shift_Del | CACT | - | p.HS271fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_106403 | 50247421 | 50247493 | 50247447 | 50247447 | Frame_Shift_Del | A | - | p.K304fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_106403 | 50247421 | 50247493 | 50247447 | 50247447 | Frame_Shift_Del | A | - | p.K304fs |
| READ | TCGA-AH-6644-01 | exon_skip_106395 | 50241279 | 50241396 | 50241377 | 50241377 | Nonsense_Mutation | C | G | p.S111X |
| BLCA | TCGA-CF-A9FM-01 | exon_skip_106404 | 50249088 | 50249175 | 50249092 | 50249092 | Nonsense_Mutation | T | G | p.Y296* |
| BLCA | TCGA-E7-A7XN-01 | exon_skip_106405 | 50249260 | 50249312 | 50249293 | 50249293 | Nonsense_Mutation | C | T | p.Q360* |
| STAD | TCGA-CG-5733-01 | exon_skip_106404 | 50249088 | 50249175 | 50249176 | 50249176 | Splice_Site | G | T | . |
| STAD | TCGA-CG-5733-01 | exon_skip_106404 | 50249088 | 50249175 | 50249176 | 50249176 | Splice_Site | G | T | p.A348_splice |
| - 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 |
| MDAMB453_BREAST | 50238312 | 50238391 | 50238357 | 50238357 | Missense_Mutation | G | C | p.E67Q |
| CP66EBV_MATCHED_NORMAL_TISSUE | 50241279 | 50241396 | 50241325 | 50241325 | Missense_Mutation | A | G | p.S94G |
| JHUEM7_ENDOMETRIUM | 50246931 | 50247040 | 50247007 | 50247007 | Missense_Mutation | T | G | p.F284V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 50246931 | 50247040 | 50247027 | 50247027 | Missense_Mutation | T | A | p.D290E |
| LN18_CENTRAL_NERVOUS_SYSTEM | 50247421 | 50247493 | 50247435 | 50247435 | Missense_Mutation | T | C | p.Y300H |
| NB14_AUTONOMIC_GANGLIA | 50247421 | 50247493 | 50247439 | 50247439 | Missense_Mutation | G | A | p.C301Y |
| KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50247421 | 50247493 | 50247462 | 50247462 | Missense_Mutation | C | A | p.Q309K |
| MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50249260 | 50249312 | 50249281 | 50249281 | Missense_Mutation | A | G | p.I356V |
| PLB985_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50249260 | 50249312 | 50249293 | 50249293 | Missense_Mutation | C | A | p.Q360K |
| UO31_KIDNEY | 50241279 | 50241396 | 50241280 | 50241280 | Splice_Site | A | - | p.K80fs |
| HEC251_ENDOMETRIUM | 50241279 | 50241396 | 50241395 | 50241395 | Splice_Site | A | C | p.K117T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KLHDC2 |
| 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 KLHDC2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KLHDC2 |
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RelatedDrugs for KLHDC2 |
| 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 KLHDC2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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