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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 KLHDC1 |
 Gene summary |
| Gene information | Gene symbol | KLHDC1 | Gene ID | 122773 |
| Gene name | kelch domain containing 1 | |
| Synonyms | MST025 | |
| Cytomap | 14q21.3 | |
| Type of gene | protein-coding | |
| Description | kelch domain-containing protein 1 | |
| Modification date | 20180331 | |
| UniProtAcc | Q8N7A1 | |
| Context | PubMed: KLHDC1 [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 KLHDC1 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 KLHDC1 |
| 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 KLHDC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_106383 | 14 | 50159846:50160008:50166767:50166907:50175876:50175947 | 50166767:50166907 | ENSG00000197776.3 | ENST00000555704.1 |
| exon_skip_106384 | 14 | 50175876:50175947:50176426:50176544:50176980:50177099 | 50176426:50176544 | ENSG00000197776.3 | ENST00000553274.1,ENST00000555704.1,ENST00000359332.2 |
| exon_skip_106385 | 14 | 50177006:50177099:50190591:50190670:50192403:50192487 | 50190591:50190670 | ENSG00000197776.3 | ENST00000556392.1,ENST00000359332.2 |
| exon_skip_106386 | 14 | 50190591:50190670:50192403:50192487:50195643:50195727 | 50192403:50192487 | ENSG00000197776.3 | ENST00000556392.1,ENST00000359332.2 |
| exon_skip_106388 | 14 | 50192403:50192487:50195643:50195727:50196207:50196266 | 50195643:50195727 | ENSG00000197776.3 | ENST00000554512.1,ENST00000556392.1,ENST00000359332.2,ENST00000557128.1 |
| exon_skip_106389 | 14 | 50201306:50201379:50206815:50206900:50210470:50210523 | 50206815:50206900 | ENSG00000197776.3 | ENST00000554512.1,ENST00000556392.1,ENST00000555704.1,ENST00000359332.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KLHDC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_106383 | 14 | 50159846:50160008:50166767:50166907:50175876:50175947 | 50166767:50166907 | ENSG00000197776.3 | ENST00000555704.1 |
| exon_skip_106384 | 14 | 50175876:50175947:50176426:50176544:50176980:50177099 | 50176426:50176544 | ENSG00000197776.3 | ENST00000555704.1,ENST00000359332.2,ENST00000553274.1 |
| exon_skip_106385 | 14 | 50177006:50177099:50190591:50190670:50192403:50192487 | 50190591:50190670 | ENSG00000197776.3 | ENST00000556392.1,ENST00000359332.2 |
| exon_skip_106386 | 14 | 50190591:50190670:50192403:50192487:50195643:50195727 | 50192403:50192487 | ENSG00000197776.3 | ENST00000556392.1,ENST00000359332.2 |
| exon_skip_106388 | 14 | 50192403:50192487:50195643:50195727:50196207:50196266 | 50195643:50195727 | ENSG00000197776.3 | ENST00000556392.1,ENST00000359332.2,ENST00000557128.1,ENST00000554512.1 |
| exon_skip_106389 | 14 | 50201306:50201379:50206815:50206900:50210470:50210523 | 50206815:50206900 | ENSG00000197776.3 | ENST00000556392.1,ENST00000555704.1,ENST00000359332.2,ENST00000554512.1 |
| 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 KLHDC1 |
| 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 |
| ENST00000359332 | 50176426 | 50176544 | Frame-shift |
| ENST00000359332 | 50190591 | 50190670 | Frame-shift |
| ENST00000359332 | 50206815 | 50206900 | Frame-shift |
| ENST00000359332 | 50192403 | 50192487 | In-frame |
| ENST00000359332 | 50195643 | 50195727 | 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 |
| ENST00000359332 | 50176426 | 50176544 | Frame-shift |
| ENST00000359332 | 50190591 | 50190670 | Frame-shift |
| ENST00000359332 | 50206815 | 50206900 | Frame-shift |
| ENST00000359332 | 50192403 | 50192487 | In-frame |
| ENST00000359332 | 50195643 | 50195727 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KLHDC1 |
| 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 |
| ENST00000359332 | 2708 | 406 | 50192403 | 50192487 | 574 | 657 | 161 | 189 |
| ENST00000359332 | 2708 | 406 | 50195643 | 50195727 | 658 | 741 | 189 | 217 |
| 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 |
| ENST00000359332 | 2708 | 406 | 50192403 | 50192487 | 574 | 657 | 161 | 189 |
| ENST00000359332 | 2708 | 406 | 50195643 | 50195727 | 658 | 741 | 189 | 217 |
| 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 |
| Q8N7A1 | 161 | 189 | 1 | 406 | Chain | ID=PRO_0000119126;Note=Kelch domain-containing protein 1 |
| Q8N7A1 | 161 | 189 | 135 | 181 | Repeat | Note=Kelch 3 |
| Q8N7A1 | 189 | 217 | 1 | 406 | Chain | ID=PRO_0000119126;Note=Kelch domain-containing protein 1 |
| Q8N7A1 | 189 | 217 | 208 | 258 | Repeat | Note=Kelch 4 |
| 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 |
| Q8N7A1 | 161 | 189 | 1 | 406 | Chain | ID=PRO_0000119126;Note=Kelch domain-containing protein 1 |
| Q8N7A1 | 161 | 189 | 135 | 181 | Repeat | Note=Kelch 3 |
| Q8N7A1 | 189 | 217 | 1 | 406 | Chain | ID=PRO_0000119126;Note=Kelch domain-containing protein 1 |
| Q8N7A1 | 189 | 217 | 208 | 258 | Repeat | Note=Kelch 4 |
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SNVs in the skipped exons for KLHDC1 |
| - 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-G3-A3CJ-01 | exon_skip_106385 | 50190592 | 50190670 | 50190646 | 50190646 | Frame_Shift_Del | T | - | p.C153fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_106386 | 50192404 | 50192487 | 50192420 | 50192420 | Frame_Shift_Del | G | - | p.W167fs |
| LGG | TCGA-FG-A4MU-01 | exon_skip_106389 | 50206816 | 50206900 | 50206884 | 50206885 | Frame_Shift_Ins | - | A | p.L322fs |
| LGG | TCGA-FG-A4MU-01 | exon_skip_106389 | 50206816 | 50206900 | 50206884 | 50206885 | Frame_Shift_Ins | - | A | p.S322fs |
| LUSC | TCGA-66-2785-01 | exon_skip_106384 | 50176427 | 50176544 | 50176427 | 50176427 | Nonsense_Mutation | G | A | p.W56_splice |
| LIHC | TCGA-2Y-A9H1-01 | exon_skip_106386 | 50192404 | 50192487 | 50192421 | 50192421 | Nonsense_Mutation | G | A | p.W167X |
| - 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 |
| ESS1_ENDOMETRIUM | 50176427 | 50176544 | 50176435 | 50176435 | Missense_Mutation | A | C | p.H59P |
| SNU503_LARGE_INTESTINE | 50176427 | 50176544 | 50176437 | 50176437 | Missense_Mutation | C | T | p.L60F |
| LS411N_LARGE_INTESTINE | 50192404 | 50192487 | 50192443 | 50192443 | Missense_Mutation | A | G | p.I175V |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50195644 | 50195727 | 50195669 | 50195669 | Missense_Mutation | C | A | p.A198D |
| SISO_CERVIX | 50195644 | 50195727 | 50195671 | 50195671 | Missense_Mutation | G | A | p.A199T |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50195644 | 50195727 | 50195671 | 50195671 | Missense_Mutation | G | A | p.A199T |
| DU145_PROSTATE | 50195644 | 50195727 | 50195700 | 50195700 | Missense_Mutation | G | T | p.K208N |
| UMUC16_URINARY_TRACT | 50176427 | 50176544 | 50176543 | 50176543 | Splice_Site | G | A | p.R95Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KLHDC1 |
| 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 KLHDC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KLHDC1 |
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RelatedDrugs for KLHDC1 |
| 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 KLHDC1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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