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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 MKLN1 |
 Gene summary |
| Gene information | Gene symbol | MKLN1 | Gene ID | 4289 |
| Gene name | muskelin 1 | |
| Synonyms | TWA2 | |
| Cytomap | 7q32.3 | |
| Type of gene | protein-coding | |
| Description | muskelinmuskelin 1, intracellular mediator containing kelch motifs | |
| Modification date | 20180522 | |
| UniProtAcc | Q9UL63 | |
| Context | PubMed: MKLN1 [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 MKLN1 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 MKLN1 |
| 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 MKLN1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_471307 | 7 | 130827578:130827700:130887615:130887733:131060182:131060252 | 130887615:130887733 | ENSG00000128585.13 | ENST00000416992.2 |
| exon_skip_471309 | 7 | 131012655:131012756:131060182:131060252:131071878:131072021 | 131060182:131060252 | ENSG00000128585.13 | ENST00000352689.6,ENST00000494785.1,ENST00000458153.1 |
| exon_skip_471312 | 7 | 131060182:131060252:131071878:131072021:131073642:131073731 | 131071878:131072021 | ENSG00000128585.13 | ENST00000352689.6,ENST00000494785.1,ENST00000458153.1,ENST00000421797.2,ENST00000416992.2,ENST00000429546.1 |
| exon_skip_471314 | 7 | 131099403:131099469:131113791:131113904:131122543:131122756 | 131113791:131113904 | ENSG00000128585.13 | ENST00000352689.6,ENST00000494785.1,ENST00000458153.1,ENST00000421797.2 |
| exon_skip_471316 | 7 | 131122543:131122756:131128239:131128461:131130532:131130662 | 131128239:131128461 | ENSG00000128585.13 | ENST00000352689.6,ENST00000494785.1,ENST00000458153.1,ENST00000421797.2 |
| exon_skip_471319 | 7 | 131128239:131128461:131130532:131130662:131147975:131148123 | 131130532:131130662 | ENSG00000128585.13 | ENST00000352689.6,ENST00000494785.1,ENST00000458153.1,ENST00000421797.2 |
| exon_skip_471320 | 7 | 131151034:131151174:131155600:131155703:131163381:131163436 | 131155600:131155703 | ENSG00000128585.13 | ENST00000352689.6,ENST00000494785.1,ENST00000458153.1,ENST00000421797.2 |
| exon_skip_471321 | 7 | 131151034:131151174:131155600:131155703:131172365:131172603 | 131155600:131155703 | ENSG00000128585.13 | ENST00000498778.1 |
| exon_skip_471326 | 7 | 131155600:131155703:131163381:131163436:131172365:131172603 | 131163381:131163436 | ENSG00000128585.13 | ENST00000352689.6,ENST00000458153.1,ENST00000421797.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MKLN1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_471307 | 7 | 130827578:130827700:130887615:130887733:131060182:131060252 | 130887615:130887733 | ENSG00000128585.13 | ENST00000416992.2 |
| exon_skip_471309 | 7 | 131012655:131012756:131060182:131060252:131071878:131072021 | 131060182:131060252 | ENSG00000128585.13 | ENST00000352689.6,ENST00000494785.1,ENST00000458153.1 |
| exon_skip_471312 | 7 | 131060182:131060252:131071878:131072021:131073642:131073731 | 131071878:131072021 | ENSG00000128585.13 | ENST00000421797.2,ENST00000416992.2,ENST00000429546.1,ENST00000352689.6,ENST00000494785.1,ENST00000458153.1 |
| exon_skip_471314 | 7 | 131099403:131099469:131113791:131113904:131122543:131122756 | 131113791:131113904 | ENSG00000128585.13 | ENST00000421797.2,ENST00000352689.6,ENST00000494785.1,ENST00000458153.1 |
| exon_skip_471316 | 7 | 131122543:131122756:131128239:131128461:131130532:131130662 | 131128239:131128461 | ENSG00000128585.13 | ENST00000421797.2,ENST00000352689.6,ENST00000494785.1,ENST00000458153.1 |
| exon_skip_471319 | 7 | 131128239:131128461:131130532:131130662:131147975:131148123 | 131130532:131130662 | ENSG00000128585.13 | ENST00000421797.2,ENST00000352689.6,ENST00000494785.1,ENST00000458153.1 |
| exon_skip_471320 | 7 | 131151034:131151174:131155600:131155703:131163381:131163436 | 131155600:131155703 | ENSG00000128585.13 | ENST00000421797.2,ENST00000352689.6,ENST00000494785.1,ENST00000458153.1 |
| exon_skip_471321 | 7 | 131151034:131151174:131155600:131155703:131172365:131172603 | 131155600:131155703 | ENSG00000128585.13 | ENST00000498778.1 |
| exon_skip_471326 | 7 | 131155600:131155703:131163381:131163436:131172365:131172603 | 131163381:131163436 | ENSG00000128585.13 | ENST00000421797.2,ENST00000352689.6,ENST00000458153.1 |
| 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 MKLN1 |
| 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 |
| ENST00000352689 | 131060182 | 131060252 | Frame-shift |
| ENST00000352689 | 131071878 | 131072021 | Frame-shift |
| ENST00000352689 | 131113791 | 131113904 | Frame-shift |
| ENST00000352689 | 131130532 | 131130662 | Frame-shift |
| ENST00000352689 | 131155600 | 131155703 | Frame-shift |
| ENST00000352689 | 131163381 | 131163436 | Frame-shift |
| ENST00000352689 | 131128239 | 131128461 | 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 |
| ENST00000352689 | 131060182 | 131060252 | Frame-shift |
| ENST00000352689 | 131071878 | 131072021 | Frame-shift |
| ENST00000352689 | 131113791 | 131113904 | Frame-shift |
| ENST00000352689 | 131130532 | 131130662 | Frame-shift |
| ENST00000352689 | 131155600 | 131155703 | Frame-shift |
| ENST00000352689 | 131163381 | 131163436 | Frame-shift |
| ENST00000352689 | 131128239 | 131128461 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MKLN1 |
| 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 |
| ENST00000352689 | 11173 | 735 | 131128239 | 131128461 | 1214 | 1435 | 391 | 465 |
| 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 |
| ENST00000352689 | 11173 | 735 | 131128239 | 131128461 | 1214 | 1435 | 391 | 465 |
| 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 |
| Q9UL63 | 391 | 465 | 2 | 735 | Chain | ID=PRO_0000119138;Note=Muskelin |
| Q9UL63 | 391 | 465 | 339 | 391 | Repeat | Note=Kelch 2 |
| Q9UL63 | 391 | 465 | 408 | 458 | Repeat | Note=Kelch 3 |
| Q9UL63 | 391 | 465 | 408 | 408 | Sequence conflict | Note=I->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UL63 | 391 | 465 | 414 | 414 | Sequence conflict | Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UL63 | 391 | 465 | 436 | 436 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9UL63 | 391 | 465 | 2 | 735 | Chain | ID=PRO_0000119138;Note=Muskelin |
| Q9UL63 | 391 | 465 | 339 | 391 | Repeat | Note=Kelch 2 |
| Q9UL63 | 391 | 465 | 408 | 458 | Repeat | Note=Kelch 3 |
| Q9UL63 | 391 | 465 | 408 | 408 | Sequence conflict | Note=I->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UL63 | 391 | 465 | 414 | 414 | Sequence conflict | Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UL63 | 391 | 465 | 436 | 436 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for MKLN1 |
| - 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-HT-7472-01 | exon_skip_471314 | 131113792 | 131113904 | 131113796 | 131113799 | Frame_Shift_Del | TGTT | - | p.284_285del |
| LGG | TCGA-HT-7472-01 | exon_skip_471314 | 131113792 | 131113904 | 131113796 | 131113799 | Frame_Shift_Del | TGTT | - | p.TV284fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_471316 | 131128240 | 131128461 | 131128289 | 131128289 | Frame_Shift_Del | T | - | p.I408fs |
| BRCA | TCGA-AR-A24T-01 | exon_skip_471316 | 131128240 | 131128461 | 131128391 | 131128394 | Frame_Shift_Del | GAGA | - | p.E443fs |
| LIHC | TCGA-DD-AADO-01 | exon_skip_471314 | 131113792 | 131113904 | 131113817 | 131113817 | Nonsense_Mutation | G | A | p.W291X |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_471316 | 131128240 | 131128461 | 131128390 | 131128390 | Nonsense_Mutation | C | T | p.R442* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_471320 exon_skip_471321 | 131155601 | 131155703 | 131155689 | 131155689 | Nonsense_Mutation | G | T | p.E673* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_471320 exon_skip_471321 | 131155601 | 131155703 | 131155701 | 131155701 | Nonsense_Mutation | G | T | p.E677* |
| - 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 |
| IM95_STOMACH | 131071879 | 131072021 | 131071930 | 131071930 | Frame_Shift_Del | G | - | p.G74fs |
| HEC6_ENDOMETRIUM | 131060183 | 131060252 | 131060197 | 131060197 | Missense_Mutation | A | G | p.D38G |
| TE1_OESOPHAGUS | 131060183 | 131060252 | 131060206 | 131060206 | Missense_Mutation | A | G | p.N41S |
| VMRCMELG_SKIN | 131060183 | 131060252 | 131060208 | 131060208 | Missense_Mutation | G | T | p.D42Y |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131060183 | 131060252 | 131060247 | 131060247 | Missense_Mutation | C | T | p.P55S |
| HT115_LARGE_INTESTINE | 131071879 | 131072021 | 131071935 | 131071935 | Missense_Mutation | A | C | p.K75N |
| JHUEM1_ENDOMETRIUM | 131071879 | 131072021 | 131071951 | 131071951 | Missense_Mutation | G | A | p.V81I |
| RD_SOFT_TISSUE | 131071879 | 131072021 | 131071989 | 131071989 | Missense_Mutation | G | A | p.M93I |
| HCC1599_BREAST | 131128240 | 131128461 | 131128242 | 131128242 | Missense_Mutation | G | A | p.M392I |
| C4I_CERVIX | 131128240 | 131128461 | 131128253 | 131128253 | Missense_Mutation | C | T | p.S396L |
| HCC2998_LARGE_INTESTINE | 131128240 | 131128461 | 131128256 | 131128256 | Missense_Mutation | A | C | p.E397A |
| ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131128240 | 131128461 | 131128303 | 131128303 | Missense_Mutation | G | A | p.G413S |
| NCIH1417_LUNG | 131128240 | 131128461 | 131128315 | 131128315 | Missense_Mutation | G | A | p.D417N |
| KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131128240 | 131128461 | 131128352 | 131128352 | Missense_Mutation | T | A | p.F429Y |
| SNU81_LARGE_INTESTINE | 131128240 | 131128461 | 131128359 | 131128359 | Missense_Mutation | C | A | p.F431L |
| HEC251_ENDOMETRIUM | 131128240 | 131128461 | 131128375 | 131128375 | Missense_Mutation | A | G | p.T437A |
| LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM | 131128240 | 131128461 | 131128400 | 131128400 | Missense_Mutation | C | A | p.S445Y |
| LNZ308_CENTRAL_NERVOUS_SYSTEM | 131128240 | 131128461 | 131128400 | 131128400 | Missense_Mutation | C | A | p.S445Y |
| FTC133_THYROID | 131128240 | 131128461 | 131128408 | 131128408 | Missense_Mutation | G | A | p.A448T |
| HCC95_LUNG | 131128240 | 131128461 | 131128425 | 131128425 | Missense_Mutation | C | G | p.I453M |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131130533 | 131130662 | 131130540 | 131130540 | Missense_Mutation | G | A | p.R468H |
| NCIH2110_LUNG | 131130533 | 131130662 | 131130587 | 131130587 | Missense_Mutation | G | T | p.D484Y |
| GMS10_CENTRAL_NERVOUS_SYSTEM | 131130533 | 131130662 | 131130605 | 131130605 | Missense_Mutation | G | T | p.V490L |
| C2BBE1_LARGE_INTESTINE | 131130533 | 131130662 | 131130614 | 131130614 | Missense_Mutation | G | C | p.D493H |
| CACO2_LARGE_INTESTINE | 131130533 | 131130662 | 131130614 | 131130614 | Missense_Mutation | G | C | p.D493H |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 131155601 | 131155703 | 131155620 | 131155620 | Missense_Mutation | G | A | p.V650M |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131155601 | 131155703 | 131155620 | 131155620 | Missense_Mutation | G | A | p.V650M |
| COLO783_SKIN | 131155601 | 131155703 | 131155677 | 131155677 | Missense_Mutation | C | T | p.H669Y |
| KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131163382 | 131163436 | 131163394 | 131163394 | Missense_Mutation | G | A | p.A682T |
| HCC1428_BREAST | 131163382 | 131163436 | 131163419 | 131163419 | Nonsense_Mutation | C | G | p.S690* |
| SNU1040_LARGE_INTESTINE | 131071879 | 131072021 | 131071880 | 131071880 | Splice_Site | A | T | p.Y57F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MKLN1 |
| 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_471307 | 7 | 130827578:130827700:130887615:130887733:131060182:131060252 | 130887615:130887733 | ENST00000416992.2 | KIRP | rs16873935 | chr7:130887624 | G/A | 6.64e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MKLN1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MKLN1 |
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RelatedDrugs for MKLN1 |
| 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 MKLN1 |
| 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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