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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 MUC20 |
 Gene summary |
| Gene information | Gene symbol | MUC20 | Gene ID | 200958 |
| Gene name | mucin 20, cell surface associated | |
| Synonyms | MUC-20 | |
| Cytomap | 3q29 | |
| Type of gene | protein-coding | |
| Description | mucin-20transmembrane mucin MUC20S | |
| Modification date | 20180523 | |
| UniProtAcc | Q8N307 | |
| Context | PubMed: MUC20 [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 |
| MUC20 | GO:0051260 | protein homooligomerization | 15314156 |
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Exon skipping events across known transcript of Ensembl for MUC20 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 MUC20 |
| 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 MUC20 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_380637 | 3 | 195447845:195447954:195449371:195449689:195451550:195451688 | 195449371:195449689 | ENSG00000176945.12 | ENST00000485430.1 |
| exon_skip_380641 | 3 | 195447845:195447954:195451550:195453443:195456518:195456610 | 195451550:195453443 | ENSG00000176945.12 | ENST00000436408.1 |
| exon_skip_380661 | 3 | 195453240:195453443:195456518:195456610:195460020:195460280 | 195456518:195456610 | ENSG00000176945.12 | ENST00000445522.2,ENST00000447234.2,ENST00000320736.6 |
| exon_skip_380674 | 3 | 195456518:195456610:195466717:195466801:195467852:195467994 | 195466717:195466801 | ENSG00000176945.12 | ENST00000423938.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MUC20 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_380637 | 3 | 195447845:195447954:195449371:195449689:195451550:195451688 | 195449371:195449689 | ENSG00000176945.12 | ENST00000485430.1 |
| exon_skip_380641 | 3 | 195447845:195447954:195451550:195453443:195456518:195456610 | 195451550:195453443 | ENSG00000176945.12 | ENST00000436408.1 |
| exon_skip_380661 | 3 | 195453240:195453443:195456518:195456610:195460020:195460280 | 195456518:195456610 | ENSG00000176945.12 | ENST00000447234.2,ENST00000320736.6,ENST00000445522.2 |
| 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 MUC20 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for MUC20 |
| 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 MUC20 |
| - 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-A39Y-01 | exon_skip_380641 | 195451551 | 195453443 | 195451713 | 195451713 | Frame_Shift_Del | C | - | p.T80fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_380641 | 195451551 | 195453443 | 195452018 | 195452018 | Frame_Shift_Del | A | - | p.S182fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_380641 | 195451551 | 195453443 | 195452634 | 195452634 | Frame_Shift_Del | C | - | p.A216fs |
| LUAD | TCGA-17-Z044-01 | exon_skip_380641 | 195451551 | 195453443 | 195452664 | 195452664 | Frame_Shift_Del | C | - | p.T226fs |
| LUAD | TCGA-17-Z062-01 | exon_skip_380641 | 195451551 | 195453443 | 195452664 | 195452664 | Frame_Shift_Del | C | - | p.T226fs |
| LUAD | TCGA-78-7150-01 | exon_skip_380641 | 195451551 | 195453443 | 195452664 | 195452664 | Frame_Shift_Del | C | - | p.T226fs |
| LUSC | TCGA-46-6026-01 | exon_skip_380641 | 195451551 | 195453443 | 195452664 | 195452664 | Frame_Shift_Del | C | - | p.T226fs |
| PAAD | TCGA-HZ-A49G-01 | exon_skip_380641 | 195451551 | 195453443 | 195452664 | 195452664 | Frame_Shift_Del | C | - | p.T226fs |
| SKCM | TCGA-ER-A199-06 | exon_skip_380641 | 195451551 | 195453443 | 195452664 | 195452664 | Frame_Shift_Del | C | - | p.T226fs |
| STAD | TCGA-VQ-AA6J-01 | exon_skip_380641 | 195451551 | 195453443 | 195452664 | 195452664 | Frame_Shift_Del | C | - | p.T226fs |
| THCA | TCGA-BJ-A2N9-01 | exon_skip_380641 | 195451551 | 195453443 | 195452664 | 195452664 | Frame_Shift_Del | C | - | p.T226fs |
| THCA | TCGA-ET-A2N4-01 | exon_skip_380641 | 195451551 | 195453443 | 195452664 | 195452664 | Frame_Shift_Del | C | - | p.T226fs |
| UCS | TCGA-QM-A5NM-01 | exon_skip_380641 | 195451551 | 195453443 | 195452664 | 195452664 | Frame_Shift_Del | C | - | p.T226fs |
| LIHC | TCGA-K7-A5RG-01 | exon_skip_380641 | 195451551 | 195453443 | 195452975 | 195452978 | Frame_Shift_Del | CCCA | - | p.329_330del |
| LIHC | TCGA-K7-A5RG-01 | exon_skip_380641 | 195451551 | 195453443 | 195452975 | 195452978 | Frame_Shift_Del | CCCA | - | p.PT330fs |
| HNSC | TCGA-BA-5153-01 | exon_skip_380641 | 195451551 | 195453443 | 195452996 | 195452997 | Frame_Shift_Del | AG | - | p.R337fs |
| COAD | TCGA-AM-5821-01 | exon_skip_380641 | 195451551 | 195453443 | 195453018 | 195453018 | Frame_Shift_Del | C | - | p.A309fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_380641 | 195451551 | 195453443 | 195453059 | 195453059 | Frame_Shift_Del | C | - | p.P358fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_380641 | 195451551 | 195453443 | 195453158 | 195453158 | Frame_Shift_Del | A | - | p.K391fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_380641 | 195451551 | 195453443 | 195453192 | 195453192 | Frame_Shift_Del | C | - | p.S402fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_380641 | 195451551 | 195453443 | 195453386 | 195453386 | Frame_Shift_Del | C | - | p.P468fs |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_380641 | 195451551 | 195453443 | 195451761 | 195451762 | Frame_Shift_Ins | - | A | p.TK96fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_380641 | 195451551 | 195453443 | 195452589 | 195452590 | Frame_Shift_Ins | - | C | p.A201fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_380641 | 195451551 | 195453443 | 195452756 | 195452757 | Frame_Shift_Ins | - | A | p.N257fs |
| HNSC | TCGA-CR-7371-01 | exon_skip_380641 | 195451551 | 195453443 | 195451995 | 195451995 | Nonsense_Mutation | C | G | p.S174* |
| LGG | TCGA-DU-6392-01 | exon_skip_380641 | 195451551 | 195453443 | 195453068 | 195453068 | Nonsense_Mutation | G | T | p.E361* |
| ACC | TCGA-OR-A5LJ-01 | exon_skip_380641 | 195451551 | 195453443 | 195453329 | 195453329 | Nonsense_Mutation | C | T | p.R413X |
| ACC | TCGA-OR-A5LJ-01 | exon_skip_380641 | 195451551 | 195453443 | 195453329 | 195453329 | Nonsense_Mutation | C | T | p.R448X |
| LUSC | TCGA-63-5128-01 | exon_skip_380641 | 195451551 | 195453443 | 195453329 | 195453329 | Nonsense_Mutation | C | T | p.R448* |
| PCPG | TCGA-RW-A67V-01 | exon_skip_380641 | 195451551 | 195453443 | 195453329 | 195453329 | Nonsense_Mutation | C | T | p.R448X |
| PCPG | TCGA-S7-A7X1-01 | exon_skip_380641 | 195451551 | 195453443 | 195453329 | 195453329 | Nonsense_Mutation | C | T | p.R448X |
| STAD | TCGA-D7-A6ET-01 | exon_skip_380641 | 195451551 | 195453443 | 195453329 | 195453329 | Nonsense_Mutation | C | T | p.R448X |
| - 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 |
| AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 195451551 | 195453443 | 195452566 | 195452567 | Frame_Shift_Del | AG | - | p.E365fs |
| KLE_ENDOMETRIUM | 195451551 | 195453443 | 195452623 | 195452626 | Frame_Shift_Del | AGAG | - | p.SE383fs |
| HSC4_UPPER_AERODIGESTIVE_TRACT | 195451551 | 195453443 | 195451563 | 195451563 | Missense_Mutation | G | A | p.R30H |
| SNU1197_LARGE_INTESTINE | 195451551 | 195453443 | 195451587 | 195451587 | Missense_Mutation | C | T | p.T38M |
| HCT15_LARGE_INTESTINE | 195451551 | 195453443 | 195451608 | 195451608 | Missense_Mutation | C | T | p.A45V |
| WM35_SKIN | 195451551 | 195453443 | 195451899 | 195451899 | Missense_Mutation | C | T | p.T142I |
| FADU_UPPER_AERODIGESTIVE_TRACT | 195451551 | 195453443 | 195451917 | 195451917 | Missense_Mutation | G | T | p.S148I |
| HCC2157_BREAST | 195451551 | 195453443 | 195451917 | 195451917 | Missense_Mutation | G | T | p.S148I |
| HEC151_ENDOMETRIUM | 195451551 | 195453443 | 195452001 | 195452001 | Missense_Mutation | G | A | p.S176N |
| C75_LARGE_INTESTINE | 195451551 | 195453443 | 195452015 | 195452015 | Missense_Mutation | G | A | p.D181N |
| WM278_SKIN | 195451551 | 195453443 | 195452801 | 195452801 | Missense_Mutation | G | A | p.D443N |
| RD_SOFT_TISSUE | 195451551 | 195453443 | 195452843 | 195452843 | Missense_Mutation | G | A | p.D457N |
| SNUC4_LARGE_INTESTINE | 195451551 | 195453443 | 195452943 | 195452943 | Missense_Mutation | C | T | p.A490V |
| TMK1_STOMACH | 195451551 | 195453443 | 195452975 | 195452975 | Missense_Mutation | C | T | p.P501S |
| YKG1_CENTRAL_NERVOUS_SYSTEM | 195451551 | 195453443 | 195453002 | 195453002 | Missense_Mutation | G | A | p.V510M |
| LB373MELD_SKIN | 195451551 | 195453443 | 195453131 | 195453131 | Missense_Mutation | T | A | p.S553T |
| SCC4_UPPER_AERODIGESTIVE_TRACT | 195451551 | 195453443 | 195453209 | 195453209 | Missense_Mutation | G | A | p.A579T |
| MDAMB453_BREAST | 195451551 | 195453443 | 195453245 | 195453245 | Missense_Mutation | A | T | p.T591S |
| SW684_SOFT_TISSUE | 195451551 | 195453443 | 195453296 | 195453296 | Missense_Mutation | C | T | p.P608S |
| HT115_LARGE_INTESTINE | 195451551 | 195453443 | 195453344 | 195453344 | Missense_Mutation | A | G | p.T624A |
| NB7_AUTONOMIC_GANGLIA | 195451551 | 195453443 | 195453428 | 195453428 | Missense_Mutation | A | G | p.T652A |
| AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 195456519 | 195456610 | 195456546 | 195456546 | Missense_Mutation | G | C | p.R666P |
| KYSE270_OESOPHAGUS | 195456519 | 195456610 | 195456546 | 195456546 | Missense_Mutation | G | C | p.R666P |
| FADU_UPPER_AERODIGESTIVE_TRACT | 195451551 | 195453443 | 195451745 | 195451745 | Nonsense_Mutation | G | T | p.E91* |
| OE21_OESOPHAGUS | 195451551 | 195453443 | 195452054 | 195452054 | Nonsense_Mutation | G | T | p.E194* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MUC20 |
| 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 MUC20 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MUC20 |
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RelatedDrugs for MUC20 |
| 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 MUC20 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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