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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 MUC17 |
 Gene summary |
| Gene information | Gene symbol | MUC17 | Gene ID | 140453 |
| Gene name | mucin 17, cell surface associated | |
| Synonyms | MUC-17|MUC-3|MUC3 | |
| Cytomap | 7q22.1 | |
| Type of gene | protein-coding | |
| Description | mucin-17membrane mucin MUC17secreted mucin MUC17small intestinal mucin MUC3small intestinal mucin-3 | |
| Modification date | 20180329 | |
| UniProtAcc | Q685J3 | |
| Context | PubMed: MUC17 [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 MUC17 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 MUC17 |
| 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 MUC17 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_469883 | 7 | 100692125:100692253:100692604:100692663:100694893:100694962 | 100692604:100692663 | ENSG00000169876.9 | ENST00000379439.3 |
| exon_skip_469885 | 7 | 100692604:100692663:100693764:100693916:100694893:100694962 | 100693764:100693916 | ENSG00000169876.9 | ENST00000306151.4 |
| exon_skip_469886 | 7 | 100695083:100695243:100696266:100696428:100696619:100696717 | 100696266:100696428 | ENSG00000169876.9 | ENST00000379439.3,ENST00000306151.4 |
| exon_skip_469887 | 7 | 100696619:100696717:100699474:100699551:100701283:100702020 | 100699474:100699551 | ENSG00000169876.9 | ENST00000379439.3,ENST00000306151.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MUC17 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_469885 | 7 | 100692604:100692663:100693764:100693916:100694893:100694962 | 100693764:100693916 | ENSG00000169876.9 | ENST00000306151.4 |
| exon_skip_469887 | 7 | 100696619:100696717:100699474:100699551:100701283:100702020 | 100699474:100699551 | ENSG00000169876.9 | ENST00000306151.4,ENST00000379439.3 |
| 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 MUC17 |
| 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 |
| ENST00000306151 | 100693764 | 100693916 | Frame-shift |
| ENST00000306151 | 100699474 | 100699551 | Frame-shift |
| ENST00000306151 | 100696266 | 100696428 | 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 |
| ENST00000306151 | 100693764 | 100693916 | Frame-shift |
| ENST00000306151 | 100699474 | 100699551 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for MUC17 |
| 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 |
| ENST00000306151 | 14258 | 4493 | 100696266 | 100696428 | 13168 | 13329 | 4368 | 4421 |
| 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 |
| Q685J3 | 4368 | 4421 | 4363 | 4493 | Alternative sequence | ID=VSP_032649;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16737958;Dbxref=PMID:16737958 |
| Q685J3 | 4368 | 4421 | 26 | 4493 | Chain | ID=PRO_0000326254;Note=Mucin-17 |
| Q685J3 | 4368 | 4421 | 26 | 4393 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q685J3 | 4368 | 4421 | 4415 | 4493 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q685J3 | 4368 | 4421 | 4394 | 4414 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 MUC17 |
| - 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_469886 | 100696267 | 100696428 | 100696348 | 100696348 | Frame_Shift_Del | G | - | p.V4395fs |
| KIRC | TCGA-BP-4965-01 | exon_skip_469886 | 100696267 | 100696428 | 100696355 | 100696355 | Frame_Shift_Del | G | - | p.G4398fs |
| BRCA | TCGA-A8-A08L-01 | exon_skip_469883 | 100692605 | 100692663 | 100692662 | 100692662 | Nonsense_Mutation | C | T | p.R4241* |
| LUAD | TCGA-69-7980-01 | exon_skip_469885 | 100693765 | 100693916 | 100693917 | 100693917 | Splice_Site | G | T | p.D4292_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 |
| PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT | 100693765 | 100693916 | 100693897 | 100693897 | Missense_Mutation | G | C | p.M4285I |
| HEC1A_ENDOMETRIUM | 100696267 | 100696428 | 100696271 | 100696271 | Missense_Mutation | G | A | p.V4370M |
| TUHR10TKB_KIDNEY | 100696267 | 100696428 | 100696278 | 100696278 | Missense_Mutation | C | T | p.T4372M |
| KATOIII_STOMACH | 100696267 | 100696428 | 100696278 | 100696278 | Missense_Mutation | C | T | p.T4372M |
| KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100696267 | 100696428 | 100696278 | 100696278 | Missense_Mutation | C | T | p.T4372M |
| OVTOKO_OVARY | 100696267 | 100696428 | 100696301 | 100696301 | Missense_Mutation | G | C | p.E4380Q |
| SKNSH_AUTONOMIC_GANGLIA | 100696267 | 100696428 | 100696353 | 100696353 | Missense_Mutation | C | A | p.A4397E |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100696267 | 100696428 | 100696413 | 100696413 | Missense_Mutation | A | T | p.K4417M |
| NCIH2172_LUNG | 100699475 | 100699551 | 100699537 | 100699537 | Missense_Mutation | G | C | p.D4476H |
| SNU175_LARGE_INTESTINE | 100692605 | 100692663 | 100692663 | 100692663 | Splice_Site | G | A | p.R4241H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MUC17 |
| 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 MUC17 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MUC17 |
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RelatedDrugs for MUC17 |
| 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 MUC17 |
| 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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