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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 NMU |
Gene summary |
| Gene information | Gene symbol | NMU | Gene ID | 10874 |
| Gene name | neuromedin U | |
| Synonyms | - | |
| Cytomap | 4q12 | |
| Type of gene | protein-coding | |
| Description | neuromedin-Uneuromedin U precursor-related peptide/neuromedin U preproproteinprepro-NMU | |
| Modification date | 20180523 | |
| UniProtAcc | P48645 | |
| Context | PubMed: NMU [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 |
| NMU | GO:0007218 | neuropeptide signaling pathway | 10894543|11027493 |
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Exon skipping events across known transcript of Ensembl for NMU 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 NMU |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for NMU |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_429623 | 4 | 56466688:56466742:56471441:56471516:56473464:56473494 | 56471441:56471516 | ENSG00000109255.7 | ENST00000264218.3,ENST00000511469.1 |
| exon_skip_429624 | 4 | 56466688:56466742:56471441:56471516:56473603:56473633 | 56471441:56471516 | ENSG00000109255.7 | ENST00000515325.1 |
| exon_skip_429625 | 4 | 56466688:56466742:56471441:56471516:56475286:56475346 | 56471441:56471516 | ENSG00000109255.7 | ENST00000505262.1 |
| exon_skip_429627 | 4 | 56466688:56466742:56473464:56473515:56473603:56473633 | 56473464:56473515 | ENSG00000109255.7 | ENST00000507338.1 |
| exon_skip_429628 | 4 | 56466688:56466742:56473603:56473633:56475286:56475346 | 56473603:56473633 | ENSG00000109255.7 | ENST00000509371.1 |
| exon_skip_429630 | 4 | 56471441:56471516:56473464:56473515:56473603:56473633 | 56473464:56473515 | ENSG00000109255.7 | ENST00000264218.3,ENST00000511469.1 |
| exon_skip_429631 | 4 | 56471441:56471516:56473603:56473633:56475286:56475346 | 56473603:56473633 | ENSG00000109255.7 | ENST00000515325.1 |
| exon_skip_429633 | 4 | 56475286:56475346:56482504:56482552:56496568:56496627 | 56482504:56482552 | ENSG00000109255.7 | ENST00000264218.3,ENST00000515325.1,ENST00000505262.1,ENST00000507338.1,ENST00000509371.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NMU |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_429623 | 4 | 56466688:56466742:56471441:56471516:56473464:56473494 | 56471441:56471516 | ENSG00000109255.7 | ENST00000511469.1,ENST00000264218.3 |
| exon_skip_429624 | 4 | 56466688:56466742:56471441:56471516:56473603:56473633 | 56471441:56471516 | ENSG00000109255.7 | ENST00000515325.1 |
| exon_skip_429625 | 4 | 56466688:56466742:56471441:56471516:56475286:56475346 | 56471441:56471516 | ENSG00000109255.7 | ENST00000505262.1 |
| exon_skip_429627 | 4 | 56466688:56466742:56473464:56473515:56473603:56473633 | 56473464:56473515 | ENSG00000109255.7 | ENST00000507338.1 |
| exon_skip_429628 | 4 | 56466688:56466742:56473603:56473633:56475286:56475346 | 56473603:56473633 | ENSG00000109255.7 | ENST00000509371.1 |
| exon_skip_429630 | 4 | 56471441:56471516:56473464:56473515:56473603:56473633 | 56473464:56473515 | ENSG00000109255.7 | ENST00000511469.1,ENST00000264218.3 |
| exon_skip_429631 | 4 | 56471441:56471516:56473603:56473633:56475286:56475346 | 56473603:56473633 | ENSG00000109255.7 | ENST00000515325.1 |
| exon_skip_429633 | 4 | 56475286:56475346:56482504:56482552:56496568:56496627 | 56482504:56482552 | ENSG00000109255.7 | ENST00000264218.3,ENST00000505262.1,ENST00000507338.1,ENST00000515325.1,ENST00000509371.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for NMU |
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 |
| ENST00000264218 | 56471441 | 56471516 | In-frame |
| ENST00000264218 | 56473464 | 56473515 | In-frame |
| ENST00000264218 | 56482504 | 56482552 | 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 |
| ENST00000264218 | 56471441 | 56471516 | In-frame |
| ENST00000264218 | 56473464 | 56473515 | In-frame |
| ENST00000264218 | 56482504 | 56482552 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NMU |
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 |
| ENST00000264218 | 833 | 174 | 56482504 | 56482552 | 278 | 325 | 57 | 73 |
| ENST00000264218 | 833 | 174 | 56473464 | 56473515 | 416 | 466 | 103 | 120 |
| ENST00000264218 | 833 | 174 | 56471441 | 56471516 | 467 | 541 | 120 | 145 |
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 |
| ENST00000264218 | 833 | 174 | 56482504 | 56482552 | 278 | 325 | 57 | 73 |
| ENST00000264218 | 833 | 174 | 56473464 | 56473515 | 416 | 466 | 103 | 120 |
| ENST00000264218 | 833 | 174 | 56471441 | 56471516 | 467 | 541 | 120 | 145 |
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 |
| P48645 | 57 | 73 | 35 | 103 | Propeptide | ID=PRO_0000019772 |
| P48645 | 103 | 120 | 35 | 103 | Propeptide | ID=PRO_0000019772 |
| P48645 | 103 | 120 | 104 | 138 | Propeptide | ID=PRO_0000262495;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48645 | 120 | 145 | 142 | 166 | Peptide | ID=PRO_0000019773;Note=Neuromedin-U-25 |
| P48645 | 120 | 145 | 104 | 138 | Propeptide | ID=PRO_0000262495;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48645 | 120 | 145 | 139 | 141 | Propeptide | ID=PRO_0000262496;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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 |
| P48645 | 57 | 73 | 35 | 103 | Propeptide | ID=PRO_0000019772 |
| P48645 | 103 | 120 | 35 | 103 | Propeptide | ID=PRO_0000019772 |
| P48645 | 103 | 120 | 104 | 138 | Propeptide | ID=PRO_0000262495;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48645 | 120 | 145 | 142 | 166 | Peptide | ID=PRO_0000019773;Note=Neuromedin-U-25 |
| P48645 | 120 | 145 | 104 | 138 | Propeptide | ID=PRO_0000262495;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48645 | 120 | 145 | 139 | 141 | Propeptide | ID=PRO_0000262496;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for NMU |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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 |
| LUSC | TCGA-22-4599-01 | exon_skip_429623 exon_skip_429624 exon_skip_429625 | 56471442 | 56471516 | 56471492 | 56471492 | Nonsense_Mutation | G | A | p.Q129* |
- 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 |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56473465 | 56473515 | 56473503 | 56473503 | Missense_Mutation | A | G | p.Y108H |
| SW684_SOFT_TISSUE | 56473465 | 56473515 | 56473506 | 56473506 | Missense_Mutation | G | A | p.H107Y |
| HOP62_LUNG | 56473604 | 56473633 | 56473604 | 56473604 | Splice_Site | C | A | p.R103S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NMU |
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 NMU |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NMU |
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RelatedDrugs for NMU |
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 NMU |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |