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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 MIDN |
 Gene summary |
| Gene information | Gene symbol | MIDN | Gene ID | 90007 |
| Gene name | midnolin | |
| Synonyms | - | |
| Cytomap | 19p13.3 | |
| Type of gene | protein-coding | |
| Description | midnolinmidbrain nucleolar protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q504T8 | |
| Context | PubMed: MIDN [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 MIDN 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 MIDN |
| 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 MIDN |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_300449 | 19 | 1249888:1250528:1251560:1251648:1251837:1251900 | 1251560:1251648 | ENSG00000167470.8 | ENST00000586757.1,ENST00000300952.2,ENST00000591446.2 |
| exon_skip_300457 | 19 | 1251620:1251648:1251837:1251900:1254165:1254236 | 1251837:1251900 | ENSG00000167470.8 | ENST00000300952.2,ENST00000591302.1,ENST00000591446.2 |
| exon_skip_300458 | 19 | 1251837:1251900:1253952:1254081:1254165:1254236 | 1253952:1254081 | ENSG00000167470.8 | ENST00000586843.1 |
| exon_skip_300459 | 19 | 1251837:1251900:1254165:1254477:1254900:1255060 | 1254165:1254477 | ENSG00000167470.8 | ENST00000300952.2,ENST00000591446.2 |
| exon_skip_300467 | 19 | 1254903:1255060:1255420:1255693:1256993:1259139 | 1255420:1255693 | ENSG00000167470.8 | ENST00000300952.2,ENST00000591446.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MIDN |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_300449 | 19 | 1249888:1250528:1251560:1251648:1251837:1251900 | 1251560:1251648 | ENSG00000167470.8 | ENST00000586757.1,ENST00000300952.2,ENST00000591446.2 |
| exon_skip_300457 | 19 | 1251620:1251648:1251837:1251900:1254165:1254236 | 1251837:1251900 | ENSG00000167470.8 | ENST00000300952.2,ENST00000591446.2,ENST00000591302.1 |
| exon_skip_300458 | 19 | 1251837:1251900:1253952:1254081:1254165:1254236 | 1253952:1254081 | ENSG00000167470.8 | ENST00000586843.1 |
| exon_skip_300459 | 19 | 1251837:1251900:1254165:1254477:1254900:1255060 | 1254165:1254477 | ENSG00000167470.8 | ENST00000300952.2,ENST00000591446.2 |
| exon_skip_300467 | 19 | 1254903:1255060:1255420:1255693:1256993:1259139 | 1255420:1255693 | ENSG00000167470.8 | ENST00000300952.2,ENST00000591446.2 |
| 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 MIDN |
| 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 |
| ENST00000300952 | 1251560 | 1251648 | Frame-shift |
| ENST00000591446 | 1251560 | 1251648 | Frame-shift |
| ENST00000300952 | 1251837 | 1251900 | In-frame |
| ENST00000591446 | 1251837 | 1251900 | In-frame |
| ENST00000300952 | 1254165 | 1254477 | In-frame |
| ENST00000591446 | 1254165 | 1254477 | In-frame |
| ENST00000300952 | 1255420 | 1255693 | In-frame |
| ENST00000591446 | 1255420 | 1255693 | 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 |
| ENST00000300952 | 1251560 | 1251648 | Frame-shift |
| ENST00000591446 | 1251560 | 1251648 | Frame-shift |
| ENST00000300952 | 1251837 | 1251900 | In-frame |
| ENST00000591446 | 1251837 | 1251900 | In-frame |
| ENST00000300952 | 1254165 | 1254477 | In-frame |
| ENST00000591446 | 1254165 | 1254477 | In-frame |
| ENST00000300952 | 1255420 | 1255693 | In-frame |
| ENST00000591446 | 1255420 | 1255693 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MIDN |
| 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 |
| ENST00000300952 | 3807 | 468 | 1251837 | 1251900 | 837 | 899 | 107 | 128 |
| ENST00000591446 | 3704 | 468 | 1251837 | 1251900 | 731 | 793 | 107 | 128 |
| ENST00000300952 | 3807 | 468 | 1254165 | 1254477 | 900 | 1211 | 128 | 232 |
| ENST00000591446 | 3704 | 468 | 1254165 | 1254477 | 794 | 1105 | 128 | 232 |
| ENST00000300952 | 3807 | 468 | 1255420 | 1255693 | 1372 | 1644 | 285 | 376 |
| ENST00000591446 | 3704 | 468 | 1255420 | 1255693 | 1266 | 1538 | 285 | 376 |
| 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 |
| ENST00000300952 | 3807 | 468 | 1251837 | 1251900 | 837 | 899 | 107 | 128 |
| ENST00000591446 | 3704 | 468 | 1251837 | 1251900 | 731 | 793 | 107 | 128 |
| ENST00000300952 | 3807 | 468 | 1254165 | 1254477 | 900 | 1211 | 128 | 232 |
| ENST00000591446 | 3704 | 468 | 1254165 | 1254477 | 794 | 1105 | 128 | 232 |
| ENST00000300952 | 3807 | 468 | 1255420 | 1255693 | 1372 | 1644 | 285 | 376 |
| ENST00000591446 | 3704 | 468 | 1255420 | 1255693 | 1266 | 1538 | 285 | 376 |
| 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 |
| Q504T8 | 107 | 128 | 1 | 468 | Chain | ID=PRO_0000287536;Note=Midnolin |
| Q504T8 | 107 | 128 | 1 | 468 | Chain | ID=PRO_0000287536;Note=Midnolin |
| Q504T8 | 128 | 232 | 1 | 468 | Chain | ID=PRO_0000287536;Note=Midnolin |
| Q504T8 | 128 | 232 | 1 | 468 | Chain | ID=PRO_0000287536;Note=Midnolin |
| Q504T8 | 285 | 376 | 1 | 468 | Chain | ID=PRO_0000287536;Note=Midnolin |
| Q504T8 | 285 | 376 | 1 | 468 | Chain | ID=PRO_0000287536;Note=Midnolin |
| 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 |
| Q504T8 | 107 | 128 | 1 | 468 | Chain | ID=PRO_0000287536;Note=Midnolin |
| Q504T8 | 107 | 128 | 1 | 468 | Chain | ID=PRO_0000287536;Note=Midnolin |
| Q504T8 | 128 | 232 | 1 | 468 | Chain | ID=PRO_0000287536;Note=Midnolin |
| Q504T8 | 128 | 232 | 1 | 468 | Chain | ID=PRO_0000287536;Note=Midnolin |
| Q504T8 | 285 | 376 | 1 | 468 | Chain | ID=PRO_0000287536;Note=Midnolin |
| Q504T8 | 285 | 376 | 1 | 468 | Chain | ID=PRO_0000287536;Note=Midnolin |
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SNVs in the skipped exons for MIDN |
| - 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. |
MIDN_PCPG_exon_skip_300459_psi_boxplot.png |
MIDN_SKCM_exon_skip_300457_psi_boxplot.png |
MIDN_STAD_exon_skip_300459_psi_boxplot.png |
| - 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 |
| STAD | TCGA-BR-8487-01 | exon_skip_300459 | 1254166 | 1254477 | 1254338 | 1254338 | Frame_Shift_Del | C | - | p.S186fs |
| THYM | TCGA-ZB-A962-01 | exon_skip_300459 | 1254166 | 1254477 | 1254384 | 1254384 | Frame_Shift_Del | C | - | p.V201fs |
| KIRP | TCGA-Y8-A895-01 | exon_skip_300449 | 1251561 | 1251648 | 1251579 | 1251580 | Frame_Shift_Ins | - | C | p.K84fs |
| BLCA | TCGA-KQ-A41N-01 | exon_skip_300459 | 1254166 | 1254477 | 1254316 | 1254317 | Frame_Shift_Ins | - | GG | p.R179fs |
| PCPG | TCGA-WB-A80Y-01 | exon_skip_300459 | 1254166 | 1254477 | 1254406 | 1254407 | Frame_Shift_Ins | - | C | p.P209fs |
| SKCM | TCGA-EE-A29D-06 | exon_skip_300457 | 1251838 | 1251900 | 1251902 | 1251902 | Splice_Site | T | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-WB-A80Y-01 |
| Cancer type: PCPG | |
| ESID: exon_skip_300459 | |
| Skipped exon start: 1254166 | |
| Skipped exon end: 1254477 | |
| Mutation start: 1254406 | |
| Mutation end: 1254407 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.P209fs | |
exon_skip_300459_PCPG_TCGA-WB-A80Y-01.png | |
 | Sample: TCGA-EE-A29D-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_300457 | |
| Skipped exon start: 1251838 | |
| Skipped exon end: 1251900 | |
| Mutation start: 1251902 | |
| Mutation end: 1251902 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: C | |
| AAchange: . | |
exon_skip_300457_SKCM_TCGA-EE-A29D-06.png | |
exon_skip_318649_SKCM_TCGA-EE-A29D-06.png | |
exon_skip_318650_SKCM_TCGA-EE-A29D-06.png | |
exon_skip_318651_SKCM_TCGA-EE-A29D-06.png | |
exon_skip_423582_SKCM_TCGA-EE-A29D-06.png | |
exon_skip_429570_SKCM_TCGA-EE-A29D-06.png | |
exon_skip_81936_SKCM_TCGA-EE-A29D-06.png | |
| - 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 |
| PACADD137_PANCREAS | 1254166 | 1254477 | 1254338 | 1254338 | Frame_Shift_Del | C | - | p.S186fs |
| HEC59_ENDOMETRIUM | 1254166 | 1254477 | 1254338 | 1254338 | Frame_Shift_Del | C | - | p.S186fs |
| LS180_LARGE_INTESTINE | 1254166 | 1254477 | 1254338 | 1254338 | Frame_Shift_Del | C | - | p.S186fs |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1254166 | 1254477 | 1254338 | 1254338 | Frame_Shift_Del | C | - | p.S186fs |
| NCIH1688_LUNG | 1251561 | 1251648 | 1251568 | 1251568 | Missense_Mutation | A | T | p.S81C |
| JHU028_LUNG | 1251561 | 1251648 | 1251637 | 1251637 | Missense_Mutation | G | C | p.A104P |
| SNUC5_LARGE_INTESTINE | 1251838 | 1251900 | 1251863 | 1251863 | Missense_Mutation | C | T | p.S116F |
| JEG3_PLACENTA | 1251838 | 1251900 | 1251880 | 1251880 | Missense_Mutation | G | C | p.E122Q |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1254166 | 1254477 | 1254188 | 1254188 | Missense_Mutation | G | A | p.R136H |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1254166 | 1254477 | 1254253 | 1254253 | Missense_Mutation | G | A | p.A158T |
| CL11_LARGE_INTESTINE | 1254166 | 1254477 | 1254262 | 1254262 | Missense_Mutation | G | A | p.A161T |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1254166 | 1254477 | 1254262 | 1254262 | Missense_Mutation | G | A | p.A161T |
| HEC251_ENDOMETRIUM | 1254166 | 1254477 | 1254280 | 1254280 | Missense_Mutation | C | T | p.H167Y |
| HARA_LUNG | 1254166 | 1254477 | 1254292 | 1254292 | Missense_Mutation | G | T | p.A171S |
| HEP3B217_LIVER | 1254166 | 1254477 | 1254320 | 1254320 | Missense_Mutation | G | A | p.G180E |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1254166 | 1254477 | 1254329 | 1254329 | Missense_Mutation | G | A | p.S183N |
| HEC108_ENDOMETRIUM | 1254166 | 1254477 | 1254338 | 1254338 | Missense_Mutation | C | T | p.S186F |
| KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1254166 | 1254477 | 1254341 | 1254341 | Missense_Mutation | C | A | p.P187H |
| DU145_PROSTATE | 1254166 | 1254477 | 1254361 | 1254361 | Missense_Mutation | C | T | p.P194S |
| OVMIU_OVARY | 1254166 | 1254477 | 1254466 | 1254466 | Missense_Mutation | A | G | p.T229A |
| IGROV1_OVARY | 1255421 | 1255693 | 1255424 | 1255424 | Missense_Mutation | C | T | p.T287M |
| PCI15A_UPPER_AERODIGESTIVE_TRACT | 1255421 | 1255693 | 1255474 | 1255474 | Missense_Mutation | G | A | p.G304S |
| FTC133_THYROID | 1255421 | 1255693 | 1255475 | 1255475 | Missense_Mutation | G | A | p.G304D |
| MDAPCA2B_PROSTATE | 1255421 | 1255693 | 1255510 | 1255510 | Missense_Mutation | G | A | p.A316T |
| MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1255421 | 1255693 | 1255564 | 1255564 | Missense_Mutation | G | A | p.A334T |
| NCIH2342_LUNG | 1255421 | 1255693 | 1255579 | 1255579 | Missense_Mutation | G | C | p.A339P |
| 786O_KIDNEY | 1255421 | 1255693 | 1255633 | 1255633 | Missense_Mutation | G | T | p.A357S |
| SNU407_LARGE_INTESTINE | 1255421 | 1255693 | 1255691 | 1255691 | Missense_Mutation | C | T | p.P376L |
| SNUC5_LARGE_INTESTINE | 1255421 | 1255693 | 1255691 | 1255691 | Missense_Mutation | C | T | p.P376L |
| M00921_SKIN | 1251561 | 1251648 | 1251561 | 1251561 | Splice_Site | C | T | p.T78T |
| U118MG_CENTRAL_NERVOUS_SYSTEM | 1251838 | 1251900 | 1251839 | 1251839 | Splice_Site | C | G | p.S108C |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1251838 | 1251900 | 1251839 | 1251839 | Splice_Site | C | G | p.S108C |
| NCIH2342_LUNG | 1251838 | 1251900 | 1251900 | 1251900 | Splice_Site | G | T | p.Q128H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MIDN |
| 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 MIDN |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MIDN |
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RelatedDrugs for MIDN |
| 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 MIDN |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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