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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 MYLIP |
 Gene summary |
| Gene information | Gene symbol | MYLIP | Gene ID | 29116 |
| Gene name | myosin regulatory light chain interacting protein | |
| Synonyms | IDOL|MIR | |
| Cytomap | 6p22.3 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase MYLIPE3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptorRING-type E3 ubiquitin transferase MYLIPband 4.1 superfamily member BZF1cellular modulator of immune recognition (c-MIR)inducible degrader | |
| Modification date | 20180523 | |
| UniProtAcc | Q8WY64 | |
| Context | PubMed: MYLIP [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 |
| MYLIP | GO:0016567 | protein ubiquitination | 14550572 |
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Exon skipping events across known transcript of Ensembl for MYLIP 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 MYLIP |
| 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 MYLIP |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_448047 | 6 | 16143250:16143448:16143929:16144094:16145127:16145548 | 16143929:16144094 | ENSG00000007944.10 | ENST00000349606.4,ENST00000356840.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MYLIP |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_448047 | 6 | 16143250:16143448:16143929:16144094:16145127:16145548 | 16143929:16144094 | ENSG00000007944.10 | ENST00000356840.3,ENST00000349606.4 |
| 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 MYLIP |
| 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 |
| ENST00000356840 | 16143929 | 16144094 | 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 |
| ENST00000356840 | 16143929 | 16144094 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MYLIP |
| 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 |
| ENST00000356840 | 1683 | 445 | 16143929 | 16144094 | 861 | 1025 | 221 | 275 |
| 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 |
| ENST00000356840 | 1683 | 445 | 16143929 | 16144094 | 861 | 1025 | 221 | 275 |
| 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 |
| Q8WY64 | 221 | 275 | 1 | 445 | Chain | ID=PRO_0000055972;Note=E3 ubiquitin-protein ligase MYLIP |
| Q8WY64 | 221 | 275 | 1 | 279 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| Q8WY64 | 221 | 275 | 265 | 265 | Mutagenesis | Note=Unable to clear LDLR from the plasma membrane. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22109552;Dbxref=PMID:22109552 |
| Q8WY64 | 221 | 275 | 269 | 269 | Mutagenesis | Note=Unable to clear LDLR from the plasma membrane. T->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22109552;Dbxref=PMID:22109552 |
| Q8WY64 | 221 | 275 | 262 | 263 | Sequence conflict | Note=SG->TR;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 |
| Q8WY64 | 221 | 275 | 1 | 445 | Chain | ID=PRO_0000055972;Note=E3 ubiquitin-protein ligase MYLIP |
| Q8WY64 | 221 | 275 | 1 | 279 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| Q8WY64 | 221 | 275 | 265 | 265 | Mutagenesis | Note=Unable to clear LDLR from the plasma membrane. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22109552;Dbxref=PMID:22109552 |
| Q8WY64 | 221 | 275 | 269 | 269 | Mutagenesis | Note=Unable to clear LDLR from the plasma membrane. T->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22109552;Dbxref=PMID:22109552 |
| Q8WY64 | 221 | 275 | 262 | 263 | Sequence conflict | Note=SG->TR;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for MYLIP |
| - 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 |
| BLCA | TCGA-FD-A3SS-01 | exon_skip_448047 | 16143930 | 16144094 | 16144013 | 16144022 | Frame_Shift_Del | TCGTGCTCTT | - | p.I249fs |
| BLCA | TCGA-FD-A3SS-01 | exon_skip_448047 | 16143930 | 16144094 | 16144013 | 16144022 | Frame_Shift_Del | TCGTGCTCTT | - | p.IVLL68fs |
| - 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 |
| SNU175_LARGE_INTESTINE | 16143930 | 16144094 | 16143986 | 16143986 | Missense_Mutation | C | T | p.T240M |
| SNU1040_LARGE_INTESTINE | 16143930 | 16144094 | 16144084 | 16144084 | Missense_Mutation | G | A | p.A273T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYLIP |
| 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 MYLIP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYLIP |
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RelatedDrugs for MYLIP |
| 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 MYLIP |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MYLIP | C0014175 | Endometriosis | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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