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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 MKRN2 |
 Gene summary |
| Gene information | Gene symbol | MKRN2 | Gene ID | 23609 |
| Gene name | makorin ring finger protein 2 | |
| Synonyms | HSPC070|RNF62 | |
| Cytomap | 3p25.2 | |
| Type of gene | protein-coding | |
| Description | probable E3 ubiquitin-protein ligase makorin-2RING finger protein 62RING-type E3 ubiquitin transferase makorin-2makorin RING zinc-finger protein 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9H000 | |
| Context | PubMed: MKRN2 [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 MKRN2 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 MKRN2 |
| 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 MKRN2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_371808 | 3 | 12598588:12598675:12610373:12610496:12611569:12611751 | 12610373:12610496 | ENSG00000075975.11 | ENST00000448482.1 |
| exon_skip_371812 | 3 | 12616290:12616505:12618129:12618240:12623306:12623451 | 12618129:12618240 | ENSG00000075975.11 | ENST00000448482.1,ENST00000411987.1,ENST00000170447.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MKRN2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_371808 | 3 | 12598588:12598675:12610373:12610496:12611569:12611751 | 12610373:12610496 | ENSG00000075975.11 | ENST00000448482.1 |
| exon_skip_371812 | 3 | 12616290:12616505:12618129:12618240:12623306:12623451 | 12618129:12618240 | ENSG00000075975.11 | ENST00000170447.7,ENST00000411987.1,ENST00000448482.1 |
| 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 MKRN2 |
| 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 |
| ENST00000170447 | 12618129 | 12618240 | 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 |
| ENST00000170447 | 12618129 | 12618240 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MKRN2 |
| 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 |
| ENST00000170447 | 2865 | 416 | 12618129 | 12618240 | 995 | 1105 | 286 | 322 |
| 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 |
| ENST00000170447 | 2865 | 416 | 12618129 | 12618240 | 995 | 1105 | 286 | 322 |
| 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 |
| Q9H000 | 286 | 322 | 1 | 416 | Chain | ID=PRO_0000055955;Note=Probable E3 ubiquitin-protein ligase makorin-2 |
| Q9H000 | 286 | 322 | 238 | 292 | Zinc finger | Note=RING-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00175 |
| Q9H000 | 286 | 322 | 321 | 350 | Zinc finger | Note=C3H1-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
| 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 |
| Q9H000 | 286 | 322 | 1 | 416 | Chain | ID=PRO_0000055955;Note=Probable E3 ubiquitin-protein ligase makorin-2 |
| Q9H000 | 286 | 322 | 238 | 292 | Zinc finger | Note=RING-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00175 |
| Q9H000 | 286 | 322 | 321 | 350 | Zinc finger | Note=C3H1-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
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SNVs in the skipped exons for MKRN2 |
| - 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 |
| - 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 |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12610374 | 12610496 | 12610474 | 12610474 | Missense_Mutation | G | T | p.G43C |
| HCC2998_LARGE_INTESTINE | 12618130 | 12618240 | 12618205 | 12618205 | Missense_Mutation | G | T | p.K311N |
| SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12618130 | 12618240 | 12618188 | 12618188 | Nonsense_Mutation | G | T | p.E306* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MKRN2 |
| 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 MKRN2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MKRN2 |
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RelatedDrugs for MKRN2 |
| 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 MKRN2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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