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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 ESCO2 |
 Gene summary |
| Gene information | Gene symbol | ESCO2 | Gene ID | 157570 |
| Gene name | establishment of sister chromatid cohesion N-acetyltransferase 2 | |
| Synonyms | 2410004I17Rik|EFO2|RBS | |
| Cytomap | 8p21.1 | |
| Type of gene | protein-coding | |
| Description | N-acetyltransferase ESCO2ECO1 homolog 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q56NI9 | |
| Context | PubMed: ESCO2 [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 ESCO2 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 ESCO2 |
| 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 ESCO2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_482452 | 8 | 27637715:27637784:27641516:27641574:27645401:27645519 | 27641516:27641574 | ENSG00000171320.10 | ENST00000518262.1,ENST00000305188.8 |
| exon_skip_482454 | 8 | 27645401:27645519:27646363:27646495:27649479:27649569 | 27646363:27646495 | ENSG00000171320.10 | ENST00000518262.1,ENST00000305188.8,ENST00000397418.2,ENST00000522378.1 |
| exon_skip_482455 | 8 | 27649479:27649569:27650184:27650328:27657057:27657118 | 27650184:27650328 | ENSG00000171320.10 | ENST00000305188.8,ENST00000397418.2,ENST00000522378.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ESCO2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_482452 | 8 | 27637715:27637784:27641516:27641574:27645401:27645519 | 27641516:27641574 | ENSG00000171320.10 | ENST00000305188.8,ENST00000518262.1 |
| exon_skip_482455 | 8 | 27649479:27649569:27650184:27650328:27657057:27657118 | 27650184:27650328 | ENSG00000171320.10 | ENST00000305188.8,ENST00000522378.1,ENST00000397418.2 |
| 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 ESCO2 |
| 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 |
| ENST00000305188 | 27641516 | 27641574 | Frame-shift |
| ENST00000305188 | 27646363 | 27646495 | In-frame |
| ENST00000305188 | 27650184 | 27650328 | 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 |
| ENST00000305188 | 27641516 | 27641574 | Frame-shift |
| ENST00000305188 | 27650184 | 27650328 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ESCO2 |
| 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 |
| ENST00000305188 | 3939 | 601 | 27646363 | 27646495 | 1370 | 1501 | 377 | 421 |
| ENST00000305188 | 3939 | 601 | 27650184 | 27650328 | 1592 | 1735 | 451 | 499 |
| 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 |
| ENST00000305188 | 3939 | 601 | 27650184 | 27650328 | 1592 | 1735 | 451 | 499 |
| 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 |
| Q56NI9 | 377 | 421 | 1 | 601 | Chain | ID=PRO_0000074542;Note=N-acetyltransferase ESCO2 |
| Q56NI9 | 377 | 421 | 387 | 411 | Zinc finger | Note=CCHH-type |
| Q56NI9 | 451 | 499 | 1 | 601 | Chain | ID=PRO_0000074542;Note=N-acetyltransferase ESCO2 |
| 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 |
| Q56NI9 | 451 | 499 | 1 | 601 | Chain | ID=PRO_0000074542;Note=N-acetyltransferase ESCO2 |
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SNVs in the skipped exons for ESCO2 |
| - 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. |
ESCO2_COAD_exon_skip_482455_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 |
| HNSC | TCGA-CR-7402-01 | exon_skip_482452 | 27641517 | 27641574 | 27641568 | 27641569 | Frame_Shift_Ins | - | A | p.*336fs |
| HNSC | TCGA-CR-7402-01 | exon_skip_482452 | 27641517 | 27641574 | 27641568 | 27641569 | Frame_Shift_Ins | - | A | p.S336fs |
| COAD | TCGA-CA-6717-01 | exon_skip_482455 | 27650185 | 27650328 | 27650200 | 27650200 | Nonsense_Mutation | G | T | p.E457X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CA-6717-01 |
| Cancer type: COAD | |
| ESID: exon_skip_482455 | |
| Skipped exon start: 27650185 | |
| Skipped exon end: 27650328 | |
| Mutation start: 27650200 | |
| Mutation end: 27650200 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E457X | |
exon_skip_107202_COAD_TCGA-CA-6717-01.png | |
exon_skip_135085_COAD_TCGA-CA-6717-01.png | |
exon_skip_284772_COAD_TCGA-CA-6717-01.png | |
exon_skip_28826_COAD_TCGA-CA-6717-01.png | |
exon_skip_304901_COAD_TCGA-CA-6717-01.png | |
exon_skip_430052_COAD_TCGA-CA-6717-01.png | |
exon_skip_430053_COAD_TCGA-CA-6717-01.png | |
exon_skip_433462_COAD_TCGA-CA-6717-01.png | |
exon_skip_439050_COAD_TCGA-CA-6717-01.png | |
exon_skip_482455_COAD_TCGA-CA-6717-01.png | |
exon_skip_503414_COAD_TCGA-CA-6717-01.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 |
| JHUEM7_ENDOMETRIUM | 27650185 | 27650328 | 27650262 | 27650262 | Missense_Mutation | A | C | p.K477N |
| SJSA1_BONE | 27650185 | 27650328 | 27650185 | 27650185 | Splice_Site | G | T | p.V452L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ESCO2 |
| 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 ESCO2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ESCO2 |
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RelatedDrugs for ESCO2 |
| 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 ESCO2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ESCO2 | C0392475 | Roberts-SC phocomelia syndrome | 4 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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