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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 ESPL1 |
 Gene summary |
| Gene information | Gene symbol | ESPL1 | Gene ID | 9700 |
| Gene name | extra spindle pole bodies like 1, separase | |
| Synonyms | ESP1|SEPA | |
| Cytomap | 12q13.13 | |
| Type of gene | protein-coding | |
| Description | separincaspase-like protein ESPL1extra spindle pole bodies 1, separaseextra spindle pole bodies homolog 1extra spindle poles like 1extra spindle poles-like 1 proteinseparin, cysteine protease | |
| Modification date | 20180523 | |
| UniProtAcc | Q14674 | |
| Context | PubMed: ESPL1 [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 ESPL1 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 ESPL1 |
| 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 ESPL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_82990 | 12 | 53662807:53663869:53664161:53664266:53664461:53664582 | 53664161:53664266 | ENSG00000135476.7 | ENST00000552462.1,ENST00000257934.4,ENST00000552671.1 |
| exon_skip_82991 | 12 | 53664161:53664266:53664461:53664582:53666504:53666641 | 53664461:53664582 | ENSG00000135476.7 | ENST00000552462.1,ENST00000257934.4,ENST00000552671.1 |
| exon_skip_82992 | 12 | 53664461:53664582:53666504:53666641:53668600:53668736 | 53666504:53666641 | ENSG00000135476.7 | ENST00000552462.1,ENST00000257934.4,ENST00000552671.1 |
| exon_skip_82995 | 12 | 53666504:53666641:53668600:53668794:53670403:53670643 | 53668600:53668794 | ENSG00000135476.7 | ENST00000552462.1,ENST00000257934.4,ENST00000552671.1 |
| exon_skip_82997 | 12 | 53670403:53670643:53670866:53671011:53671253:53671392 | 53670866:53671011 | ENSG00000135476.7 | ENST00000552462.1,ENST00000257934.4,ENST00000552671.1 |
| exon_skip_82998 | 12 | 53675290:53675410:53676047:53676219:53676912:53677041 | 53676047:53676219 | ENSG00000135476.7 | ENST00000535123.2,ENST00000552462.1,ENST00000257934.4,ENST00000552671.1 |
| exon_skip_82999 | 12 | 53677841:53677951:53679707:53680696:53681755:53682108 | 53679707:53680696 | ENSG00000135476.7 | ENST00000552462.1,ENST00000257934.4,ENST00000552671.1 |
| exon_skip_83002 | 12 | 53682321:53682483:53682873:53683087:53683187:53683244 | 53682873:53683087 | ENSG00000135476.7 | ENST00000552462.1,ENST00000257934.4,ENST00000552671.1,ENST00000552600.1 |
| exon_skip_83003 | 12 | 53683187:53683378:53683868:53683996:53684130:53684253 | 53683868:53683996 | ENSG00000135476.7 | ENST00000552462.1,ENST00000257934.4,ENST00000552671.1 |
| exon_skip_83010 | 12 | 53683868:53683996:53684130:53684253:53684624:53684780 | 53684130:53684253 | ENSG00000135476.7 | ENST00000552462.1,ENST00000257934.4,ENST00000552671.1 |
| exon_skip_83013 | 12 | 53685473:53685644:53685767:53685872:53686061:53686177 | 53685767:53685872 | ENSG00000135476.7 | ENST00000549154.1,ENST00000552462.1,ENST00000257934.4,ENST00000552671.1 |
| exon_skip_83016 | 12 | 53685767:53685872:53686061:53686177:53686357:53686441 | 53686061:53686177 | ENSG00000135476.7 | ENST00000549154.1,ENST00000552462.1,ENST00000257934.4,ENST00000552671.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ESPL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_82990 | 12 | 53662807:53663869:53664161:53664266:53664461:53664582 | 53664161:53664266 | ENSG00000135476.7 | ENST00000257934.4,ENST00000552671.1,ENST00000552462.1 |
| exon_skip_82991 | 12 | 53664161:53664266:53664461:53664582:53666504:53666641 | 53664461:53664582 | ENSG00000135476.7 | ENST00000257934.4,ENST00000552671.1,ENST00000552462.1 |
| exon_skip_82992 | 12 | 53664461:53664582:53666504:53666641:53668600:53668736 | 53666504:53666641 | ENSG00000135476.7 | ENST00000257934.4,ENST00000552671.1,ENST00000552462.1 |
| exon_skip_82995 | 12 | 53666504:53666641:53668600:53668794:53670403:53670643 | 53668600:53668794 | ENSG00000135476.7 | ENST00000257934.4,ENST00000552671.1,ENST00000552462.1 |
| exon_skip_82997 | 12 | 53670403:53670643:53670866:53671011:53671253:53671392 | 53670866:53671011 | ENSG00000135476.7 | ENST00000257934.4,ENST00000552671.1,ENST00000552462.1 |
| exon_skip_82998 | 12 | 53675290:53675410:53676047:53676219:53676912:53677041 | 53676047:53676219 | ENSG00000135476.7 | ENST00000257934.4,ENST00000552671.1,ENST00000552462.1,ENST00000535123.2 |
| exon_skip_82999 | 12 | 53677841:53677951:53679707:53680696:53681755:53682108 | 53679707:53680696 | ENSG00000135476.7 | ENST00000257934.4,ENST00000552671.1,ENST00000552462.1 |
| exon_skip_83002 | 12 | 53682321:53682483:53682873:53683087:53683187:53683244 | 53682873:53683087 | ENSG00000135476.7 | ENST00000257934.4,ENST00000552671.1,ENST00000552462.1,ENST00000552600.1 |
| exon_skip_83003 | 12 | 53683187:53683378:53683868:53683996:53684130:53684253 | 53683868:53683996 | ENSG00000135476.7 | ENST00000257934.4,ENST00000552671.1,ENST00000552462.1 |
| exon_skip_83010 | 12 | 53683868:53683996:53684130:53684253:53684624:53684780 | 53684130:53684253 | ENSG00000135476.7 | ENST00000257934.4,ENST00000552671.1,ENST00000552462.1 |
| exon_skip_83016 | 12 | 53685767:53685872:53686061:53686177:53686357:53686441 | 53686061:53686177 | ENSG00000135476.7 | ENST00000257934.4,ENST00000552671.1,ENST00000552462.1,ENST00000549154.1 |
| 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 ESPL1 |
| 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 |
| ENST00000257934 | 53664461 | 53664582 | Frame-shift |
| ENST00000552462 | 53664461 | 53664582 | Frame-shift |
| ENST00000257934 | 53666504 | 53666641 | Frame-shift |
| ENST00000552462 | 53666504 | 53666641 | Frame-shift |
| ENST00000257934 | 53668600 | 53668794 | Frame-shift |
| ENST00000552462 | 53668600 | 53668794 | Frame-shift |
| ENST00000257934 | 53670866 | 53671011 | Frame-shift |
| ENST00000552462 | 53670866 | 53671011 | Frame-shift |
| ENST00000257934 | 53676047 | 53676219 | Frame-shift |
| ENST00000552462 | 53676047 | 53676219 | Frame-shift |
| ENST00000257934 | 53679707 | 53680696 | Frame-shift |
| ENST00000552462 | 53679707 | 53680696 | Frame-shift |
| ENST00000257934 | 53682873 | 53683087 | Frame-shift |
| ENST00000552462 | 53682873 | 53683087 | Frame-shift |
| ENST00000257934 | 53683868 | 53683996 | Frame-shift |
| ENST00000552462 | 53683868 | 53683996 | Frame-shift |
| ENST00000257934 | 53686061 | 53686177 | Frame-shift |
| ENST00000552462 | 53686061 | 53686177 | Frame-shift |
| ENST00000257934 | 53664161 | 53664266 | In-frame |
| ENST00000552462 | 53664161 | 53664266 | In-frame |
| ENST00000257934 | 53684130 | 53684253 | In-frame |
| ENST00000552462 | 53684130 | 53684253 | In-frame |
| ENST00000257934 | 53685767 | 53685872 | In-frame |
| ENST00000552462 | 53685767 | 53685872 | 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 |
| ENST00000257934 | 53664461 | 53664582 | Frame-shift |
| ENST00000552462 | 53664461 | 53664582 | Frame-shift |
| ENST00000257934 | 53666504 | 53666641 | Frame-shift |
| ENST00000552462 | 53666504 | 53666641 | Frame-shift |
| ENST00000257934 | 53668600 | 53668794 | Frame-shift |
| ENST00000552462 | 53668600 | 53668794 | Frame-shift |
| ENST00000257934 | 53670866 | 53671011 | Frame-shift |
| ENST00000552462 | 53670866 | 53671011 | Frame-shift |
| ENST00000257934 | 53676047 | 53676219 | Frame-shift |
| ENST00000552462 | 53676047 | 53676219 | Frame-shift |
| ENST00000257934 | 53679707 | 53680696 | Frame-shift |
| ENST00000552462 | 53679707 | 53680696 | Frame-shift |
| ENST00000257934 | 53682873 | 53683087 | Frame-shift |
| ENST00000552462 | 53682873 | 53683087 | Frame-shift |
| ENST00000257934 | 53683868 | 53683996 | Frame-shift |
| ENST00000552462 | 53683868 | 53683996 | Frame-shift |
| ENST00000257934 | 53686061 | 53686177 | Frame-shift |
| ENST00000552462 | 53686061 | 53686177 | Frame-shift |
| ENST00000257934 | 53664161 | 53664266 | In-frame |
| ENST00000552462 | 53664161 | 53664266 | In-frame |
| ENST00000257934 | 53684130 | 53684253 | In-frame |
| ENST00000552462 | 53684130 | 53684253 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ESPL1 |
| 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 |
| ENST00000257934 | 6640 | 2120 | 53664161 | 53664266 | 1235 | 1339 | 381 | 416 |
| ENST00000552462 | 6464 | 2120 | 53664161 | 53664266 | 1228 | 1332 | 381 | 416 |
| ENST00000257934 | 6640 | 2120 | 53684130 | 53684253 | 5333 | 5455 | 1747 | 1788 |
| ENST00000552462 | 6464 | 2120 | 53684130 | 53684253 | 5326 | 5448 | 1747 | 1788 |
| ENST00000257934 | 6640 | 2120 | 53685767 | 53685872 | 5783 | 5887 | 1897 | 1932 |
| ENST00000552462 | 6464 | 2120 | 53685767 | 53685872 | 5776 | 5880 | 1897 | 1932 |
| 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 |
| ENST00000257934 | 6640 | 2120 | 53664161 | 53664266 | 1235 | 1339 | 381 | 416 |
| ENST00000552462 | 6464 | 2120 | 53664161 | 53664266 | 1228 | 1332 | 381 | 416 |
| ENST00000257934 | 6640 | 2120 | 53684130 | 53684253 | 5333 | 5455 | 1747 | 1788 |
| ENST00000552462 | 6464 | 2120 | 53684130 | 53684253 | 5326 | 5448 | 1747 | 1788 |
| 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 |
| Q14674 | 381 | 416 | 1 | 2120 | Chain | ID=PRO_0000205900;Note=Separin |
| Q14674 | 381 | 416 | 1 | 2120 | Chain | ID=PRO_0000205900;Note=Separin |
| Q14674 | 1747 | 1788 | 1 | 2120 | Chain | ID=PRO_0000205900;Note=Separin |
| Q14674 | 1747 | 1788 | 1 | 2120 | Chain | ID=PRO_0000205900;Note=Separin |
| Q14674 | 1897 | 1932 | 1 | 2120 | Chain | ID=PRO_0000205900;Note=Separin |
| Q14674 | 1897 | 1932 | 1 | 2120 | Chain | ID=PRO_0000205900;Note=Separin |
| 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 |
| Q14674 | 381 | 416 | 1 | 2120 | Chain | ID=PRO_0000205900;Note=Separin |
| Q14674 | 381 | 416 | 1 | 2120 | Chain | ID=PRO_0000205900;Note=Separin |
| Q14674 | 1747 | 1788 | 1 | 2120 | Chain | ID=PRO_0000205900;Note=Separin |
| Q14674 | 1747 | 1788 | 1 | 2120 | Chain | ID=PRO_0000205900;Note=Separin |
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SNVs in the skipped exons for ESPL1 |
| - 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. |
ESPL1_STAD_exon_skip_83002_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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_82990 | 53664162 | 53664266 | 53664241 | 53664241 | Frame_Shift_Del | T | - | p.V408fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_82999 | 53679708 | 53680696 | 53679784 | 53679784 | Frame_Shift_Del | C | - | p.V1088fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_82999 | 53679708 | 53680696 | 53679871 | 53679871 | Frame_Shift_Del | C | - | p.G1117fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_82999 | 53679708 | 53680696 | 53679908 | 53679908 | Frame_Shift_Del | A | - | p.K1130fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_82999 | 53679708 | 53680696 | 53680151 | 53680151 | Frame_Shift_Del | C | - | p.P1212fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_82999 | 53679708 | 53680696 | 53680338 | 53680338 | Frame_Shift_Del | C | - | p.A1273fs |
| COAD | TCGA-CM-6675-01 | exon_skip_82999 | 53679708 | 53680696 | 53680452 | 53680453 | Frame_Shift_Del | AG | - | p.1311_1311del |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_83002 | 53682874 | 53683087 | 53682883 | 53682883 | Frame_Shift_Del | C | - | p.T1573fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_83002 | 53682874 | 53683087 | 53682904 | 53682904 | Frame_Shift_Del | C | - | p.S1580fs |
| SKCM | TCGA-EB-A4OY-01 | exon_skip_82990 | 53664162 | 53664266 | 53664186 | 53664186 | Nonsense_Mutation | C | T | p.Q390* |
| SKCM | TCGA-EB-A4OY-01 | exon_skip_82990 | 53664162 | 53664266 | 53664186 | 53664186 | Nonsense_Mutation | C | T | p.Q390X |
| STAD | TCGA-D7-A6EY-01 | exon_skip_82992 | 53666505 | 53666641 | 53666523 | 53666523 | Nonsense_Mutation | T | A | p.L463* |
| STAD | TCGA-D7-A6EY-01 | exon_skip_82992 | 53666505 | 53666641 | 53666523 | 53666523 | Nonsense_Mutation | T | A | p.L463X |
| BLCA | TCGA-FD-A6TG-01 | exon_skip_82995 | 53668601 | 53668794 | 53668712 | 53668712 | Nonsense_Mutation | G | T | p.E540* |
| ESCA | TCGA-IG-A5S3-01 | exon_skip_82995 | 53668601 | 53668794 | 53668781 | 53668781 | Nonsense_Mutation | G | T | p.E563* |
| ESCA | TCGA-IG-A5S3-01 | exon_skip_82995 | 53668601 | 53668794 | 53668781 | 53668781 | Nonsense_Mutation | G | T | p.E563X |
| PAAD | TCGA-IB-7651-01 | exon_skip_82999 | 53679708 | 53680696 | 53680262 | 53680262 | Nonsense_Mutation | C | T | p.Q1248* |
| PAAD | TCGA-IB-7651-01 | exon_skip_82999 | 53679708 | 53680696 | 53680262 | 53680262 | Nonsense_Mutation | C | T | p.Q1248X |
| BRCA | TCGA-D8-A1JN-01 | exon_skip_82999 | 53679708 | 53680696 | 53680434 | 53680434 | Nonsense_Mutation | C | G | p.S1305* |
| LUAD | TCGA-55-7724-01 | exon_skip_83010 | 53684131 | 53684253 | 53684209 | 53684209 | Nonsense_Mutation | C | T | p.R1774* |
| SKCM | TCGA-EE-A29D-06 | exon_skip_83016 | 53686062 | 53686177 | 53686161 | 53686161 | Nonsense_Mutation | C | T | p.R1966* |
| UCEC | TCGA-AP-A056-01 | exon_skip_83016 | 53686062 | 53686177 | 53686161 | 53686161 | Nonsense_Mutation | C | T | p.R1966* |
| SKCM | TCGA-EE-A2A2-06 | exon_skip_82991 | 53664462 | 53664582 | 53664583 | 53664583 | Splice_Site | G | A | . |
| KIRC | TCGA-B8-4143-01 | exon_skip_83016 | 53686062 | 53686177 | 53686061 | 53686061 | Splice_Site | G | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-MX-A5UJ-01 |
| Cancer type: STAD | |
| ESID: exon_skip_83002 | |
| Skipped exon start: 53682874 | |
| Skipped exon end: 53683087 | |
| Mutation start: 53682904 | |
| Mutation end: 53682904 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S1580fs | |
exon_skip_135418_STAD_TCGA-MX-A5UJ-01.png | |
exon_skip_25303_STAD_TCGA-MX-A5UJ-01.png | |
exon_skip_302981_STAD_TCGA-MX-A5UJ-01.png | |
exon_skip_322889_STAD_TCGA-MX-A5UJ-01.png | |
exon_skip_322890_STAD_TCGA-MX-A5UJ-01.png | |
exon_skip_370065_STAD_TCGA-MX-A5UJ-01.png | |
exon_skip_437025_STAD_TCGA-MX-A5UJ-01.png | |
exon_skip_439048_STAD_TCGA-MX-A5UJ-01.png | |
exon_skip_442836_STAD_TCGA-MX-A5UJ-01.png | |
exon_skip_443160_STAD_TCGA-MX-A5UJ-01.png | |
exon_skip_458347_STAD_TCGA-MX-A5UJ-01.png | |
exon_skip_461292_STAD_TCGA-MX-A5UJ-01.png | |
exon_skip_474340_STAD_TCGA-MX-A5UJ-01.png | |
exon_skip_69055_STAD_TCGA-MX-A5UJ-01.png | |
exon_skip_77217_STAD_TCGA-MX-A5UJ-01.png | |
exon_skip_83002_STAD_TCGA-MX-A5UJ-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 |
| SNUC4_LARGE_INTESTINE | 53679708 | 53680696 | 53680025 | 53680025 | Frame_Shift_Del | G | - | p.G1169fs |
| 22RV1_PROSTATE | 53679708 | 53680696 | 53680151 | 53680151 | Frame_Shift_Del | C | - | p.P1212fs |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 53664162 | 53664266 | 53664165 | 53664165 | Missense_Mutation | T | C | p.Y383H |
| HCC1569_BREAST | 53664162 | 53664266 | 53664231 | 53664231 | Missense_Mutation | A | G | p.T405A |
| SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 53664162 | 53664266 | 53664262 | 53664262 | Missense_Mutation | G | T | p.C415F |
| MDAMB415_BREAST | 53664462 | 53664582 | 53664484 | 53664484 | Missense_Mutation | C | G | p.T424S |
| C33A_CERVIX | 53666505 | 53666641 | 53666548 | 53666548 | Missense_Mutation | G | T | p.K471N |
| HEC265_ENDOMETRIUM | 53666505 | 53666641 | 53666556 | 53666556 | Missense_Mutation | C | T | p.A474V |
| MM386_SKIN | 53666505 | 53666641 | 53666574 | 53666574 | Missense_Mutation | C | T | p.S480F |
| R262_CENTRAL_NERVOUS_SYSTEM | 53668601 | 53668794 | 53668626 | 53668626 | Missense_Mutation | T | C | p.V511A |
| HARA_LUNG | 53668601 | 53668794 | 53668651 | 53668651 | Missense_Mutation | A | T | p.K519N |
| D336MG_CENTRAL_NERVOUS_SYSTEM | 53668601 | 53668794 | 53668671 | 53668671 | Missense_Mutation | T | C | p.M526T |
| HT115_LARGE_INTESTINE | 53668601 | 53668794 | 53668745 | 53668745 | Missense_Mutation | C | T | p.R551W |
| JHUEM2_ENDOMETRIUM | 53668601 | 53668794 | 53668755 | 53668755 | Missense_Mutation | T | C | p.M554T |
| SUIT2_PANCREAS | 53668601 | 53668794 | 53668761 | 53668761 | Missense_Mutation | C | G | p.A556G |
| SUIT2_PANCREAS | 53668601 | 53668794 | 53668763 | 53668763 | Missense_Mutation | G | A | p.A557T |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 53670867 | 53671011 | 53670887 | 53670887 | Missense_Mutation | G | A | p.R654Q |
| NCIH2196_LUNG | 53670867 | 53671011 | 53670892 | 53670892 | Missense_Mutation | G | A | p.A656T |
| NCIH2196_LUNG | 53670867 | 53671011 | 53670892 | 53670893 | Missense_Mutation | GC | AA | p.A656N |
| NCIH2196_LUNG | 53670867 | 53671011 | 53670893 | 53670893 | Missense_Mutation | C | A | p.A656D |
| MKN74_STOMACH | 53676048 | 53676219 | 53676115 | 53676115 | Missense_Mutation | C | T | p.A896V |
| NCIH854_LUNG | 53676048 | 53676219 | 53676129 | 53676129 | Missense_Mutation | C | T | p.R901C |
| IM95_STOMACH | 53676048 | 53676219 | 53676172 | 53676172 | Missense_Mutation | C | A | p.P915Q |
| JHOS3_OVARY | 53679708 | 53680696 | 53679726 | 53679726 | Missense_Mutation | A | G | p.Q1069R |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 53679708 | 53680696 | 53679755 | 53679755 | Missense_Mutation | C | A | p.L1079M |
| HCT15_LARGE_INTESTINE | 53679708 | 53680696 | 53679808 | 53679808 | Missense_Mutation | G | T | p.E1096D |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 53679708 | 53680696 | 53679852 | 53679852 | Missense_Mutation | C | T | p.T1111I |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 53679708 | 53680696 | 53679888 | 53679888 | Missense_Mutation | C | T | p.T1123I |
| MERO83_LUNG | 53679708 | 53680696 | 53679908 | 53679908 | Missense_Mutation | A | G | p.K1130E |
| HEC1A_ENDOMETRIUM | 53679708 | 53680696 | 53680004 | 53680004 | Missense_Mutation | C | T | p.R1162C |
| HEC1_ENDOMETRIUM | 53679708 | 53680696 | 53680004 | 53680004 | Missense_Mutation | C | T | p.R1162C |
| HEC1B_ENDOMETRIUM | 53679708 | 53680696 | 53680004 | 53680004 | Missense_Mutation | C | T | p.R1162C |
| SNUC2A_LARGE_INTESTINE | 53679708 | 53680696 | 53680020 | 53680020 | Missense_Mutation | C | T | p.T1167M |
| SNUC2B_LARGE_INTESTINE | 53679708 | 53680696 | 53680020 | 53680020 | Missense_Mutation | C | T | p.T1167M |
| SNU1040_LARGE_INTESTINE | 53679708 | 53680696 | 53680020 | 53680020 | Missense_Mutation | C | T | p.T1167M |
| NCIH146_LUNG | 53679708 | 53680696 | 53680026 | 53680026 | Missense_Mutation | G | T | p.G1169V |
| SNU175_LARGE_INTESTINE | 53679708 | 53680696 | 53680073 | 53680073 | Missense_Mutation | C | A | p.Q1185K |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 53679708 | 53680696 | 53680166 | 53680166 | Missense_Mutation | C | T | p.P1216S |
| SNU1040_LARGE_INTESTINE | 53679708 | 53680696 | 53680289 | 53680289 | Missense_Mutation | C | T | p.R1257W |
| CAS1_CENTRAL_NERVOUS_SYSTEM | 53679708 | 53680696 | 53680304 | 53680304 | Missense_Mutation | G | C | p.E1262Q |
| EBC1_LUNG | 53679708 | 53680696 | 53680368 | 53680368 | Missense_Mutation | G | T | p.C1283F |
| SKLU1_LUNG | 53679708 | 53680696 | 53680392 | 53680392 | Missense_Mutation | C | T | p.S1291F |
| HS840T_FIBROBLAST | 53679708 | 53680696 | 53680402 | 53680402 | Missense_Mutation | G | T | p.W1294C |
| 639V_URINARY_TRACT | 53679708 | 53680696 | 53680491 | 53680491 | Missense_Mutation | C | T | p.A1324V |
| MM370_SKIN | 53679708 | 53680696 | 53680506 | 53680506 | Missense_Mutation | G | A | p.R1329H |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 53679708 | 53680696 | 53680506 | 53680506 | Missense_Mutation | G | A | p.R1329H |
| SKLU1_LUNG | 53679708 | 53680696 | 53680523 | 53680523 | Missense_Mutation | C | G | p.Q1335E |
| NB10_AUTONOMIC_GANGLIA | 53679708 | 53680696 | 53680529 | 53680529 | Missense_Mutation | G | T | p.G1337C |
| SNU719_STOMACH | 53679708 | 53680696 | 53680692 | 53680692 | Missense_Mutation | T | C | p.L1391P |
| NCIH128_LUNG | 53682874 | 53683087 | 53682990 | 53682990 | Missense_Mutation | G | T | p.G1609C |
| KMRC1_KIDNEY | 53683869 | 53683996 | 53683958 | 53683958 | Missense_Mutation | C | T | p.P1735S |
| MTA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 53684131 | 53684253 | 53684140 | 53684140 | Missense_Mutation | C | T | p.R1751C |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 53684131 | 53684253 | 53684161 | 53684161 | Missense_Mutation | G | C | p.D1758H |
| NCIH647_LUNG | 53684131 | 53684253 | 53684219 | 53684219 | Missense_Mutation | G | T | p.W1777L |
| LS180_LARGE_INTESTINE | 53684131 | 53684253 | 53684227 | 53684227 | Missense_Mutation | C | T | p.R1780W |
| HCT116_LARGE_INTESTINE | 53685768 | 53685872 | 53685817 | 53685817 | Missense_Mutation | C | A | p.P1914H |
| RT4_URINARY_TRACT | 53686062 | 53686177 | 53686074 | 53686074 | Missense_Mutation | C | G | p.P1937A |
| SISO_CERVIX | 53679708 | 53680696 | 53680401 | 53680401 | Nonsense_Mutation | G | A | p.W1294* |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 53679708 | 53680696 | 53680401 | 53680401 | Nonsense_Mutation | G | A | p.W1294* |
| NCIH2452_PLEURA | 53684131 | 53684253 | 53684216 | 53684216 | Nonsense_Mutation | G | A | p.W1776* |
| MM386_SKIN | 53686062 | 53686177 | 53686161 | 53686161 | Nonsense_Mutation | C | T | p.R1966* |
| LNCAPCLONEFGC_PROSTATE | 53670867 | 53671011 | 53670867 | 53670867 | Splice_Site | C | T | p.C647C |
| MCC26_SKIN | 53683869 | 53683996 | 53683996 | 53683996 | Splice_Site | G | A | p.K1747K |
| MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 53685768 | 53685872 | 53685643 | 53685765 | Splice_Site | AGGTAAGGAGCTGGGGCAGAGGGGCAGTGTCTAGTGGGGAGTGAATACCAACTCATCCCCATGCCCCTTCTGACTTCTGCATATACCTGGCTGGGGACAGTAACCTCTTAGTGCTTTTTGCCC | - | p.K1897del |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ESPL1 |
| 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 ESPL1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ESPL1 |
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RelatedDrugs for ESPL1 |
| 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 ESPL1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ESPL1 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| ESPL1 | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
| ESPL1 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| ESPL1 | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
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