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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 ENSA |
 Gene summary |
| Gene information | Gene symbol | ENSA | Gene ID | 2029 |
| Gene name | endosulfine alpha | |
| Synonyms | ARPP-19e | |
| Cytomap | 1q21.3 | |
| Type of gene | protein-coding | |
| Description | alpha-endosulfineendosulfine-alpha variant 1endosulfine-alpha variant 2endosulfine-alpha variant 3endosulfine-alpha variant 4endosulfine-alpha variant 5endosulfine-alpha variant 6 | |
| Modification date | 20180523 | |
| UniProtAcc | O43768 | |
| Context | PubMed: ENSA [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 |
| ENSA | GO:0050796 | regulation of insulin secretion | 9653196 |
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Exon skipping events across known transcript of Ensembl for ENSA 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 ENSA |
| 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 ENSA |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_30218 | 1 | 150595206:150595335:150598117:150598284:150599942:150600068 | 150598117:150598284 | ENSG00000143420.13 | ENST00000369014.5,ENST00000361532.5 |
| exon_skip_30224 | 1 | 150598194:150598284:150598954:150599002:150599787:150600068 | 150598954:150599002 | ENSG00000143420.13 | ENST00000509582.1 |
| exon_skip_30227 | 1 | 150598194:150598284:150598954:150599002:150599942:150600068 | 150598954:150599002 | ENSG00000143420.13 | ENST00000369016.4,ENST00000503241.1,ENST00000339643.5,ENST00000361631.5 |
| exon_skip_30232 | 1 | 150598187:150598284:150599787:150600068:150601889:150601978 | 150599787:150600068 | ENSG00000143420.13 | ENST00000503345.1 |
| exon_skip_30235 | 1 | 150598187:150598284:150599873:150600068:150601889:150601978 | 150599873:150600068 | ENSG00000143420.13 | ENST00000356527.5,ENST00000369009.3 |
| exon_skip_30236 | 1 | 150598187:150598284:150599942:150600068:150601889:150601978 | 150599942:150600068 | ENSG00000143420.13 | ENST00000369014.5,ENST00000271690.8 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ENSA |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_30218 | 1 | 150595206:150595335:150598117:150598284:150599942:150600068 | 150598117:150598284 | ENSG00000143420.13 | ENST00000369014.5,ENST00000361532.5 |
| exon_skip_30224 | 1 | 150598194:150598284:150598954:150599002:150599787:150600068 | 150598954:150599002 | ENSG00000143420.13 | ENST00000509582.1 |
| exon_skip_30227 | 1 | 150598194:150598284:150598954:150599002:150599942:150600068 | 150598954:150599002 | ENSG00000143420.13 | ENST00000369016.4,ENST00000361631.5,ENST00000339643.5,ENST00000503241.1 |
| exon_skip_30232 | 1 | 150598187:150598284:150599787:150600068:150601889:150601978 | 150599787:150600068 | ENSG00000143420.13 | ENST00000503345.1 |
| exon_skip_30235 | 1 | 150598187:150598284:150599873:150600068:150601889:150601978 | 150599873:150600068 | ENSG00000143420.13 | ENST00000369009.3,ENST00000356527.5 |
| exon_skip_30236 | 1 | 150598187:150598284:150599942:150600068:150601889:150601978 | 150599942:150600068 | ENSG00000143420.13 | ENST00000369014.5,ENST00000271690.8 |
| 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 ENSA |
| 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 |
| ENST00000369014 | 150598117 | 150598284 | Frame-shift |
| ENST00000369014 | 150599942 | 150600068 | 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 |
| ENST00000369014 | 150598117 | 150598284 | Frame-shift |
| ENST00000369014 | 150599942 | 150600068 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ENSA |
| 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 |
| ENST00000369014 | 2102 | 121 | 150599942 | 150600068 | 184 | 309 | 19 | 61 |
| 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 |
| ENST00000369014 | 2102 | 121 | 150599942 | 150600068 | 184 | 309 | 19 | 61 |
| 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 |
| 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 |
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SNVs in the skipped exons for ENSA |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_30218 | 150598118 | 150598284 | 150598123 | 150598123 | Frame_Shift_Del | A | - | p.L115fs |
| COAD | TCGA-AA-3492-01 | exon_skip_30218 | 150598118 | 150598284 | 150598168 | 150598169 | Frame_Shift_Ins | - | G | p.P100fs |
| LIHC | TCGA-DD-AAD8-01 | exon_skip_30227 exon_skip_30224 | 150598955 | 150599002 | 150598960 | 150598960 | Nonsense_Mutation | C | A | p.E76X |
| BLCA | TCGA-DK-A6B6-01 | exon_skip_30232 | 150599788 | 150600068 | 150599891 | 150599891 | Nonsense_Mutation | G | A | p.R79* |
| BLCA | TCGA-DK-A6B6-01 | exon_skip_30235 | 150599874 | 150600068 | 150599891 | 150599891 | Nonsense_Mutation | G | A | p.R79* |
| COAD | TCGA-CA-6718-01 | exon_skip_30232 | 150599788 | 150600068 | 150600053 | 150600053 | Nonsense_Mutation | C | A | p.E25X |
| COAD | TCGA-CA-6718-01 | exon_skip_30235 | 150599874 | 150600068 | 150600053 | 150600053 | Nonsense_Mutation | C | A | p.E25X |
| COAD | TCGA-CA-6718-01 | exon_skip_30236 | 150599943 | 150600068 | 150600053 | 150600053 | Nonsense_Mutation | C | A | p.E25X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-DD-AAD8-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_30224 | |
| Skipped exon start: 150598955 | |
| Skipped exon end: 150599002 | |
| Mutation start: 150598960 | |
| Mutation end: 150598960 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E76X | |
exon_skip_30224_LIHC_TCGA-DD-AAD8-01.png | |
exon_skip_30227_LIHC_TCGA-DD-AAD8-01.png | |
 | Sample: TCGA-DD-AAD8-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_30224 | |
| Skipped exon start: 150598955 | |
| Skipped exon end: 150599002 | |
| Mutation start: 150598960 | |
| Mutation end: 150598960 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E76X | |
| exon_skip_30224_LIHC_TCGA-DD-AAD8-01.png | |
| exon_skip_30227_LIHC_TCGA-DD-AAD8-01.png | |
 | Sample: TCGA-CA-6718-01 |
| Cancer type: COAD | |
| ESID: exon_skip_30235 | |
| Skipped exon start: 150599874 | |
| Skipped exon end: 150600068 | |
| Mutation start: 150600053 | |
| Mutation end: 150600053 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E25X | |
| Sample: TCGA-CA-6718-01 |
| Cancer type: COAD | |
| ESID: exon_skip_30232 | |
| Skipped exon start: 150599788 | |
| Skipped exon end: 150600068 | |
| Mutation start: 150600053 | |
| Mutation end: 150600053 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E25X | |
| Sample: TCGA-CA-6718-01 |
| Cancer type: COAD | |
| ESID: exon_skip_30236 | |
| Skipped exon start: 150599943 | |
| Skipped exon end: 150600068 | |
| Mutation start: 150600053 | |
| Mutation end: 150600053 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E25X | |
exon_skip_141986_COAD_TCGA-CA-6718-01.png | |
exon_skip_149207_COAD_TCGA-CA-6718-01.png | |
exon_skip_286384_COAD_TCGA-CA-6718-01.png | |
exon_skip_30232_COAD_TCGA-CA-6718-01.png | |
exon_skip_30235_COAD_TCGA-CA-6718-01.png | |
exon_skip_317435_COAD_TCGA-CA-6718-01.png | |
exon_skip_317461_COAD_TCGA-CA-6718-01.png | |
exon_skip_387073_COAD_TCGA-CA-6718-01.png | |
exon_skip_44936_COAD_TCGA-CA-6718-01.png | |
exon_skip_501551_COAD_TCGA-CA-6718-01.png | |
exon_skip_86037_COAD_TCGA-CA-6718-01.png | |
 | Sample: TCGA-CA-6718-01 |
| Cancer type: COAD | |
| ESID: exon_skip_30235 | |
| Skipped exon start: 150599874 | |
| Skipped exon end: 150600068 | |
| Mutation start: 150600053 | |
| Mutation end: 150600053 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E25X | |
| Sample: TCGA-CA-6718-01 |
| Cancer type: COAD | |
| ESID: exon_skip_30232 | |
| Skipped exon start: 150599788 | |
| Skipped exon end: 150600068 | |
| Mutation start: 150600053 | |
| Mutation end: 150600053 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E25X | |
| Sample: TCGA-CA-6718-01 |
| Cancer type: COAD | |
| ESID: exon_skip_30236 | |
| Skipped exon start: 150599943 | |
| Skipped exon end: 150600068 | |
| Mutation start: 150600053 | |
| Mutation end: 150600053 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E25X | |
| exon_skip_141986_COAD_TCGA-CA-6718-01.png | |
| exon_skip_149207_COAD_TCGA-CA-6718-01.png | |
| exon_skip_286384_COAD_TCGA-CA-6718-01.png | |
| exon_skip_30232_COAD_TCGA-CA-6718-01.png | |
| exon_skip_30235_COAD_TCGA-CA-6718-01.png | |
| exon_skip_317435_COAD_TCGA-CA-6718-01.png | |
| exon_skip_317461_COAD_TCGA-CA-6718-01.png | |
| exon_skip_387073_COAD_TCGA-CA-6718-01.png | |
| exon_skip_44936_COAD_TCGA-CA-6718-01.png | |
| exon_skip_501551_COAD_TCGA-CA-6718-01.png | |
| exon_skip_86037_COAD_TCGA-CA-6718-01.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 |
| SNU1040_LARGE_INTESTINE | 150598118 | 150598284 | 150598121 | 150598121 | Missense_Mutation | G | A | p.A116V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150598118 | 150598284 | 150598209 | 150598209 | Missense_Mutation | G | C | p.P87A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 150598118 | 150598284 | 150598209 | 150598209 | Missense_Mutation | G | C | p.P87A |
| GAMG_CENTRAL_NERVOUS_SYSTEM | 150598118 | 150598284 | 150598265 | 150598265 | Missense_Mutation | C | G | p.G68A |
| MRKNU1_BREAST | 150599874 | 150600068 | 150600059 | 150600059 | Missense_Mutation | C | T | p.E23K |
| MRKNU1_BREAST | 150599788 | 150600068 | 150600059 | 150600059 | Missense_Mutation | C | T | p.E23K |
| MRKNU1_BREAST | 150599943 | 150600068 | 150600059 | 150600059 | Missense_Mutation | C | T | p.E23K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ENSA |
| 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 ENSA |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ENSA |
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RelatedDrugs for ENSA |
| 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 ENSA |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ENSA | C0151744 | Myocardial Ischemia | 1 | CTD_human |
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