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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 SAE1 |
 Gene summary |
| Gene information | Gene symbol | SAE1 | Gene ID | 10055 |
| Gene name | SUMO1 activating enzyme subunit 1 | |
| Synonyms | AOS1|HSPC140|SUA1|UBLE1A | |
| Cytomap | 19q13.32 | |
| Type of gene | protein-coding | |
| Description | SUMO-activating enzyme subunit 1SUMO-1 activating enzyme E1 N subunitSUMO-1 activating enzyme subunit 1activator of SUMO1sentrin/SUMO-activating protein AOS1ubiquitin-like 1-activating enzyme E1Aubiquitin-like protein SUMO-1 activating enzyme | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UBE0 | |
| Context | PubMed: SAE1 [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 |
| SAE1 | GO:0016925 | protein sumoylation | 15660128|20164921 |
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Exon skipping events across known transcript of Ensembl for SAE1 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 SAE1 |
| 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 SAE1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_308617 | 19 | 47634086:47634115:47645767:47645868:47646750:47646862 | 47645767:47645868 | ENSG00000142230.7 | ENST00000600706.1 |
| exon_skip_308618 | 19 | 47634091:47634115:47646750:47646862:47653458:47653632 | 47646750:47646862 | ENSG00000142230.7 | ENST00000597808.1,ENST00000540850.1 |
| exon_skip_308622 | 19 | 47634232:47634285:47646750:47646862:47653458:47653632 | 47646750:47646862 | ENSG00000142230.7 | ENST00000270225.7,ENST00000414294.2,ENST00000413379.3,ENST00000392776.3,ENST00000598840.1 |
| exon_skip_308625 | 19 | 47634145:47634369:47646750:47646862:47653458:47653632 | 47646750:47646862 | ENSG00000142230.7 | ENST00000596995.1 |
| exon_skip_308627 | 19 | 47646750:47646862:47653458:47653632:47656154:47656257 | 47653458:47653632 | ENSG00000142230.7 | ENST00000270225.7,ENST00000414294.2,ENST00000413379.3,ENST00000594144.1,ENST00000596995.1,ENST00000392776.3,ENST00000597808.1,ENST00000600706.1,ENST00000594526.1 |
| exon_skip_308630 | 19 | 47653458:47653632:47656154:47656297:47658370:47658434 | 47656154:47656297 | ENSG00000142230.7 | ENST00000270225.7,ENST00000414294.2,ENST00000413379.3,ENST00000594144.1,ENST00000596995.1,ENST00000392776.3,ENST00000597808.1,ENST00000600706.1 |
| exon_skip_308631 | 19 | 47653458:47653632:47658370:47658470:47673074:47673110 | 47658370:47658470 | ENSG00000142230.7 | ENST00000540850.1 |
| exon_skip_308636 | 19 | 47673077:47673180:47683402:47683560:47700489:47700634 | 47683402:47683560 | ENSG00000142230.7 | ENST00000414294.2 |
| exon_skip_308641 | 19 | 47673077:47673180:47700489:47700634:47706927:47706997 | 47700489:47700634 | ENSG00000142230.7 | ENST00000270225.7,ENST00000596995.1,ENST00000540850.1,ENST00000598840.1 |
| exon_skip_308646 | 19 | 47673074:47673180:47706927:47706997:47712415:47712520 | 47706927:47706997 | ENSG00000142230.7 | ENST00000392776.3 |
| exon_skip_308647 | 19 | 47683402:47683560:47700489:47700634:47706927:47706997 | 47700489:47700634 | ENSG00000142230.7 | ENST00000414294.2 |
| exon_skip_308656 | 19 | 47700500:47700634:47706927:47706997:47712415:47712625 | 47706927:47706997 | ENSG00000142230.7 | ENST00000270225.7,ENST00000414294.2,ENST00000596995.1,ENST00000540850.1,ENST00000598840.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SAE1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_308617 | 19 | 47634086:47634115:47645767:47645868:47646750:47646862 | 47645767:47645868 | ENSG00000142230.7 | ENST00000600706.1 |
| exon_skip_308618 | 19 | 47634091:47634115:47646750:47646862:47653458:47653632 | 47646750:47646862 | ENSG00000142230.7 | ENST00000597808.1,ENST00000540850.1 |
| exon_skip_308622 | 19 | 47634232:47634285:47646750:47646862:47653458:47653632 | 47646750:47646862 | ENSG00000142230.7 | ENST00000413379.3,ENST00000598840.1,ENST00000414294.2,ENST00000270225.7,ENST00000392776.3 |
| exon_skip_308625 | 19 | 47634145:47634369:47646750:47646862:47653458:47653632 | 47646750:47646862 | ENSG00000142230.7 | ENST00000596995.1 |
| exon_skip_308627 | 19 | 47646750:47646862:47653458:47653632:47656154:47656257 | 47653458:47653632 | ENSG00000142230.7 | ENST00000594144.1,ENST00000594526.1,ENST00000597808.1,ENST00000413379.3,ENST00000600706.1,ENST00000414294.2,ENST00000270225.7,ENST00000596995.1,ENST00000392776.3 |
| exon_skip_308630 | 19 | 47653458:47653632:47656154:47656297:47658370:47658434 | 47656154:47656297 | ENSG00000142230.7 | ENST00000594144.1,ENST00000597808.1,ENST00000413379.3,ENST00000600706.1,ENST00000414294.2,ENST00000270225.7,ENST00000596995.1,ENST00000392776.3 |
| exon_skip_308631 | 19 | 47653458:47653632:47658370:47658470:47673074:47673110 | 47658370:47658470 | ENSG00000142230.7 | ENST00000540850.1 |
| exon_skip_308636 | 19 | 47673077:47673180:47683402:47683560:47700489:47700634 | 47683402:47683560 | ENSG00000142230.7 | ENST00000414294.2 |
| exon_skip_308641 | 19 | 47673077:47673180:47700489:47700634:47706927:47706997 | 47700489:47700634 | ENSG00000142230.7 | ENST00000540850.1,ENST00000598840.1,ENST00000270225.7,ENST00000596995.1 |
| exon_skip_308646 | 19 | 47673074:47673180:47706927:47706997:47712415:47712520 | 47706927:47706997 | ENSG00000142230.7 | ENST00000392776.3 |
| exon_skip_308647 | 19 | 47683402:47683560:47700489:47700634:47706927:47706997 | 47700489:47700634 | ENSG00000142230.7 | ENST00000414294.2 |
| exon_skip_308656 | 19 | 47700500:47700634:47706927:47706997:47712415:47712625 | 47706927:47706997 | ENSG00000142230.7 | ENST00000540850.1,ENST00000598840.1,ENST00000414294.2,ENST00000270225.7,ENST00000596995.1 |
| 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 SAE1 |
| 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 |
| ENST00000270225 | 47646750 | 47646862 | Frame-shift |
| ENST00000270225 | 47656154 | 47656297 | Frame-shift |
| ENST00000270225 | 47700489 | 47700634 | Frame-shift |
| ENST00000270225 | 47706927 | 47706997 | Frame-shift |
| ENST00000270225 | 47653458 | 47653632 | 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 |
| ENST00000270225 | 47646750 | 47646862 | Frame-shift |
| ENST00000270225 | 47656154 | 47656297 | Frame-shift |
| ENST00000270225 | 47700489 | 47700634 | Frame-shift |
| ENST00000270225 | 47706927 | 47706997 | Frame-shift |
| ENST00000270225 | 47653458 | 47653632 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SAE1 |
| 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 |
| ENST00000270225 | 2066 | 346 | 47653458 | 47653632 | 279 | 452 | 70 | 128 |
| 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 |
| ENST00000270225 | 2066 | 346 | 47653458 | 47653632 | 279 | 452 | 70 | 128 |
| 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 |
| Q9UBE0 | 70 | 128 | 73 | 75 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KYC |
| Q9UBE0 | 70 | 128 | 106 | 111 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8Q |
| Q9UBE0 | 70 | 128 | 127 | 133 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8Q |
| Q9UBE0 | 70 | 128 | 1 | 346 | Chain | ID=PRO_0000194966;Note=SUMO-activating enzyme subunit 1 |
| Q9UBE0 | 70 | 128 | 2 | 346 | Chain | ID=PRO_0000423290;Note=SUMO-activating enzyme subunit 1%2C N-terminally processed |
| Q9UBE0 | 70 | 128 | 76 | 78 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8Q |
| Q9UBE0 | 70 | 128 | 91 | 101 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8Q |
| Q9UBE0 | 70 | 128 | 115 | 117 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8Q |
| Q9UBE0 | 70 | 128 | 120 | 123 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8Q |
| Q9UBE0 | 70 | 128 | 115 | 115 | Sequence conflict | Note=I->M;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 |
| Q9UBE0 | 70 | 128 | 73 | 75 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KYC |
| Q9UBE0 | 70 | 128 | 106 | 111 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8Q |
| Q9UBE0 | 70 | 128 | 127 | 133 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8Q |
| Q9UBE0 | 70 | 128 | 1 | 346 | Chain | ID=PRO_0000194966;Note=SUMO-activating enzyme subunit 1 |
| Q9UBE0 | 70 | 128 | 2 | 346 | Chain | ID=PRO_0000423290;Note=SUMO-activating enzyme subunit 1%2C N-terminally processed |
| Q9UBE0 | 70 | 128 | 76 | 78 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8Q |
| Q9UBE0 | 70 | 128 | 91 | 101 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8Q |
| Q9UBE0 | 70 | 128 | 115 | 117 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8Q |
| Q9UBE0 | 70 | 128 | 120 | 123 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8Q |
| Q9UBE0 | 70 | 128 | 115 | 115 | Sequence conflict | Note=I->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for SAE1 |
| - 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-A39Y-01 | exon_skip_308630 | 47656155 | 47656297 | 47656243 | 47656243 | Frame_Shift_Del | T | - | p.V158fs |
| BRCA | TCGA-EW-A1IZ-01 | exon_skip_308627 | 47653459 | 47653632 | 47653513 | 47653513 | Nonsense_Mutation | C | T | p.R89* |
| SKCM | TCGA-EE-A3AC-06 | exon_skip_308627 | 47653459 | 47653632 | 47653513 | 47653513 | Nonsense_Mutation | C | T | p.R89* |
| SKCM | TCGA-EE-A3AC-06 | exon_skip_308627 | 47653459 | 47653632 | 47653513 | 47653513 | Nonsense_Mutation | C | T | p.R89X |
| ESCA | TCGA-L5-A4OU-01 | exon_skip_308627 | 47653459 | 47653632 | 47653535 | 47653535 | Nonsense_Mutation | T | A | p.L96* |
| ESCA | TCGA-L5-A4OU-01 | exon_skip_308627 | 47653459 | 47653632 | 47653535 | 47653535 | Nonsense_Mutation | T | A | p.L96X |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_308647 exon_skip_308641 | 47700490 | 47700634 | 47700573 | 47700573 | Nonsense_Mutation | C | T | p.R273* |
| - 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 |
| LS180_LARGE_INTESTINE | 47656155 | 47656297 | 47656243 | 47656243 | Frame_Shift_Del | T | - | p.V158fs |
| NCIH2110_LUNG | 47700490 | 47700634 | 47700630 | 47700630 | Frame_Shift_Del | G | - | p.V292fs |
| COLO829_SKIN | 47646751 | 47646862 | 47646781 | 47646782 | Frame_Shift_Ins | - | T | p.L44fs |
| PFSK1_CENTRAL_NERVOUS_SYSTEM | 47646751 | 47646862 | 47646781 | 47646782 | Frame_Shift_Ins | - | T | p.L44fs |
| EFO27_OVARY | 47646751 | 47646862 | 47646764 | 47646764 | Missense_Mutation | C | T | p.R38W |
| SKNSH_AUTONOMIC_GANGLIA | 47646751 | 47646862 | 47646785 | 47646785 | Missense_Mutation | A | G | p.K45E |
| SKOV3_OVARY | 47646751 | 47646862 | 47646815 | 47646815 | Missense_Mutation | C | A | p.L55I |
| CL14_LARGE_INTESTINE | 47653459 | 47653632 | 47653474 | 47653474 | Missense_Mutation | C | T | p.P76S |
| BT483_BREAST | 47653459 | 47653632 | 47653495 | 47653495 | Missense_Mutation | C | T | p.R83C |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47653459 | 47653632 | 47653495 | 47653495 | Missense_Mutation | C | T | p.R83C |
| IPC298_SKIN | 47653459 | 47653632 | 47653499 | 47653499 | Missense_Mutation | C | T | p.T84I |
| SNU308_BILIARY_TRACT | 47653459 | 47653632 | 47653532 | 47653532 | Missense_Mutation | C | G | p.S95C |
| C10_LARGE_INTESTINE | 47653459 | 47653632 | 47653541 | 47653541 | Missense_Mutation | G | A | p.R98Q |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 47653459 | 47653632 | 47653622 | 47653622 | Missense_Mutation | A | G | p.Q125R |
| HT3_CERVIX | 47653459 | 47653632 | 47653627 | 47653627 | Missense_Mutation | G | A | p.D127N |
| LS123_LARGE_INTESTINE | 47656155 | 47656297 | 47656201 | 47656201 | Missense_Mutation | A | G | p.Q144R |
| MSTO211H_PLEURA | 47658371 | 47658470 | 47658454 | 47658454 | Missense_Mutation | C | A | p.T204K |
| C3A_LIVER | 47700490 | 47700634 | 47700492 | 47700492 | Missense_Mutation | C | T | p.L246F |
| LNCAPCLONEFGC_PROSTATE | 47700490 | 47700634 | 47700526 | 47700526 | Missense_Mutation | C | A | p.P257H |
| 639V_URINARY_TRACT | 47700490 | 47700634 | 47700564 | 47700564 | Missense_Mutation | C | T | p.L270F |
| HS939T_SKIN | 47700490 | 47700634 | 47700597 | 47700598 | Missense_Mutation | GG | AA | p.G281N |
| HS939T_SKIN | 47700490 | 47700634 | 47700597 | 47700597 | Missense_Mutation | G | A | p.G281S |
| HS939T_SKIN | 47700490 | 47700634 | 47700598 | 47700598 | Missense_Mutation | G | A | p.G281D |
| NCIH2347_LUNG | 47646751 | 47646862 | 47646827 | 47646827 | Nonsense_Mutation | G | T | p.G59* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SAE1 |
| 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 SAE1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SAE1 |
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RelatedDrugs for SAE1 |
| 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 SAE1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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