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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 LYST |
 Gene summary |
| Gene information | Gene symbol | LYST | Gene ID | 1130 |
| Gene name | lysosomal trafficking regulator | |
| Synonyms | CHS|CHS1 | |
| Cytomap | 1q42.3 | |
| Type of gene | protein-coding | |
| Description | lysosomal-trafficking regulatorChediak-Higashi syndrome 1beige homolog | |
| Modification date | 20180519 | |
| UniProtAcc | Q99698 | |
| Context | PubMed: LYST [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 LYST 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 LYST |
| 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 LYST |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_38314 | 1 | 235840779:235840919:235850248:235850347:235856649:235856786 | 235850248:235850347 | ENSG00000143669.9 | ENST00000389794.3,ENST00000473037.1,ENST00000389793.2 |
| exon_skip_38315 | 1 | 235850248:235850347:235856649:235856786:235860382:235860572 | 235856649:235856786 | ENSG00000143669.9 | ENST00000389794.3,ENST00000473037.1,ENST00000389793.2 |
| exon_skip_38316 | 1 | 235856649:235856786:235860382:235860572:235866046:235866277 | 235860382:235860572 | ENSG00000143669.9 | ENST00000389794.3,ENST00000473037.1,ENST00000389793.2 |
| exon_skip_38317 | 1 | 235860382:235860572:235866046:235866277:235872390:235872608 | 235866046:235866277 | ENSG00000143669.9 | ENST00000389794.3,ENST00000473037.1,ENST00000389793.2 |
| exon_skip_38320 | 1 | 235880011:235880078:235883960:235884205:235887327:235887480 | 235883960:235884205 | ENSG00000143669.9 | ENST00000475277.1,ENST00000389794.3,ENST00000473037.1,ENST00000389793.2 |
| exon_skip_38321 | 1 | 235887327:235887480:235891375:235891431:235892895:235892957 | 235891375:235891431 | ENSG00000143669.9 | ENST00000389794.3,ENST00000473037.1,ENST00000389793.2 |
| exon_skip_38323 | 1 | 235894331:235894477:235896802:235896991:235897129:235897206 | 235896802:235896991 | ENSG00000143669.9 | ENST00000389794.3,ENST00000473037.1,ENST00000389793.2 |
| exon_skip_38325 | 1 | 235904721:235904928:235907278:235907457:235909635:235909827 | 235907278:235907457 | ENSG00000143669.9 | ENST00000389794.3,ENST00000389793.2 |
| exon_skip_38329 | 1 | 235909767:235909827:235910469:235910631:235914509:235914662 | 235910469:235910631 | ENSG00000143669.9 | ENST00000487530.1 |
| exon_skip_38332 | 1 | 235909767:235909827:235914509:235914662:235915304:235915471 | 235914509:235914662 | ENSG00000143669.9 | ENST00000389794.3,ENST00000389793.2 |
| exon_skip_38336 | 1 | 235918777:235918947:235920580:235920758:235922271:235922899 | 235920580:235920758 | ENSG00000143669.9 | ENST00000389794.3,ENST00000389793.2 |
| exon_skip_38337 | 1 | 235922558:235922899:235926019:235926151:235929378:235929577 | 235926019:235926151 | ENSG00000143669.9 | ENST00000389794.3,ENST00000536965.1,ENST00000389793.2 |
| exon_skip_38343 | 1 | 235929538:235929577:235933459:235933597:235937141:235937291 | 235933459:235933597 | ENSG00000143669.9 | ENST00000489585.1,ENST00000389794.3,ENST00000536965.1,ENST00000389793.2 |
| exon_skip_38346 | 1 | 235938212:235938386:235940362:235940608:235944164:235944355 | 235940362:235940608 | ENSG00000143669.9 | ENST00000489585.1,ENST00000389794.3,ENST00000536965.1,ENST00000389793.2 |
| exon_skip_38347 | 1 | 235940362:235940608:235944164:235944355:235945226:235945387 | 235944164:235944355 | ENSG00000143669.9 | ENST00000489585.1,ENST00000389794.3,ENST00000536965.1,ENST00000389793.2 |
| exon_skip_38350 | 1 | 235952000:235952145:235954998:235955425:235956802:235956912 | 235954998:235955425 | ENSG00000143669.9 | ENST00000489585.1,ENST00000389794.3,ENST00000389793.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LYST |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_38314 | 1 | 235840779:235840919:235850248:235850347:235856649:235856786 | 235850248:235850347 | ENSG00000143669.9 | ENST00000389794.3,ENST00000473037.1,ENST00000389793.2 |
| exon_skip_38315 | 1 | 235850248:235850347:235856649:235856786:235860382:235860572 | 235856649:235856786 | ENSG00000143669.9 | ENST00000389794.3,ENST00000473037.1,ENST00000389793.2 |
| exon_skip_38316 | 1 | 235856649:235856786:235860382:235860572:235866046:235866277 | 235860382:235860572 | ENSG00000143669.9 | ENST00000389794.3,ENST00000473037.1,ENST00000389793.2 |
| exon_skip_38317 | 1 | 235860382:235860572:235866046:235866277:235872390:235872608 | 235866046:235866277 | ENSG00000143669.9 | ENST00000389794.3,ENST00000473037.1,ENST00000389793.2 |
| exon_skip_38320 | 1 | 235880011:235880078:235883960:235884205:235887327:235887480 | 235883960:235884205 | ENSG00000143669.9 | ENST00000389794.3,ENST00000473037.1,ENST00000389793.2,ENST00000475277.1 |
| exon_skip_38321 | 1 | 235887327:235887480:235891375:235891431:235892895:235892957 | 235891375:235891431 | ENSG00000143669.9 | ENST00000389794.3,ENST00000473037.1,ENST00000389793.2 |
| exon_skip_38323 | 1 | 235894331:235894477:235896802:235896991:235897129:235897206 | 235896802:235896991 | ENSG00000143669.9 | ENST00000389794.3,ENST00000473037.1,ENST00000389793.2 |
| exon_skip_38325 | 1 | 235904721:235904928:235907278:235907457:235909635:235909827 | 235907278:235907457 | ENSG00000143669.9 | ENST00000389794.3,ENST00000389793.2 |
| exon_skip_38329 | 1 | 235909767:235909827:235910469:235910631:235914509:235914662 | 235910469:235910631 | ENSG00000143669.9 | ENST00000487530.1 |
| exon_skip_38332 | 1 | 235909767:235909827:235914509:235914662:235915304:235915471 | 235914509:235914662 | ENSG00000143669.9 | ENST00000389794.3,ENST00000389793.2 |
| exon_skip_38336 | 1 | 235918777:235918947:235920580:235920758:235922271:235922899 | 235920580:235920758 | ENSG00000143669.9 | ENST00000389794.3,ENST00000389793.2 |
| exon_skip_38337 | 1 | 235922558:235922899:235926019:235926151:235929378:235929577 | 235926019:235926151 | ENSG00000143669.9 | ENST00000389794.3,ENST00000389793.2,ENST00000536965.1 |
| exon_skip_38343 | 1 | 235929538:235929577:235933459:235933597:235937141:235937291 | 235933459:235933597 | ENSG00000143669.9 | ENST00000389794.3,ENST00000389793.2,ENST00000489585.1,ENST00000536965.1 |
| exon_skip_38346 | 1 | 235938212:235938386:235940362:235940608:235944164:235944355 | 235940362:235940608 | ENSG00000143669.9 | ENST00000389794.3,ENST00000389793.2,ENST00000489585.1,ENST00000536965.1 |
| exon_skip_38347 | 1 | 235940362:235940608:235944164:235944355:235945226:235945387 | 235944164:235944355 | ENSG00000143669.9 | ENST00000389794.3,ENST00000389793.2,ENST00000489585.1,ENST00000536965.1 |
| exon_skip_38350 | 1 | 235952000:235952145:235954998:235955425:235956802:235956912 | 235954998:235955425 | ENSG00000143669.9 | ENST00000389794.3,ENST00000389793.2,ENST00000489585.1 |
| 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 LYST |
| 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 |
| ENST00000389793 | 235856649 | 235856786 | Frame-shift |
| ENST00000389793 | 235860382 | 235860572 | Frame-shift |
| ENST00000389793 | 235883960 | 235884205 | Frame-shift |
| ENST00000389793 | 235891375 | 235891431 | Frame-shift |
| ENST00000389793 | 235907278 | 235907457 | Frame-shift |
| ENST00000389793 | 235920580 | 235920758 | Frame-shift |
| ENST00000389793 | 235944164 | 235944355 | Frame-shift |
| ENST00000389793 | 235954998 | 235955425 | Frame-shift |
| ENST00000389793 | 235850248 | 235850347 | In-frame |
| ENST00000389793 | 235866046 | 235866277 | In-frame |
| ENST00000389793 | 235896802 | 235896991 | In-frame |
| ENST00000389793 | 235914509 | 235914662 | In-frame |
| ENST00000389793 | 235926019 | 235926151 | In-frame |
| ENST00000389793 | 235933459 | 235933597 | In-frame |
| ENST00000389793 | 235940362 | 235940608 | 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 |
| ENST00000389793 | 235856649 | 235856786 | Frame-shift |
| ENST00000389793 | 235860382 | 235860572 | Frame-shift |
| ENST00000389793 | 235883960 | 235884205 | Frame-shift |
| ENST00000389793 | 235891375 | 235891431 | Frame-shift |
| ENST00000389793 | 235907278 | 235907457 | Frame-shift |
| ENST00000389793 | 235920580 | 235920758 | Frame-shift |
| ENST00000389793 | 235944164 | 235944355 | Frame-shift |
| ENST00000389793 | 235954998 | 235955425 | Frame-shift |
| ENST00000389793 | 235850248 | 235850347 | In-frame |
| ENST00000389793 | 235866046 | 235866277 | In-frame |
| ENST00000389793 | 235896802 | 235896991 | In-frame |
| ENST00000389793 | 235914509 | 235914662 | In-frame |
| ENST00000389793 | 235926019 | 235926151 | In-frame |
| ENST00000389793 | 235933459 | 235933597 | In-frame |
| ENST00000389793 | 235940362 | 235940608 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LYST |
| 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 |
| ENST00000389793 | 13488 | 3801 | 235940362 | 235940608 | 5390 | 5635 | 1738 | 1820 |
| ENST00000389793 | 13488 | 3801 | 235933459 | 235933597 | 5960 | 6097 | 1928 | 1974 |
| ENST00000389793 | 13488 | 3801 | 235926019 | 235926151 | 6297 | 6428 | 2040 | 2084 |
| ENST00000389793 | 13488 | 3801 | 235914509 | 235914662 | 7803 | 7955 | 2542 | 2593 |
| ENST00000389793 | 13488 | 3801 | 235896802 | 235896991 | 8788 | 8976 | 2871 | 2933 |
| ENST00000389793 | 13488 | 3801 | 235866046 | 235866277 | 10319 | 10549 | 3381 | 3458 |
| ENST00000389793 | 13488 | 3801 | 235850248 | 235850347 | 10877 | 10975 | 3567 | 3600 |
| 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 |
| ENST00000389793 | 13488 | 3801 | 235940362 | 235940608 | 5390 | 5635 | 1738 | 1820 |
| ENST00000389793 | 13488 | 3801 | 235933459 | 235933597 | 5960 | 6097 | 1928 | 1974 |
| ENST00000389793 | 13488 | 3801 | 235926019 | 235926151 | 6297 | 6428 | 2040 | 2084 |
| ENST00000389793 | 13488 | 3801 | 235914509 | 235914662 | 7803 | 7955 | 2542 | 2593 |
| ENST00000389793 | 13488 | 3801 | 235896802 | 235896991 | 8788 | 8976 | 2871 | 2933 |
| ENST00000389793 | 13488 | 3801 | 235866046 | 235866277 | 10319 | 10549 | 3381 | 3458 |
| ENST00000389793 | 13488 | 3801 | 235850248 | 235850347 | 10877 | 10975 | 3567 | 3600 |
| 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 |
| Q99698 | 1738 | 1820 | 1532 | 3801 | Alternative sequence | ID=VSP_006780;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9215680;Dbxref=PMID:9215680 |
| Q99698 | 1738 | 1820 | 1 | 3801 | Chain | ID=PRO_0000051071;Note=Lysosomal-trafficking regulator |
| Q99698 | 1928 | 1974 | 1532 | 3801 | Alternative sequence | ID=VSP_006780;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9215680;Dbxref=PMID:9215680 |
| Q99698 | 1928 | 1974 | 1 | 3801 | Chain | ID=PRO_0000051071;Note=Lysosomal-trafficking regulator |
| Q99698 | 1928 | 1974 | 1949 | 1949 | Natural variant | ID=VAR_053406;Note=Q->H;Dbxref=dbSNP:rs6665568 |
| Q99698 | 1928 | 1974 | 1929 | 1930 | Sequence conflict | Note=QG->AC;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99698 | 2040 | 2084 | 1532 | 3801 | Alternative sequence | ID=VSP_006780;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9215680;Dbxref=PMID:9215680 |
| Q99698 | 2040 | 2084 | 2002 | 3801 | Alternative sequence | ID=VSP_006782;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8717042;Dbxref=PMID:8717042 |
| Q99698 | 2040 | 2084 | 1 | 3801 | Chain | ID=PRO_0000051071;Note=Lysosomal-trafficking regulator |
| Q99698 | 2542 | 2593 | 1532 | 3801 | Alternative sequence | ID=VSP_006780;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9215680;Dbxref=PMID:9215680 |
| Q99698 | 2542 | 2593 | 2002 | 3801 | Alternative sequence | ID=VSP_006782;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8717042;Dbxref=PMID:8717042 |
| Q99698 | 2542 | 2593 | 1 | 3801 | Chain | ID=PRO_0000051071;Note=Lysosomal-trafficking regulator |
| Q99698 | 2871 | 2933 | 1532 | 3801 | Alternative sequence | ID=VSP_006780;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9215680;Dbxref=PMID:9215680 |
| Q99698 | 2871 | 2933 | 2002 | 3801 | Alternative sequence | ID=VSP_006782;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8717042;Dbxref=PMID:8717042 |
| Q99698 | 2871 | 2933 | 1 | 3801 | Chain | ID=PRO_0000051071;Note=Lysosomal-trafficking regulator |
| Q99698 | 3381 | 3458 | 1532 | 3801 | Alternative sequence | ID=VSP_006780;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9215680;Dbxref=PMID:9215680 |
| Q99698 | 3381 | 3458 | 2002 | 3801 | Alternative sequence | ID=VSP_006782;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8717042;Dbxref=PMID:8717042 |
| Q99698 | 3381 | 3458 | 1 | 3801 | Chain | ID=PRO_0000051071;Note=Lysosomal-trafficking regulator |
| Q99698 | 3381 | 3458 | 3120 | 3422 | Domain | Note=BEACH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00026 |
| Q99698 | 3567 | 3600 | 1532 | 3801 | Alternative sequence | ID=VSP_006780;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9215680;Dbxref=PMID:9215680 |
| Q99698 | 3567 | 3600 | 2002 | 3801 | Alternative sequence | ID=VSP_006782;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8717042;Dbxref=PMID:8717042 |
| Q99698 | 3567 | 3600 | 1 | 3801 | Chain | ID=PRO_0000051071;Note=Lysosomal-trafficking regulator |
| Q99698 | 3567 | 3600 | 3563 | 3602 | Repeat | Note=WD 3 |
| 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 |
| Q99698 | 1738 | 1820 | 1532 | 3801 | Alternative sequence | ID=VSP_006780;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9215680;Dbxref=PMID:9215680 |
| Q99698 | 1738 | 1820 | 1 | 3801 | Chain | ID=PRO_0000051071;Note=Lysosomal-trafficking regulator |
| Q99698 | 1928 | 1974 | 1532 | 3801 | Alternative sequence | ID=VSP_006780;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9215680;Dbxref=PMID:9215680 |
| Q99698 | 1928 | 1974 | 1 | 3801 | Chain | ID=PRO_0000051071;Note=Lysosomal-trafficking regulator |
| Q99698 | 1928 | 1974 | 1949 | 1949 | Natural variant | ID=VAR_053406;Note=Q->H;Dbxref=dbSNP:rs6665568 |
| Q99698 | 1928 | 1974 | 1929 | 1930 | Sequence conflict | Note=QG->AC;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99698 | 2040 | 2084 | 1532 | 3801 | Alternative sequence | ID=VSP_006780;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9215680;Dbxref=PMID:9215680 |
| Q99698 | 2040 | 2084 | 2002 | 3801 | Alternative sequence | ID=VSP_006782;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8717042;Dbxref=PMID:8717042 |
| Q99698 | 2040 | 2084 | 1 | 3801 | Chain | ID=PRO_0000051071;Note=Lysosomal-trafficking regulator |
| Q99698 | 2542 | 2593 | 1532 | 3801 | Alternative sequence | ID=VSP_006780;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9215680;Dbxref=PMID:9215680 |
| Q99698 | 2542 | 2593 | 2002 | 3801 | Alternative sequence | ID=VSP_006782;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8717042;Dbxref=PMID:8717042 |
| Q99698 | 2542 | 2593 | 1 | 3801 | Chain | ID=PRO_0000051071;Note=Lysosomal-trafficking regulator |
| Q99698 | 2871 | 2933 | 1532 | 3801 | Alternative sequence | ID=VSP_006780;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9215680;Dbxref=PMID:9215680 |
| Q99698 | 2871 | 2933 | 2002 | 3801 | Alternative sequence | ID=VSP_006782;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8717042;Dbxref=PMID:8717042 |
| Q99698 | 2871 | 2933 | 1 | 3801 | Chain | ID=PRO_0000051071;Note=Lysosomal-trafficking regulator |
| Q99698 | 3381 | 3458 | 1532 | 3801 | Alternative sequence | ID=VSP_006780;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9215680;Dbxref=PMID:9215680 |
| Q99698 | 3381 | 3458 | 2002 | 3801 | Alternative sequence | ID=VSP_006782;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8717042;Dbxref=PMID:8717042 |
| Q99698 | 3381 | 3458 | 1 | 3801 | Chain | ID=PRO_0000051071;Note=Lysosomal-trafficking regulator |
| Q99698 | 3381 | 3458 | 3120 | 3422 | Domain | Note=BEACH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00026 |
| Q99698 | 3567 | 3600 | 1532 | 3801 | Alternative sequence | ID=VSP_006780;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9215680;Dbxref=PMID:9215680 |
| Q99698 | 3567 | 3600 | 2002 | 3801 | Alternative sequence | ID=VSP_006782;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8717042;Dbxref=PMID:8717042 |
| Q99698 | 3567 | 3600 | 1 | 3801 | Chain | ID=PRO_0000051071;Note=Lysosomal-trafficking regulator |
| Q99698 | 3567 | 3600 | 3563 | 3602 | Repeat | Note=WD 3 |
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SNVs in the skipped exons for LYST |
| - 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_38316 | 235860383 | 235860572 | 235860519 | 235860519 | Frame_Shift_Del | G | - | p.P3476fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_38317 | 235866047 | 235866277 | 235866205 | 235866205 | Frame_Shift_Del | T | - | p.T3406fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_38321 | 235891376 | 235891431 | 235891381 | 235891381 | Frame_Shift_Del | T | - | p.S3055fs |
| ESCA | TCGA-L5-A8NF-01 | exon_skip_38323 | 235896803 | 235896991 | 235896893 | 235896893 | Frame_Shift_Del | T | - | p.K2904fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_38323 | 235896803 | 235896991 | 235896893 | 235896893 | Frame_Shift_Del | T | - | p.K2904fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_38323 | 235896803 | 235896991 | 235896893 | 235896893 | Frame_Shift_Del | T | - | p.K2904fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_38332 | 235914510 | 235914662 | 235914604 | 235914604 | Frame_Shift_Del | G | - | p.T2563fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_38343 | 235933460 | 235933597 | 235933585 | 235933585 | Frame_Shift_Del | C | - | p.E1933fs |
| KIRC | TCGA-BP-4976-01 | exon_skip_38347 | 235944165 | 235944355 | 235944201 | 235944201 | Frame_Shift_Del | A | - | p.F1726fs |
| KIRC | TCGA-BP-4976-01 | exon_skip_38347 | 235944165 | 235944355 | 235944201 | 235944201 | Frame_Shift_Del | A | - | p.M1727X |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_38350 | 235954999 | 235955425 | 235955105 | 235955105 | Frame_Shift_Del | A | - | p.F1479fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_38350 | 235954999 | 235955425 | 235955156 | 235955156 | Frame_Shift_Del | C | - | p.G1462fs |
| LIHC | TCGA-4R-AA8I-01 | exon_skip_38316 | 235860383 | 235860572 | 235860518 | 235860519 | Frame_Shift_Ins | - | G | p.S3477fs |
| UCS | TCGA-NF-A4X2-01 | exon_skip_38350 | 235954999 | 235955425 | 235955054 | 235955055 | Frame_Shift_Ins | - | TTTT | p.K1496fs |
| UCS | TCGA-NF-A4X2-01 | exon_skip_38350 | 235954999 | 235955425 | 235955054 | 235955055 | Frame_Shift_Ins | - | TTTT | p.N1496fs |
| GBM | TCGA-12-3649-01 | exon_skip_38317 | 235866047 | 235866277 | 235866229 | 235866229 | Nonsense_Mutation | G | A | p.R3398* |
| STAD | TCGA-HU-A4H5-01 | exon_skip_38317 | 235866047 | 235866277 | 235866229 | 235866229 | Nonsense_Mutation | G | A | p.R3398* |
| STAD | TCGA-HU-A4H5-01 | exon_skip_38317 | 235866047 | 235866277 | 235866229 | 235866229 | Nonsense_Mutation | G | A | p.R3398X |
| COAD | TCGA-AD-6888-01 | exon_skip_38320 | 235883961 | 235884205 | 235884120 | 235884120 | Nonsense_Mutation | A | C | p.L3134X |
| STAD | TCGA-CG-5721-01 | exon_skip_38323 | 235896803 | 235896991 | 235896835 | 235896835 | Nonsense_Mutation | C | T | p.W2923* |
| UCEC | TCGA-A5-A0GA-01 | exon_skip_38323 | 235896803 | 235896991 | 235896835 | 235896835 | Nonsense_Mutation | C | T | p.W2923* |
| READ | TCGA-F5-6814-01 | exon_skip_38325 | 235907279 | 235907457 | 235907320 | 235907320 | Nonsense_Mutation | C | A | p.E2704X |
| READ | TCGA-F5-6814-01 | exon_skip_38347 | 235944165 | 235944355 | 235944209 | 235944209 | Nonsense_Mutation | C | A | p.E1724X |
| PAAD | TCGA-IB-A7M4-01 | exon_skip_38347 | 235944165 | 235944355 | 235944227 | 235944227 | Nonsense_Mutation | G | A | p.R1718* |
| PRAD | TCGA-V1-A8WW-01 | exon_skip_38347 | 235944165 | 235944355 | 235944227 | 235944227 | Nonsense_Mutation | G | A | p.R1718* |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_38347 | 235944165 | 235944355 | 235944227 | 235944227 | Nonsense_Mutation | G | A | p.R1718* |
| STAD | TCGA-BR-8680-01 | exon_skip_38347 | 235944165 | 235944355 | 235944236 | 235944236 | Nonsense_Mutation | C | A | p.E1715* |
| STAD | TCGA-BR-8680-01 | exon_skip_38347 | 235944165 | 235944355 | 235944236 | 235944236 | Nonsense_Mutation | C | A | p.E1715X |
| UCEC | TCGA-AP-A056-01 | exon_skip_38347 | 235944165 | 235944355 | 235944236 | 235944236 | Nonsense_Mutation | C | A | p.E1715* |
| CESC | TCGA-C5-A1MH-01 | exon_skip_38347 | 235944165 | 235944355 | 235944340 | 235944340 | Nonsense_Mutation | G | C | p.S1680* |
| LUSC | TCGA-60-2698-01 | exon_skip_38347 | 235944165 | 235944355 | 235944340 | 235944340 | Nonsense_Mutation | G | C | p.S1680* |
| SKCM | TCGA-FS-A1Z3-06 | exon_skip_38350 | 235954999 | 235955425 | 235955367 | 235955367 | Nonsense_Mutation | G | T | p.S1392* |
| SKCM | TCGA-FS-A1Z3-06 | exon_skip_38350 | 235954999 | 235955425 | 235955367 | 235955367 | Nonsense_Mutation | G | T | p.S1392X |
| BLCA | TCGA-FD-A3B5-01 | exon_skip_38325 | 235907279 | 235907457 | 235907458 | 235907458 | Splice_Site | C | G | p.E2658_splice |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_38325 | 235907279 | 235907457 | 235907458 | 235907458 | Splice_Site | C | A | e28-1 |
| UCEC | TCGA-D1-A103-01 | exon_skip_38325 | 235907279 | 235907457 | 235907458 | 235907458 | Splice_Site | C | A | e28-1 |
| - 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 |
| EW7_BONE | 235954999 | 235955425 | 235955197 | 235955197 | Frame_Shift_Del | A | - | p.S1450fs |
| NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 235896803 | 235896991 | 235896892 | 235896893 | Frame_Shift_Ins | - | T | p.K2904fs |
| TGBC11TKB_STOMACH | 235920581 | 235920758 | 235920592 | 235920593 | Frame_Shift_Ins | - | T | p.G2350fs |
| HEC6_ENDOMETRIUM | 235856650 | 235856786 | 235856726 | 235856726 | Missense_Mutation | G | C | p.A3542G |
| JEG3_PLACENTA | 235860383 | 235860572 | 235860393 | 235860393 | Missense_Mutation | G | T | p.S3518R |
| K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 235860383 | 235860572 | 235860410 | 235860410 | Missense_Mutation | G | T | p.L3513I |
| COGAR359_SOFT_TISSUE | 235860383 | 235860572 | 235860422 | 235860422 | Missense_Mutation | G | A | p.R3509W |
| OC316_OVARY | 235860383 | 235860572 | 235860440 | 235860440 | Missense_Mutation | C | A | p.A3503S |
| TGBC24TKB_BILIARY_TRACT | 235860383 | 235860572 | 235860514 | 235860514 | Missense_Mutation | G | A | p.A3478V |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 235866047 | 235866277 | 235866061 | 235866061 | Missense_Mutation | C | T | p.E3454K |
| RMGI_OVARY | 235866047 | 235866277 | 235866090 | 235866090 | Missense_Mutation | G | A | p.A3444V |
| SNUC5_LARGE_INTESTINE | 235866047 | 235866277 | 235866114 | 235866114 | Missense_Mutation | G | A | p.A3436V |
| EFO27_OVARY | 235866047 | 235866277 | 235866225 | 235866225 | Missense_Mutation | G | A | p.A3399V |
| SNU1040_LARGE_INTESTINE | 235883961 | 235884205 | 235884000 | 235884000 | Missense_Mutation | A | T | p.V3174D |
| WM35_SKIN | 235883961 | 235884205 | 235884006 | 235884006 | Missense_Mutation | T | C | p.D3172G |
| SNU1272_KIDNEY | 235883961 | 235884205 | 235884007 | 235884007 | Missense_Mutation | C | T | p.D3172N |
| HCT15_LARGE_INTESTINE | 235883961 | 235884205 | 235884133 | 235884133 | Missense_Mutation | C | T | p.A3130T |
| SNU5_STOMACH | 235883961 | 235884205 | 235884162 | 235884162 | Missense_Mutation | G | T | p.P3120H |
| LS411N_LARGE_INTESTINE | 235891376 | 235891431 | 235891398 | 235891398 | Missense_Mutation | G | A | p.A3047V |
| MEWO_SKIN | 235896803 | 235896991 | 235896903 | 235896903 | Missense_Mutation | C | T | p.E2901K |
| HEC251_ENDOMETRIUM | 235896803 | 235896991 | 235896906 | 235896906 | Missense_Mutation | T | G | p.N2900H |
| LNCAPCLONEFGC_PROSTATE | 235896803 | 235896991 | 235896927 | 235896927 | Missense_Mutation | C | T | p.A2893T |
| SNU81_LARGE_INTESTINE | 235907279 | 235907457 | 235907283 | 235907283 | Missense_Mutation | G | T | p.S2716Y |
| COLO678_LARGE_INTESTINE | 235914510 | 235914662 | 235914525 | 235914525 | Missense_Mutation | G | A | p.R2589W |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 235914510 | 235914662 | 235914578 | 235914578 | Missense_Mutation | A | T | p.L2571H |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 235914510 | 235914662 | 235914636 | 235914636 | Missense_Mutation | C | T | p.V2552I |
| SNUC2A_LARGE_INTESTINE | 235914510 | 235914662 | 235914654 | 235914654 | Missense_Mutation | C | T | p.V2546I |
| SNUC2B_LARGE_INTESTINE | 235914510 | 235914662 | 235914654 | 235914654 | Missense_Mutation | C | T | p.V2546I |
| SNUC2B_LARGE_INTESTINE | 235920581 | 235920758 | 235920625 | 235920625 | Missense_Mutation | G | A | p.L2339F |
| DU145_PROSTATE | 235920581 | 235920758 | 235920661 | 235920661 | Missense_Mutation | T | C | p.M2327V |
| EN_ENDOMETRIUM | 235920581 | 235920758 | 235920665 | 235920665 | Missense_Mutation | A | T | p.D2325E |
| NCIH510_LUNG | 235920581 | 235920758 | 235920694 | 235920694 | Missense_Mutation | G | A | p.L2316F |
| SNU899_UPPER_AERODIGESTIVE_TRACT | 235933460 | 235933597 | 235933477 | 235933477 | Missense_Mutation | T | G | p.T1969P |
| EFO27_OVARY | 235940363 | 235940608 | 235940388 | 235940388 | Missense_Mutation | C | T | p.G1812D |
| NCIH358_LUNG | 235940363 | 235940608 | 235940394 | 235940394 | Missense_Mutation | C | G | p.G1810A |
| HEC6_ENDOMETRIUM | 235940363 | 235940608 | 235940407 | 235940407 | Missense_Mutation | G | A | p.H1806Y |
| JHOS3_OVARY | 235940363 | 235940608 | 235940508 | 235940508 | Missense_Mutation | T | C | p.Q1772R |
| SNU1_STOMACH | 235940363 | 235940608 | 235940565 | 235940565 | Missense_Mutation | T | C | p.Y1753C |
| JHOC5_OVARY | 235944165 | 235944355 | 235944203 | 235944203 | Missense_Mutation | A | G | p.F1726L |
| MRKNU1_BREAST | 235944165 | 235944355 | 235944207 | 235944207 | Missense_Mutation | T | G | p.E1724D |
| OC316_OVARY | 235944165 | 235944355 | 235944236 | 235944236 | Missense_Mutation | C | T | p.E1715K |
| OC314_OVARY | 235944165 | 235944355 | 235944236 | 235944236 | Missense_Mutation | C | T | p.E1715K |
| CCK81_LARGE_INTESTINE | 235944165 | 235944355 | 235944248 | 235944248 | Missense_Mutation | A | G | p.Y1711H |
| HCT15_LARGE_INTESTINE | 235944165 | 235944355 | 235944266 | 235944266 | Missense_Mutation | C | A | p.V1705F |
| MCC13_SKIN | 235944165 | 235944355 | 235944340 | 235944340 | Missense_Mutation | G | A | p.S1680L |
| NHAHTDD_CENTRAL_NERVOUS_SYSTEM | 235944165 | 235944355 | 235944346 | 235944346 | Missense_Mutation | A | G | p.V1678A |
| SNU1040_LARGE_INTESTINE | 235954999 | 235955425 | 235955100 | 235955100 | Missense_Mutation | A | G | p.V1481A |
| PK45H_PANCREAS | 235954999 | 235955425 | 235955244 | 235955244 | Missense_Mutation | C | T | p.R1433Q |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 235954999 | 235955425 | 235955288 | 235955288 | Missense_Mutation | T | G | p.L1418F |
| LC1F_LUNG | 235954999 | 235955425 | 235955329 | 235955329 | Missense_Mutation | A | C | p.L1405V |
| LC1SQSF_LUNG | 235954999 | 235955425 | 235955329 | 235955329 | Missense_Mutation | A | C | p.L1405V |
| LC1SQ_LUNG | 235954999 | 235955425 | 235955329 | 235955329 | Missense_Mutation | A | C | p.L1405V |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 235856650 | 235856786 | 235856757 | 235856757 | Nonsense_Mutation | G | A | p.Q3532* |
| HCT116_LARGE_INTESTINE | 235866047 | 235866277 | 235866097 | 235866097 | Nonsense_Mutation | G | A | p.Q3442* |
| HCC202_BREAST | 235907279 | 235907457 | 235907326 | 235907326 | Nonsense_Mutation | G | A | p.Q2702* |
| HEC251_ENDOMETRIUM | 235944165 | 235944355 | 235944209 | 235944209 | Nonsense_Mutation | C | A | p.E1724* |
| BEN_LUNG | 235856650 | 235856786 | 235856650 | 235856650 | Splice_Site | C | T | p.Q3567Q |
| COLO792_SKIN | 235866047 | 235866277 | 235866048 | 235866049 | Splice_Site | GG | AA | p.P3458L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LYST |
| 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 |
| exon_skip_38346 | 1 | 235938212:235938386:235940362:235940608:235944164:235944355 | 235940362:235940608 | ENST00000489585.1,ENST00000389794.3,ENST00000536965.1,ENST00000389793.2 | THCA | rs2273584 | chr1:235940450 | C/T | 1.27e-07 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LYST |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LYST |
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RelatedDrugs for LYST |
| 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 LYST |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| LYST | C0007965 | Chediak-Higashi Syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
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