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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 ASCC3 |
 Gene summary |
| Gene information | Gene symbol | ASCC3 | Gene ID | 10973 |
| Gene name | activating signal cointegrator 1 complex subunit 3 | |
| Synonyms | ASC1p200|HELIC1|RNAH | |
| Cytomap | 6q16.3 | |
| Type of gene | protein-coding | |
| Description | activating signal cointegrator 1 complex subunit 3ASC-1 complex subunit P200RNA helicase familyhelicase, ATP binding 1trip4 complex subunit p200 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8N3C0 | |
| Context | PubMed: ASCC3 [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 |
| ASCC3 | GO:0006307 | DNA dealkylation involved in DNA repair | 22055184 |
| ASCC3 | GO:0032508 | DNA duplex unwinding | 22055184 |
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Exon skipping events across known transcript of Ensembl for ASCC3 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 ASCC3 |
| 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 ASCC3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_461343 | 6 | 100965866:100966018:100988038:100988263:101037509:101037644 | 100988038:100988263 | ENSG00000112249.9 | ENST00000369162.2 |
| exon_skip_461347 | 6 | 101095163:101095327:101098413:101098590:101099435:101099522 | 101098413:101098590 | ENSG00000112249.9 | ENST00000324696.4,ENST00000369162.2 |
| exon_skip_461348 | 6 | 101165950:101166127:101173414:101173579:101214440:101214581 | 101173414:101173579 | ENSG00000112249.9 | ENST00000324696.4,ENST00000522650.1,ENST00000369162.2 |
| exon_skip_461350 | 6 | 101215020:101215221:101246588:101246714:101247306:101247448 | 101246588:101246714 | ENSG00000112249.9 | ENST00000324696.4,ENST00000522650.1,ENST00000369162.2 |
| exon_skip_461351 | 6 | 101253635:101253756:101296023:101296583:101311939:101312090 | 101296023:101296583 | ENSG00000112249.9 | ENST00000522650.1,ENST00000369162.2 |
| exon_skip_461353 | 6 | 101253635:101253756:101296023:101296583:101315783:101315908 | 101296023:101296583 | ENSG00000112249.9 | ENST00000324696.4 |
| exon_skip_461358 | 6 | 101296295:101296583:101311939:101312090:101315783:101315908 | 101311939:101312090 | ENSG00000112249.9 | ENST00000324723.6,ENST00000522650.1,ENST00000468245.2,ENST00000369162.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ASCC3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_461343 | 6 | 100965866:100966018:100988038:100988263:101037509:101037644 | 100988038:100988263 | ENSG00000112249.9 | ENST00000369162.2 |
| exon_skip_461347 | 6 | 101095163:101095327:101098413:101098590:101099435:101099522 | 101098413:101098590 | ENSG00000112249.9 | ENST00000369162.2,ENST00000324696.4 |
| exon_skip_461348 | 6 | 101165950:101166127:101173414:101173579:101214440:101214581 | 101173414:101173579 | ENSG00000112249.9 | ENST00000369162.2,ENST00000324696.4,ENST00000522650.1 |
| exon_skip_461350 | 6 | 101215020:101215221:101246588:101246714:101247306:101247448 | 101246588:101246714 | ENSG00000112249.9 | ENST00000369162.2,ENST00000324696.4,ENST00000522650.1 |
| exon_skip_461351 | 6 | 101253635:101253756:101296023:101296583:101311939:101312090 | 101296023:101296583 | ENSG00000112249.9 | ENST00000369162.2,ENST00000522650.1 |
| exon_skip_461353 | 6 | 101253635:101253756:101296023:101296583:101315783:101315908 | 101296023:101296583 | ENSG00000112249.9 | ENST00000324696.4 |
| exon_skip_461358 | 6 | 101296295:101296583:101311939:101312090:101315783:101315908 | 101311939:101312090 | ENSG00000112249.9 | ENST00000369162.2,ENST00000522650.1,ENST00000468245.2,ENST00000324723.6 |
| 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 ASCC3 |
| 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 |
| ENST00000369162 | 101296023 | 101296583 | Frame-shift |
| ENST00000369162 | 101311939 | 101312090 | Frame-shift |
| ENST00000369162 | 100988038 | 100988263 | In-frame |
| ENST00000369162 | 101098413 | 101098590 | In-frame |
| ENST00000369162 | 101173414 | 101173579 | In-frame |
| ENST00000369162 | 101246588 | 101246714 | 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 |
| ENST00000369162 | 101296023 | 101296583 | Frame-shift |
| ENST00000369162 | 101311939 | 101312090 | Frame-shift |
| ENST00000369162 | 100988038 | 100988263 | In-frame |
| ENST00000369162 | 101098413 | 101098590 | In-frame |
| ENST00000369162 | 101173414 | 101173579 | In-frame |
| ENST00000369162 | 101246588 | 101246714 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ASCC3 |
| 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 |
| ENST00000369162 | 8163 | 2202 | 101246588 | 101246714 | 1615 | 1740 | 423 | 465 |
| ENST00000369162 | 8163 | 2202 | 101173414 | 101173579 | 2083 | 2247 | 579 | 634 |
| ENST00000369162 | 8163 | 2202 | 101098413 | 101098590 | 3421 | 3597 | 1025 | 1084 |
| ENST00000369162 | 8163 | 2202 | 100988038 | 100988263 | 5896 | 6120 | 1850 | 1925 |
| 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 |
| ENST00000369162 | 8163 | 2202 | 101246588 | 101246714 | 1615 | 1740 | 423 | 465 |
| ENST00000369162 | 8163 | 2202 | 101173414 | 101173579 | 2083 | 2247 | 579 | 634 |
| ENST00000369162 | 8163 | 2202 | 101098413 | 101098590 | 3421 | 3597 | 1025 | 1084 |
| ENST00000369162 | 8163 | 2202 | 100988038 | 100988263 | 5896 | 6120 | 1850 | 1925 |
| 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 |
| Q8N3C0 | 423 | 465 | 112 | 2202 | Alternative sequence | ID=VSP_042956;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q8N3C0 | 423 | 465 | 1 | 2202 | Chain | ID=PRO_0000102093;Note=Activating signal cointegrator 1 complex subunit 3 |
| Q8N3C0 | 423 | 465 | 444 | 444 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N3C0 | 579 | 634 | 112 | 2202 | Alternative sequence | ID=VSP_042956;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q8N3C0 | 579 | 634 | 1 | 2202 | Chain | ID=PRO_0000102093;Note=Activating signal cointegrator 1 complex subunit 3 |
| Q8N3C0 | 579 | 634 | 486 | 669 | Domain | Note=Helicase ATP-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| Q8N3C0 | 579 | 634 | 611 | 614 | Motif | Note=DEVH box |
| Q8N3C0 | 579 | 634 | 582 | 582 | Sequence conflict | Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N3C0 | 1025 | 1084 | 112 | 2202 | Alternative sequence | ID=VSP_042956;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q8N3C0 | 1025 | 1084 | 732 | 2202 | Alternative sequence | ID=VSP_042958;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N3C0 | 1025 | 1084 | 1 | 2202 | Chain | ID=PRO_0000102093;Note=Activating signal cointegrator 1 complex subunit 3 |
| Q8N3C0 | 1025 | 1084 | 978 | 1287 | Domain | Note=SEC63 1 |
| Q8N3C0 | 1025 | 1084 | 1050 | 1050 | Natural variant | ID=VAR_034860;Note=V->I;Dbxref=dbSNP:rs9497983 |
| Q8N3C0 | 1850 | 1925 | 112 | 2202 | Alternative sequence | ID=VSP_042956;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q8N3C0 | 1850 | 1925 | 732 | 2202 | Alternative sequence | ID=VSP_042958;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N3C0 | 1850 | 1925 | 1 | 2202 | Chain | ID=PRO_0000102093;Note=Activating signal cointegrator 1 complex subunit 3 |
| Q8N3C0 | 1850 | 1925 | 1812 | 2176 | Domain | Note=SEC63 2 |
| 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 |
| Q8N3C0 | 423 | 465 | 112 | 2202 | Alternative sequence | ID=VSP_042956;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q8N3C0 | 423 | 465 | 1 | 2202 | Chain | ID=PRO_0000102093;Note=Activating signal cointegrator 1 complex subunit 3 |
| Q8N3C0 | 423 | 465 | 444 | 444 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N3C0 | 579 | 634 | 112 | 2202 | Alternative sequence | ID=VSP_042956;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q8N3C0 | 579 | 634 | 1 | 2202 | Chain | ID=PRO_0000102093;Note=Activating signal cointegrator 1 complex subunit 3 |
| Q8N3C0 | 579 | 634 | 486 | 669 | Domain | Note=Helicase ATP-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| Q8N3C0 | 579 | 634 | 611 | 614 | Motif | Note=DEVH box |
| Q8N3C0 | 579 | 634 | 582 | 582 | Sequence conflict | Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N3C0 | 1025 | 1084 | 112 | 2202 | Alternative sequence | ID=VSP_042956;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q8N3C0 | 1025 | 1084 | 732 | 2202 | Alternative sequence | ID=VSP_042958;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N3C0 | 1025 | 1084 | 1 | 2202 | Chain | ID=PRO_0000102093;Note=Activating signal cointegrator 1 complex subunit 3 |
| Q8N3C0 | 1025 | 1084 | 978 | 1287 | Domain | Note=SEC63 1 |
| Q8N3C0 | 1025 | 1084 | 1050 | 1050 | Natural variant | ID=VAR_034860;Note=V->I;Dbxref=dbSNP:rs9497983 |
| Q8N3C0 | 1850 | 1925 | 112 | 2202 | Alternative sequence | ID=VSP_042956;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q8N3C0 | 1850 | 1925 | 732 | 2202 | Alternative sequence | ID=VSP_042958;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N3C0 | 1850 | 1925 | 1 | 2202 | Chain | ID=PRO_0000102093;Note=Activating signal cointegrator 1 complex subunit 3 |
| Q8N3C0 | 1850 | 1925 | 1812 | 2176 | Domain | Note=SEC63 2 |
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SNVs in the skipped exons for ASCC3 |
| - 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-A3A0-01 | exon_skip_461347 | 101098414 | 101098590 | 101098542 | 101098542 | Frame_Shift_Del | A | - | p.C1042fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_461347 | 101098414 | 101098590 | 101098556 | 101098556 | Frame_Shift_Del | A | - | p.L1038fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_461351 exon_skip_461353 | 101296024 | 101296583 | 101296173 | 101296173 | Frame_Shift_Del | T | - | p.T218fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_461351 exon_skip_461353 | 101296024 | 101296583 | 101296196 | 101296196 | Frame_Shift_Del | G | - | p.P210fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_461351 exon_skip_461353 | 101296024 | 101296583 | 101296336 | 101296336 | Frame_Shift_Del | A | - | p.F163fs |
| STAD | TCGA-BR-8591-01 | exon_skip_461351 exon_skip_461353 | 101296024 | 101296583 | 101296505 | 101296506 | Frame_Shift_Del | AC | - | p.107_107del |
| STAD | TCGA-BR-8591-01 | exon_skip_461351 exon_skip_461353 | 101296024 | 101296583 | 101296505 | 101296506 | Frame_Shift_Del | AC | - | p.V107fs |
| STAD | TCGA-BR-7707-01 | exon_skip_461351 exon_skip_461353 | 101296024 | 101296583 | 101296172 | 101296173 | Frame_Shift_Ins | - | T | p.T218fs |
| UCEC | TCGA-D1-A177-01 | exon_skip_461351 exon_skip_461353 | 101296024 | 101296583 | 101296335 | 101296336 | Frame_Shift_Ins | - | A | p.F163fs |
| HNSC | TCGA-CV-A45O-01 | exon_skip_461347 | 101098414 | 101098590 | 101098482 | 101098482 | Nonsense_Mutation | G | A | p.Q1062* |
| BLCA | TCGA-DK-AA75-01 | exon_skip_461351 exon_skip_461353 | 101296024 | 101296583 | 101296316 | 101296316 | Nonsense_Mutation | G | T | p.S170* |
| LGG | TCGA-DU-6392-01 | exon_skip_461351 exon_skip_461353 | 101296024 | 101296583 | 101296419 | 101296419 | Nonsense_Mutation | G | A | p.R136* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_461351 exon_skip_461353 | 101296024 | 101296583 | 101296563 | 101296563 | Nonsense_Mutation | C | A | p.E88* |
| CESC | TCGA-C5-A1MN-01 | exon_skip_461358 | 101311940 | 101312090 | 101312040 | 101312040 | Nonsense_Mutation | C | T | p.W47* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-L5-A8NM-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_461353 | |
| Skipped exon start: 101296024 | |
| Skipped exon end: 101296583 | |
| Mutation start: 101296336 | |
| Mutation end: 101296336 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.F163fs | |
exon_skip_126510_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_145922_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_20931_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_290909_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_301129_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_308211_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_308974_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_310302_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_329666_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_330701_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_330704_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_356820_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_356824_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_370065_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_389081_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_421270_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_433436_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_461351_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_461353_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_464726_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_47552_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_517614_ESCA_TCGA-L5-A8NM-01.png | |
 | Sample: TCGA-BR-8591-01 |
| Cancer type: STAD | |
| ESID: exon_skip_461353 | |
| Skipped exon start: 101296024 | |
| Skipped exon end: 101296583 | |
| Mutation start: 101296505 | |
| Mutation end: 101296506 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: AC | |
| Mutation seq: - | |
| AAchange: p.107_107del | |
| Sample: TCGA-BR-8591-01 |
| Cancer type: STAD | |
| ESID: exon_skip_461353 | |
| Skipped exon start: 101296024 | |
| Skipped exon end: 101296583 | |
| Mutation start: 101296505 | |
| Mutation end: 101296506 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: AC | |
| Mutation seq: - | |
| AAchange: p.V107fs | |
exon_skip_139886_STAD_TCGA-BR-8591-01.png | |
exon_skip_22733_STAD_TCGA-BR-8591-01.png | |
exon_skip_344506_STAD_TCGA-BR-8591-01.png | |
exon_skip_344507_STAD_TCGA-BR-8591-01.png | |
exon_skip_347690_STAD_TCGA-BR-8591-01.png | |
exon_skip_461353_STAD_TCGA-BR-8591-01.png | |
exon_skip_462689_STAD_TCGA-BR-8591-01.png | |
exon_skip_463441_STAD_TCGA-BR-8591-01.png | |
exon_skip_468148_STAD_TCGA-BR-8591-01.png | |
exon_skip_468149_STAD_TCGA-BR-8591-01.png | |
exon_skip_487281_STAD_TCGA-BR-8591-01.png | |
exon_skip_496407_STAD_TCGA-BR-8591-01.png | |
exon_skip_508189_STAD_TCGA-BR-8591-01.png | |
exon_skip_84502_STAD_TCGA-BR-8591-01.png | |
 | Sample: TCGA-BR-7707-01 |
| Cancer type: STAD | |
| ESID: exon_skip_461353 | |
| Skipped exon start: 101296024 | |
| Skipped exon end: 101296583 | |
| Mutation start: 101296172 | |
| Mutation end: 101296173 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.T218fs | |
exon_skip_107867_STAD_TCGA-BR-7707-01.png | |
exon_skip_133403_STAD_TCGA-BR-7707-01.png | |
exon_skip_138373_STAD_TCGA-BR-7707-01.png | |
exon_skip_143275_STAD_TCGA-BR-7707-01.png | |
exon_skip_149455_STAD_TCGA-BR-7707-01.png | |
exon_skip_333295_STAD_TCGA-BR-7707-01.png | |
exon_skip_333833_STAD_TCGA-BR-7707-01.png | |
exon_skip_358288_STAD_TCGA-BR-7707-01.png | |
exon_skip_456871_STAD_TCGA-BR-7707-01.png | |
exon_skip_461351_STAD_TCGA-BR-7707-01.png | |
exon_skip_464232_STAD_TCGA-BR-7707-01.png | |
exon_skip_48394_STAD_TCGA-BR-7707-01.png | |
exon_skip_82386_STAD_TCGA-BR-7707-01.png | |
exon_skip_82432_STAD_TCGA-BR-7707-01.png | |
exon_skip_82433_STAD_TCGA-BR-7707-01.png | |
exon_skip_86786_STAD_TCGA-BR-7707-01.png | |
 | Sample: TCGA-L5-A8NM-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_461353 | |
| Skipped exon start: 101296024 | |
| Skipped exon end: 101296583 | |
| Mutation start: 101296336 | |
| Mutation end: 101296336 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.F163fs | |
| exon_skip_126510_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_145922_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_20931_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_290909_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_301129_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_308211_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_308974_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_310302_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_329666_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_330701_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_330704_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_356820_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_356824_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_370065_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_389081_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_421270_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_433436_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_461351_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_461353_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_464726_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_47552_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_517614_ESCA_TCGA-L5-A8NM-01.png | |
 | Sample: TCGA-BR-8591-01 |
| Cancer type: STAD | |
| ESID: exon_skip_461353 | |
| Skipped exon start: 101296024 | |
| Skipped exon end: 101296583 | |
| Mutation start: 101296505 | |
| Mutation end: 101296506 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: AC | |
| Mutation seq: - | |
| AAchange: p.107_107del | |
| Sample: TCGA-BR-8591-01 |
| Cancer type: STAD | |
| ESID: exon_skip_461353 | |
| Skipped exon start: 101296024 | |
| Skipped exon end: 101296583 | |
| Mutation start: 101296505 | |
| Mutation end: 101296506 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: AC | |
| Mutation seq: - | |
| AAchange: p.V107fs | |
| exon_skip_139886_STAD_TCGA-BR-8591-01.png | |
| exon_skip_22733_STAD_TCGA-BR-8591-01.png | |
| exon_skip_344506_STAD_TCGA-BR-8591-01.png | |
| exon_skip_344507_STAD_TCGA-BR-8591-01.png | |
| exon_skip_347690_STAD_TCGA-BR-8591-01.png | |
| exon_skip_461353_STAD_TCGA-BR-8591-01.png | |
| exon_skip_462689_STAD_TCGA-BR-8591-01.png | |
| exon_skip_463441_STAD_TCGA-BR-8591-01.png | |
| exon_skip_468148_STAD_TCGA-BR-8591-01.png | |
| exon_skip_468149_STAD_TCGA-BR-8591-01.png | |
| exon_skip_487281_STAD_TCGA-BR-8591-01.png | |
| exon_skip_496407_STAD_TCGA-BR-8591-01.png | |
| exon_skip_508189_STAD_TCGA-BR-8591-01.png | |
| exon_skip_84502_STAD_TCGA-BR-8591-01.png | |
 | Sample: TCGA-BR-7707-01 |
| Cancer type: STAD | |
| ESID: exon_skip_461353 | |
| Skipped exon start: 101296024 | |
| Skipped exon end: 101296583 | |
| Mutation start: 101296172 | |
| Mutation end: 101296173 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.T218fs | |
| exon_skip_107867_STAD_TCGA-BR-7707-01.png | |
| exon_skip_133403_STAD_TCGA-BR-7707-01.png | |
| exon_skip_138373_STAD_TCGA-BR-7707-01.png | |
| exon_skip_143275_STAD_TCGA-BR-7707-01.png | |
| exon_skip_149455_STAD_TCGA-BR-7707-01.png | |
| exon_skip_333295_STAD_TCGA-BR-7707-01.png | |
| exon_skip_333833_STAD_TCGA-BR-7707-01.png | |
| exon_skip_358288_STAD_TCGA-BR-7707-01.png | |
| exon_skip_456871_STAD_TCGA-BR-7707-01.png | |
| exon_skip_461351_STAD_TCGA-BR-7707-01.png | |
| exon_skip_464232_STAD_TCGA-BR-7707-01.png | |
| exon_skip_48394_STAD_TCGA-BR-7707-01.png | |
| exon_skip_82386_STAD_TCGA-BR-7707-01.png | |
| exon_skip_82432_STAD_TCGA-BR-7707-01.png | |
| exon_skip_82433_STAD_TCGA-BR-7707-01.png | |
| exon_skip_86786_STAD_TCGA-BR-7707-01.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 |
| 22RV1_PROSTATE | 101296024 | 101296583 | 101296336 | 101296336 | Frame_Shift_Del | A | - | p.F163fs |
| PACADD137_PANCREAS | 101296024 | 101296583 | 101296336 | 101296336 | Frame_Shift_Del | A | - | p.F163fs |
| SISO_CERVIX | 101296024 | 101296583 | 101296336 | 101296336 | Frame_Shift_Del | A | - | p.F163fs |
| SNUC2A_LARGE_INTESTINE | 101296024 | 101296583 | 101296336 | 101296336 | Frame_Shift_Del | A | - | p.F163fs |
| LS180_LARGE_INTESTINE | 101296024 | 101296583 | 101296336 | 101296336 | Frame_Shift_Del | A | - | p.F163fs |
| GP5D_LARGE_INTESTINE | 101296024 | 101296583 | 101296336 | 101296336 | Frame_Shift_Del | A | - | p.F163fs |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 101296024 | 101296583 | 101296336 | 101296336 | Frame_Shift_Del | A | - | p.F163fs |
| SNUC2B_LARGE_INTESTINE | 101296024 | 101296583 | 101296336 | 101296336 | Frame_Shift_Del | A | - | p.F163fs |
| SNUC5_LARGE_INTESTINE | 101296024 | 101296583 | 101296343 | 101296344 | Frame_Shift_Ins | - | C | p.V161fs |
| NB17_AUTONOMIC_GANGLIA | 100988039 | 100988263 | 100988062 | 100988062 | Missense_Mutation | C | A | p.D1918Y |
| KM12_LARGE_INTESTINE | 100988039 | 100988263 | 100988082 | 100988082 | Missense_Mutation | G | A | p.T1911I |
| NCIH1770_LUNG | 100988039 | 100988263 | 100988100 | 100988100 | Missense_Mutation | G | A | p.P1905L |
| NCIH2106_LUNG | 100988039 | 100988263 | 100988100 | 100988100 | Missense_Mutation | G | A | p.P1905L |
| BFTC905_URINARY_TRACT | 100988039 | 100988263 | 100988136 | 100988136 | Missense_Mutation | A | G | p.L1893P |
| HMCB_SKIN | 100988039 | 100988263 | 100988148 | 100988148 | Missense_Mutation | G | C | p.T1889S |
| MDAMB468_BREAST | 101098414 | 101098590 | 101098425 | 101098425 | Missense_Mutation | A | G | p.Y1081H |
| OVTOKO_OVARY | 101098414 | 101098590 | 101098463 | 101098463 | Missense_Mutation | C | T | p.G1068E |
| DSH1_URINARY_TRACT | 101098414 | 101098590 | 101098521 | 101098521 | Missense_Mutation | C | T | p.G1049S |
| RERFGC1B_STOMACH | 101098414 | 101098590 | 101098572 | 101098572 | Missense_Mutation | C | G | p.E1032Q |
| HARA_LUNG | 101098414 | 101098590 | 101098573 | 101098573 | Missense_Mutation | T | C | p.I1031M |
| SNU175_LARGE_INTESTINE | 101173415 | 101173579 | 101173440 | 101173440 | Missense_Mutation | C | T | p.S626N |
| MEWO_SKIN | 101246589 | 101246714 | 101246654 | 101246654 | Missense_Mutation | G | A | p.P444S |
| WM2664_SKIN | 101246589 | 101246714 | 101246698 | 101246698 | Missense_Mutation | C | A | p.G429V |
| WM115_SKIN | 101246589 | 101246714 | 101246698 | 101246698 | Missense_Mutation | C | A | p.G429V |
| WM115_SKIN | 101246589 | 101246714 | 101246698 | 101246699 | Missense_Mutation | CC | AA | p.G429L |
| SLR24_KIDNEY | 101296024 | 101296583 | 101296043 | 101296043 | Missense_Mutation | C | A | p.G261V |
| A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 101296024 | 101296583 | 101296172 | 101296172 | Missense_Mutation | G | T | p.T218K |
| SNU81_LARGE_INTESTINE | 101296024 | 101296583 | 101296234 | 101296234 | Missense_Mutation | C | A | p.K197N |
| MS1_SKIN | 101296024 | 101296583 | 101296298 | 101296298 | Missense_Mutation | A | G | p.L176S |
| MS1_LUNG | 101296024 | 101296583 | 101296298 | 101296298 | Missense_Mutation | A | G | p.L176S |
| LS180_LARGE_INTESTINE | 101296024 | 101296583 | 101296343 | 101296343 | Missense_Mutation | A | C | p.V161G |
| HCC2998_LARGE_INTESTINE | 101296024 | 101296583 | 101296418 | 101296418 | Missense_Mutation | C | T | p.R136Q |
| LOXIMVI_SKIN | 101296024 | 101296583 | 101296421 | 101296421 | Missense_Mutation | T | A | p.N135I |
| HSC3_UPPER_AERODIGESTIVE_TRACT | 101296024 | 101296583 | 101296446 | 101296446 | Missense_Mutation | C | A | p.A127S |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 101296024 | 101296583 | 101296514 | 101296514 | Missense_Mutation | T | C | p.K104R |
| TOV21G_OVARY | 101296024 | 101296583 | 101296569 | 101296569 | Missense_Mutation | C | A | p.G86W |
| DU145_PROSTATE | 101296024 | 101296583 | 101296569 | 101296569 | Missense_Mutation | C | A | p.G86W |
| MDAPCA2B_PROSTATE | 101311940 | 101312090 | 101311990 | 101311990 | Missense_Mutation | T | C | p.Q64R |
| NCIH513_PLEURA | 101311940 | 101312090 | 101312083 | 101312083 | Missense_Mutation | C | T | p.R33Q |
| YAPC_PANCREAS | 101311940 | 101312090 | 101312083 | 101312083 | Missense_Mutation | C | T | p.R33Q |
| TK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 101246589 | 101246714 | 101246591 | 101246591 | Nonsense_Mutation | C | A | p.E465* |
| WM2664_SKIN | 101246589 | 101246714 | 101246699 | 101246699 | Nonsense_Mutation | C | A | p.G429* |
| WM115_SKIN | 101246589 | 101246714 | 101246699 | 101246699 | Nonsense_Mutation | C | A | p.G429* |
| DOTC24510_CERVIX | 101296024 | 101296583 | 101296032 | 101296032 | Nonsense_Mutation | G | A | p.Q265* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ASCC3 |
| 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_461351 | 6 | 101253635:101253756:101296023:101296583:101311939:101312090 | 101296023:101296583 | ENST00000522650.1,ENST00000369162.2 | ESCA | rs9390698 | chr6:101296389 | G/A | 4.14e-04 |
| exon_skip_461351 | 6 | 101253635:101253756:101296023:101296583:101311939:101312090 | 101296023:101296583 | ENST00000522650.1,ENST00000369162.2 | BRCA | rs9390698 | chr6:101296389 | G/A | 7.73e-08 |
| exon_skip_461351 | 6 | 101253635:101253756:101296023:101296583:101311939:101312090 | 101296023:101296583 | ENST00000522650.1,ENST00000369162.2 | LGG | rs9390698 | chr6:101296389 | G/A | 3.76e-03 |
| exon_skip_461351 | 6 | 101253635:101253756:101296023:101296583:101311939:101312090 | 101296023:101296583 | ENST00000522650.1,ENST00000369162.2 | KIRC | rs9390698 | chr6:101296389 | G/A | 5.74e-05 |
| exon_skip_461351 | 6 | 101253635:101253756:101296023:101296583:101311939:101312090 | 101296023:101296583 | ENST00000522650.1,ENST00000369162.2 | PRAD | rs9390698 | chr6:101296389 | G/A | 4.41e-04 |
| exon_skip_461351 | 6 | 101253635:101253756:101296023:101296583:101311939:101312090 | 101296023:101296583 | ENST00000522650.1,ENST00000369162.2 | THCA | rs9390698 | chr6:101296389 | G/A | 1.39e-09 |
| exon_skip_461351 | 6 | 101253635:101253756:101296023:101296583:101311939:101312090 | 101296023:101296583 | ENST00000522650.1,ENST00000369162.2 | UCEC | rs9390698 | chr6:101296389 | G/A | 3.74e-04 |
| exon_skip_461353 | 6 | 101253635:101253756:101296023:101296583:101315783:101315908 | 101296023:101296583 | ENST00000324696.4 | ESCA | rs9390698 | chr6:101296389 | G/A | 4.14e-04 |
| exon_skip_461353 | 6 | 101253635:101253756:101296023:101296583:101315783:101315908 | 101296023:101296583 | ENST00000324696.4 | BRCA | rs9390698 | chr6:101296389 | G/A | 7.73e-08 |
| exon_skip_461353 | 6 | 101253635:101253756:101296023:101296583:101315783:101315908 | 101296023:101296583 | ENST00000324696.4 | LGG | rs9390698 | chr6:101296389 | G/A | 3.76e-03 |
| exon_skip_461353 | 6 | 101253635:101253756:101296023:101296583:101315783:101315908 | 101296023:101296583 | ENST00000324696.4 | KIRC | rs9390698 | chr6:101296389 | G/A | 5.74e-05 |
| exon_skip_461353 | 6 | 101253635:101253756:101296023:101296583:101315783:101315908 | 101296023:101296583 | ENST00000324696.4 | PRAD | rs9390698 | chr6:101296389 | G/A | 4.41e-04 |
| exon_skip_461353 | 6 | 101253635:101253756:101296023:101296583:101315783:101315908 | 101296023:101296583 | ENST00000324696.4 | THCA | rs9390698 | chr6:101296389 | G/A | 1.39e-09 |
| exon_skip_461353 | 6 | 101253635:101253756:101296023:101296583:101315783:101315908 | 101296023:101296583 | ENST00000324696.4 | UCEC | rs9390698 | chr6:101296389 | G/A | 3.74e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ASCC3 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ASCC3 |
Top |
RelatedDrugs for ASCC3 |
| 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 ASCC3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ASCC3 | C3714756 | Intellectual Disability | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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