|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for ACSS3 |
 Gene summary |
| Gene information | Gene symbol | ACSS3 | Gene ID | 79611 |
| Gene name | acyl-CoA synthetase short chain family member 3 | |
| Synonyms | - | |
| Cytomap | 12q21.31 | |
| Type of gene | protein-coding | |
| Description | acyl-CoA synthetase short-chain family member 3, mitochondrialAMP-binding enzyme, 33217 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9H6R3 | |
| Context | PubMed: ACSS3 [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 |
Top |
Exon skipping events across known transcript of Ensembl for ACSS3 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. |
 |
Top |
Gene isoform structures and expression levels for ACSS3 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for ACSS3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_85653 | 12 | 81470989:81472210:81503338:81503483:81528594:81528742 | 81503338:81503483 | ENSG00000111058.3 | ENST00000548058.1 |
| exon_skip_85656 | 12 | 81528594:81528783:81532909:81533044:81536885:81537026 | 81532909:81533044 | ENSG00000111058.3 | ENST00000548387.1,ENST00000261206.3,ENST00000548058.1 |
| exon_skip_85658 | 12 | 81545779:81545875:81568566:81568718:81593119:81593223 | 81568566:81568718 | ENSG00000111058.3 | ENST00000548324.1,ENST00000261206.3,ENST00000548058.1 |
| exon_skip_85659 | 12 | 81593119:81593223:81593438:81593490:81610679:81610775 | 81593438:81593490 | ENSG00000111058.3 | ENST00000546664.1 |
| exon_skip_85662 | 12 | 81610679:81610775:81613791:81613855:81624835:81624917 | 81613791:81613855 | ENSG00000111058.3 | ENST00000548324.1,ENST00000261206.3,ENST00000548058.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for ACSS3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_85653 | 12 | 81470989:81472210:81503338:81503483:81528594:81528742 | 81503338:81503483 | ENSG00000111058.3 | ENST00000548058.1 |
| exon_skip_85656 | 12 | 81528594:81528783:81532909:81533044:81536885:81537026 | 81532909:81533044 | ENSG00000111058.3 | ENST00000548058.1,ENST00000261206.3,ENST00000548387.1 |
| exon_skip_85658 | 12 | 81545779:81545875:81568566:81568718:81593119:81593223 | 81568566:81568718 | ENSG00000111058.3 | ENST00000548058.1,ENST00000261206.3,ENST00000548324.1 |
| exon_skip_85659 | 12 | 81593119:81593223:81593438:81593490:81610679:81610775 | 81593438:81593490 | ENSG00000111058.3 | ENST00000546664.1 |
| exon_skip_85662 | 12 | 81610679:81610775:81613791:81613855:81624835:81624917 | 81613791:81613855 | ENSG00000111058.3 | ENST00000548058.1,ENST00000261206.3,ENST00000548324.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ACSS3 |
| 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 |
| ENST00000548058 | 81503338 | 81503483 | Frame-shift |
| ENST00000548058 | 81568566 | 81568718 | Frame-shift |
| ENST00000548058 | 81613791 | 81613855 | Frame-shift |
| ENST00000548058 | 81532909 | 81533044 | 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 |
| ENST00000548058 | 81503338 | 81503483 | Frame-shift |
| ENST00000548058 | 81568566 | 81568718 | Frame-shift |
| ENST00000548058 | 81613791 | 81613855 | Frame-shift |
| ENST00000548058 | 81532909 | 81533044 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ACSS3 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000548058 | 4820 | 686 | 81532909 | 81533044 | 1556 | 1690 | 215 | 260 |
| 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 |
| ENST00000548058 | 4820 | 686 | 81532909 | 81533044 | 1556 | 1690 | 215 | 260 |
| 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 |
| Q9H6R3 | 215 | 260 | 1 | 318 | Alternative sequence | ID=VSP_031692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H6R3 | 215 | 260 | 30 | 686 | Chain | ID=PRO_0000320624;Note=Acyl-CoA synthetase short-chain family member 3%2C mitochondrial |
| Q9H6R3 | 215 | 260 | 227 | 230 | Region | Note=Coenzyme A binding;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| Q9H6R3 | 215 | 260 | 1 | 318 | Alternative sequence | ID=VSP_031692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H6R3 | 215 | 260 | 30 | 686 | Chain | ID=PRO_0000320624;Note=Acyl-CoA synthetase short-chain family member 3%2C mitochondrial |
| Q9H6R3 | 215 | 260 | 227 | 230 | Region | Note=Coenzyme A binding;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Top |
SNVs in the skipped exons for ACSS3 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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_85653 | 81503339 | 81503483 | 81503362 | 81503362 | Frame_Shift_Del | T | - | p.I112fs |
| LUAD | TCGA-NJ-A55R-01 | exon_skip_85656 | 81532910 | 81533044 | 81532956 | 81532956 | Frame_Shift_Del | G | - | p.R231fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_85658 | 81568567 | 81568718 | 81568578 | 81568578 | Frame_Shift_Del | G | - | p.V370fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_85658 | 81568567 | 81568718 | 81568680 | 81568680 | Frame_Shift_Del | C | - | p.D404fs |
| BRCA | TCGA-A8-A094-01 | exon_skip_85658 | 81568567 | 81568718 | 81568684 | 81568697 | Frame_Shift_Del | GGGGCAGCTTTGGG | - | p.G406fs |
| COAD | TCGA-CA-6718-01 | exon_skip_85653 | 81503339 | 81503483 | 81503391 | 81503391 | Nonsense_Mutation | G | T | p.E122X |
| COAD | TCGA-CA-6717-01 | exon_skip_85653 | 81503339 | 81503483 | 81503338 | 81503338 | Splice_Site | G | A | . |
| - 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 |
| KYSE450_OESOPHAGUS | 81503339 | 81503483 | 81503404 | 81503404 | Missense_Mutation | G | T | p.G126V |
| AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 81503339 | 81503483 | 81503451 | 81503451 | Missense_Mutation | G | A | p.A142T |
| SNU1040_LARGE_INTESTINE | 81532910 | 81533044 | 81533034 | 81533034 | Missense_Mutation | G | A | p.R257H |
| UMC11_LUNG | 81568567 | 81568718 | 81568677 | 81568677 | Missense_Mutation | G | T | p.Q403H |
| NCIH209_LUNG | 81613792 | 81613855 | 81613794 | 81613794 | Missense_Mutation | A | G | p.M485V |
| COLO792_SKIN | 81613792 | 81613855 | 81613831 | 81613831 | Missense_Mutation | G | A | p.R497Q |
| LC2AD_LUNG | 81613792 | 81613855 | 81613851 | 81613851 | Missense_Mutation | G | T | p.V504L |
| KE39_STOMACH | 81503339 | 81503483 | 81503465 | 81503465 | Nonsense_Mutation | T | G | p.Y146* |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 81532910 | 81533044 | 81533043 | 81533043 | Splice_Site | T | C | p.M260T |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACSS3 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACSS3 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACSS3 |
Top |
RelatedDrugs for ACSS3 |
| 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 |
Top |
RelatedDiseases for ACSS3 |
| 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)
|