|
||||||
|
 | |
| |
| |
| |
| 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 COASY |
 Gene summary |
| Gene information | Gene symbol | COASY | Gene ID | 80347 |
| Gene name | Coenzyme A synthase | |
| Synonyms | DPCK|NBIA6|NBP|PPAT|UKR1|pOV-2 | |
| Cytomap | 17q21.2 | |
| Type of gene | protein-coding | |
| Description | bifunctional coenzyme A synthaseCoA synthasebifunctional phosphopantetheine adenylyl transferase/dephospho CoA kinasenucleotide binding proteinphosphopantetheine adenylyltransferase / dephosphocoenzyme A kinase | |
| Modification date | 20180523 | |
| UniProtAcc | Q13057 | |
| Context | PubMed: COASY [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 |
| COASY | GO:0015937 | coenzyme A biosynthetic process | 11923312 |
Top |
Exon skipping events across known transcript of Ensembl for COASY 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 COASY |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for COASY |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_152690 | 17 | 40714168:40714237:40714313:40714505:40714629:40714848 | 40714313:40714505 | ENSG00000068120.10 | ENST00000587858.1 |
| exon_skip_152692 | 17 | 40714168:40714237:40714373:40714505:40714629:40714848 | 40714373:40714505 | ENSG00000068120.10 | ENST00000590958.1 |
| exon_skip_152694 | 17 | 40714168:40714237:40714373:40715340:40715978:40716193 | 40714373:40715340 | ENSG00000068120.10 | ENST00000420359.1 |
| exon_skip_152698 | 17 | 40714168:40714237:40714629:40715340:40715978:40716193 | 40714629:40715340 | ENSG00000068120.10 | ENST00000421097.2 |
| exon_skip_152701 | 17 | 40714168:40714237:40714950:40715340:40715978:40716193 | 40714950:40715340 | ENSG00000068120.10 | ENST00000591779.1,ENST00000449624.1 |
| exon_skip_152709 | 17 | 40714950:40715340:40715978:40716193:40716463:40716595 | 40715978:40716193 | ENSG00000068120.10 | ENST00000421097.2,ENST00000591779.1,ENST00000393818.2,ENST00000449624.1,ENST00000420359.1,ENST00000590958.1 |
| exon_skip_152712 | 17 | 40716490:40716595:40716726:40716916:40717000:40717065 | 40716726:40716916 | ENSG00000068120.10 | ENST00000591753.1,ENST00000421097.2,ENST00000393818.2,ENST00000449624.1,ENST00000420359.1,ENST00000590958.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for COASY |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_152692 | 17 | 40714168:40714237:40714373:40714505:40714629:40714848 | 40714373:40714505 | ENSG00000068120.10 | ENST00000590958.1 |
| exon_skip_152694 | 17 | 40714168:40714237:40714373:40715340:40715978:40716193 | 40714373:40715340 | ENSG00000068120.10 | ENST00000420359.1 |
| exon_skip_152698 | 17 | 40714168:40714237:40714629:40715340:40715978:40716193 | 40714629:40715340 | ENSG00000068120.10 | ENST00000421097.2 |
| exon_skip_152701 | 17 | 40714168:40714237:40714950:40715340:40715978:40716193 | 40714950:40715340 | ENSG00000068120.10 | ENST00000449624.1,ENST00000591779.1 |
| exon_skip_152709 | 17 | 40714950:40715340:40715978:40716193:40716463:40716595 | 40715978:40716193 | ENSG00000068120.10 | ENST00000420359.1,ENST00000449624.1,ENST00000421097.2,ENST00000591779.1,ENST00000590958.1,ENST00000393818.2 |
| exon_skip_152712 | 17 | 40716490:40716595:40716726:40716916:40717000:40717065 | 40716726:40716916 | ENSG00000068120.10 | ENST00000420359.1,ENST00000449624.1,ENST00000421097.2,ENST00000590958.1,ENST00000393818.2,ENST00000591753.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for COASY |
| 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 |
| ENST00000421097 | 40714629 | 40715340 | 5CDS-5UTR |
| ENST00000393818 | 40715978 | 40716193 | Frame-shift |
| ENST00000421097 | 40715978 | 40716193 | Frame-shift |
| ENST00000393818 | 40716726 | 40716916 | Frame-shift |
| ENST00000421097 | 40716726 | 40716916 | Frame-shift |
| 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 |
| ENST00000421097 | 40714629 | 40715340 | 5CDS-5UTR |
| ENST00000393818 | 40715978 | 40716193 | Frame-shift |
| ENST00000421097 | 40715978 | 40716193 | Frame-shift |
| ENST00000393818 | 40716726 | 40716916 | Frame-shift |
| ENST00000421097 | 40716726 | 40716916 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for COASY |
| 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 |
| 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 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Top |
SNVs in the skipped exons for COASY |
| - 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_152694 | 40714374 | 40715340 | 40715173 | 40715173 | Frame_Shift_Del | C | - | p.S178fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_152698 | 40714630 | 40715340 | 40715173 | 40715173 | Frame_Shift_Del | C | - | p.S178fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_152701 | 40714951 | 40715340 | 40715173 | 40715173 | Frame_Shift_Del | C | - | p.S178fs |
| UCEC | TCGA-D1-A163-01 | exon_skip_152694 | 40714374 | 40715340 | 40715173 | 40715173 | Frame_Shift_Del | C | - | p.S207fs |
| UCEC | TCGA-D1-A163-01 | exon_skip_152698 | 40714630 | 40715340 | 40715173 | 40715173 | Frame_Shift_Del | C | - | p.S207fs |
| UCEC | TCGA-D1-A163-01 | exon_skip_152701 | 40714951 | 40715340 | 40715173 | 40715173 | Frame_Shift_Del | C | - | p.S207fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_152709 | 40715979 | 40716193 | 40716115 | 40716115 | Frame_Shift_Del | C | - | p.D279fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_152709 | 40715979 | 40716193 | 40716115 | 40716115 | Frame_Shift_Del | C | - | p.D308fs |
| UCEC | TCGA-A5-A0VQ-01 | exon_skip_152709 | 40715979 | 40716193 | 40716158 | 40716158 | Frame_Shift_Del | G | - | p.G323fs |
| BRCA | TCGA-B6-A0IO-01 | exon_skip_152694 | 40714374 | 40715340 | 40714751 | 40714752 | Frame_Shift_Ins | - | T | p.Y66fs |
| BRCA | TCGA-B6-A0IO-01 | exon_skip_152698 | 40714630 | 40715340 | 40714751 | 40714752 | Frame_Shift_Ins | - | T | p.Y66fs |
| SKCM | TCGA-GN-A26A-06 | exon_skip_152690 exon_skip_152692 | 40714314 | 40714505 | 40714460 | 40714460 | Nonsense_Mutation | C | T | p.R11* |
| SKCM | TCGA-GN-A26A-06 | exon_skip_152690 exon_skip_152692 | 40714374 | 40714505 | 40714460 | 40714460 | Nonsense_Mutation | C | T | p.R11* |
| SKCM | TCGA-GN-A26A-06 | exon_skip_152694 | 40714374 | 40715340 | 40714460 | 40714460 | Nonsense_Mutation | C | T | p.R11* |
| - 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 |
| T84_LARGE_INTESTINE | 40715979 | 40716193 | 40716144 | 40716145 | Frame_Shift_Ins | - | G | p.E290fs |
| SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40714630 | 40715340 | 40715307 | 40715309 | In_Frame_Del | GTG | - | p.V224del |
| SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40714374 | 40715340 | 40715307 | 40715309 | In_Frame_Del | GTG | - | p.V224del |
| SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40714951 | 40715340 | 40715307 | 40715309 | In_Frame_Del | GTG | - | p.V224del |
| C80_LARGE_INTESTINE | 40714630 | 40715340 | 40714662 | 40714662 | Missense_Mutation | C | G | p.L8V |
| C80_LARGE_INTESTINE | 40714374 | 40715340 | 40714662 | 40714662 | Missense_Mutation | C | G | p.L8V |
| MZ7MEL_SKIN | 40714630 | 40715340 | 40714687 | 40714687 | Missense_Mutation | C | T | p.A16V |
| MZ7MEL_SKIN | 40714374 | 40715340 | 40714687 | 40714687 | Missense_Mutation | C | T | p.A16V |
| LS123_LARGE_INTESTINE | 40714630 | 40715340 | 40714720 | 40714720 | Missense_Mutation | C | T | p.T27I |
| LS123_LARGE_INTESTINE | 40714374 | 40715340 | 40714720 | 40714720 | Missense_Mutation | C | T | p.T27I |
| LNCAPCLONEFGC_PROSTATE | 40714630 | 40715340 | 40714829 | 40714829 | Missense_Mutation | G | T | p.E63D |
| LNCAPCLONEFGC_PROSTATE | 40714374 | 40715340 | 40714829 | 40714829 | Missense_Mutation | G | T | p.E63D |
| T98G_CENTRAL_NERVOUS_SYSTEM | 40714630 | 40715340 | 40714980 | 40714980 | Missense_Mutation | G | A | p.V114M |
| T98G_CENTRAL_NERVOUS_SYSTEM | 40714374 | 40715340 | 40714980 | 40714980 | Missense_Mutation | G | A | p.V114M |
| T98G_CENTRAL_NERVOUS_SYSTEM | 40714951 | 40715340 | 40714980 | 40714980 | Missense_Mutation | G | A | p.V114M |
| SNU1066_UPPER_AERODIGESTIVE_TRACT | 40714630 | 40715340 | 40715053 | 40715053 | Missense_Mutation | C | T | p.T138I |
| SNU1066_UPPER_AERODIGESTIVE_TRACT | 40714374 | 40715340 | 40715053 | 40715053 | Missense_Mutation | C | T | p.T138I |
| SNU1066_UPPER_AERODIGESTIVE_TRACT | 40714951 | 40715340 | 40715053 | 40715053 | Missense_Mutation | C | T | p.T138I |
| HMVII_SKIN | 40714630 | 40715340 | 40715127 | 40715127 | Missense_Mutation | G | A | p.V163M |
| HMVII_SKIN | 40714374 | 40715340 | 40715127 | 40715127 | Missense_Mutation | G | A | p.V163M |
| HMVII_SKIN | 40714951 | 40715340 | 40715127 | 40715127 | Missense_Mutation | G | A | p.V163M |
| SNU520_STOMACH | 40714630 | 40715340 | 40715137 | 40715137 | Missense_Mutation | T | A | p.L166Q |
| SNU520_STOMACH | 40714374 | 40715340 | 40715137 | 40715137 | Missense_Mutation | T | A | p.L166Q |
| SNU520_STOMACH | 40714951 | 40715340 | 40715137 | 40715137 | Missense_Mutation | T | A | p.L166Q |
| OSC19_UPPER_AERODIGESTIVE_TRACT | 40714630 | 40715340 | 40715173 | 40715173 | Missense_Mutation | C | T | p.S178F |
| OSC19_UPPER_AERODIGESTIVE_TRACT | 40714374 | 40715340 | 40715173 | 40715173 | Missense_Mutation | C | T | p.S178F |
| OSC19_UPPER_AERODIGESTIVE_TRACT | 40714951 | 40715340 | 40715173 | 40715173 | Missense_Mutation | C | T | p.S178F |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40714630 | 40715340 | 40715178 | 40715178 | Missense_Mutation | G | A | p.V180M |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40714374 | 40715340 | 40715178 | 40715178 | Missense_Mutation | G | A | p.V180M |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40714951 | 40715340 | 40715178 | 40715178 | Missense_Mutation | G | A | p.V180M |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40714630 | 40715340 | 40715332 | 40715332 | Missense_Mutation | T | C | p.L231P |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40714374 | 40715340 | 40715332 | 40715332 | Missense_Mutation | T | C | p.L231P |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40714951 | 40715340 | 40715332 | 40715332 | Missense_Mutation | T | C | p.L231P |
| HEC108_ENDOMETRIUM | 40715979 | 40716193 | 40716018 | 40716018 | Missense_Mutation | G | A | p.R247H |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40715979 | 40716193 | 40716018 | 40716018 | Missense_Mutation | G | A | p.R247H |
| SNU626_CENTRAL_NERVOUS_SYSTEM | 40715979 | 40716193 | 40716086 | 40716086 | Missense_Mutation | C | G | p.L270V |
| OCILY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40715979 | 40716193 | 40716143 | 40716143 | Missense_Mutation | G | A | p.E289K |
| NB1_AUTONOMIC_GANGLIA | 40715979 | 40716193 | 40716156 | 40716156 | Missense_Mutation | G | A | p.R293H |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40715979 | 40716193 | 40716167 | 40716167 | Missense_Mutation | G | A | p.A297T |
| HEC59_ENDOMETRIUM | 40715979 | 40716193 | 40716183 | 40716183 | Missense_Mutation | G | A | p.R302H |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40716727 | 40716916 | 40716740 | 40716740 | Missense_Mutation | T | C | p.L354P |
| T3M4_PANCREAS | 40716727 | 40716916 | 40716803 | 40716803 | Missense_Mutation | C | T | p.A375V |
| P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40716727 | 40716916 | 40716803 | 40716803 | Missense_Mutation | C | T | p.A375V |
| TGW_AUTONOMIC_GANGLIA | 40716727 | 40716916 | 40716803 | 40716803 | Missense_Mutation | C | T | p.A375V |
| 22RV1_PROSTATE | 40716727 | 40716916 | 40716838 | 40716838 | Missense_Mutation | G | T | p.D387Y |
| TGBC11TKB_STOMACH | 40716727 | 40716916 | 40716871 | 40716871 | Missense_Mutation | C | T | p.P398S |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COASY |
| 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 COASY |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COASY |
Top |
RelatedDrugs for COASY |
| 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 COASY |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| COASY | C3810230 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 | 1 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|