|
||||||
|
 | |
| |
| |
| |
| 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 ACSM5 |
 Gene summary |
| Gene information | Gene symbol | ACSM5 | Gene ID | 54988 |
| Gene name | acyl-CoA synthetase medium chain family member 5 | |
| Synonyms | - | |
| Cytomap | 16p12.3 | |
| Type of gene | protein-coding | |
| Description | acyl-coenzyme A synthetase ACSM5, mitochondrial | |
| Modification date | 20180523 | |
| UniProtAcc | Q6NUN0 | |
| Context | PubMed: ACSM5 [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 ACSM5 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 ACSM5 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for ACSM5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_134218 | 16 | 20430549:20430757:20432579:20432723:20435237:20435391 | 20432579:20432723 | ENSG00000183549.6 | ENST00000331849.4 |
| exon_skip_134220 | 16 | 20432595:20432723:20435237:20435391:20439109:20439189 | 20435237:20435391 | ENSG00000183549.6 | ENST00000570305.1,ENST00000331849.4 |
| exon_skip_134222 | 16 | 20435237:20435391:20439109:20439189:20440999:20441123 | 20439109:20439189 | ENSG00000183549.6 | ENST00000570305.1,ENST00000331849.4 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for ACSM5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_134218 | 16 | 20430549:20430757:20432579:20432723:20435237:20435391 | 20432579:20432723 | ENSG00000183549.6 | ENST00000331849.4 |
| exon_skip_134220 | 16 | 20432595:20432723:20435237:20435391:20439109:20439189 | 20435237:20435391 | ENSG00000183549.6 | ENST00000331849.4,ENST00000570305.1 |
| exon_skip_134222 | 16 | 20435237:20435391:20439109:20439189:20440999:20441123 | 20439109:20439189 | ENSG00000183549.6 | ENST00000331849.4,ENST00000570305.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ACSM5 |
| 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 |
| ENST00000331849 | 20435237 | 20435391 | Frame-shift |
| ENST00000331849 | 20439109 | 20439189 | Frame-shift |
| ENST00000331849 | 20432579 | 20432723 | 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 |
| ENST00000331849 | 20435237 | 20435391 | Frame-shift |
| ENST00000331849 | 20439109 | 20439189 | Frame-shift |
| ENST00000331849 | 20432579 | 20432723 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ACSM5 |
| 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 |
| ENST00000331849 | 2813 | 579 | 20432579 | 20432723 | 771 | 914 | 208 | 255 |
| 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 |
| ENST00000331849 | 2813 | 579 | 20432579 | 20432723 | 771 | 914 | 208 | 255 |
| 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 |
| Q6NUN0 | 208 | 255 | 209 | 579 | Alternative sequence | ID=VSP_028398;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q6NUN0 | 208 | 255 | 27 | 579 | Chain | ID=PRO_0000306101;Note=Acyl-coenzyme A synthetase ACSM5%2C mitochondrial |
| Q6NUN0 | 208 | 255 | 217 | 217 | Natural variant | ID=VAR_061011;Note=M->V;Dbxref=dbSNP:rs59025904 |
| Q6NUN0 | 208 | 255 | 230 | 238 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q6NUN0 | 208 | 255 | 231 | 234 | Sequence conflict | Note=SGTT->KREPP;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 |
| Q6NUN0 | 208 | 255 | 209 | 579 | Alternative sequence | ID=VSP_028398;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q6NUN0 | 208 | 255 | 27 | 579 | Chain | ID=PRO_0000306101;Note=Acyl-coenzyme A synthetase ACSM5%2C mitochondrial |
| Q6NUN0 | 208 | 255 | 217 | 217 | Natural variant | ID=VAR_061011;Note=M->V;Dbxref=dbSNP:rs59025904 |
| Q6NUN0 | 208 | 255 | 230 | 238 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q6NUN0 | 208 | 255 | 231 | 234 | Sequence conflict | Note=SGTT->KREPP;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Top |
SNVs in the skipped exons for ACSM5 |
| - 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 |
| UCEC | TCGA-D1-A17H-01 | exon_skip_134218 | 20432580 | 20432723 | 20432663 | 20432663 | Frame_Shift_Del | C | - | p.A236fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_134220 | 20435238 | 20435391 | 20435243 | 20435243 | Frame_Shift_Del | G | - | p.W258fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_134220 | 20435238 | 20435391 | 20435345 | 20435345 | Frame_Shift_Del | T | - | p.I292fs |
| LIHC | TCGA-CC-A7IH-01 | exon_skip_134218 | 20432580 | 20432723 | 20432662 | 20432663 | Frame_Shift_Ins | - | C | p.A236fs |
| LIHC | TCGA-CC-A7IH-01 | exon_skip_134218 | 20432580 | 20432723 | 20432662 | 20432663 | Frame_Shift_Ins | - | C | p.P236fs |
| KIRC | TCGA-CZ-5985-01 | exon_skip_134220 | 20435238 | 20435391 | 20435331 | 20435332 | Frame_Shift_Ins | - | A | p.P287fs |
| KIRC | TCGA-CZ-5985-01 | exon_skip_134220 | 20435238 | 20435391 | 20435331 | 20435332 | Frame_Shift_Ins | - | A | p.W288fs |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_134218 | 20432580 | 20432723 | 20432620 | 20432620 | Nonsense_Mutation | C | T | p.R222* |
| HNSC | TCGA-CR-7374-01 | exon_skip_134222 | 20439110 | 20439189 | 20439173 | 20439173 | Nonsense_Mutation | C | T | p.Q329* |
| - 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 |
| KU812_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20432580 | 20432723 | 20432619 | 20432619 | Frame_Shift_Del | T | - | p.S221fs |
| 786O_KIDNEY | 20432580 | 20432723 | 20432694 | 20432694 | Missense_Mutation | C | G | p.S246R |
| MCC13_SKIN | 20435238 | 20435391 | 20435255 | 20435255 | Missense_Mutation | C | T | p.T262I |
| EW8_BONE | 20435238 | 20435391 | 20435308 | 20435308 | Missense_Mutation | T | C | p.W280R |
| HCC2998_LARGE_INTESTINE | 20435238 | 20435391 | 20435319 | 20435319 | Missense_Mutation | C | A | p.F283L |
| GP2D_LARGE_INTESTINE | 20435238 | 20435391 | 20435353 | 20435353 | Missense_Mutation | C | T | p.H295Y |
| GP5D_LARGE_INTESTINE | 20435238 | 20435391 | 20435353 | 20435353 | Missense_Mutation | C | T | p.H295Y |
| KYSE220_OESOPHAGUS | 20435238 | 20435391 | 20435357 | 20435357 | Missense_Mutation | A | G | p.E296G |
| SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20435238 | 20435391 | 20435381 | 20435381 | Missense_Mutation | T | A | p.V304D |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20439110 | 20439189 | 20439120 | 20439120 | Missense_Mutation | A | C | p.K311T |
| SNUC2A_LARGE_INTESTINE | 20439110 | 20439189 | 20439126 | 20439126 | Missense_Mutation | C | T | p.P313L |
| SNUC2B_LARGE_INTESTINE | 20439110 | 20439189 | 20439126 | 20439126 | Missense_Mutation | C | T | p.P313L |
| TGBC11TKB_STOMACH | 20439110 | 20439189 | 20439178 | 20439178 | Missense_Mutation | G | T | p.E330D |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACSM5 |
| 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_134220 | 16 | 20432595:20432723:20435237:20435391:20439109:20439189 | 20435237:20435391 | ENST00000570305.1,ENST00000331849.4 | PCPG | rs12103211 | chr16:20435262 | G/T | 9.34e-04 |
| exon_skip_134220 | 16 | 20432595:20432723:20435237:20435391:20439109:20439189 | 20435237:20435391 | ENST00000570305.1,ENST00000331849.4 | THCA | rs12103211 | chr16:20435262 | G/T | 8.14e-06 |
| exon_skip_134220 | 16 | 20432595:20432723:20435237:20435391:20439109:20439189 | 20435237:20435391 | ENST00000570305.1,ENST00000331849.4 | THCA | rs12103211 | chr16:20435262 | G/T | 3.02e-05 |
| exon_skip_134218 | 16 | 20430549:20430757:20432579:20432723:20435237:20435391 | 20432579:20432723 | ENST00000331849.4 | KIRP | rs59025904 | chr16:20432605 | A/G | 7.76e-04 |
| exon_skip_134218 | 16 | 20430549:20430757:20432579:20432723:20435237:20435391 | 20432579:20432723 | ENST00000331849.4 | KIRP | rs59025904 | chr16:20432605 | A/G | 1.50e-03 |
| exon_skip_134218 | 16 | 20430549:20430757:20432579:20432723:20435237:20435391 | 20432579:20432723 | ENST00000331849.4 | PCPG | rs59025904 | chr16:20432605 | A/G | 5.20e-04 |
| exon_skip_134218 | 16 | 20430549:20430757:20432579:20432723:20435237:20435391 | 20432579:20432723 | ENST00000331849.4 | THCA | rs59025904 | chr16:20432605 | A/G | 1.91e-06 |
| exon_skip_134218 | 16 | 20430549:20430757:20432579:20432723:20435237:20435391 | 20432579:20432723 | ENST00000331849.4 | THCA | rs59025904 | chr16:20432605 | A/G | 8.71e-06 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACSM5 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACSM5 |
Top |
RelatedDrugs for ACSM5 |
| 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 ACSM5 |
| 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)
|