|
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | 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 PEX11A |
Gene summary |
| Gene information | Gene symbol | PEX11A | Gene ID | 8800 |
| Gene name | peroxisomal biogenesis factor 11 alpha | |
| Synonyms | PEX11-ALPHA|PMP28|hsPEX11p | |
| Cytomap | 15q26.1 | |
| Type of gene | protein-coding | |
| Description | peroxisomal membrane protein 11A28 kDa peroxisomal integral membrane proteinperoxin-11Aperoxisomal biogenesis factor 11Aprotein PEX11 homolog alpha | |
| Modification date | 20180523 | |
| UniProtAcc | O75192 | |
| Context | PubMed: PEX11A [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 |
| PEX11A | GO:0016559 | peroxisome fission | 20826455 |
| PEX11A | GO:0044375 | regulation of peroxisome size | 20826455 |
Top |
Exon skipping events across known transcript of Ensembl for PEX11A 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 PEX11A |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for PEX11A |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_130838 | 15 | 90224535:90224771:90229661:90229777:90233807:90233893 | 90229661:90229777 | ENSG00000166821.4 | ENST00000561224.1 |
| exon_skip_130839 | 15 | 90226310:90227086:90229661:90229777:90233807:90233893 | 90229661:90229777 | ENSG00000166821.4 | ENST00000561257.1 |
| exon_skip_130840 | 15 | 90226481:90227179:90229661:90229777:90233807:90233893 | 90229661:90229777 | ENSG00000166821.4 | ENST00000300056.3 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for PEX11A |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_130838 | 15 | 90224535:90224771:90229661:90229777:90233807:90233893 | 90229661:90229777 | ENSG00000166821.4 | ENST00000561224.1 |
| exon_skip_130839 | 15 | 90226310:90227086:90229661:90229777:90233807:90233893 | 90229661:90229777 | ENSG00000166821.4 | ENST00000561257.1 |
| exon_skip_130840 | 15 | 90226481:90227179:90229661:90229777:90233807:90233893 | 90229661:90229777 | ENSG00000166821.4 | ENST00000300056.3 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PEX11A |
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 |
| ENST00000300056 | 90229661 | 90229777 | 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 |
| ENST00000300056 | 90229661 | 90229777 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for PEX11A |
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 PEX11A |
- 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 |
| HNSC | TCGA-CN-4729-01 | exon_skip_130839 exon_skip_130840 exon_skip_130838 | 90229662 | 90229777 | 90229778 | 90229778 | Splice_Site | C | G | p.R19_splice |
- 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PEX11A |
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 PEX11A |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PEX11A |
Top |
RelatedDrugs for PEX11A |
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 PEX11A |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PEX11A | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |