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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for PAFAH1B2 |
Gene summary |
Gene information | Gene symbol | PAFAH1B2 | Gene ID | 5049 |
Gene name | platelet activating factor acetylhydrolase 1b catalytic subunit 2 | |
Synonyms | HEL-S-303 | |
Cytomap | 11q23.3 | |
Type of gene | protein-coding | |
Description | platelet-activating factor acetylhydrolase IB subunit betaPAF acetylhydrolase 30 kDa subunitPAF-AH 30 kDa subunitPAF-AH subunit betaPAF-AH1b alpha 2 subunitPAFAH subunit betaepididymis secretory protein Li 303epididymis secretory sperm binding prot | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for PAFAH1B2 |
Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PAFAH1B2 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_229459 | chr11 | 117144382:117144418:117152441:117152528:117159934:117160023 | 117152441:117152528 |
exon_skip_23096 | chr11 | 117152447:117152528:117159934:117160023:117161145:117161261 | 117159934:117160023 |
exon_skip_258373 | chr11 | 117152441:117152528:117159934:117160023:117161145:117161261 | 117159934:117160023 |
exon_skip_265263 | chr11 | 117159934:117160023:117161145:117161261:117163770:117163874 | 117161145:117161261 |
exon_skip_277698 | chr11 | 117161145:117161261:117163770:117163892:117167421:117167992 | 117163770:117163892 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for PAFAH1B2 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000527958 | 117152441 | 117152528 | 5CDS-5UTR |
ENST00000527958 | 117159934 | 117160023 | In-frame |
ENST00000527958 | 117161145 | 117161261 | In-frame |
ENST00000527958 | 117163770 | 117163892 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000527958 | 117152441 | 117152528 | 5CDS-5UTR |
ENST00000527958 | 117159934 | 117160023 | In-frame |
ENST00000527958 | 117163770 | 117163892 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000527958 | 117152441 | 117152528 | 5CDS-5UTR |
ENST00000527958 | 117159934 | 117160023 | In-frame |
ENST00000527958 | 117161145 | 117161261 | In-frame |
ENST00000527958 | 117163770 | 117163892 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PAFAH1B2 |
p-ENSG00000168092_img4.png |
Loci of skipped exons in ROSMAP 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 |
ENST00000527958 | 4215 | 229 | 117159934 | 117160023 | 242 | 330 | 27 | 57 |
ENST00000527958 | 4215 | 229 | 117161145 | 117161261 | 332 | 447 | 57 | 96 |
ENST00000527958 | 4215 | 229 | 117163770 | 117163892 | 449 | 570 | 96 | 137 |
Loci of skipped exons in MSBB 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 |
ENST00000527958 | 4215 | 229 | 117159934 | 117160023 | 242 | 330 | 27 | 57 |
ENST00000527958 | 4215 | 229 | 117163770 | 117163892 | 449 | 570 | 96 | 137 |
Loci of skipped exons in Mayo 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 |
ENST00000527958 | 4215 | 229 | 117159934 | 117160023 | 242 | 330 | 27 | 57 |
ENST00000527958 | 4215 | 229 | 117161145 | 117161261 | 332 | 447 | 57 | 96 |
ENST00000527958 | 4215 | 229 | 117163770 | 117163892 | 449 | 570 | 96 | 137 |
Lost protein functional features of individual exon skipping events in ROSMAP. |
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 |
P68402 | 27 | 57 | 48 | 48 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P68402 | 27 | 57 | 41 | 47 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 27 | 57 | 2 | 229 | Chain | ID=PRO_0000058151;Note=Platelet-activating factor acetylhydrolase IB subunit beta |
P68402 | 27 | 57 | 23 | 37 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 27 | 57 | 48 | 53 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 27 | 57 | 57 | 62 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 57 | 96 | 68 | 72 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 57 | 96 | 96 | 101 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 57 | 96 | 2 | 229 | Chain | ID=PRO_0000058151;Note=Platelet-activating factor acetylhydrolase IB subunit beta |
P68402 | 57 | 96 | 57 | 62 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 57 | 96 | 64 | 66 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 57 | 96 | 78 | 86 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 57 | 96 | 64 | 64 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
P68402 | 57 | 96 | 87 | 90 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 96 | 137 | 133 | 229 | Alternative sequence | ID=VSP_043217;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18155631;Dbxref=PMID:18155631 |
P68402 | 96 | 137 | 96 | 101 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 96 | 137 | 133 | 137 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 96 | 137 | 2 | 229 | Chain | ID=PRO_0000058151;Note=Platelet-activating factor acetylhydrolase IB subunit beta |
P68402 | 96 | 137 | 111 | 128 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
Lost protein functional features of individual exon skipping events in MSBB. |
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 |
P68402 | 27 | 57 | 48 | 48 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P68402 | 27 | 57 | 41 | 47 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 27 | 57 | 2 | 229 | Chain | ID=PRO_0000058151;Note=Platelet-activating factor acetylhydrolase IB subunit beta |
P68402 | 27 | 57 | 23 | 37 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 27 | 57 | 48 | 53 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 27 | 57 | 57 | 62 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 96 | 137 | 133 | 229 | Alternative sequence | ID=VSP_043217;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18155631;Dbxref=PMID:18155631 |
P68402 | 96 | 137 | 96 | 101 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 96 | 137 | 133 | 137 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 96 | 137 | 2 | 229 | Chain | ID=PRO_0000058151;Note=Platelet-activating factor acetylhydrolase IB subunit beta |
P68402 | 96 | 137 | 111 | 128 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
Lost protein functional features of individual exon skipping events in Mayo. |
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 |
P68402 | 27 | 57 | 48 | 48 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P68402 | 27 | 57 | 41 | 47 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 27 | 57 | 2 | 229 | Chain | ID=PRO_0000058151;Note=Platelet-activating factor acetylhydrolase IB subunit beta |
P68402 | 27 | 57 | 23 | 37 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 27 | 57 | 48 | 53 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 27 | 57 | 57 | 62 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 57 | 96 | 68 | 72 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 57 | 96 | 96 | 101 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 57 | 96 | 2 | 229 | Chain | ID=PRO_0000058151;Note=Platelet-activating factor acetylhydrolase IB subunit beta |
P68402 | 57 | 96 | 57 | 62 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 57 | 96 | 64 | 66 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 57 | 96 | 78 | 86 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 57 | 96 | 64 | 64 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
P68402 | 57 | 96 | 87 | 90 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 96 | 137 | 133 | 229 | Alternative sequence | ID=VSP_043217;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18155631;Dbxref=PMID:18155631 |
P68402 | 96 | 137 | 96 | 101 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 96 | 137 | 133 | 137 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
P68402 | 96 | 137 | 2 | 229 | Chain | ID=PRO_0000058151;Note=Platelet-activating factor acetylhydrolase IB subunit beta |
P68402 | 96 | 137 | 111 | 128 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1VYH |
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3'-UTR located exon skipping events that lost miRNA binding sites in PAFAH1B2 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for PAFAH1B2 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- 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 |
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AD stage-associated exon skippint events for PAFAH1B2 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PAFAH1B2 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for PAFAH1B2 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for PAFAH1B2 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PAFAH1B2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |