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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 FIG4 |
Gene summary |
Gene information | Gene symbol | FIG4 | Gene ID | 9896 |
Gene name | FIG4 phosphoinositide 5-phosphatase | |
Synonyms | ALS11|BTOP|CMT4J|KIAA0274|SAC3|YVS|dJ249I4.1 | |
Cytomap | 6q21 | |
Type of gene | protein-coding | |
Description | polyphosphoinositide phosphataseFIG4 homolog, SAC domain containing lipid phosphataseFIG4 homolog, SAC1 domain containing lipid phosphataseFIG4 homolog, SAC1 lipid phosphatase domain containingSAC domain-containing protein 3Sac domain-containing inos | |
Modification date | 20200328 | |
UniProtAcc | ||
Context | - 26862204(The Amyloid Precursor Protein (APP) Binds the PIKfyve Complex and Modulates Its Function) |
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 FIG4 |
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 FIG4 |
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_20164 | chr6 | 109727109:109727265:109732637:109732687:109735150:109735298 | 109732637:109732687 |
exon_skip_214258 | chr6 | 109766729:109766895:109776922:109777060:109784970:109785028 | 109776922:109777060 |
exon_skip_241830 | chr6 | 109792582:109792664:109796765:109796851:109825088:109825428 | 109796765:109796851 |
exon_skip_248370 | chr6 | 109715078:109715176:109716445:109716568:109727109:109727265 | 109716445:109716568 |
exon_skip_285337 | chr6 | 109735150:109735298:109738325:109738453:109741444:109741544 | 109738325:109738453 |
exon_skip_4063 | chr6 | 109743675:109743772:109760250:109760383:109762091:109762207 | 109760250:109760383 |
exon_skip_43651 | chr6 | 109792639:109792664:109796765:109796851:109825088:109825428 | 109796765:109796851 |
exon_skip_53598 | chr6 | 109776922:109777060:109784970:109785028:109786302:109786449 | 109784970:109785028 |
exon_skip_87212 | chr6 | 109716506:109716568:109727109:109727265:109732637:109732687 | 109727109:109727265 |
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 FIG4 |
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 |
ENST00000230124 | 109716445 | 109716568 | Frame-shift |
ENST00000230124 | 109727109 | 109727265 | Frame-shift |
ENST00000230124 | 109760250 | 109760383 | Frame-shift |
ENST00000230124 | 109776922 | 109777060 | Frame-shift |
ENST00000230124 | 109796765 | 109796851 | 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 |
ENST00000230124 | 109716445 | 109716568 | Frame-shift |
ENST00000230124 | 109727109 | 109727265 | Frame-shift |
ENST00000230124 | 109760250 | 109760383 | Frame-shift |
ENST00000230124 | 109738325 | 109738453 | In-frame |
ENST00000230124 | 109796765 | 109796851 | 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 |
ENST00000230124 | 109716445 | 109716568 | Frame-shift |
ENST00000230124 | 109727109 | 109727265 | Frame-shift |
ENST00000230124 | 109760250 | 109760383 | Frame-shift |
ENST00000230124 | 109776922 | 109777060 | Frame-shift |
ENST00000230124 | 109784970 | 109785028 | Frame-shift |
ENST00000230124 | 109732637 | 109732687 | In-frame |
ENST00000230124 | 109738325 | 109738453 | In-frame |
ENST00000230124 | 109796765 | 109796851 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FIG4 |
p-ENSG00000112367_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 |
ENST00000230124 | 3028 | 907 | 109796765 | 109796851 | 2585 | 2670 | 820 | 848 |
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 |
ENST00000230124 | 3028 | 907 | 109738325 | 109738453 | 772 | 899 | 216 | 258 |
ENST00000230124 | 3028 | 907 | 109796765 | 109796851 | 2585 | 2670 | 820 | 848 |
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 |
ENST00000230124 | 3028 | 907 | 109732637 | 109732687 | 572 | 621 | 149 | 165 |
ENST00000230124 | 3028 | 907 | 109738325 | 109738453 | 772 | 899 | 216 | 258 |
ENST00000230124 | 3028 | 907 | 109796765 | 109796851 | 2585 | 2670 | 820 | 848 |
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 |
Q92562 | 820 | 848 | 1 | 907 | Chain | ID=PRO_0000209743;Note=Polyphosphoinositide phosphatase |
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 |
Q92562 | 216 | 258 | 1 | 907 | Chain | ID=PRO_0000209743;Note=Polyphosphoinositide phosphatase |
Q92562 | 216 | 258 | 154 | 547 | Domain | Note=SAC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00183 |
Q92562 | 820 | 848 | 1 | 907 | Chain | ID=PRO_0000209743;Note=Polyphosphoinositide phosphatase |
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 |
Q92562 | 149 | 165 | 1 | 907 | Chain | ID=PRO_0000209743;Note=Polyphosphoinositide phosphatase |
Q92562 | 149 | 165 | 154 | 547 | Domain | Note=SAC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00183 |
Q92562 | 216 | 258 | 1 | 907 | Chain | ID=PRO_0000209743;Note=Polyphosphoinositide phosphatase |
Q92562 | 216 | 258 | 154 | 547 | Domain | Note=SAC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00183 |
Q92562 | 820 | 848 | 1 | 907 | Chain | ID=PRO_0000209743;Note=Polyphosphoinositide phosphatase |
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3'-UTR located exon skipping events that lost miRNA binding sites in FIG4 |
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 FIG4 |
- 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 FIG4 |
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 FIG4 |
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 FIG4 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for FIG4 |
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 FIG4 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |