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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for ISYNA1 |
 Gene summary |
| Gene information | Gene symbol | ISYNA1 | Gene ID | 51477 |
| Gene name | inositol-3-phosphate synthase 1 | |
| Synonyms | INO1|INOS|IPS|IPS 1|IPS-1 | |
| Cytomap | 19p13.11 | |
| Type of gene | protein-coding | |
| Description | inositol-3-phosphate synthase 1MI-1-P synthaseMIP synthasemyo-inositol 1-phosphate synthase A1testis secretory sperm-binding protein Li 200a | |
| Modification date | 20200320 | |
| 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 ISYNA1 |
| 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. |
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ENSG00000105655
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PCC | UP | ENST00000578963.5 | ISYNA1-206:protein_coding:ISYNA1 | 2.438936e+01 | 1.212792e+00 | 3.416562e-05 | 2.975397e-03 |
| STG | UP | ENST00000577916.6 | ISYNA1-204:retained_intron:ISYNA1 | 2.548516e+01 | 1.035481e+00 | 1.522589e-03 | 4.749980e-02 |
| PG | UP | ENST00000577916.6 | ISYNA1-204:retained_intron:ISYNA1 | 2.191043e+01 | 1.005066e+00 | 1.417843e-05 | 6.519038e-04 |
| TC | UP | ENST00000583534.1 | ISYNA1-213:protein_coding:ISYNA1 | 2.862382e+00 | 1.061296e+00 | 6.025000e-04 | 6.658966e-03 |
| TC | UP | ENST00000577820.5 | ISYNA1-203:nonsense_mediated_decay:ISYNA1 | 3.063107e+01 | 1.141324e+00 | 2.437322e-03 | 1.949475e-02 |
| TC | DOWN | ENST00000582811.6 | ISYNA1-211:nonsense_mediated_decay:ISYNA1 | 5.570893e+00 | -2.759138e+00 | 2.864001e-03 | 2.200774e-02 |
| 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 ISYNA1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_128769 | chr19 | 18434861:18435117:18435266:18435483:18435563:18435664 | 18435266:18435483 |
| exon_skip_156219 | chr19 | 18436381:18436479:18436684:18436877:18436973:18437105 | 18436684:18436877 |
| exon_skip_167388 | chr19 | 18436381:18436479:18436973:18437105:18437599:18437760 | 18436973:18437105 |
| exon_skip_18348 | chr19 | 18436330:18436479:18436973:18437105:18437599:18437715 | 18436973:18437105 |
| exon_skip_185663 | chr19 | 18436330:18436479:18437599:18437760:18437860:18437988 | 18437599:18437760 |
| exon_skip_23117 | chr19 | 18436973:18437105:18437599:18437760:18437860:18437988 | 18437599:18437760 |
| exon_skip_238768 | chr19 | 18436330:18436479:18436684:18436877:18436973:18437105 | 18436684:18436877 |
| exon_skip_259958 | chr19 | 18436847:18436877:18436973:18437105:18437599:18437760 | 18436973:18437105 |
| exon_skip_283631 | chr19 | 18436847:18436877:18436973:18437105:18437860:18437988 | 18436973:18437105 |
| exon_skip_34956 | chr19 | 18434861:18435117:18435248:18435483:18435563:18435664 | 18435248:18435483 |
| exon_skip_54293 | chr19 | 18436330:18436479:18436684:18436877:18437860:18437988 | 18436684:18436877 |
| exon_skip_57005 | chr19 | 18436330:18436479:18436973:18437105:18437599:18437760 | 18436973:18437105 |
| 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 ISYNA1 |
| 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 |
| ENST00000338128 | 18435266 | 18435483 | Frame-shift |
| ENST00000338128 | 18436684 | 18436877 | Frame-shift |
| ENST00000338128 | 18436973 | 18437105 | Frame-shift |
| ENST00000338128 | 18437599 | 18437760 | 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 |
| ENST00000338128 | 18437599 | 18437760 | 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 |
| ENST00000338128 | 18436684 | 18436877 | Frame-shift |
| ENST00000338128 | 18436973 | 18437105 | Frame-shift |
| ENST00000338128 | 18437599 | 18437760 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ISYNA1 |
p-ENSG00000105655_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 |
| ENST00000338128 | 2437 | 558 | 18437599 | 18437760 | 339 | 499 | 40 | 93 |
| 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 |
| ENST00000338128 | 2437 | 558 | 18437599 | 18437760 | 339 | 499 | 40 | 93 |
| 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 |
| ENST00000338128 | 2437 | 558 | 18437599 | 18437760 | 339 | 499 | 40 | 93 |
| 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 |
| Q9NPH2 | 40 | 93 | 1 | 128 | Alternative sequence | ID=VSP_032324;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9NPH2 | 40 | 93 | 40 | 93 | Alternative sequence | ID=VSP_046065;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9NPH2 | 40 | 93 | 1 | 558 | Chain | ID=PRO_0000324628;Note=Inositol-3-phosphate synthase 1 |
| Q9NPH2 | 40 | 93 | 57 | 57 | Sequence conflict | Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NPH2 | 40 | 93 | 82 | 82 | Sequence conflict | Note=R->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NPH2 | 40 | 93 | 91 | 91 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9NPH2 | 40 | 93 | 1 | 128 | Alternative sequence | ID=VSP_032324;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9NPH2 | 40 | 93 | 40 | 93 | Alternative sequence | ID=VSP_046065;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9NPH2 | 40 | 93 | 1 | 558 | Chain | ID=PRO_0000324628;Note=Inositol-3-phosphate synthase 1 |
| Q9NPH2 | 40 | 93 | 57 | 57 | Sequence conflict | Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NPH2 | 40 | 93 | 82 | 82 | Sequence conflict | Note=R->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NPH2 | 40 | 93 | 91 | 91 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9NPH2 | 40 | 93 | 1 | 128 | Alternative sequence | ID=VSP_032324;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9NPH2 | 40 | 93 | 40 | 93 | Alternative sequence | ID=VSP_046065;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9NPH2 | 40 | 93 | 1 | 558 | Chain | ID=PRO_0000324628;Note=Inositol-3-phosphate synthase 1 |
| Q9NPH2 | 40 | 93 | 57 | 57 | Sequence conflict | Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NPH2 | 40 | 93 | 82 | 82 | Sequence conflict | Note=R->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NPH2 | 40 | 93 | 91 | 91 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ISYNA1 |
| 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 ISYNA1 |
| - 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 ISYNA1 |
| 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 ISYNA1 |
| 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 ISYNA1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ISYNA1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q9NPH2 | approved|investigational | DB09462 | Glycerin | small molecule | Q9NPH2 |
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RelatedDiseases for ISYNA1 |
| 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)
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