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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 UAP1 |
Gene summary |
Gene information | Gene symbol | UAP1 | Gene ID | 6675 |
Gene name | UDP-N-acetylglucosamine pyrophosphorylase 1 | |
Synonyms | AGX|AGX1|AGX2|SPAG2 | |
Cytomap | 1q23.3 | |
Type of gene | protein-coding | |
Description | UDP-N-acetylhexosamine pyrophosphorylaseUDP-N-acetylglucosamine diphosphorylase 1UDP-N-acetylhexosamine pyrophosphorylase 1antigen Xsperm associated antigen 2testis tissue sperm-binding protein Li 37a | |
Modification date | 20200313 | |
UniProtAcc | Q16222, | |
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 UAP1 |
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 |
CB | DOWN | ENST00000486089.1 | UAP1-207:retained_intron:UAP1 | 8.372590e+01 | -1.469783e+00 | 2.649760e-15 | 1.243305e-12 |
TC | UP | ENST00000367925.5 | UAP1-203:protein_coding:UAP1 | 1.412176e+02 | 8.089535e-01 | 4.246967e-06 | 1.307511e-04 |
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 UAP1 |
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_116448 | chr1 | 162587475:162587668:162588693:162588833:162590323:162590511 | 162588693:162588833 |
exon_skip_127698 | chr1 | 162590327:162590511:162592735:162592782:162597792:162597858 | 162592735:162592782 |
exon_skip_148073 | chr1 | 162590323:162590511:162592732:162592782:162597792:162597858 | 162592732:162592782 |
exon_skip_205338 | chr1 | 162590323:162590511:162592735:162592782:162597792:162597858 | 162592735:162592782 |
exon_skip_208744 | chr1 | 162561722:162561777:162566012:162566348:162576777:162576981 | 162566012:162566348 |
exon_skip_262881 | chr1 | 162590327:162590511:162592732:162592782:162597792:162597858 | 162592732:162592782 |
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 UAP1 |
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 |
ENST00000271469 | 162588693 | 162588833 | In-frame |
ENST00000367925 | 162588693 | 162588833 | In-frame |
ENST00000271469 | 162592732 | 162592782 | In-frame |
ENST00000367925 | 162592732 | 162592782 | 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 |
ENST00000271469 | 162592732 | 162592782 | In-frame |
ENST00000367925 | 162592732 | 162592782 | 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 |
ENST00000271469 | 162592732 | 162592782 | In-frame |
ENST00000367925 | 162592732 | 162592782 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UAP1 |
p-ENSG00000117143_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 |
ENST00000271469 | 2394 | 522 | 162588693 | 162588833 | 1359 | 1498 | 343 | 389 |
ENST00000367925 | 2086 | 522 | 162588693 | 162588833 | 1062 | 1201 | 343 | 389 |
ENST00000271469 | 2394 | 522 | 162592732 | 162592782 | 1689 | 1738 | 453 | 469 |
ENST00000367925 | 2086 | 522 | 162592732 | 162592782 | 1392 | 1441 | 453 | 469 |
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 |
ENST00000271469 | 2394 | 522 | 162592732 | 162592782 | 1689 | 1738 | 453 | 469 |
ENST00000367925 | 2086 | 522 | 162592732 | 162592782 | 1392 | 1441 | 453 | 469 |
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 |
ENST00000271469 | 2394 | 522 | 162592732 | 162592782 | 1689 | 1738 | 453 | 469 |
ENST00000367925 | 2086 | 522 | 162592732 | 162592782 | 1392 | 1441 | 453 | 469 |
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 |
Q16222 | 343 | 389 | 352 | 356 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JV1 |
Q16222 | 343 | 389 | 352 | 356 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JV1 |
Q16222 | 343 | 389 | 375 | 379 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JV1 |
Q16222 | 343 | 389 | 375 | 379 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JV1 |
Q16222 | 343 | 389 | 377 | 377 | Binding site | Note=UTP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9M9P3 |
Q16222 | 343 | 389 | 377 | 377 | Binding site | Note=UTP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9M9P3 |
Q16222 | 343 | 389 | 1 | 522 | Chain | ID=PRO_0000185767;Note=UDP-N-acetylhexosamine pyrophosphorylase |
Q16222 | 343 | 389 | 1 | 522 | Chain | ID=PRO_0000185767;Note=UDP-N-acetylhexosamine pyrophosphorylase |
Q16222 | 343 | 389 | 335 | 343 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JV1 |
Q16222 | 343 | 389 | 335 | 343 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JV1 |
Q16222 | 343 | 389 | 346 | 348 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JV1 |
Q16222 | 343 | 389 | 346 | 348 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JV1 |
Q16222 | 343 | 389 | 382 | 388 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JV1 |
Q16222 | 343 | 389 | 382 | 388 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JV1 |
Q16222 | 453 | 469 | 454 | 470 | Alternative sequence | ID=VSP_004483;Note=In isoform AGX1. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8025165,ECO:0000303|PubMed:9603950;Dbxref=PMID:14702039,PMID:1548 |
Q16222 | 453 | 469 | 454 | 470 | Alternative sequence | ID=VSP_004483;Note=In isoform AGX1. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8025165,ECO:0000303|PubMed:9603950;Dbxref=PMID:14702039,PMID:1548 |
Q16222 | 453 | 469 | 454 | 454 | Alternative sequence | ID=VSP_014523;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8025165;Dbxref=PMID:8025165 |
Q16222 | 453 | 469 | 454 | 454 | Alternative sequence | ID=VSP_014523;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8025165;Dbxref=PMID:8025165 |
Q16222 | 453 | 469 | 1 | 522 | Chain | ID=PRO_0000185767;Note=UDP-N-acetylhexosamine pyrophosphorylase |
Q16222 | 453 | 469 | 1 | 522 | Chain | ID=PRO_0000185767;Note=UDP-N-acetylhexosamine pyrophosphorylase |
Q16222 | 453 | 469 | 454 | 454 | Sequence conflict | Note=S->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q16222 | 453 | 469 | 454 | 454 | Sequence conflict | Note=S->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q16222 | 453 | 469 | 454 | 454 | Sequence conflict | Note=S->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q16222 | 453 | 469 | 454 | 454 | Sequence conflict | Note=S->Q;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 |
Q16222 | 453 | 469 | 454 | 470 | Alternative sequence | ID=VSP_004483;Note=In isoform AGX1. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8025165,ECO:0000303|PubMed:9603950;Dbxref=PMID:14702039,PMID:1548 |
Q16222 | 453 | 469 | 454 | 470 | Alternative sequence | ID=VSP_004483;Note=In isoform AGX1. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8025165,ECO:0000303|PubMed:9603950;Dbxref=PMID:14702039,PMID:1548 |
Q16222 | 453 | 469 | 454 | 454 | Alternative sequence | ID=VSP_014523;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8025165;Dbxref=PMID:8025165 |
Q16222 | 453 | 469 | 454 | 454 | Alternative sequence | ID=VSP_014523;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8025165;Dbxref=PMID:8025165 |
Q16222 | 453 | 469 | 1 | 522 | Chain | ID=PRO_0000185767;Note=UDP-N-acetylhexosamine pyrophosphorylase |
Q16222 | 453 | 469 | 1 | 522 | Chain | ID=PRO_0000185767;Note=UDP-N-acetylhexosamine pyrophosphorylase |
Q16222 | 453 | 469 | 454 | 454 | Sequence conflict | Note=S->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q16222 | 453 | 469 | 454 | 454 | Sequence conflict | Note=S->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q16222 | 453 | 469 | 454 | 454 | Sequence conflict | Note=S->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q16222 | 453 | 469 | 454 | 454 | Sequence conflict | Note=S->Q;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 |
Q16222 | 453 | 469 | 454 | 470 | Alternative sequence | ID=VSP_004483;Note=In isoform AGX1. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8025165,ECO:0000303|PubMed:9603950;Dbxref=PMID:14702039,PMID:1548 |
Q16222 | 453 | 469 | 454 | 470 | Alternative sequence | ID=VSP_004483;Note=In isoform AGX1. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8025165,ECO:0000303|PubMed:9603950;Dbxref=PMID:14702039,PMID:1548 |
Q16222 | 453 | 469 | 454 | 454 | Alternative sequence | ID=VSP_014523;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8025165;Dbxref=PMID:8025165 |
Q16222 | 453 | 469 | 454 | 454 | Alternative sequence | ID=VSP_014523;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8025165;Dbxref=PMID:8025165 |
Q16222 | 453 | 469 | 1 | 522 | Chain | ID=PRO_0000185767;Note=UDP-N-acetylhexosamine pyrophosphorylase |
Q16222 | 453 | 469 | 1 | 522 | Chain | ID=PRO_0000185767;Note=UDP-N-acetylhexosamine pyrophosphorylase |
Q16222 | 453 | 469 | 454 | 454 | Sequence conflict | Note=S->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q16222 | 453 | 469 | 454 | 454 | Sequence conflict | Note=S->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q16222 | 453 | 469 | 454 | 454 | Sequence conflict | Note=S->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q16222 | 453 | 469 | 454 | 454 | Sequence conflict | Note=S->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in UAP1 |
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 UAP1 |
- 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 UAP1 |
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 UAP1 |
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 UAP1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
TC | NOVA1 | exon_skip_148073 | -4.827491e-01 | 1.014909e-10 |
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RelatedDrugs for UAP1 |
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 UAP1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |