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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 HNRNPU |
 Gene summary |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| HNRNPU | GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | 22325991 |
| HNRNPU | GO:0048255 | mRNA stabilization | 17174306 |
| HNRNPU | GO:0071385 | cellular response to glucocorticoid stimulus | 9353307 |
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Gene structures and expression levels for HNRNPU |
| 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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ENSG00000153187
| 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 |
| DLPFC | UP | ENST00000639628.1 | HNRNPU-219:protein_coding:HNRNPU | 1.854811e+01 | 6.073605e+00 | 4.850138e-07 | 1.554556e-04 |
| STG | UP | ENST00000640056.1 | HNRNPU-224:nonsense_mediated_decay:HNRNPU | 1.294736e+02 | 2.287528e+00 | 2.642279e-05 | 5.066594e-03 |
| CB | DOWN | ENST00000444376.7 | HNRNPU-205:protein_coding:HNRNPU | 8.146840e+02 | -1.155875e+00 | 5.565395e-07 | 9.113125e-06 |
| CB | UP | ENST00000638230.1 | HNRNPU-212:nonsense_mediated_decay:HNRNPU | 4.122596e+00 | 1.495986e+00 | 1.458352e-03 | 7.092269e-03 |
| 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 HNRNPU |
| 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_129355 | chr1 | 244846625:244846706:244847002:244847101:244848788:244848856 | 244847002:244847101 |
| exon_skip_130721 | chr1 | 244846604:244846706:244847002:244847101:244848788:244848856 | 244847002:244847101 |
| exon_skip_167018 | chr1 | 244862461:244862534:244862619:244862730:244863674:244863761 | 244862619:244862730 |
| exon_skip_182757 | chr1 | 244853982:244854503:244854973:244855044:244855424:244855608 | 244854973:244855044 |
| exon_skip_190329 | chr1 | 244862461:244862534:244862619:244862730:244863674:244864007 | 244862619:244862730 |
| exon_skip_203081 | chr1 | 244846625:244846706:244847002:244847053:244848788:244848856 | 244847002:244847053 |
| exon_skip_211026 | chr1 | 244854382:244854503:244854973:244855044:244855424:244855455 | 244854973:244855044 |
| exon_skip_211470 | chr1 | 244858729:244858841:244859275:244859374:244860335:244860461 | 244859275:244859374 |
| exon_skip_21639 | chr1 | 244862461:244862534:244862619:244862730:244863674:244863805 | 244862619:244862730 |
| exon_skip_216943 | chr1 | 244856101:244856158:244856457:244856625:244856728:244856850 | 244856457:244856625 |
| exon_skip_224567 | chr1 | 244846625:244846706:244848788:244848856:244854973:244854988 | 244848788:244848856 |
| exon_skip_253946 | chr1 | 244846625:244846706:244848788:244848856:244854318:244854503 | 244848788:244848856 |
| exon_skip_291086 | chr1 | 244862461:244862534:244862619:244862730:244863674:244863932 | 244862619:244862730 |
| exon_skip_294783 | chr1 | 244846625:244846706:244854973:244855044:244855424:244855597 | 244854973:244855044 |
| exon_skip_35273 | chr1 | 244846604:244846706:244847002:244847053:244848788:244848856 | 244847002:244847053 |
| exon_skip_38107 | chr1 | 244846625:244846706:244848788:244848856:244854973:244855044 | 244848788:244848856 |
| exon_skip_48512 | chr1 | 244856457:244856625:244856728:244856856:244857598:244857717 | 244856728:244856856 |
| exon_skip_67141 | chr1 | 244854382:244854503:244854973:244855044:244855424:244855608 | 244854973:244855044 |
| exon_skip_72858 | chr1 | 244855904:244856158:244856457:244856625:244856728:244856850 | 244856457:244856625 |
| exon_skip_77701 | chr1 | 244854318:244854503:244854973:244855044:244855424:244855597 | 244854973:244855044 |
| exon_skip_85077 | chr1 | 244854382:244854503:244854973:244855044:244855424:244855597 | 244854973:244855044 |
| exon_skip_89782 | chr1 | 244855904:244856158:244856457:244856625:244856728:244856799 | 244856457:244856625 |
| exon_skip_98556 | chr1 | 244862461:244862534:244862619:244862730:244863617:244863653 | 244862619:244862730 |
| 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 HNRNPU |
| 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 |
| ENST00000640218 | 244856457 | 244856625 | Frame-shift |
| ENST00000640218 | 244859275 | 244859374 | Frame-shift |
| ENST00000640218 | 244862619 | 244862730 | Frame-shift |
| ENST00000640218 | 244854973 | 244855044 | 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 |
| ENST00000640218 | 244856457 | 244856625 | Frame-shift |
| ENST00000640218 | 244854973 | 244855044 | 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 |
| ENST00000640218 | 244856457 | 244856625 | Frame-shift |
| ENST00000640218 | 244862619 | 244862730 | Frame-shift |
| ENST00000640218 | 244854973 | 244855044 | In-frame |
| ENST00000640218 | 244856728 | 244856856 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HNRNPU |
p-ENSG00000153187_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 |
| ENST00000640218 | 6875 | 825 | 244854973 | 244855044 | 2583 | 2653 | 784 | 807 |
| 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 |
| ENST00000640218 | 6875 | 825 | 244854973 | 244855044 | 2583 | 2653 | 784 | 807 |
| 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 |
| ENST00000640218 | 6875 | 825 | 244856728 | 244856856 | 1845 | 1972 | 538 | 580 |
| ENST00000640218 | 6875 | 825 | 244854973 | 244855044 | 2583 | 2653 | 784 | 807 |
| 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 |
| Q00839 | 784 | 807 | 2 | 825 | Chain | ID=PRO_0000081872;Note=Heterogeneous nuclear ribonucleoprotein U |
| Q00839 | 784 | 807 | 703 | 825 | Compositional bias | Note=Gly-rich |
| Q00839 | 784 | 807 | 171 | 825 | Natural variant | ID=VAR_078622;Note=In EIEE54. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25356899;Dbxref=PMID:25356899 |
| Q00839 | 784 | 807 | 805 | 825 | Natural variant | ID=VAR_078623;Note=In EIEE54%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=PMID:23708187 |
| 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 |
| Q00839 | 784 | 807 | 2 | 825 | Chain | ID=PRO_0000081872;Note=Heterogeneous nuclear ribonucleoprotein U |
| Q00839 | 784 | 807 | 703 | 825 | Compositional bias | Note=Gly-rich |
| Q00839 | 784 | 807 | 171 | 825 | Natural variant | ID=VAR_078622;Note=In EIEE54. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25356899;Dbxref=PMID:25356899 |
| Q00839 | 784 | 807 | 805 | 825 | Natural variant | ID=VAR_078623;Note=In EIEE54%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=PMID:23708187 |
| 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 |
| Q00839 | 538 | 580 | 2 | 825 | Chain | ID=PRO_0000081872;Note=Heterogeneous nuclear ribonucleoprotein U |
| Q00839 | 538 | 580 | 565 | 565 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| Q00839 | 538 | 580 | 574 | 574 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| Q00839 | 538 | 580 | 551 | 551 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| Q00839 | 538 | 580 | 565 | 565 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| Q00839 | 538 | 580 | 171 | 825 | Natural variant | ID=VAR_078622;Note=In EIEE54. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25356899;Dbxref=PMID:25356899 |
| Q00839 | 538 | 580 | 488 | 672 | Region | Note=ATPase domain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28622508;Dbxref=PMID:28622508 |
| Q00839 | 784 | 807 | 2 | 825 | Chain | ID=PRO_0000081872;Note=Heterogeneous nuclear ribonucleoprotein U |
| Q00839 | 784 | 807 | 703 | 825 | Compositional bias | Note=Gly-rich |
| Q00839 | 784 | 807 | 171 | 825 | Natural variant | ID=VAR_078622;Note=In EIEE54. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25356899;Dbxref=PMID:25356899 |
| Q00839 | 784 | 807 | 805 | 825 | Natural variant | ID=VAR_078623;Note=In EIEE54%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=PMID:23708187 |
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3'-UTR located exon skipping events that lost miRNA binding sites in HNRNPU |
| 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 HNRNPU |
| - 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 HNRNPU |
| 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 HNRNPU |
| 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 HNRNPU |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for HNRNPU |
| 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 HNRNPU |
| 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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