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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 HERPUD1 |
 Gene summary |
| Gene information | Gene symbol | HERPUD1 | Gene ID | 9709 |
| Gene name | homocysteine inducible ER protein with ubiquitin like domain 1 | |
| Synonyms | HERP|Mif1|SUP | |
| Cytomap | 16q13 | |
| Type of gene | protein-coding | |
| Description | homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 proteinMMS-induciblehomocysteine-inducible endoplasmic reticulum stress-inducible ubiquitin-like domain member 1 proteinhomocysteine-inducible, endoplasmic reticulum | |
| Modification date | 20200313 | |
| UniProtAcc | A0A2Z2EHH6, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| HERPUD1 | GO:0032469 | endoplasmic reticulum calcium ion homeostasis | 15102845|22045699 |
| HERPUD1 | GO:1902236 | negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 15102845 |
| HERPUD1 | GO:1903071 | positive regulation of ER-associated ubiquitin-dependent protein catabolic process | 22045699 |
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Gene structures and expression levels for HERPUD1 |
| 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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ENSG00000051108
| 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 |
| CB | UP | ENST00000569569.5 | HERPUD1-218:retained_intron:HERPUD1 | 5.478839e+01 | 9.996304e-01 | 6.734592e-11 | 4.537014e-09 |
| CB | DOWN | ENST00000344114.8 | HERPUD1-202:protein_coding:HERPUD1 | 1.394045e+02 | -2.155928e+00 | 1.344591e-10 | 8.086488e-09 |
| CB | UP | ENST00000567944.1 | HERPUD1-212:retained_intron:HERPUD1 | 6.349765e+00 | 8.089898e-01 | 3.287957e-07 | 5.822772e-06 |
| CB | UP | ENST00000562914.1 | HERPUD1-205:retained_intron:HERPUD1 | 5.877576e+00 | 9.376229e-01 | 1.037801e-06 | 1.545641e-05 |
| TC | DOWN | ENST00000344114.8 | HERPUD1-202:protein_coding:HERPUD1 | 7.134586e+01 | -4.064085e+00 | 1.791204e-14 | 1.114891e-11 |
| 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 HERPUD1 |
| 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_156891 | chr16 | 56935235:56935312:56935404:56935475:56936687:56936742 | 56935404:56935475 |
| exon_skip_206719 | chr16 | 56935242:56935312:56935404:56935475:56936687:56936817 | 56935404:56935475 |
| exon_skip_254932 | chr16 | 56936724:56936817:56939237:56939359:56939895:56939946 | 56939237:56939359 |
| exon_skip_273564 | chr16 | 56936687:56936817:56939895:56940245:56942132:56942237 | 56939895:56940245 |
| exon_skip_289454 | chr16 | 56936724:56936817:56939237:56939359:56939895:56940245 | 56939237:56939359 |
| exon_skip_31680 | chr16 | 56936787:56936817:56939895:56940245:56942132:56942237 | 56939895:56940245 |
| exon_skip_35761 | chr16 | 56935242:56935312:56935401:56935475:56936687:56936817 | 56935401:56935475 |
| exon_skip_83342 | chr16 | 56935235:56935312:56935401:56935475:56936687:56936742 | 56935401:56935475 |
| 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 HERPUD1 |
| 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 |
| ENST00000439977 | 56935401 | 56935475 | In-frame |
| ENST00000439977 | 56939237 | 56939359 | 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 |
| ENST00000439977 | 56935401 | 56935475 | In-frame |
| ENST00000439977 | 56939237 | 56939359 | 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 |
| ENST00000439977 | 56935401 | 56935475 | In-frame |
| ENST00000439977 | 56939237 | 56939359 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HERPUD1 |
p-ENSG00000051108_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 |
| ENST00000439977 | 2963 | 391 | 56935401 | 56935475 | 424 | 497 | 75 | 100 |
| ENST00000439977 | 2963 | 391 | 56939237 | 56939359 | 630 | 751 | 144 | 184 |
| 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 |
| ENST00000439977 | 2963 | 391 | 56935401 | 56935475 | 424 | 497 | 75 | 100 |
| ENST00000439977 | 2963 | 391 | 56939237 | 56939359 | 630 | 751 | 144 | 184 |
| 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 |
| ENST00000439977 | 2963 | 391 | 56935401 | 56935475 | 424 | 497 | 75 | 100 |
| ENST00000439977 | 2963 | 391 | 56939237 | 56939359 | 630 | 751 | 144 | 184 |
| 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 |
| Q15011 | 75 | 100 | 75 | 99 | Alternative sequence | ID=VSP_047333;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15011 | 75 | 100 | 76 | 76 | Alternative sequence | ID=VSP_006708;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 |
| Q15011 | 75 | 100 | 75 | 77 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WGD |
| Q15011 | 75 | 100 | 79 | 85 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WGD |
| Q15011 | 75 | 100 | 1 | 391 | Chain | ID=PRO_0000114920;Note=Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein |
| Q15011 | 75 | 100 | 1 | 263 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q15011 | 144 | 184 | 145 | 302 | Alternative sequence | ID=VSP_006709;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q15011 | 144 | 184 | 1 | 391 | Chain | ID=PRO_0000114920;Note=Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein |
| Q15011 | 144 | 184 | 115 | 200 | Region | Note=Interaction with UBQLN1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18307982;Dbxref=PMID:18307982 |
| Q15011 | 144 | 184 | 1 | 263 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q15011 | 75 | 100 | 75 | 99 | Alternative sequence | ID=VSP_047333;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15011 | 75 | 100 | 76 | 76 | Alternative sequence | ID=VSP_006708;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 |
| Q15011 | 75 | 100 | 75 | 77 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WGD |
| Q15011 | 75 | 100 | 79 | 85 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WGD |
| Q15011 | 75 | 100 | 1 | 391 | Chain | ID=PRO_0000114920;Note=Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein |
| Q15011 | 75 | 100 | 1 | 263 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q15011 | 144 | 184 | 145 | 302 | Alternative sequence | ID=VSP_006709;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q15011 | 144 | 184 | 1 | 391 | Chain | ID=PRO_0000114920;Note=Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein |
| Q15011 | 144 | 184 | 115 | 200 | Region | Note=Interaction with UBQLN1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18307982;Dbxref=PMID:18307982 |
| Q15011 | 144 | 184 | 1 | 263 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q15011 | 75 | 100 | 75 | 99 | Alternative sequence | ID=VSP_047333;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15011 | 75 | 100 | 76 | 76 | Alternative sequence | ID=VSP_006708;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 |
| Q15011 | 75 | 100 | 75 | 77 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WGD |
| Q15011 | 75 | 100 | 79 | 85 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WGD |
| Q15011 | 75 | 100 | 1 | 391 | Chain | ID=PRO_0000114920;Note=Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein |
| Q15011 | 75 | 100 | 1 | 263 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q15011 | 144 | 184 | 145 | 302 | Alternative sequence | ID=VSP_006709;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q15011 | 144 | 184 | 1 | 391 | Chain | ID=PRO_0000114920;Note=Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein |
| Q15011 | 144 | 184 | 115 | 200 | Region | Note=Interaction with UBQLN1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18307982;Dbxref=PMID:18307982 |
| Q15011 | 144 | 184 | 1 | 263 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in HERPUD1 |
| 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 HERPUD1 |
| - Differential PSIs between mutated versus non-mutated samples. |
ENSG00000051108.exon_skip_206719.ROSMAP_HCC.WGS.boxplot.svg |
ENSG00000051108.exon_skip_206719.ROSMAP_PCC.WGS.boxplot.svg |
| - Depth of Coverage in the skipped exon of the mutated samples. |
ENSG00000051108.exon_skip_206719.ROSMAP_HCC.R3997006-AC.WGS.svg |
ENSG00000051108.exon_skip_206719.ROSMAP_PCC.R3997006-PCC.WGS.svg |
| - Sashimi plot in the skipped exon of the mutated samples. |
ENSG00000051108.exon_skip_206719.ROSMAP_HCC.R3997006-AC.WGS.png |
ENSG00000051108.exon_skip_206719.ROSMAP_PCC.R3997006-PCC.WGS.png |
| - 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 HERPUD1 |
| 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 HERPUD1 |
| 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 HERPUD1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for HERPUD1 |
| 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 HERPUD1 |
| 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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