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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 HTRA1 |
 Gene summary |
| Gene information | Gene symbol | HTRA1 | Gene ID | 5654 |
| Gene name | HtrA serine peptidase 1 | |
| Synonyms | ARMD7|CADASIL2|CARASIL|HtrA|L56|ORF480|PRSS11 | |
| Cytomap | 10q26.13 | |
| Type of gene | protein-coding | |
| Description | serine protease HTRA1IGFBP5-proteasehigh-temperature requirement A serine peptidase 1protease, serine, 11 (IGF binding) | |
| Modification date | 20200322 | |
| UniProtAcc | ||
| Context | - 31603204(Rs2293871 regulates HTRA1 expression and affects cerebral small vessel stroke and Alzheimer's disease) |
| 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 HTRA1 |
| 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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ENSG00000166033
| 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 HTRA1 |
| 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_244565 | chr10 | 122510096:122510153:122511970:122512065:122514191:122514894 | 122511970:122512065 |
| exon_skip_247751 | chr10 | 122489422:122489626:122506691:122506885:122507370:122507402 | 122506691:122506885 |
| exon_skip_84513 | chr10 | 122506691:122506885:122507370:122507402:122508656:122508770 | 122507370:122507402 |
| 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 HTRA1 |
| 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 |
| ENST00000368984 | 122511970 | 122512065 | 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 |
| 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 |
| ENST00000368984 | 122506691 | 122506885 | In-frame |
| ENST00000368984 | 122507370 | 122507402 | In-frame |
| ENST00000368984 | 122511970 | 122512065 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HTRA1 |
p-ENSG00000166033_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 |
| ENST00000368984 | 2137 | 480 | 122511970 | 122512065 | 1308 | 1402 | 393 | 424 |
| 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 |
| 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 |
| ENST00000368984 | 2137 | 480 | 122506691 | 122506885 | 907 | 1100 | 259 | 324 |
| ENST00000368984 | 2137 | 480 | 122507370 | 122507402 | 1102 | 1133 | 324 | 335 |
| ENST00000368984 | 2137 | 480 | 122511970 | 122512065 | 1308 | 1402 | 393 | 424 |
| 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 |
| Q92743 | 393 | 424 | 411 | 417 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JOA |
| Q92743 | 393 | 424 | 419 | 421 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JOA |
| Q92743 | 393 | 424 | 23 | 480 | Chain | ID=PRO_0000026943;Note=Serine protease HTRA1 |
| Q92743 | 393 | 424 | 365 | 467 | Domain | Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q92743 | 393 | 424 | 392 | 401 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JOA |
| Q92743 | 393 | 424 | 422 | 426 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JOA |
| 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 |
| 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 |
| Q92743 | 259 | 324 | 278 | 286 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TJO |
| Q92743 | 259 | 324 | 289 | 299 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TJO |
| Q92743 | 259 | 324 | 301 | 303 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TJN |
| Q92743 | 259 | 324 | 317 | 321 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TJO |
| Q92743 | 259 | 324 | 23 | 480 | Chain | ID=PRO_0000026943;Note=Serine protease HTRA1 |
| Q92743 | 259 | 324 | 270 | 272 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TJO |
| Q92743 | 259 | 324 | 304 | 306 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NZI |
| Q92743 | 259 | 324 | 284 | 284 | Natural variant | ID=VAR_076378;Note=In CADASIL2%3B partial loss of proteolytic activity. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26063658;Dbxref=PMID:26063658 |
| Q92743 | 259 | 324 | 284 | 284 | Natural variant | ID=VAR_076379;Note=In CADASIL2%3B loss of proteolytic activity. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26063658;Dbxref=dbSNP:rs864622782,PMID:26063658 |
| Q92743 | 259 | 324 | 285 | 285 | Natural variant | ID=VAR_076380;Note=In CADASIL2%3B loss of proteolytic activity. P->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26063658;Dbxref=PMID:26063658 |
| Q92743 | 259 | 324 | 286 | 286 | Natural variant | ID=VAR_076381;Note=In CADASIL2%3B loss of proteolytic activity. F->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26063658;Dbxref=PMID:26063658 |
| Q92743 | 259 | 324 | 297 | 297 | Natural variant | ID=VAR_063149;Note=In CARASIL%3B has 21 to 50%25 normal protease activity%3B is unable to suppress TGF-beta activity. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19387015;Dbxref=dbSNP:rs113993969,PMID:19387015 |
| Q92743 | 259 | 324 | 204 | 364 | Region | Note=Serine protease |
| Q92743 | 259 | 324 | 323 | 323 | Sequence conflict | Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q92743 | 259 | 324 | 278 | 278 | Site | Note=Involved in trimer stabilization;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21297635;Dbxref=PMID:21297635 |
| Q92743 | 324 | 335 | 328 | 328 | Active site | Note=Charge relay system;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21297635;Dbxref=PMID:21297635 |
| Q92743 | 324 | 335 | 330 | 333 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TJO |
| Q92743 | 324 | 335 | 23 | 480 | Chain | ID=PRO_0000026943;Note=Serine protease HTRA1 |
| Q92743 | 324 | 335 | 328 | 328 | Mutagenesis | Note=Loss of activity. S->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21297635,ECO:0000269|PubMed:9852107;Dbxref=PMID:21297635,PMID:9852107 |
| Q92743 | 324 | 335 | 204 | 364 | Region | Note=Serine protease |
| Q92743 | 324 | 335 | 325 | 329 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TJO |
| Q92743 | 393 | 424 | 411 | 417 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JOA |
| Q92743 | 393 | 424 | 419 | 421 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JOA |
| Q92743 | 393 | 424 | 23 | 480 | Chain | ID=PRO_0000026943;Note=Serine protease HTRA1 |
| Q92743 | 393 | 424 | 365 | 467 | Domain | Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q92743 | 393 | 424 | 392 | 401 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JOA |
| Q92743 | 393 | 424 | 422 | 426 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JOA |
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3'-UTR located exon skipping events that lost miRNA binding sites in HTRA1 |
| 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 HTRA1 |
| - 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 HTRA1 |
| 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 HTRA1 |
| 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 HTRA1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for HTRA1 |
| 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 HTRA1 |
| 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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