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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 HSPA9 |
 Gene summary |
| Gene information | Gene symbol | HSPA9 | Gene ID | 3313 |
| Gene name | heat shock protein family A (Hsp70) member 9 | |
| Synonyms | CRP40|CSA|EVPLS|GRP-75|GRP75|HEL-S-124m|HSPA9B|MOT|MOT2|MTHSP75|PBP74|SAAN|SIDBA4 | |
| Cytomap | 5q31.2 | |
| Type of gene | protein-coding | |
| Description | stress-70 protein, mitochondrial75 kDa glucose-regulated proteincatecholamine-regulated protein 40epididymis secretory sperm binding protein Li 124mheat shock 70kD protein 9Bheat shock 70kDa protein 9 (mortalin)mortalin, perinuclearmortalin-2morta | |
| Modification date | 20200327 | |
| UniProtAcc | ||
| Context | - 28340952(Lack of Association of Mortalin (HSPA9) and Other Mitochondria-Related Genes With Risk of Parkinson's and Alzheimer's Diseases) |
| 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 HSPA9 |
| 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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ENSG00000113013
| 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 | DOWN | ENST00000501917.7 | HSPA9-202:protein_coding:HSPA9 | 4.349963e+01 | -1.786464e+00 | 9.643836e-13 | 1.436443e-10 |
| TC | DOWN | ENST00000501917.7 | HSPA9-202:protein_coding:HSPA9 | 5.512868e+01 | -1.582152e+00 | 5.388398e-12 | 1.534589e-09 |
| 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 HSPA9 |
| 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_112988 | chr5 | 138559864:138560091:138560781:138560931:138561580:138561705 | 138560781:138560931 |
| exon_skip_123141 | chr5 | 138561580:138561789:138566626:138566718:138567001:138567010 | 138566626:138566718 |
| exon_skip_130280 | chr5 | 138573763:138573850:138574068:138574126:138575238:138575401 | 138574068:138574126 |
| exon_skip_130492 | chr5 | 138557342:138557496:138557869:138557986:138558553:138558657 | 138557869:138557986 |
| exon_skip_135 | chr5 | 138561733:138561789:138566626:138566718:138567001:138567010 | 138566626:138566718 |
| exon_skip_142297 | chr5 | 138573777:138573850:138574068:138574169:138575238:138575401 | 138574068:138574169 |
| exon_skip_217369 | chr5 | 138557447:138557496:138557869:138557986:138558553:138558657 | 138557869:138557986 |
| exon_skip_263876 | chr5 | 138567512:138567561:138567649:138567722:138568925:138569049 | 138567649:138567722 |
| exon_skip_269193 | chr5 | 138573777:138573850:138574068:138574169:138575238:138575340 | 138574068:138574169 |
| exon_skip_289942 | chr5 | 138570977:138571141:138573763:138573850:138575238:138575340 | 138573763:138573850 |
| exon_skip_291782 | chr5 | 138557467:138557496:138557869:138557986:138558553:138558657 | 138557869:138557986 |
| exon_skip_292772 | chr5 | 138573763:138573850:138574068:138574169:138575238:138575401 | 138574068:138574169 |
| exon_skip_54874 | chr5 | 138567455:138567561:138567649:138567722:138568925:138569049 | 138567649:138567722 |
| exon_skip_72198 | chr5 | 138573777:138573850:138574068:138574126:138575238:138575340 | 138574068:138574126 |
| exon_skip_76371 | chr5 | 138557450:138557496:138557869:138557986:138558553:138558657 | 138557869:138557986 |
| exon_skip_76638 | chr5 | 138559864:138560091:138560781:138560931:138561580:138561789 | 138560781:138560931 |
| 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 HSPA9 |
| 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 |
| ENST00000297185 | 138557869 | 138557986 | Frame-shift |
| ENST00000297185 | 138567649 | 138567722 | Frame-shift |
| ENST00000297185 | 138566626 | 138566718 | 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 |
| ENST00000297185 | 138557869 | 138557986 | Frame-shift |
| ENST00000297185 | 138567649 | 138567722 | Frame-shift |
| 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 |
| ENST00000297185 | 138557869 | 138557986 | Frame-shift |
| ENST00000297185 | 138567649 | 138567722 | Frame-shift |
| ENST00000297185 | 138566626 | 138566718 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HSPA9 |
p-ENSG00000113013_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 |
| ENST00000297185 | 3338 | 679 | 138566626 | 138566718 | 1006 | 1097 | 293 | 323 |
| 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 |
| ENST00000297185 | 3338 | 679 | 138566626 | 138566718 | 1006 | 1097 | 293 | 323 |
| 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 |
| P38646 | 293 | 323 | 323 | 333 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KBO |
| P38646 | 293 | 323 | 47 | 679 | Chain | ID=PRO_0000013563;Note=Stress-70 protein%2C mitochondrial |
| P38646 | 293 | 323 | 275 | 294 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KBO |
| P38646 | 293 | 323 | 302 | 318 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KBO |
| P38646 | 293 | 323 | 300 | 300 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P38646 | 293 | 323 | 300 | 300 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P38647 |
| P38646 | 293 | 323 | 1 | 432 | Region | Note=Interaction with NFS1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26702583;Dbxref=PMID:26702583 |
| P38646 | 293 | 323 | 319 | 321 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KBO |
| 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 |
| P38646 | 293 | 323 | 323 | 333 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KBO |
| P38646 | 293 | 323 | 47 | 679 | Chain | ID=PRO_0000013563;Note=Stress-70 protein%2C mitochondrial |
| P38646 | 293 | 323 | 275 | 294 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KBO |
| P38646 | 293 | 323 | 302 | 318 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KBO |
| P38646 | 293 | 323 | 300 | 300 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P38646 | 293 | 323 | 300 | 300 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P38647 |
| P38646 | 293 | 323 | 1 | 432 | Region | Note=Interaction with NFS1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26702583;Dbxref=PMID:26702583 |
| P38646 | 293 | 323 | 319 | 321 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KBO |
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3'-UTR located exon skipping events that lost miRNA binding sites in HSPA9 |
| 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 HSPA9 |
| - 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 HSPA9 |
| 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 HSPA9 |
| 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 HSPA9 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for HSPA9 |
| 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 HSPA9 |
| 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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