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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for HSP90AA1 |
 Gene summary |
| Gene information | Gene symbol | HSP90AA1 | Gene ID | 3320 |
| Gene name | heat shock protein 90 alpha family class A member 1 | |
| Synonyms | EL52|HEL-S-65p|HSP86|HSP89A|HSP90A|HSP90N|HSPC1|HSPCA|HSPCAL1|HSPCAL4|HSPN|Hsp103|Hsp89|Hsp90|LAP-2|LAP2 | |
| Cytomap | 14q32.31 | |
| Type of gene | protein-coding | |
| Description | heat shock protein HSP 90-alphaHSP 86LPS-associated protein 2epididymis luminal secretory protein 52epididymis secretory sperm binding protein Li 65pheat shock 86 kDaheat shock 90kD protein 1, alphaheat shock 90kD protein 1, alpha-like 4heat shock | |
| Modification date | 20180527 | |
| UniProtAcc | P07900 | |
| Context | PubMed: HSP90AA1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| HSP90AA1 | GO:0001934 | positive regulation of protein phosphorylation | 19363271 |
| HSP90AA1 | GO:0007004 | telomere maintenance via telomerase | 10197982 |
| HSP90AA1 | GO:0031396 | regulation of protein ubiquitination | 16809764 |
| HSP90AA1 | GO:0032273 | positive regulation of protein polymerization | 19363271 |
| HSP90AA1 | GO:0045040 | protein import into mitochondrial outer membrane | 15644312 |
| HSP90AA1 | GO:0051131 | chaperone-mediated protein complex assembly | 15644312 |
| HSP90AA1 | GO:0051973 | positive regulation of telomerase activity | 10197982 |
| HSP90AA1 | GO:1902949 | positive regulation of tau-protein kinase activity | 19363271 |
| HSP90AA1 | GO:1905323 | telomerase holoenzyme complex assembly | 10197982 |
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Exon skipping events across known transcript of Ensembl for HSP90AA1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for HSP90AA1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for HSP90AA1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_115990 | 14 | 102547385:102548158:102548447:102548781:102549370:102549639 | 102548447:102548781 | ENSG00000080824.14 | ENST00000216281.8,ENST00000334701.7 |
| exon_skip_115998 | 14 | 102551688:102551768:102552094:102552461:102552553:102552668 | 102552094:102552461 | ENSG00000080824.14 | ENST00000216281.8,ENST00000334701.7 |
| exon_skip_115999 | 14 | 102551688:102551768:102552301:102552461:102552553:102552668 | 102552301:102552461 | ENSG00000080824.14 | ENST00000553585.1 |
| exon_skip_116004 | 14 | 102552553:102552715:102568211:102568422:102605586:102605802 | 102568211:102568422 | ENSG00000080824.14 | ENST00000334701.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HSP90AA1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_115990 | 14 | 102547385:102548158:102548447:102548781:102549370:102549639 | 102548447:102548781 | ENSG00000080824.14 | ENST00000216281.8,ENST00000334701.7 |
| exon_skip_115998 | 14 | 102551688:102551768:102552094:102552461:102552553:102552668 | 102552094:102552461 | ENSG00000080824.14 | ENST00000216281.8,ENST00000334701.7 |
| exon_skip_115999 | 14 | 102551688:102551768:102552301:102552461:102552553:102552668 | 102552301:102552461 | ENSG00000080824.14 | ENST00000553585.1 |
| exon_skip_116004 | 14 | 102552553:102552715:102568211:102568422:102605586:102605802 | 102568211:102568422 | ENSG00000080824.14 | ENST00000334701.7 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for HSP90AA1 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000216281 | 102548447 | 102548781 | Frame-shift |
| ENST00000216281 | 102552094 | 102552461 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000216281 | 102548447 | 102548781 | Frame-shift |
| ENST00000216281 | 102552094 | 102552461 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for HSP90AA1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 GTEx 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 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 GTEx. |
| 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 |
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SNVs in the skipped exons for HSP90AA1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_115990 | 102548448 | 102548781 | 102548493 | 102548493 | Frame_Shift_Del | G | - | p.Q804fs |
| LIHC | TCGA-G3-A7M9-01 | exon_skip_115990 | 102548448 | 102548781 | 102548666 | 102548670 | Frame_Shift_Del | GTTGA | - | p.745_746del |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_115998 | 102552095 | 102552461 | 102552121 | 102552121 | Frame_Shift_Del | C | - | p.G290fs |
| PRAD | TCGA-KK-A8I8-01 | exon_skip_115990 | 102548448 | 102548781 | 102548543 | 102548543 | Nonsense_Mutation | A | T | p.L787* |
| KIRP | TCGA-B1-A654-01 | exon_skip_115990 | 102548448 | 102548781 | 102548766 | 102548766 | Nonsense_Mutation | G | A | p.R591* |
| LUAD | TCGA-55-7907-01 | exon_skip_115990 | 102548448 | 102548781 | 102548771 | 102548771 | Nonsense_Mutation | G | T | p.S589* |
| LUAD | TCGA-55-7907-01 | exon_skip_115990 | 102548448 | 102548781 | 102548771 | 102548771 | Nonsense_Mutation | G | T | p.S711* |
| BLCA | TCGA-K4-A6MB-01 | exon_skip_115998 | 102552095 | 102552461 | 102552188 | 102552188 | Nonsense_Mutation | C | A | p.E268* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| HS766T_PANCREAS | 102548448 | 102548781 | 102548663 | 102548680 | In_Frame_Del | ATTGTTGAGTTGTCTCTT | - | p.RDNSTM620del |
| NY_BONE | 102548448 | 102548781 | 102548459 | 102548459 | Missense_Mutation | T | G | p.K693T |
| HCC202_BREAST | 102548448 | 102548781 | 102548631 | 102548631 | Missense_Mutation | T | C | p.I636V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102548448 | 102548781 | 102548654 | 102548654 | Missense_Mutation | A | T | p.M628K |
| SNU1040_LARGE_INTESTINE | 102548448 | 102548781 | 102548685 | 102548685 | Missense_Mutation | C | T | p.A618T |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102548448 | 102548781 | 102548726 | 102548726 | Missense_Mutation | T | A | p.Y604F |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102548448 | 102548781 | 102548751 | 102548751 | Missense_Mutation | G | A | p.P596S |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102552095 | 102552461 | 102552112 | 102552112 | Missense_Mutation | G | A | p.T171I |
| SNGM_ENDOMETRIUM | 102552095 | 102552461 | 102552142 | 102552142 | Missense_Mutation | G | A | p.A161V |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102552095 | 102552461 | 102552176 | 102552176 | Missense_Mutation | C | T | p.V150M |
| D283MED_CENTRAL_NERVOUS_SYSTEM | 102552095 | 102552461 | 102552183 | 102552183 | Missense_Mutation | T | G | p.K147N |
| OCILY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102552095 | 102552461 | 102552301 | 102552301 | Missense_Mutation | C | T | p.G108D |
| OCILY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102552302 | 102552461 | 102552301 | 102552301 | Missense_Mutation | C | T | p.G108D |
| FTC133_THYROID | 102568212 | 102568422 | 102568235 | 102568235 | Missense_Mutation | G | A | p.P115S |
| PEO1_OVARY | 102568212 | 102568422 | 102568328 | 102568328 | Missense_Mutation | G | C | p.Q84E |
| HCC2218_BREAST | 102568212 | 102568422 | 102568355 | 102568355 | Missense_Mutation | A | T | p.S75T |
| HCC2218_MATCHED_NORMAL_TISSUE | 102568212 | 102568422 | 102568355 | 102568355 | Missense_Mutation | A | T | p.S75T |
| NCIBL209_MATCHED_NORMAL_TISSUE | 102568212 | 102568422 | 102568355 | 102568355 | Missense_Mutation | A | T | p.S75T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HSP90AA1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_116004 | 14 | 102552553:102552715:102568211:102568422:102605586:102605802 | 102568211:102568422 | ENST00000334701.7 | LGG | rs10873531 | chr14:102568296 | G/A | 5.40e-06 |
| exon_skip_116004 | 14 | 102552553:102552715:102568211:102568422:102605586:102605802 | 102568211:102568422 | ENST00000334701.7 | LGG | rs8005905 | chr14:102568367 | A/T | 6.36e-06 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HSP90AA1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HSP90AA1 |
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RelatedDrugs for HSP90AA1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P07900 | DB00615 | Rifabutin | Heat shock protein HSP 90-alpha | small molecule | approved|investigational | |
| P07900 | DB00716 | Nedocromil | Heat shock protein HSP 90-alpha | small molecule | approved|investigational |
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RelatedDiseases for HSP90AA1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| HSP90AA1 | C0009178 | Cocaine withdrawal | 1 | PSYGENET |
| HSP90AA1 | C0011616 | Contact Dermatitis | 1 | CTD_human |
| HSP90AA1 | C0019693 | HIV Infections | 1 | CTD_human |
| HSP90AA1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| HSP90AA1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| HSP90AA1 | C0206180 | Ki-1+ Anaplastic Large Cell Lymphoma | 1 | CTD_human |
| HSP90AA1 | C0525045 | Mood Disorders | 1 | PSYGENET |
| HSP90AA1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| HSP90AA1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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