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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 HSF2 |
Gene summary |
| Gene information | Gene symbol | HSF2 | Gene ID | 3298 |
| Gene name | heat shock transcription factor 2 | |
| Synonyms | HSF 2|HSTF 2 | |
| Cytomap | 6q22.31 | |
| Type of gene | protein-coding | |
| Description | heat shock factor protein 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q03933 | |
| Context | PubMed: HSF2 [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 |
| HSF2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 10561509 |
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Exon skipping events across known transcript of Ensembl for HSF2 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 HSF2 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for HSF2 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_453934 | 6 | 122741279:122741367:122743294:122743443:122743862:122744102 | 122743294:122743443 | ENSG00000025156.8 | ENST00000452194.1,ENST00000368455.4 |
| exon_skip_453937 | 6 | 122744725:122744831:122749047:122749101:122752574:122752659 | 122749047:122749101 | ENSG00000025156.8 | ENST00000368455.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HSF2 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_453934 | 6 | 122741279:122741367:122743294:122743443:122743862:122744102 | 122743294:122743443 | ENSG00000025156.8 | ENST00000368455.4,ENST00000452194.1 |
| exon_skip_453937 | 6 | 122744725:122744831:122749047:122749101:122752574:122752659 | 122749047:122749101 | ENSG00000025156.8 | ENST00000368455.4 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for HSF2 |
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 |
| ENST00000368455 | 122743294 | 122743443 | Frame-shift |
| ENST00000368455 | 122749047 | 122749101 | In-frame |
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 |
| ENST00000368455 | 122743294 | 122743443 | Frame-shift |
| ENST00000368455 | 122749047 | 122749101 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HSF2 |
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 |
| ENST00000368455 | 2566 | 536 | 122749047 | 122749101 | 1369 | 1422 | 392 | 410 |
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 |
| ENST00000368455 | 2566 | 536 | 122749047 | 122749101 | 1369 | 1422 | 392 | 410 |
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 |
| Q03933 | 392 | 410 | 393 | 410 | Alternative sequence | ID=VSP_041128;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q03933 | 392 | 410 | 1 | 536 | Chain | ID=PRO_0000124569;Note=Heat shock factor protein 2 |
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 |
| Q03933 | 392 | 410 | 393 | 410 | Alternative sequence | ID=VSP_041128;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q03933 | 392 | 410 | 1 | 536 | Chain | ID=PRO_0000124569;Note=Heat shock factor protein 2 |
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SNVs in the skipped exons for HSF2 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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 |
- 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 |
| CW2_LARGE_INTESTINE | 122749048 | 122749101 | 122749098 | 122749098 | Frame_Shift_Del | A | - | p.T409fs |
| EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 122743295 | 122743443 | 122743348 | 122743348 | Missense_Mutation | C | A | p.D245E |
| AN3CA_ENDOMETRIUM | 122743295 | 122743443 | 122743353 | 122743353 | Missense_Mutation | T | C | p.I247T |
| SNU1040_LARGE_INTESTINE | 122743295 | 122743443 | 122743379 | 122743379 | Missense_Mutation | G | A | p.A256T |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 122749048 | 122749101 | 122749084 | 122749084 | Missense_Mutation | T | A | p.Y405N |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 122749048 | 122749101 | 122749084 | 122749084 | Missense_Mutation | T | A | p.Y405N |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 122749048 | 122749101 | 122749084 | 122749084 | Missense_Mutation | T | A | p.Y405N |
| JHUEM7_ENDOMETRIUM | 122749048 | 122749101 | 122749101 | 122749101 | Splice_Site | A | C | p.K410N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HSF2 |
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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HSF2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HSF2 |
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RelatedDrugs for HSF2 |
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 |
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RelatedDiseases for HSF2 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |