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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 HEY1 |
 Gene summary |
| Gene information | Gene symbol | HEY1 | Gene ID | 23462 |
| Gene name | hes related family bHLH transcription factor with YRPW motif 1 | |
| Synonyms | BHLHb31|CHF2|HERP2|HESR1|HRT-1|OAF1|hHRT1 | |
| Cytomap | 8q21.13 | |
| Type of gene | protein-coding | |
| Description | hairy/enhancer-of-split related with YRPW motif protein 1HES-related repressor protein 1HES-related repressor protein 2basic helix-loop-helix protein OAF1cardiovascular helix-loop-helix factor 2class B basic helix-loop-helix protein 31hairy and enha | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y5J3 | |
| Context | PubMed: HEY1 [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 |
| HEY1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 16043483|21290414 |
| HEY1 | GO:0007219 | Notch signaling pathway | 10964718|25985737 |
| HEY1 | GO:0045746 | negative regulation of Notch signaling pathway | 18239137 |
| HEY1 | GO:0045892 | negative regulation of transcription, DNA-templated | 15485867 |
| HEY1 | GO:2000678 | negative regulation of transcription regulatory region DNA binding | 18239137 |
| HEY1 | GO:2000820 | negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation | 18239137 |
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Exon skipping events across known transcript of Ensembl for HEY1 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 HEY1 |
| 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 HEY1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_490502 | 8 | 80677665:80678006:80678885:80678967:80679231:80679327 | 80678885:80678967 | ENSG00000164683.12 | ENST00000337919.5 |
| exon_skip_490503 | 8 | 80677665:80678006:80678885:80678967:80679243:80679327 | 80678885:80678967 | ENSG00000164683.12 | ENST00000518733.1,ENST00000354724.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HEY1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_490502 | 8 | 80677665:80678006:80678885:80678967:80679231:80679327 | 80678885:80678967 | ENSG00000164683.12 | ENST00000337919.5 |
| exon_skip_490503 | 8 | 80677665:80678006:80678885:80678967:80679243:80679327 | 80678885:80678967 | ENSG00000164683.12 | ENST00000354724.3,ENST00000518733.1 |
| 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 HEY1 |
| 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 |
| ENST00000354724 | 80678885 | 80678967 | 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 |
| ENST00000354724 | 80678885 | 80678967 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for HEY1 |
| 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 HEY1 |
| - 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 |
| - 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HEY1 |
| 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 HEY1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HEY1 |
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RelatedDrugs for HEY1 |
| 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 HEY1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| HEY1 | C0004114 | Astrocytoma | 1 | CTD_human |
| HEY1 | C0017636 | Glioblastoma | 1 | CTD_human |
| HEY1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| HEY1 | C0028945 | oligodendroglioma | 1 | CTD_human |
| HEY1 | C0206663 | Neuroectodermal Tumor, Primitive | 1 | CTD_human |
| HEY1 | C0887833 | Carcinoma, Pancreatic Ductal | 1 | CTD_human |
| HEY1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| HEY1 | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
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