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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 HHEX |
 Gene summary |
| Gene information | Gene symbol | HHEX | Gene ID | 3087 |
| Gene name | hematopoietically expressed homeobox | |
| Synonyms | HEX|HMPH|HOX11L-PEN|PRH|PRHX | |
| Cytomap | 10q23.33 | |
| Type of gene | protein-coding | |
| Description | hematopoietically-expressed homeobox protein HHEXhomeobox protein HEXhomeobox protein PRHhomeobox, hematopoietically expressedproline-rich homeodomain-containing transcription factor | |
| Modification date | 20180523 | |
| UniProtAcc | Q03014 | |
| Context | PubMed: HHEX [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 |
| HHEX | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10871399|15016828 |
| HHEX | GO:0006406 | mRNA export from nucleus | 12554669 |
| HHEX | GO:0008283 | cell proliferation | 12554669 |
| HHEX | GO:0034504 | protein localization to nucleus | 18713067 |
| HHEX | GO:0045736 | negative regulation of cyclin-dependent protein serine/threonine kinase activity | 12554669 |
| HHEX | GO:0045892 | negative regulation of transcription, DNA-templated | 10871399|15016828 |
| HHEX | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12655000 |
| HHEX | GO:0071103 | DNA conformation change | 18755198 |
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Exon skipping events across known transcript of Ensembl for HHEX 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 HHEX |
| 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 HHEX |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_43878 | 10 | 94452124:94452303:94452458:94452509:94454303:94454545 | 94452458:94452509 | ENSG00000152804.6 | ENST00000282728.5,ENST00000492654.2,ENST00000472590.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HHEX |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_43878 | 10 | 94452124:94452303:94452458:94452509:94454303:94454545 | 94452458:94452509 | ENSG00000152804.6 | ENST00000282728.5,ENST00000472590.2,ENST00000492654.2 |
| 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 HHEX |
| 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 |
| ENST00000282728 | 94452458 | 94452509 | 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 |
| ENST00000282728 | 94452458 | 94452509 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HHEX |
| 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 |
| ENST00000282728 | 3507 | 270 | 94452458 | 94452509 | 2340 | 2390 | 180 | 197 |
| 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 |
| ENST00000282728 | 3507 | 270 | 94452458 | 94452509 | 2340 | 2390 | 180 | 197 |
| 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 |
| Q03014 | 180 | 197 | 1 | 270 | Chain | ID=PRO_0000049074;Note=Hematopoietically-expressed homeobox protein HHEX |
| Q03014 | 180 | 197 | 137 | 196 | DNA binding | Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 |
| Q03014 | 180 | 197 | 178 | 194 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E1O |
| 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 |
| Q03014 | 180 | 197 | 1 | 270 | Chain | ID=PRO_0000049074;Note=Hematopoietically-expressed homeobox protein HHEX |
| Q03014 | 180 | 197 | 137 | 196 | DNA binding | Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 |
| Q03014 | 180 | 197 | 178 | 194 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E1O |
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SNVs in the skipped exons for HHEX |
| - 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 |
| UVM | TCGA-V4-A9F7-01 | exon_skip_43878 | 94452459 | 94452509 | 94452507 | 94452507 | Nonsense_Mutation | C | T | p.Q197* |
| UVM | TCGA-V4-A9F7-01 | exon_skip_43878 | 94452459 | 94452509 | 94452507 | 94452507 | Nonsense_Mutation | C | T | p.Q197X |
| - 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 |
| HCT116_LARGE_INTESTINE | 94452459 | 94452509 | 94452487 | 94452487 | Missense_Mutation | C | T | p.A190V |
| AN3CA_ENDOMETRIUM | 94452459 | 94452509 | 94452493 | 94452493 | Nonsense_Mutation | G | A | p.W192* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HHEX |
| 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 HHEX |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HHEX |
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RelatedDrugs for HHEX |
| 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 HHEX |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| HHEX | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| HHEX | C0015695 | Fatty Liver | 1 | CTD_human |
| HHEX | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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