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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 THRA |
 Gene summary |
| Gene information | Gene symbol | THRA | Gene ID | 7067 |
| Gene name | thyroid hormone receptor alpha | |
| Synonyms | AR7|CHNG6|EAR7|ERB-T-1|ERBA|ERBA1|NR1A1|THRA1|THRA2|c-ERBA-1 | |
| Cytomap | 17q21.1 | |
| Type of gene | protein-coding | |
| Description | thyroid hormone receptor alphaEAR-7ERBA-related 7V-erbA-related protein 7c-erbA-alphanuclear receptor subfamily 1 group A member 1thyroid hormone receptor alpha 1thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homo | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 19427062(Study of thyroid hormone receptor alpha gene polymorphisms on Alzheimer's disease) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| THRA | GO:0006357 | regulation of transcription by RNA polymerase II | 18052923 |
| THRA | GO:0006366 | transcription by RNA polymerase II | 8710870|9653119 |
| THRA | GO:0009755 | hormone-mediated signaling pathway | 18052923 |
| THRA | GO:0017055 | negative regulation of RNA polymerase II transcriptional preinitiation complex assembly | 8524305 |
| THRA | GO:0045892 | negative regulation of transcription, DNA-templated | 8710870 |
| THRA | GO:2000143 | negative regulation of DNA-templated transcription, initiation | 8524305 |
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Gene structures and expression levels for THRA |
| 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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ENSG00000126351
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 THRA |
| 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_139362 | chr17 | 40084610:40084815:40086707:40086853:40088242:40088500 | 40086707:40086853 |
| exon_skip_150581 | chr17 | 40074192:40074541:40076871:40076938:40077508:40077558 | 40076871:40076938 |
| exon_skip_283946 | chr17 | 40076871:40076938:40077508:40077608:40083835:40083866 | 40077508:40077608 |
| exon_skip_48956 | chr17 | 40076913:40076938:40077508:40077608:40083835:40083866 | 40077508:40077608 |
| exon_skip_56118 | chr17 | 40084610:40084815:40086707:40086853:40088242:40088425 | 40086707:40086853 |
| 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 THRA |
| 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 |
| ENST00000264637 | 40077508 | 40077608 | Frame-shift |
| ENST00000394121 | 40077508 | 40077608 | Frame-shift |
| ENST00000264637 | 40086707 | 40086853 | In-frame |
| ENST00000394121 | 40086707 | 40086853 | 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 |
| ENST00000264637 | 40077508 | 40077608 | Frame-shift |
| ENST00000394121 | 40077508 | 40077608 | 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 |
| ENST00000264637 | 40076871 | 40076938 | Frame-shift |
| ENST00000394121 | 40076871 | 40076938 | Frame-shift |
| ENST00000264637 | 40077508 | 40077608 | Frame-shift |
| ENST00000394121 | 40077508 | 40077608 | Frame-shift |
| ENST00000264637 | 40086707 | 40086853 | In-frame |
| ENST00000394121 | 40086707 | 40086853 | In-frame |
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Infer the effects of exon skipping event on protein functional features for THRA |
p-ENSG00000126351_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 |
| ENST00000264637 | 2555 | 490 | 40086707 | 40086853 | 1158 | 1303 | 192 | 241 |
| ENST00000394121 | 2277 | 490 | 40086707 | 40086853 | 1134 | 1279 | 192 | 241 |
| 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 |
| ENST00000264637 | 2555 | 490 | 40086707 | 40086853 | 1158 | 1303 | 192 | 241 |
| ENST00000394121 | 2277 | 490 | 40086707 | 40086853 | 1134 | 1279 | 192 | 241 |
| 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 |
| P10827 | 192 | 241 | 196 | 198 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2H79 |
| P10827 | 192 | 241 | 196 | 198 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2H79 |
| P10827 | 192 | 241 | 228 | 228 | Binding site | Note=Thyroid hormone |
| P10827 | 192 | 241 | 228 | 228 | Binding site | Note=Thyroid hormone |
| P10827 | 192 | 241 | 1 | 490 | Chain | ID=PRO_0000053424;Note=Thyroid hormone receptor alpha |
| P10827 | 192 | 241 | 1 | 490 | Chain | ID=PRO_0000053424;Note=Thyroid hormone receptor alpha |
| P10827 | 192 | 241 | 163 | 407 | Domain | Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189 |
| P10827 | 192 | 241 | 163 | 407 | Domain | Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189 |
| P10827 | 192 | 241 | 212 | 234 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ILZ |
| P10827 | 192 | 241 | 212 | 234 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ILZ |
| P10827 | 192 | 241 | 237 | 240 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ILZ |
| P10827 | 192 | 241 | 237 | 240 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ILZ |
| 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 |
| P10827 | 192 | 241 | 196 | 198 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2H79 |
| P10827 | 192 | 241 | 196 | 198 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2H79 |
| P10827 | 192 | 241 | 228 | 228 | Binding site | Note=Thyroid hormone |
| P10827 | 192 | 241 | 228 | 228 | Binding site | Note=Thyroid hormone |
| P10827 | 192 | 241 | 1 | 490 | Chain | ID=PRO_0000053424;Note=Thyroid hormone receptor alpha |
| P10827 | 192 | 241 | 1 | 490 | Chain | ID=PRO_0000053424;Note=Thyroid hormone receptor alpha |
| P10827 | 192 | 241 | 163 | 407 | Domain | Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189 |
| P10827 | 192 | 241 | 163 | 407 | Domain | Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189 |
| P10827 | 192 | 241 | 212 | 234 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ILZ |
| P10827 | 192 | 241 | 212 | 234 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ILZ |
| P10827 | 192 | 241 | 237 | 240 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ILZ |
| P10827 | 192 | 241 | 237 | 240 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ILZ |
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3'-UTR located exon skipping events that lost miRNA binding sites in THRA |
| 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 THRA |
| - 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 THRA |
| 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 THRA |
| 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 THRA |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for THRA |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P10827 | approved|vet_approved | DB00279 | Liothyronine | small molecule | P10827 |
| P10827 | approved | DB00451 | Levothyroxine | small molecule | P10827 |
| P10827 | approved|investigational | DB00509 | Dextrothyroxine | small molecule | P10827 |
| P10827 | approved|investigational | DB01118 | Amiodarone | small molecule | P10827 |
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RelatedDiseases for THRA |
| 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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