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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 TBL1XR1 |
 Gene summary |
| Gene information | Gene symbol | TBL1XR1 | Gene ID | 79718 |
| Gene name | TBL1X receptor 1 | |
| Synonyms | C21|DC42|IRA1|MRD41|TBLR1 | |
| Cytomap | 3q26.32 | |
| Type of gene | protein-coding | |
| Description | F-box-like/WD repeat-containing protein TBL1XR1TBL1-related protein 1nuclear receptor co-repressor/HDAC3 complex subunitnuclear receptor corepressor/HDAC3 complex subunit TBLR1transducin beta like 1 X-linked receptor 1 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A0D9SEW5, A0A0D9SF25, A0A0D9SF63, A0A0D9SFI2, A0A0D9SFS8, A0A1B0GUU2, A0A1B0GVH3, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| TBL1XR1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12628926 |
| TBL1XR1 | GO:0045893 | positive regulation of transcription, DNA-templated | 18193033 |
| TBL1XR1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 18193033 |
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Gene structures and expression levels for TBL1XR1 |
| 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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ENSG00000177565
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000457928.6 | TBL1XR1-214:protein_coding:TBL1XR1 | 5.077881e+01 | 1.016793e+00 | 1.498758e-04 | 1.044480e-03 |
| CB | UP | ENST00000631253.2 | TBL1XR1-222:nonsense_mediated_decay:TBL1XR1 | 9.875138e+00 | 1.097565e+00 | 2.009227e-03 | 9.252575e-03 |
| CB | UP | ENST00000437738.5 | TBL1XR1-211:protein_coding:TBL1XR1 | 2.723967e+00 | 1.030059e+00 | 6.345876e-03 | 2.393561e-02 |
| 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 TBL1XR1 |
| 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_107551 | chr3 | 177064979:177065022:177086965:177087041:177098466:177098493 | 177086965:177087041 |
| exon_skip_109282 | chr3 | 177049997:177050138:177050478:177050610:177051504:177051535 | 177050478:177050610 |
| exon_skip_133451 | chr3 | 177053878:177053918:177079827:177079945:177098466:177098493 | 177079827:177079945 |
| exon_skip_177164 | chr3 | 177064979:177065022:177086965:177087041:177098466:177098541 | 177086965:177087041 |
| exon_skip_185682 | chr3 | 177064979:177065022:177079827:177079945:177098466:177098493 | 177079827:177079945 |
| exon_skip_222946 | chr3 | 177064920:177065022:177086965:177087041:177098466:177098541 | 177086965:177087041 |
| exon_skip_246109 | chr3 | 177064979:177065022:177091151:177091180:177098466:177098493 | 177091151:177091180 |
| exon_skip_251151 | chr3 | 177034198:177034325:177038098:177038172:177038313:177038428 | 177038098:177038172 |
| exon_skip_26691 | chr3 | 177053773:177053918:177064920:177065022:177079827:177079945 | 177064920:177065022 |
| exon_skip_281907 | chr3 | 177047300:177047397:177047486:177047549:177049997:177050138 | 177047486:177047549 |
| exon_skip_284740 | chr3 | 177034198:177034325:177037637:177037842:177038098:177038172 | 177037637:177037842 |
| exon_skip_290965 | chr3 | 177051701:177051726:177053773:177053918:177064920:177065022 | 177053773:177053918 |
| exon_skip_292435 | chr3 | 177064920:177065022:177086965:177087041:177098466:177098493 | 177086965:177087041 |
| exon_skip_292934 | chr3 | 177053773:177053918:177079827:177079945:177098466:177098493 | 177079827:177079945 |
| exon_skip_382 | chr3 | 177064920:177065022:177091151:177091180:177098466:177098493 | 177091151:177091180 |
| exon_skip_59088 | chr3 | 177053878:177053918:177064920:177065022:177079827:177079945 | 177064920:177065022 |
| exon_skip_62194 | chr3 | 177053878:177053918:177064920:177065022:177098466:177098493 | 177064920:177065022 |
| exon_skip_66769 | chr3 | 177098466:177098541:177160871:177160988:177197121:177197192 | 177160871:177160988 |
| exon_skip_84583 | chr3 | 177098466:177098541:177131363:177131449:177197121:177197192 | 177131363:177131449 |
| 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 TBL1XR1 |
| 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 |
| ENST00000430069 | 177064920 | 177065022 | 3UTR-3CDS |
| ENST00000457928 | 177064920 | 177065022 | 3UTR-3CDS |
| ENST00000430069 | 177053773 | 177053918 | Frame-shift |
| ENST00000457928 | 177053773 | 177053918 | Frame-shift |
| ENST00000430069 | 177038098 | 177038172 | In-frame |
| ENST00000457928 | 177038098 | 177038172 | 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 |
| ENST00000430069 | 177064920 | 177065022 | 3UTR-3CDS |
| ENST00000457928 | 177064920 | 177065022 | 3UTR-3CDS |
| 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 |
| ENST00000430069 | 177064920 | 177065022 | 3UTR-3CDS |
| ENST00000457928 | 177064920 | 177065022 | 3UTR-3CDS |
| ENST00000430069 | 177047486 | 177047549 | Frame-shift |
| ENST00000457928 | 177047486 | 177047549 | Frame-shift |
| ENST00000430069 | 177050478 | 177050610 | Frame-shift |
| ENST00000457928 | 177050478 | 177050610 | Frame-shift |
| ENST00000430069 | 177038098 | 177038172 | In-frame |
| ENST00000457928 | 177038098 | 177038172 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TBL1XR1 |
p-ENSG00000177565_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 |
| ENST00000430069 | 7965 | 514 | 177038098 | 177038172 | 1308 | 1381 | 349 | 373 |
| ENST00000457928 | 4118 | 514 | 177038098 | 177038172 | 1445 | 1518 | 349 | 373 |
| 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 |
| ENST00000430069 | 7965 | 514 | 177038098 | 177038172 | 1308 | 1381 | 349 | 373 |
| ENST00000457928 | 4118 | 514 | 177038098 | 177038172 | 1445 | 1518 | 349 | 373 |
| 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 |
| Q9BZK7 | 349 | 373 | 352 | 357 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 373 | 352 | 357 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 373 | 361 | 368 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 373 | 361 | 368 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 373 | 371 | 377 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 373 | 371 | 377 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 373 | 2 | 514 | Chain | ID=PRO_0000051266;Note=F-box-like/WD repeat-containing protein TBL1XR1 |
| Q9BZK7 | 349 | 373 | 2 | 514 | Chain | ID=PRO_0000051266;Note=F-box-like/WD repeat-containing protein TBL1XR1 |
| Q9BZK7 | 349 | 373 | 347 | 386 | Repeat | Note=WD 5 |
| Q9BZK7 | 349 | 373 | 347 | 386 | Repeat | Note=WD 5 |
| 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 |
| Q9BZK7 | 349 | 373 | 352 | 357 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 373 | 352 | 357 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 373 | 361 | 368 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 373 | 361 | 368 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 373 | 371 | 377 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 373 | 371 | 377 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 373 | 2 | 514 | Chain | ID=PRO_0000051266;Note=F-box-like/WD repeat-containing protein TBL1XR1 |
| Q9BZK7 | 349 | 373 | 2 | 514 | Chain | ID=PRO_0000051266;Note=F-box-like/WD repeat-containing protein TBL1XR1 |
| Q9BZK7 | 349 | 373 | 347 | 386 | Repeat | Note=WD 5 |
| Q9BZK7 | 349 | 373 | 347 | 386 | Repeat | Note=WD 5 |
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3'-UTR located exon skipping events that lost miRNA binding sites in TBL1XR1 |
| 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 TBL1XR1 |
| - 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 TBL1XR1 |
| 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 TBL1XR1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| TC | exon_skip_66769 | rs12490455 | chr3:177192789 | 1.016236e-04 | 1.660384e-02 |
| HCC | exon_skip_66769 | rs7426956 | chr3:177177049 | 6.131786e-09 | 1.570702e-06 |
| HCC | exon_skip_66769 | rs12490455 | chr3:177192789 | 8.738845e-09 | 2.169188e-06 |
| HCC | exon_skip_66769 | rs13081843 | chr3:177180486 | 1.007252e-08 | 2.468922e-06 |
| HCC | exon_skip_66769 | rs13081903 | chr3:177180624 | 1.007252e-08 | 2.468922e-06 |
| HCC | exon_skip_66769 | rs7611092 | chr3:177194746 | 1.345752e-08 | 3.220096e-06 |
| HCC | exon_skip_66769 | rs12493005 | chr3:177195111 | 1.345752e-08 | 3.220096e-06 |
| HCC | exon_skip_66769 | rs6443440 | chr3:177206619 | 1.702168e-08 | 4.005901e-06 |
| HCC | exon_skip_66769 | rs6806386 | chr3:177201518 | 3.651852e-07 | 6.512315e-05 |
| HCC | exon_skip_66769 | rs6772872 | chr3:177202738 | 3.651852e-07 | 6.512315e-05 |
| HCC | exon_skip_66769 | rs6443434 | chr3:177202684 | 5.087970e-07 | 8.890534e-05 |
| HCC | exon_skip_66769 | rs12489569 | chr3:177147900 | 2.074081e-04 | 1.670763e-02 |
| PCC | exon_skip_66769 | rs7611092 | chr3:177194746 | 2.059880e-04 | 3.046018e-02 |
| PCC | exon_skip_66769 | rs12493005 | chr3:177195111 | 2.059880e-04 | 3.046018e-02 |
| PCC | exon_skip_66769 | rs12490455 | chr3:177192789 | 2.234015e-04 | 3.261146e-02 |
| PCC | exon_skip_66769 | rs1201289 | chr3:177104888 | 3.284583e-04 | 4.382524e-02 |
| PCC | exon_skip_66769 | rs7426956 | chr3:177177049 | 3.813022e-04 | 4.916609e-02 |
| PCC | exon_skip_66769 | rs13081843 | chr3:177180486 | 3.813022e-04 | 4.916609e-02 |
| PCC | exon_skip_66769 | rs13081903 | chr3:177180624 | 3.813022e-04 | 4.916609e-02 |
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Correlation with RNA binding proteins (RBPs) for TBL1XR1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | ESRP1 | exon_skip_62194 | -5.693846e-01 | 1.936409e-03 |
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RelatedDrugs for TBL1XR1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TBL1XR1 |
| 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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