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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 TBL1X |
 Gene summary |
| Gene information | Gene symbol | TBL1X | Gene ID | 6907 |
| Gene name | transducin beta like 1 X-linked | |
| Synonyms | EBI|SMAP55|TBL1 | |
| Cytomap | Xp22.31-p22.2 | |
| Type of gene | protein-coding | |
| Description | F-box-like/WD repeat-containing protein TBL1Xtransducin beta like 1X-linkedtransducin beta-like protein 1Xtransducin-beta-like protein 1, X-linked | |
| Modification date | 20180523 | |
| UniProtAcc | O60907 | |
| Context | PubMed: TBL1X [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 |
| TBL1X | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12628926 |
| TBL1X | GO:0045893 | positive regulation of transcription, DNA-templated | 18193033 |
| TBL1X | GO:0045944 | positive regulation of transcription by RNA polymerase II | 18193033 |
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Exon skipping events across known transcript of Ensembl for TBL1X 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 TBL1X |
| 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 TBL1X |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_509078 | X | 9433333:9433487:9469819:9469889:9608312:9608400 | 9469819:9469889 | ENSG00000101849.11 | ENST00000217964.7,ENST00000422314.1 |
| exon_skip_509080 | X | 9469819:9469889:9502939:9503074:9608312:9608400 | 9502939:9503074 | ENSG00000101849.11 | ENST00000380961.1 |
| exon_skip_509083 | X | 9469819:9469889:9608312:9608400:9622254:9622328 | 9608312:9608400 | ENSG00000101849.11 | ENST00000415293.1,ENST00000424279.1,ENST00000422314.1 |
| exon_skip_509087 | X | 9608312:9608400:9621584:9621729:9622254:9622328 | 9621584:9621729 | ENSG00000101849.11 | ENST00000441088.1,ENST00000407597.2,ENST00000536365.1,ENST00000217964.7,ENST00000452824.1 |
| exon_skip_509089 | X | 9608312:9608400:9622254:9622362:9652082:9652110 | 9622254:9622362 | ENSG00000101849.11 | ENST00000380961.1,ENST00000415293.1,ENST00000424279.1,ENST00000422314.1 |
| exon_skip_509092 | X | 9622254:9622362:9652082:9652228:9656056:9656077 | 9652082:9652228 | ENSG00000101849.11 | ENST00000380961.1,ENST00000415293.1,ENST00000407597.2,ENST00000536365.1,ENST00000424279.1,ENST00000217964.7 |
| exon_skip_509094 | X | 9652082:9652228:9656056:9656315:9659618:9659751 | 9656056:9656315 | ENSG00000101849.11 | ENST00000380961.1,ENST00000407597.2,ENST00000536365.1,ENST00000424279.1,ENST00000217964.7 |
| exon_skip_509095 | X | 9659618:9659751:9660152:9660294:9661188:9661252 | 9660152:9660294 | ENSG00000101849.11 | ENST00000380961.1,ENST00000407597.2,ENST00000536365.1,ENST00000424279.1,ENST00000217964.7 |
| exon_skip_509096 | X | 9665408:9665469:9673032:9673154:9677287:9677362 | 9673032:9673154 | ENSG00000101849.11 | ENST00000380961.1,ENST00000407597.2,ENST00000536365.1,ENST00000424279.1,ENST00000217964.7 |
| exon_skip_509098 | X | 9679650:9679816:9682941:9683043:9684259:9684302 | 9682941:9683043 | ENSG00000101849.11 | ENST00000380961.1,ENST00000407597.2,ENST00000536365.1,ENST00000424279.1,ENST00000217964.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TBL1X |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_509078 | X | 9433333:9433487:9469819:9469889:9608312:9608400 | 9469819:9469889 | ENSG00000101849.11 | ENST00000217964.7,ENST00000422314.1 |
| exon_skip_509080 | X | 9469819:9469889:9502939:9503074:9608312:9608400 | 9502939:9503074 | ENSG00000101849.11 | ENST00000380961.1 |
| exon_skip_509083 | X | 9469819:9469889:9608312:9608400:9622254:9622328 | 9608312:9608400 | ENSG00000101849.11 | ENST00000424279.1,ENST00000415293.1,ENST00000422314.1 |
| exon_skip_509087 | X | 9608312:9608400:9621584:9621729:9622254:9622328 | 9621584:9621729 | ENSG00000101849.11 | ENST00000407597.2,ENST00000536365.1,ENST00000441088.1,ENST00000217964.7,ENST00000452824.1 |
| exon_skip_509089 | X | 9608312:9608400:9622254:9622362:9652082:9652110 | 9622254:9622362 | ENSG00000101849.11 | ENST00000424279.1,ENST00000380961.1,ENST00000415293.1,ENST00000422314.1 |
| exon_skip_509092 | X | 9622254:9622362:9652082:9652228:9656056:9656077 | 9652082:9652228 | ENSG00000101849.11 | ENST00000407597.2,ENST00000424279.1,ENST00000536365.1,ENST00000380961.1,ENST00000415293.1,ENST00000217964.7 |
| exon_skip_509094 | X | 9652082:9652228:9656056:9656315:9659618:9659751 | 9656056:9656315 | ENSG00000101849.11 | ENST00000407597.2,ENST00000424279.1,ENST00000536365.1,ENST00000380961.1,ENST00000217964.7 |
| exon_skip_509095 | X | 9659618:9659751:9660152:9660294:9661188:9661252 | 9660152:9660294 | ENSG00000101849.11 | ENST00000407597.2,ENST00000424279.1,ENST00000536365.1,ENST00000380961.1,ENST00000217964.7 |
| exon_skip_509096 | X | 9665408:9665469:9673032:9673154:9677287:9677362 | 9673032:9673154 | ENSG00000101849.11 | ENST00000407597.2,ENST00000424279.1,ENST00000536365.1,ENST00000380961.1,ENST00000217964.7 |
| exon_skip_509098 | X | 9679650:9679816:9682941:9683043:9684259:9684302 | 9682941:9683043 | ENSG00000101849.11 | ENST00000407597.2,ENST00000424279.1,ENST00000536365.1,ENST00000380961.1,ENST00000217964.7 |
| 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 TBL1X |
| 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 |
| ENST00000217964 | 9621584 | 9621729 | 5CDS-5UTR |
| ENST00000407597 | 9621584 | 9621729 | 5CDS-5UTR |
| ENST00000217964 | 9469819 | 9469889 | 5UTR-5UTR |
| ENST00000217964 | 9652082 | 9652228 | Frame-shift |
| ENST00000407597 | 9652082 | 9652228 | Frame-shift |
| ENST00000217964 | 9656056 | 9656315 | Frame-shift |
| ENST00000407597 | 9656056 | 9656315 | Frame-shift |
| ENST00000217964 | 9660152 | 9660294 | Frame-shift |
| ENST00000407597 | 9660152 | 9660294 | Frame-shift |
| ENST00000217964 | 9673032 | 9673154 | Frame-shift |
| ENST00000407597 | 9673032 | 9673154 | Frame-shift |
| ENST00000217964 | 9682941 | 9683043 | In-frame |
| ENST00000407597 | 9682941 | 9683043 | 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 |
| ENST00000217964 | 9621584 | 9621729 | 5CDS-5UTR |
| ENST00000407597 | 9621584 | 9621729 | 5CDS-5UTR |
| ENST00000217964 | 9469819 | 9469889 | 5UTR-5UTR |
| ENST00000217964 | 9652082 | 9652228 | Frame-shift |
| ENST00000407597 | 9652082 | 9652228 | Frame-shift |
| ENST00000217964 | 9656056 | 9656315 | Frame-shift |
| ENST00000407597 | 9656056 | 9656315 | Frame-shift |
| ENST00000217964 | 9660152 | 9660294 | Frame-shift |
| ENST00000407597 | 9660152 | 9660294 | Frame-shift |
| ENST00000217964 | 9673032 | 9673154 | Frame-shift |
| ENST00000407597 | 9673032 | 9673154 | Frame-shift |
| ENST00000217964 | 9682941 | 9683043 | In-frame |
| ENST00000407597 | 9682941 | 9683043 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TBL1X |
| 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 |
| ENST00000217964 | 5883 | 577 | 9682941 | 9683043 | 2246 | 2347 | 535 | 569 |
| ENST00000407597 | 5613 | 577 | 9682941 | 9683043 | 1974 | 2075 | 535 | 569 |
| 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 |
| ENST00000217964 | 5883 | 577 | 9682941 | 9683043 | 2246 | 2347 | 535 | 569 |
| ENST00000407597 | 5613 | 577 | 9682941 | 9683043 | 1974 | 2075 | 535 | 569 |
| 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 |
| O60907 | 535 | 569 | 1 | 577 | Chain | ID=PRO_0000051263;Note=F-box-like/WD repeat-containing protein TBL1X |
| O60907 | 535 | 569 | 1 | 577 | Chain | ID=PRO_0000051263;Note=F-box-like/WD repeat-containing protein TBL1X |
| O60907 | 535 | 569 | 503 | 542 | Repeat | Note=WD 7 |
| O60907 | 535 | 569 | 503 | 542 | Repeat | Note=WD 7 |
| O60907 | 535 | 569 | 544 | 576 | Repeat | Note=WD 8 |
| O60907 | 535 | 569 | 544 | 576 | Repeat | Note=WD 8 |
| 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 |
| O60907 | 535 | 569 | 1 | 577 | Chain | ID=PRO_0000051263;Note=F-box-like/WD repeat-containing protein TBL1X |
| O60907 | 535 | 569 | 1 | 577 | Chain | ID=PRO_0000051263;Note=F-box-like/WD repeat-containing protein TBL1X |
| O60907 | 535 | 569 | 503 | 542 | Repeat | Note=WD 7 |
| O60907 | 535 | 569 | 503 | 542 | Repeat | Note=WD 7 |
| O60907 | 535 | 569 | 544 | 576 | Repeat | Note=WD 8 |
| O60907 | 535 | 569 | 544 | 576 | Repeat | Note=WD 8 |
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SNVs in the skipped exons for TBL1X |
| - 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. |
TBL1X_UCEC_exon_skip_509098_psi_boxplot.png |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_509089 | 9622255 | 9622362 | 9622264 | 9622264 | Frame_Shift_Del | C | - | p.S38fs |
| PRAD | TCGA-XK-AAJT-01 | exon_skip_509094 | 9656057 | 9656315 | 9656280 | 9656280 | Frame_Shift_Del | C | - | p.T194fs |
| COAD | TCGA-F4-6570-01 | exon_skip_509095 | 9660153 | 9660294 | 9660202 | 9660202 | Frame_Shift_Del | G | - | p.N215fs |
| KIRC | TCGA-MW-A4EC-01 | exon_skip_509095 | 9660153 | 9660294 | 9660202 | 9660202 | Frame_Shift_Del | G | - | p.N266fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_509096 | 9673033 | 9673154 | 9673071 | 9673071 | Frame_Shift_Del | T | - | p.F385fs |
| BRCA | TCGA-C8-A12P-01 | exon_skip_509087 | 9621585 | 9621729 | 9621720 | 9621720 | Nonsense_Mutation | C | T | p.R32* |
| SKCM | TCGA-W3-A825-06 | exon_skip_509094 | 9656057 | 9656315 | 9656150 | 9656150 | Nonsense_Mutation | C | T | p.R151* |
| SKCM | TCGA-FR-A7U9-06 | exon_skip_509095 | 9660153 | 9660294 | 9660291 | 9660291 | Nonsense_Mutation | G | A | p.W296* |
| BLCA | TCGA-UY-A78K-01 | exon_skip_509098 | 9682942 | 9683043 | 9682998 | 9682998 | Nonsense_Mutation | G | A | p.W554* |
| UCEC | TCGA-B5-A11R-01 | exon_skip_509098 | 9682942 | 9683043 | 9682941 | 9682941 | Splice_Site | G | A | e14-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-B5-A11R-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_509098 | |
| Skipped exon start: 9682942 | |
| Skipped exon end: 9683043 | |
| Mutation start: 9682941 | |
| Mutation end: 9682941 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: e14-1 | |
exon_skip_115426_UCEC_TCGA-B5-A11R-01.png | |
exon_skip_356643_UCEC_TCGA-B5-A11R-01.png | |
exon_skip_356644_UCEC_TCGA-B5-A11R-01.png | |
exon_skip_509098_UCEC_TCGA-B5-A11R-01.png | |
| - 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 |
| BICR78_UPPER_AERODIGESTIVE_TRACT | 9621585 | 9621729 | 9621643 | 9621643 | Missense_Mutation | G | A | p.G6D |
| GP2D_LARGE_INTESTINE | 9621585 | 9621729 | 9621685 | 9621685 | Missense_Mutation | C | T | p.A20V |
| ES3_BONE | 9621585 | 9621729 | 9621702 | 9621702 | Missense_Mutation | C | G | p.H26D |
| RL952_ENDOMETRIUM | 9622255 | 9622362 | 9622345 | 9622345 | Missense_Mutation | G | A | p.R65Q |
| OC316_OVARY | 9652083 | 9652228 | 9652121 | 9652121 | Missense_Mutation | C | G | p.H84D |
| OC314_OVARY | 9652083 | 9652228 | 9652121 | 9652121 | Missense_Mutation | C | G | p.H84D |
| SNU1040_LARGE_INTESTINE | 9656057 | 9656315 | 9656069 | 9656069 | Missense_Mutation | T | C | p.F124L |
| SKUT1_SOFT_TISSUE | 9656057 | 9656315 | 9656079 | 9656079 | Missense_Mutation | G | A | p.R127H |
| SNU175_LARGE_INTESTINE | 9656057 | 9656315 | 9656181 | 9656181 | Missense_Mutation | C | T | p.A161V |
| KYSE30_OESOPHAGUS | 9656057 | 9656315 | 9656181 | 9656181 | Missense_Mutation | C | T | p.A161V |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9656057 | 9656315 | 9656193 | 9656193 | Missense_Mutation | C | T | p.A165V |
| JHUEM7_ENDOMETRIUM | 9656057 | 9656315 | 9656246 | 9656246 | Missense_Mutation | T | C | p.S183P |
| HEC59_ENDOMETRIUM | 9660153 | 9660294 | 9660167 | 9660167 | Missense_Mutation | C | T | p.T255I |
| U118MG_CENTRAL_NERVOUS_SYSTEM | 9660153 | 9660294 | 9660200 | 9660200 | Missense_Mutation | A | C | p.N266T |
| NCCSTCK140_STOMACH | 9660153 | 9660294 | 9660206 | 9660206 | Missense_Mutation | G | A | p.G268D |
| NIHOVCAR3_OVARY | 9660153 | 9660294 | 9660248 | 9660248 | Missense_Mutation | G | A | p.G282D |
| HMC18_BREAST | 9673033 | 9673154 | 9673060 | 9673060 | Missense_Mutation | A | T | p.N381I |
| MRKNU1_BREAST | 9682942 | 9683043 | 9682957 | 9682957 | Missense_Mutation | C | T | p.H541Y |
| MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9682942 | 9683043 | 9682967 | 9682967 | Missense_Mutation | G | A | p.R544Q |
| FTC238_THYROID | 9660153 | 9660294 | 9660238 | 9660238 | Nonsense_Mutation | C | T | p.R279* |
| HEC59_ENDOMETRIUM | 9682942 | 9683043 | 9682966 | 9682966 | Nonsense_Mutation | C | T | p.R544* |
| SKUT1_SOFT_TISSUE | 9621585 | 9621729 | 9621729 | 9621729 | Splice_Site | G | T | p.E35* |
| MCC13_SKIN | 9656057 | 9656315 | 9656057 | 9656057 | Splice_Site | G | A | p.D120N |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9673033 | 9673154 | 9673034 | 9673034 | Splice_Site | C | A | p.A372A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TBL1X |
| 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 TBL1X |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBL1X |
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RelatedDrugs for TBL1X |
| 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 TBL1X |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TBL1X | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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