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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 BTBD8 |
 Gene summary |
| Gene information | Gene symbol | BTBD8 | Gene ID | 284697 |
| Gene name | BTB domain containing 8 | |
| Synonyms | - | |
| Cytomap | 1p22.1 | |
| Type of gene | protein-coding | |
| Description | BTB/POZ domain-containing protein 8BTB (POZ) domain containing 8double BTB/POZ domain containing protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q5XKL5 | |
| Context | PubMed: BTBD8 [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 |
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Exon skipping events across known transcript of Ensembl for BTBD8 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 BTBD8 |
| 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 BTBD8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7811 | 1 | 92546094:92546277:92554254:92554452:92568029:92568226 | 92554254:92554452 | ENSG00000189195.5 | ENST00000342818.3,ENST00000540648.1 |
| exon_skip_7813 | 1 | 92568029:92568226:92573440:92573558:92595243:92595333 | 92573440:92573558 | ENSG00000189195.5 | ENST00000342818.3,ENST00000540648.1,ENST00000370382.3 |
| exon_skip_7815 | 1 | 92604906:92604987:92606671:92606768:92612736:92612825 | 92606671:92606768 | ENSG00000189195.5 | ENST00000342818.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BTBD8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7811 | 1 | 92546094:92546277:92554254:92554452:92568029:92568226 | 92554254:92554452 | ENSG00000189195.5 | ENST00000342818.3,ENST00000540648.1 |
| exon_skip_7813 | 1 | 92568029:92568226:92573440:92573558:92595243:92595333 | 92573440:92573558 | ENSG00000189195.5 | ENST00000370382.3,ENST00000342818.3,ENST00000540648.1 |
| exon_skip_7814 | 1 | 92595243:92595333:92604906:92604987:92612736:92612825 | 92604906:92604987 | ENSG00000189195.5 | ENST00000540648.1 |
| exon_skip_7815 | 1 | 92604906:92604987:92606671:92606768:92612736:92612825 | 92606671:92606768 | ENSG00000189195.5 | ENST00000342818.3 |
| 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 BTBD8 |
| 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 |
| ENST00000342818 | 92573440 | 92573558 | Frame-shift |
| ENST00000342818 | 92606671 | 92606768 | Frame-shift |
| ENST00000342818 | 92554254 | 92554452 | 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 |
| ENST00000342818 | 92573440 | 92573558 | Frame-shift |
| ENST00000342818 | 92606671 | 92606768 | Frame-shift |
| ENST00000342818 | 92554254 | 92554452 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BTBD8 |
| 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 |
| ENST00000342818 | 1425 | 378 | 92554254 | 92554452 | 386 | 583 | 50 | 115 |
| 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 |
| ENST00000342818 | 1425 | 378 | 92554254 | 92554452 | 386 | 583 | 50 | 115 |
| 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 |
| Q5XKL5 | 50 | 115 | 1 | 378 | Chain | ID=PRO_0000239224;Note=BTB/POZ domain-containing protein 8 |
| Q5XKL5 | 50 | 115 | 58 | 127 | Domain | Note=BTB 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00037 |
| Q5XKL5 | 50 | 115 | 60 | 60 | Natural variant | ID=VAR_048436;Note=V->I;Dbxref=dbSNP:rs34856868 |
| 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 |
| Q5XKL5 | 50 | 115 | 1 | 378 | Chain | ID=PRO_0000239224;Note=BTB/POZ domain-containing protein 8 |
| Q5XKL5 | 50 | 115 | 58 | 127 | Domain | Note=BTB 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00037 |
| Q5XKL5 | 50 | 115 | 60 | 60 | Natural variant | ID=VAR_048436;Note=V->I;Dbxref=dbSNP:rs34856868 |
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SNVs in the skipped exons for BTBD8 |
| - 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 |
| LIHC | TCGA-G3-A7M5-01 | exon_skip_7811 | 92554255 | 92554452 | 92554445 | 92554445 | Frame_Shift_Del | T | - | p.F114fs |
| LIHC | TCGA-G3-A7M5-01 | exon_skip_7811 | 92554255 | 92554452 | 92554445 | 92554445 | Frame_Shift_Del | T | - | p.T113fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_7813 | 92573441 | 92573558 | 92573525 | 92573525 | Frame_Shift_Del | T | - | p.I210fs |
| LUAD | TCGA-44-6774-01 | exon_skip_7811 | 92554255 | 92554452 | 92554451 | 92554451 | Nonsense_Mutation | C | T | p.Q116* |
| SKCM | TCGA-EE-A2MU-06 | exon_skip_7813 | 92573441 | 92573558 | 92573483 | 92573483 | Nonsense_Mutation | T | A | p.L196* |
| LGG | TCGA-DU-8158-01 | exon_skip_7815 | 92606672 | 92606768 | 92606709 | 92606709 | Nonsense_Mutation | G | T | p.G291* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_7815 | 92606672 | 92606768 | 92606763 | 92606763 | Nonsense_Mutation | C | T | p.Q309* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_7815 | 92606672 | 92606768 | 92606763 | 92606763 | Nonsense_Mutation | C | T | p.Q309X |
| CHOL | TCGA-W5-AA39-01 | exon_skip_7813 | 92573441 | 92573558 | 92573559 | 92573559 | Splice_Site | G | T | . |
| - 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 |
| CAL12T_LUNG | 92554255 | 92554452 | 92554314 | 92554314 | Missense_Mutation | A | G | p.K70R |
| MM386_SKIN | 92606672 | 92606768 | 92606743 | 92606743 | Missense_Mutation | G | A | p.R302K |
| JHUEM7_ENDOMETRIUM | 92606672 | 92606768 | 92606759 | 92606759 | Missense_Mutation | C | A | p.F307L |
| NCIH2170_LUNG | 92573441 | 92573558 | 92573557 | 92573557 | Splice_Site | A | T | p.R221W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BTBD8 |
| 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 BTBD8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BTBD8 |
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RelatedDrugs for BTBD8 |
| 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 BTBD8 |
| 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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