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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 BTBD16 |
 Gene summary |
| Gene information | Gene symbol | BTBD16 | Gene ID | 118663 |
| Gene name | BTB domain containing 16 | |
| Synonyms | C10orf87 | |
| Cytomap | 10q26.13 | |
| Type of gene | protein-coding | |
| Description | BTB/POZ domain-containing protein 16 | |
| Modification date | 20180519 | |
| UniProtAcc | Q32M84 | |
| Context | PubMed: BTBD16 [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 BTBD16 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 BTBD16 |
| 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 BTBD16 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_45580 | 10 | 124034554:124034614:124036302:124036454:124043365:124043439 | 124036302:124036454 | ENSG00000138152.7 | ENST00000368994.2 |
| exon_skip_45581 | 10 | 124034554:124034614:124036305:124036454:124043365:124043439 | 124036305:124036454 | ENSG00000138152.7 | ENST00000260723.4 |
| exon_skip_45582 | 10 | 124049423:124049513:124050594:124050709:124057282:124057352 | 124050594:124050709 | ENSG00000138152.7 | ENST00000368994.2,ENST00000260723.4 |
| exon_skip_45600 | 10 | 124057282:124057352:124058518:124058649:124066703:124066823 | 124058518:124058649 | ENSG00000138152.7 | ENST00000368994.2,ENST00000260723.4 |
| exon_skip_45604 | 10 | 124058518:124058649:124066703:124066823:124088994:124089086 | 124066703:124066823 | ENSG00000138152.7 | ENST00000368994.2,ENST00000260723.4 |
| exon_skip_45608 | 10 | 124066703:124066823:124088994:124089086:124090690:124090773 | 124088994:124089086 | ENSG00000138152.7 | ENST00000368994.2,ENST00000260723.4 |
| exon_skip_45611 | 10 | 124090690:124090773:124091950:124092028:124094395:124094494 | 124091950:124092028 | ENSG00000138152.7 | ENST00000368994.2,ENST00000260723.4 |
| exon_skip_45618 | 10 | 124091481:124091773:124091950:124092028:124094395:124094494 | 124091950:124092028 | ENSG00000138152.7 | ENST00000495370.2 |
| exon_skip_45623 | 10 | 124091950:124092028:124094395:124094494:124096008:124096137 | 124094395:124094494 | ENSG00000138152.7 | ENST00000368994.2,ENST00000260723.4,ENST00000495370.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BTBD16 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_45580 | 10 | 124034554:124034614:124036302:124036454:124043365:124043439 | 124036302:124036454 | ENSG00000138152.7 | ENST00000368994.2 |
| exon_skip_45581 | 10 | 124034554:124034614:124036305:124036454:124043365:124043439 | 124036305:124036454 | ENSG00000138152.7 | ENST00000260723.4 |
| exon_skip_45582 | 10 | 124049423:124049513:124050594:124050709:124057282:124057352 | 124050594:124050709 | ENSG00000138152.7 | ENST00000260723.4,ENST00000368994.2 |
| exon_skip_45600 | 10 | 124057282:124057352:124058518:124058649:124066703:124066823 | 124058518:124058649 | ENSG00000138152.7 | ENST00000260723.4,ENST00000368994.2 |
| exon_skip_45604 | 10 | 124058518:124058649:124066703:124066823:124088994:124089086 | 124066703:124066823 | ENSG00000138152.7 | ENST00000260723.4,ENST00000368994.2 |
| exon_skip_45608 | 10 | 124066703:124066823:124088994:124089086:124090690:124090773 | 124088994:124089086 | ENSG00000138152.7 | ENST00000260723.4,ENST00000368994.2 |
| exon_skip_45611 | 10 | 124090690:124090773:124091950:124092028:124094395:124094494 | 124091950:124092028 | ENSG00000138152.7 | ENST00000260723.4,ENST00000368994.2 |
| exon_skip_45618 | 10 | 124091481:124091773:124091950:124092028:124094395:124094494 | 124091950:124092028 | ENSG00000138152.7 | ENST00000495370.2 |
| exon_skip_45623 | 10 | 124091950:124092028:124094395:124094494:124096008:124096137 | 124094395:124094494 | ENSG00000138152.7 | ENST00000260723.4,ENST00000368994.2,ENST00000495370.2 |
| 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 BTBD16 |
| 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 |
| ENST00000260723 | 124036305 | 124036454 | Frame-shift |
| ENST00000260723 | 124050594 | 124050709 | Frame-shift |
| ENST00000260723 | 124058518 | 124058649 | Frame-shift |
| ENST00000260723 | 124088994 | 124089086 | Frame-shift |
| ENST00000260723 | 124066703 | 124066823 | In-frame |
| ENST00000260723 | 124091950 | 124092028 | In-frame |
| ENST00000260723 | 124094395 | 124094494 | 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 |
| ENST00000260723 | 124036305 | 124036454 | Frame-shift |
| ENST00000260723 | 124050594 | 124050709 | Frame-shift |
| ENST00000260723 | 124058518 | 124058649 | Frame-shift |
| ENST00000260723 | 124088994 | 124089086 | Frame-shift |
| ENST00000260723 | 124066703 | 124066823 | In-frame |
| ENST00000260723 | 124091950 | 124092028 | In-frame |
| ENST00000260723 | 124094395 | 124094494 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BTBD16 |
| 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 |
| ENST00000260723 | 1866 | 506 | 124066703 | 124066823 | 1043 | 1162 | 264 | 303 |
| ENST00000260723 | 1866 | 506 | 124091950 | 124092028 | 1338 | 1415 | 362 | 388 |
| ENST00000260723 | 1866 | 506 | 124094395 | 124094494 | 1416 | 1514 | 388 | 421 |
| 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 |
| ENST00000260723 | 1866 | 506 | 124066703 | 124066823 | 1043 | 1162 | 264 | 303 |
| ENST00000260723 | 1866 | 506 | 124091950 | 124092028 | 1338 | 1415 | 362 | 388 |
| ENST00000260723 | 1866 | 506 | 124094395 | 124094494 | 1416 | 1514 | 388 | 421 |
| 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 |
| Q32M84 | 264 | 303 | 1 | 506 | Chain | ID=PRO_0000247121;Note=BTB/POZ domain-containing protein 16 |
| Q32M84 | 362 | 388 | 1 | 506 | Chain | ID=PRO_0000247121;Note=BTB/POZ domain-containing protein 16 |
| Q32M84 | 388 | 421 | 1 | 506 | Chain | ID=PRO_0000247121;Note=BTB/POZ domain-containing protein 16 |
| 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 |
| Q32M84 | 264 | 303 | 1 | 506 | Chain | ID=PRO_0000247121;Note=BTB/POZ domain-containing protein 16 |
| Q32M84 | 362 | 388 | 1 | 506 | Chain | ID=PRO_0000247121;Note=BTB/POZ domain-containing protein 16 |
| Q32M84 | 388 | 421 | 1 | 506 | Chain | ID=PRO_0000247121;Note=BTB/POZ domain-containing protein 16 |
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SNVs in the skipped exons for BTBD16 |
| - 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 |
| COAD | TCGA-AZ-4615-01 | exon_skip_45604 | 124066704 | 124066823 | 124066813 | 124066813 | Frame_Shift_Del | T | - | p.T300fs |
| STAD | TCGA-CG-5721-01 | exon_skip_45604 | 124066704 | 124066823 | 124066813 | 124066813 | Frame_Shift_Del | T | - | p.T300fs |
| STAD | TCGA-CG-5723-01 | exon_skip_45604 | 124066704 | 124066823 | 124066813 | 124066813 | Frame_Shift_Del | T | - | p.T300fs |
| UCEC | TCGA-A5-A0GA-01 | exon_skip_45604 | 124066704 | 124066823 | 124066813 | 124066813 | Frame_Shift_Del | T | - | p.F301fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_45604 | 124066704 | 124066823 | 124066813 | 124066813 | Frame_Shift_Del | T | - | p.F301fs |
| GBM | TCGA-14-0740-01 | exon_skip_45604 | 124066704 | 124066823 | 124066797 | 124066797 | Nonsense_Mutation | T | A | p.Y295* |
| BLCA | TCGA-G2-A2EF-01 | exon_skip_45581 exon_skip_45580 | 124036306 | 124036454 | 124036305 | 124036305 | Splice_Site | G | A | p.H7_splice |
| CHOL | TCGA-W5-AA2Q-01 | exon_skip_45581 exon_skip_45580 | 124036306 | 124036454 | 124036305 | 124036305 | Splice_Site | G | A | . |
| DLBC | TCGA-G8-6325-01 | exon_skip_45581 exon_skip_45580 | 124036306 | 124036454 | 124036305 | 124036305 | 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 |
| T3M10_LUNG | 124058519 | 124058649 | 124058582 | 124058582 | Frame_Shift_Del | G | - | p.G243fs |
| UACC257_SKIN | 124036306 | 124036454 | 124036393 | 124036393 | Missense_Mutation | C | T | p.L36F |
| UACC257_SKIN | 124036303 | 124036454 | 124036393 | 124036393 | Missense_Mutation | C | T | p.L36F |
| NB17_AUTONOMIC_GANGLIA | 124050595 | 124050709 | 124050600 | 124050600 | Missense_Mutation | G | T | p.A161S |
| DU145_PROSTATE | 124050595 | 124050709 | 124050610 | 124050610 | Missense_Mutation | T | C | p.L164P |
| LNCAPCLONEFGC_PROSTATE | 124058519 | 124058649 | 124058557 | 124058557 | Missense_Mutation | G | C | p.W233C |
| LOVO_LARGE_INTESTINE | 124058519 | 124058649 | 124058588 | 124058588 | Missense_Mutation | A | G | p.T244A |
| SNU1_STOMACH | 124058519 | 124058649 | 124058600 | 124058600 | Missense_Mutation | C | T | p.L248F |
| HEC265_ENDOMETRIUM | 124094396 | 124094494 | 124094491 | 124094491 | Missense_Mutation | G | A | p.M420I |
| A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124088995 | 124089086 | 124089010 | 124089010 | Nonsense_Mutation | T | A | p.C309* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BTBD16 |
| 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 BTBD16 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BTBD16 |
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RelatedDrugs for BTBD16 |
| 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 BTBD16 |
| 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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