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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 BTBD7 |
 Gene summary |
| Gene information | Gene symbol | BTBD7 | Gene ID | 55727 |
| Gene name | BTB domain containing 7 | |
| Synonyms | FUP1 | |
| Cytomap | 14q32.12 | |
| Type of gene | protein-coding | |
| Description | BTB/POZ domain-containing protein 7BTB (POZ) domain containing 7 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9P203 | |
| Context | PubMed: BTBD7 [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 BTBD7 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 BTBD7 |
| 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 BTBD7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_115374 | 14 | 93712170:93712632:93714821:93715000:93717808:93717998 | 93714821:93715000 | ENSG00000011114.10 | ENST00000554565.1,ENST00000355125.3,ENST00000553975.1,ENST00000393170.2,ENST00000334746.5 |
| exon_skip_115375 | 14 | 93717808:93717998:93719992:93720136:93723540:93723701 | 93719992:93720136 | ENSG00000011114.10 | ENST00000554565.1,ENST00000355125.3,ENST00000553975.1,ENST00000393170.2,ENST00000334746.5 |
| exon_skip_115376 | 14 | 93719992:93720136:93723540:93723701:93727947:93728023 | 93723540:93723701 | ENSG00000011114.10 | ENST00000554565.1,ENST00000355125.3,ENST00000334746.5 |
| exon_skip_115377 | 14 | 93723540:93723701:93727947:93728023:93730130:93730339 | 93727947:93728023 | ENSG00000011114.10 | ENST00000554565.1,ENST00000334746.5,ENST00000554644.1 |
| exon_skip_115380 | 14 | 93727947:93728023:93730130:93730339:93760203:93760274 | 93730130:93730339 | ENSG00000011114.10 | ENST00000334746.5,ENST00000554644.1 |
| exon_skip_115381 | 14 | 93727947:93728023:93730130:93730339:93799165:93799367 | 93730130:93730339 | ENSG00000011114.10 | ENST00000554565.1 |
| exon_skip_115384 | 14 | 93730130:93730339:93760203:93761283:93762315:93762503 | 93760203:93761283 | ENSG00000011114.10 | ENST00000334746.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BTBD7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_115373 | 14 | 93708383:93709434:93712170:93712632:93714821:93715000 | 93712170:93712632 | ENSG00000011114.10 | ENST00000355125.3,ENST00000334746.5,ENST00000554565.1,ENST00000553975.1,ENST00000393170.2 |
| exon_skip_115374 | 14 | 93712170:93712632:93714821:93715000:93717808:93717998 | 93714821:93715000 | ENSG00000011114.10 | ENST00000355125.3,ENST00000334746.5,ENST00000554565.1,ENST00000553975.1,ENST00000393170.2 |
| exon_skip_115375 | 14 | 93717808:93717998:93719992:93720136:93723540:93723701 | 93719992:93720136 | ENSG00000011114.10 | ENST00000355125.3,ENST00000334746.5,ENST00000554565.1,ENST00000553975.1,ENST00000393170.2 |
| exon_skip_115376 | 14 | 93719992:93720136:93723540:93723701:93727947:93728023 | 93723540:93723701 | ENSG00000011114.10 | ENST00000355125.3,ENST00000334746.5,ENST00000554565.1 |
| exon_skip_115377 | 14 | 93723540:93723701:93727947:93728023:93730130:93730339 | 93727947:93728023 | ENSG00000011114.10 | ENST00000334746.5,ENST00000554565.1,ENST00000554644.1 |
| exon_skip_115380 | 14 | 93727947:93728023:93730130:93730339:93760203:93760274 | 93730130:93730339 | ENSG00000011114.10 | ENST00000334746.5,ENST00000554644.1 |
| exon_skip_115381 | 14 | 93727947:93728023:93730130:93730339:93799165:93799367 | 93730130:93730339 | ENSG00000011114.10 | ENST00000554565.1 |
| exon_skip_115384 | 14 | 93730130:93730339:93760203:93761283:93762315:93762503 | 93760203:93761283 | ENSG00000011114.10 | ENST00000334746.5 |
| 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 BTBD7 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for BTBD7 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for BTBD7 |
| - 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. |
BTBD7_LUAD_exon_skip_115375_psi_boxplot.png |
BTBD7_LUAD_exon_skip_115384_psi_boxplot.png |
BTBD7_READ_exon_skip_115384_psi_boxplot.png |
BTBD7_SKCM_exon_skip_115384_psi_boxplot.png |
BTBD7_STAD_exon_skip_115375_psi_boxplot.png |
BTBD7_STAD_exon_skip_115384_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 |
| COAD | TCGA-F4-6703-01 | exon_skip_115375 | 93719993 | 93720136 | 93720048 | 93720048 | Frame_Shift_Del | T | - | p.N566fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_115376 | 93723541 | 93723701 | 93723648 | 93723648 | Frame_Shift_Del | T | - | p.R502fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_115376 | 93723541 | 93723701 | 93723648 | 93723648 | Frame_Shift_Del | T | - | p.R502fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_115376 | 93723541 | 93723701 | 93723675 | 93723675 | Frame_Shift_Del | G | - | p.H492fs |
| COAD | TCGA-AM-5820-01 | exon_skip_115380 exon_skip_115381 | 93730131 | 93730339 | 93730184 | 93730184 | Frame_Shift_Del | A | - | p.Y440fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_115380 exon_skip_115381 | 93730131 | 93730339 | 93730184 | 93730184 | Frame_Shift_Del | A | - | p.Y440fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_115380 exon_skip_115381 | 93730131 | 93730339 | 93730184 | 93730184 | Frame_Shift_Del | A | - | p.Y440fs |
| STAD | TCGA-BR-4184-01 | exon_skip_115380 exon_skip_115381 | 93730131 | 93730339 | 93730184 | 93730184 | Frame_Shift_Del | A | - | p.Y440fs |
| STAD | TCGA-BR-7707-01 | exon_skip_115380 exon_skip_115381 | 93730131 | 93730339 | 93730184 | 93730184 | Frame_Shift_Del | A | - | p.Y440fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_115380 exon_skip_115381 | 93730131 | 93730339 | 93730193 | 93730193 | Frame_Shift_Del | C | - | p.D437fs |
| STAD | TCGA-BR-4201-01 | exon_skip_115384 | 93760204 | 93761283 | 93760502 | 93760502 | Frame_Shift_Del | A | - | p.R289fs |
| STAD | TCGA-CG-5726-01 | exon_skip_115384 | 93760204 | 93761283 | 93760502 | 93760502 | Frame_Shift_Del | A | - | p.F288fs |
| STAD | TCGA-CG-5726-01 | exon_skip_115384 | 93760204 | 93761283 | 93760502 | 93760502 | Frame_Shift_Del | A | - | p.R289fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_115384 | 93760204 | 93761283 | 93760606 | 93760606 | Frame_Shift_Del | A | - | p.S255fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_115384 | 93760204 | 93761283 | 93760606 | 93760606 | Frame_Shift_Del | A | - | p.S255fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_115384 | 93760204 | 93761283 | 93760822 | 93760822 | Frame_Shift_Del | T | - | p.I182fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_115384 | 93760204 | 93761283 | 93760865 | 93760865 | Frame_Shift_Del | A | - | p.F167fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_115384 | 93760204 | 93761283 | 93761163 | 93761163 | Frame_Shift_Del | T | - | p.K69fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_115384 | 93760204 | 93761283 | 93761170 | 93761170 | Frame_Shift_Del | G | - | p.L66fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_115384 | 93760204 | 93761283 | 93761193 | 93761193 | Frame_Shift_Del | T | - | p.K58fs |
| PRAD | TCGA-HC-7213-01 | exon_skip_115384 | 93760204 | 93761283 | 93761193 | 93761193 | Frame_Shift_Del | T | - | p.K58fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_115384 | 93760204 | 93761283 | 93761193 | 93761193 | Frame_Shift_Del | T | - | p.K58fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_115384 | 93760204 | 93761283 | 93761210 | 93761210 | Frame_Shift_Del | T | - | p.K52fs |
| STAD | TCGA-BR-8372-01 | exon_skip_115375 | 93719993 | 93720136 | 93720047 | 93720048 | Frame_Shift_Ins | - | T | p.N566fs |
| STAD | TCGA-BR-8372-01 | exon_skip_115375 | 93719993 | 93720136 | 93720048 | 93720049 | Frame_Shift_Ins | - | T | p.N566fs |
| STAD | TCGA-F1-6874-01 | exon_skip_115384 | 93760204 | 93761283 | 93760864 | 93760865 | Frame_Shift_Ins | - | A | p.K168_T169delinsX |
| STAD | TCGA-F1-6874-01 | exon_skip_115384 | 93760204 | 93761283 | 93760865 | 93760866 | Frame_Shift_Ins | - | A | p.F167fs |
| BLCA | TCGA-4Z-AA7N-01 | exon_skip_115384 | 93760204 | 93761283 | 93761192 | 93761193 | Frame_Shift_Ins | - | T | p.K58fs |
| BLCA | TCGA-HQ-A5NE-01 | exon_skip_115384 | 93760204 | 93761283 | 93761192 | 93761193 | Frame_Shift_Ins | - | T | p.K58fs |
| LUAD | TCGA-95-7567-01 | exon_skip_115384 | 93760204 | 93761283 | 93761192 | 93761193 | Frame_Shift_Ins | - | T | p.K58fs |
| UCEC | TCGA-D1-A174-01 | exon_skip_115384 | 93760204 | 93761283 | 93761192 | 93761193 | Frame_Shift_Ins | - | T | p.K58fs |
| LIHC | TCGA-ED-A459-01 | exon_skip_115374 | 93714822 | 93715000 | 93714872 | 93714872 | Nonsense_Mutation | G | A | p.R691* |
| LIHC | TCGA-ED-A459-01 | exon_skip_115374 | 93714822 | 93715000 | 93714872 | 93714872 | Nonsense_Mutation | G | A | p.R691X |
| READ | TCGA-EI-6917-01 | exon_skip_115374 | 93714822 | 93715000 | 93714872 | 93714872 | Nonsense_Mutation | G | A | p.R691X |
| ESCA | TCGA-L5-A8NU-01 | exon_skip_115376 | 93723541 | 93723701 | 93723588 | 93723588 | Nonsense_Mutation | G | A | p.R521* |
| ESCA | TCGA-L5-A8NU-01 | exon_skip_115376 | 93723541 | 93723701 | 93723588 | 93723588 | Nonsense_Mutation | G | A | p.R521X |
| PAAD | TCGA-IB-7651-01 | exon_skip_115380 exon_skip_115381 | 93730131 | 93730339 | 93730244 | 93730244 | Nonsense_Mutation | G | A | p.R420* |
| READ | TCGA-EI-6917-01 | exon_skip_115384 | 93760204 | 93761283 | 93760501 | 93760501 | Nonsense_Mutation | G | A | p.R289X |
| SKCM | TCGA-EE-A2GM-06 | exon_skip_115384 | 93760204 | 93761283 | 93760501 | 93760501 | Nonsense_Mutation | G | A | p.R289* |
| UCEC | TCGA-D1-A16X-01 | exon_skip_115384 | 93760204 | 93761283 | 93760918 | 93760918 | Nonsense_Mutation | C | A | p.E150* |
| PAAD | TCGA-HZ-A8P0-01 | exon_skip_115384 | 93760204 | 93761283 | 93761248 | 93761248 | Nonsense_Mutation | C | A | p.E40* |
| LUAD | TCGA-86-6851-01 | exon_skip_115375 | 93719993 | 93720136 | 93719992 | 93719992 | Splice_Site | C | - | p.K584_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-F1-6874-01 |
| Cancer type: STAD | |
| ESID: exon_skip_115384 | |
| Skipped exon start: 93760204 | |
| Skipped exon end: 93761283 | |
| Mutation start: 93760864 | |
| Mutation end: 93760865 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.K168_T169delinsX | |
| Sample: TCGA-F1-6874-01 |
| Cancer type: STAD | |
| ESID: exon_skip_115384 | |
| Skipped exon start: 93760204 | |
| Skipped exon end: 93761283 | |
| Mutation start: 93760865 | |
| Mutation end: 93760866 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.F167fs | |
exon_skip_115384_STAD_TCGA-F1-6874-01.png | |
exon_skip_13071_STAD_TCGA-F1-6874-01.png | |
exon_skip_18752_STAD_TCGA-F1-6874-01.png | |
exon_skip_25091_STAD_TCGA-F1-6874-01.png | |
exon_skip_289262_STAD_TCGA-F1-6874-01.png | |
exon_skip_30081_STAD_TCGA-F1-6874-01.png | |
exon_skip_35193_STAD_TCGA-F1-6874-01.png | |
exon_skip_376457_STAD_TCGA-F1-6874-01.png | |
exon_skip_377858_STAD_TCGA-F1-6874-01.png | |
exon_skip_457165_STAD_TCGA-F1-6874-01.png | |
exon_skip_457524_STAD_TCGA-F1-6874-01.png | |
exon_skip_483956_STAD_TCGA-F1-6874-01.png | |
exon_skip_69788_STAD_TCGA-F1-6874-01.png | |
exon_skip_77254_STAD_TCGA-F1-6874-01.png | |
 | Sample: TCGA-IB-7651-01 |
| Cancer type: PAAD | |
| ESID: exon_skip_115381 | |
| Skipped exon start: 93730131 | |
| Skipped exon end: 93730339 | |
| Mutation start: 93730244 | |
| Mutation end: 93730244 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.R420* | |
exon_skip_113241_PAAD_TCGA-IB-7651-01.png | |
exon_skip_115380_PAAD_TCGA-IB-7651-01.png | |
exon_skip_124564_PAAD_TCGA-IB-7651-01.png | |
exon_skip_135806_PAAD_TCGA-IB-7651-01.png | |
exon_skip_139341_PAAD_TCGA-IB-7651-01.png | |
exon_skip_153733_PAAD_TCGA-IB-7651-01.png | |
exon_skip_155805_PAAD_TCGA-IB-7651-01.png | |
exon_skip_18053_PAAD_TCGA-IB-7651-01.png | |
exon_skip_18056_PAAD_TCGA-IB-7651-01.png | |
exon_skip_23067_PAAD_TCGA-IB-7651-01.png | |
exon_skip_287059_PAAD_TCGA-IB-7651-01.png | |
exon_skip_294631_PAAD_TCGA-IB-7651-01.png | |
exon_skip_298512_PAAD_TCGA-IB-7651-01.png | |
exon_skip_306900_PAAD_TCGA-IB-7651-01.png | |
exon_skip_307723_PAAD_TCGA-IB-7651-01.png | |
exon_skip_315960_PAAD_TCGA-IB-7651-01.png | |
exon_skip_324675_PAAD_TCGA-IB-7651-01.png | |
exon_skip_330351_PAAD_TCGA-IB-7651-01.png | |
exon_skip_334330_PAAD_TCGA-IB-7651-01.png | |
exon_skip_341784_PAAD_TCGA-IB-7651-01.png | |
exon_skip_343314_PAAD_TCGA-IB-7651-01.png | |
exon_skip_348329_PAAD_TCGA-IB-7651-01.png | |
exon_skip_354232_PAAD_TCGA-IB-7651-01.png | |
exon_skip_370626_PAAD_TCGA-IB-7651-01.png | |
exon_skip_377740_PAAD_TCGA-IB-7651-01.png | |
exon_skip_385032_PAAD_TCGA-IB-7651-01.png | |
exon_skip_390031_PAAD_TCGA-IB-7651-01.png | |
exon_skip_422548_PAAD_TCGA-IB-7651-01.png | |
exon_skip_424536_PAAD_TCGA-IB-7651-01.png | |
exon_skip_431753_PAAD_TCGA-IB-7651-01.png | |
exon_skip_432982_PAAD_TCGA-IB-7651-01.png | |
exon_skip_435489_PAAD_TCGA-IB-7651-01.png | |
exon_skip_435729_PAAD_TCGA-IB-7651-01.png | |
exon_skip_441705_PAAD_TCGA-IB-7651-01.png | |
exon_skip_448879_PAAD_TCGA-IB-7651-01.png | |
exon_skip_468347_PAAD_TCGA-IB-7651-01.png | |
exon_skip_494000_PAAD_TCGA-IB-7651-01.png | |
exon_skip_494029_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499410_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499695_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499697_PAAD_TCGA-IB-7651-01.png | |
exon_skip_79905_PAAD_TCGA-IB-7651-01.png | |
exon_skip_80096_PAAD_TCGA-IB-7651-01.png | |
exon_skip_95924_PAAD_TCGA-IB-7651-01.png | |
 | Sample: TCGA-AM-5820-01 |
| Cancer type: COAD | |
| ESID: exon_skip_115381 | |
| Skipped exon start: 93730131 | |
| Skipped exon end: 93730339 | |
| Mutation start: 93730184 | |
| Mutation end: 93730184 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.Y440fs | |
exon_skip_115380_COAD_TCGA-AM-5820-01.png | |
exon_skip_353131_COAD_TCGA-AM-5820-01.png | |
exon_skip_353132_COAD_TCGA-AM-5820-01.png | |
exon_skip_378789_COAD_TCGA-AM-5820-01.png | |
exon_skip_434039_COAD_TCGA-AM-5820-01.png | |
exon_skip_434040_COAD_TCGA-AM-5820-01.png | |
exon_skip_444819_COAD_TCGA-AM-5820-01.png | |
exon_skip_457351_COAD_TCGA-AM-5820-01.png | |
exon_skip_457353_COAD_TCGA-AM-5820-01.png | |
exon_skip_457357_COAD_TCGA-AM-5820-01.png | |
exon_skip_476604_COAD_TCGA-AM-5820-01.png | |
exon_skip_476606_COAD_TCGA-AM-5820-01.png | |
exon_skip_47704_COAD_TCGA-AM-5820-01.png | |
exon_skip_56024_COAD_TCGA-AM-5820-01.png | |
 | Sample: TCGA-86-6851-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_115375 | |
| Skipped exon start: 93719993 | |
| Skipped exon end: 93720136 | |
| Mutation start: 93719992 | |
| Mutation end: 93719992 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.K584_splice | |
exon_skip_115375_LUAD_TCGA-86-6851-01.png | |
exon_skip_42139_LUAD_TCGA-86-6851-01.png | |
exon_skip_489149_LUAD_TCGA-86-6851-01.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 |
| SNUC2A_LARGE_INTESTINE | 93719993 | 93720136 | 93720048 | 93720048 | Frame_Shift_Del | T | - | p.N566fs |
| SNUC2B_LARGE_INTESTINE | 93719993 | 93720136 | 93720048 | 93720048 | Frame_Shift_Del | T | - | p.N566fs |
| OC316_OVARY | 93760204 | 93761283 | 93761193 | 93761193 | Frame_Shift_Del | T | - | p.K58fs |
| HEC151_ENDOMETRIUM | 93760204 | 93761283 | 93761193 | 93761193 | Frame_Shift_Del | T | - | p.K58fs |
| HEC59_ENDOMETRIUM | 93760204 | 93761283 | 93761193 | 93761193 | Frame_Shift_Del | T | - | p.K58fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93760204 | 93761283 | 93761193 | 93761193 | Frame_Shift_Del | T | - | p.K58fs |
| SNGM_ENDOMETRIUM | 93760204 | 93761283 | 93761193 | 93761193 | Frame_Shift_Del | T | - | p.K58fs |
| SNU520_STOMACH | 93760204 | 93761283 | 93761193 | 93761193 | Frame_Shift_Del | T | - | p.K58fs |
| SKOV3_OVARY | 93760204 | 93761283 | 93761193 | 93761193 | Frame_Shift_Del | T | - | p.K58fs |
| LS411N_LARGE_INTESTINE | 93760204 | 93761283 | 93761193 | 93761193 | Frame_Shift_Del | T | - | p.K58fs |
| MFE319_ENDOMETRIUM | 93760204 | 93761283 | 93761193 | 93761193 | Frame_Shift_Del | T | - | p.K58fs |
| SNU407_LARGE_INTESTINE | 93760204 | 93761283 | 93761193 | 93761193 | Frame_Shift_Del | T | - | p.K58fs |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93760204 | 93761283 | 93761193 | 93761193 | Frame_Shift_Del | T | - | p.K58fs |
| OC314_OVARY | 93760204 | 93761283 | 93761193 | 93761193 | Frame_Shift_Del | T | - | p.K58fs |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93760204 | 93761283 | 93761193 | 93761193 | Frame_Shift_Del | T | - | p.K58fs |
| HEC6_ENDOMETRIUM | 93719993 | 93720136 | 93720047 | 93720048 | Frame_Shift_Ins | - | T | p.N566fs |
| HEC151_ENDOMETRIUM | 93727948 | 93728023 | 93727982 | 93727983 | Frame_Shift_Ins | - | C | p.G471fs |
| DV90_LUNG | 93760204 | 93761283 | 93761192 | 93761193 | Frame_Shift_Ins | - | T | p.K58fs |
| RL952_ENDOMETRIUM | 93760204 | 93761283 | 93761192 | 93761193 | Frame_Shift_Ins | - | T | p.K58fs |
| EN_ENDOMETRIUM | 93760204 | 93761283 | 93761192 | 93761193 | Frame_Shift_Ins | - | T | p.K58fs |
| CW2_LARGE_INTESTINE | 93760204 | 93761283 | 93761192 | 93761193 | Frame_Shift_Ins | - | T | p.K58fs |
| ARH77_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93714822 | 93715000 | 93714950 | 93714950 | Missense_Mutation | G | A | p.R665W |
| SNU1040_LARGE_INTESTINE | 93714822 | 93715000 | 93714950 | 93714950 | Missense_Mutation | G | A | p.R665W |
| HEC151_ENDOMETRIUM | 93719993 | 93720136 | 93720045 | 93720045 | Missense_Mutation | G | A | p.A567V |
| COLO320_LARGE_INTESTINE | 93719993 | 93720136 | 93720121 | 93720121 | Missense_Mutation | T | A | p.I542F |
| LOVO_LARGE_INTESTINE | 93719993 | 93720136 | 93720121 | 93720121 | Missense_Mutation | T | A | p.I542F |
| LS1034_LARGE_INTESTINE | 93719993 | 93720136 | 93720121 | 93720121 | Missense_Mutation | T | A | p.I542F |
| MEWO_SKIN | 93719993 | 93720136 | 93720121 | 93720121 | Missense_Mutation | T | A | p.I542F |
| NCIH2052_PLEURA | 93719993 | 93720136 | 93720121 | 93720121 | Missense_Mutation | T | A | p.I542F |
| NCIH378_LUNG | 93719993 | 93720136 | 93720121 | 93720121 | Missense_Mutation | T | A | p.I542F |
| NCIH660_PROSTATE | 93723541 | 93723701 | 93723650 | 93723650 | Missense_Mutation | T | C | p.K500R |
| HCC366_LUNG | 93723541 | 93723701 | 93723656 | 93723656 | Missense_Mutation | C | T | p.G498D |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93730131 | 93730339 | 93730138 | 93730138 | Missense_Mutation | T | C | p.Y455C |
| ESS1_ENDOMETRIUM | 93730131 | 93730339 | 93730195 | 93730195 | Missense_Mutation | G | A | p.S436L |
| SNU387_LIVER | 93730131 | 93730339 | 93730243 | 93730243 | Missense_Mutation | C | T | p.R420Q |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93730131 | 93730339 | 93730251 | 93730251 | Missense_Mutation | C | A | p.W417C |
| NCIH1836_LUNG | 93730131 | 93730339 | 93730303 | 93730303 | Missense_Mutation | T | C | p.D400G |
| LB1047EBV_MATCHED_NORMAL_TISSUE | 93730131 | 93730339 | 93730303 | 93730303 | Missense_Mutation | T | A | p.D400V |
| JHUEM7_ENDOMETRIUM | 93760204 | 93761283 | 93760221 | 93760221 | Missense_Mutation | A | C | p.F382C |
| OC316_OVARY | 93760204 | 93761283 | 93760253 | 93760253 | Missense_Mutation | C | A | p.M371I |
| OC314_OVARY | 93760204 | 93761283 | 93760253 | 93760253 | Missense_Mutation | C | A | p.M371I |
| LXF289_LUNG | 93760204 | 93761283 | 93760284 | 93760284 | Missense_Mutation | T | G | p.K361T |
| NCIH69_LUNG | 93760204 | 93761283 | 93760384 | 93760384 | Missense_Mutation | T | A | p.I328L |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 93760204 | 93761283 | 93760389 | 93760389 | Missense_Mutation | G | T | p.T326K |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93760204 | 93761283 | 93760389 | 93760389 | Missense_Mutation | G | T | p.T326K |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93760204 | 93761283 | 93760389 | 93760389 | Missense_Mutation | G | T | p.T326K |
| NCIH2291_LUNG | 93760204 | 93761283 | 93760420 | 93760420 | Missense_Mutation | C | G | p.D316H |
| NCIH661_LUNG | 93760204 | 93761283 | 93760515 | 93760515 | Missense_Mutation | C | G | p.R284P |
| CCK81_LARGE_INTESTINE | 93760204 | 93761283 | 93760515 | 93760515 | Missense_Mutation | C | A | p.R284L |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 93760204 | 93761283 | 93760528 | 93760528 | Missense_Mutation | C | T | p.V280I |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93760204 | 93761283 | 93760528 | 93760528 | Missense_Mutation | C | T | p.V280I |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93760204 | 93761283 | 93760532 | 93760532 | Missense_Mutation | C | A | p.K278N |
| UACC62_SKIN | 93760204 | 93761283 | 93760579 | 93760579 | Missense_Mutation | A | C | p.F263V |
| 2313287_STOMACH | 93760204 | 93761283 | 93760654 | 93760654 | Missense_Mutation | G | A | p.R238C |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 93760204 | 93761283 | 93760672 | 93760672 | Missense_Mutation | A | G | p.S232P |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93760204 | 93761283 | 93760672 | 93760672 | Missense_Mutation | A | G | p.S232P |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93760204 | 93761283 | 93760672 | 93760672 | Missense_Mutation | A | G | p.S232P |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 93760204 | 93761283 | 93760809 | 93760809 | Missense_Mutation | T | C | p.N186S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93760204 | 93761283 | 93760809 | 93760809 | Missense_Mutation | T | C | p.N186S |
| MEWO_SKIN | 93760204 | 93761283 | 93760848 | 93760848 | Missense_Mutation | G | A | p.S173F |
| NCIH2342_LUNG | 93760204 | 93761283 | 93760886 | 93760886 | Missense_Mutation | C | A | p.L160F |
| DOV13_OVARY | 93760204 | 93761283 | 93760942 | 93760942 | Missense_Mutation | T | C | p.T142A |
| OCUBM_BREAST | 93760204 | 93761283 | 93760950 | 93760950 | Missense_Mutation | T | A | p.K139M |
| MET2B | 93760204 | 93761283 | 93760966 | 93760966 | Missense_Mutation | C | A | p.D134Y |
| SNU175_LARGE_INTESTINE | 93760204 | 93761283 | 93761073 | 93761073 | Missense_Mutation | A | C | p.V98G |
| SW900_LUNG | 93760204 | 93761283 | 93761125 | 93761125 | Missense_Mutation | C | A | p.D81Y |
| OV7_OVARY | 93760204 | 93761283 | 93761148 | 93761148 | Missense_Mutation | C | T | p.R73H |
| LS123_LARGE_INTESTINE | 93760204 | 93761283 | 93761173 | 93761173 | Missense_Mutation | T | C | p.T65A |
| NCIH2110_LUNG | 93760204 | 93761283 | 93761260 | 93761260 | Missense_Mutation | C | T | p.G36S |
| COLO792_SKIN | 93760204 | 93761283 | 93761273 | 93761274 | Missense_Mutation | GG | AA | p.S31F |
| COLO792_SKIN | 93760204 | 93761283 | 93761274 | 93761274 | Missense_Mutation | G | A | p.S31F |
| HT115_LARGE_INTESTINE | 93714822 | 93715000 | 93714872 | 93714872 | Nonsense_Mutation | G | A | p.R691* |
| HEC251_ENDOMETRIUM | 93719993 | 93720136 | 93720025 | 93720025 | Nonsense_Mutation | G | A | p.R574* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BTBD7 |
| 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 BTBD7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BTBD7 |
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RelatedDrugs for BTBD7 |
| 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 BTBD7 |
| 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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