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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 BTRC |
 Gene summary |
| Gene information | Gene symbol | BTRC | Gene ID | 8945 |
| Gene name | beta-transducin repeat containing E3 ubiquitin protein ligase | |
| Synonyms | BETA-TRCP|FBW1A|FBXW1|FBXW1A|FWD1|bTrCP|bTrCP1|betaTrCP | |
| Cytomap | 10q24.32 | |
| Type of gene | protein-coding | |
| Description | F-box/WD repeat-containing protein 1AE3RSIkappaBF-box and WD repeats protein beta-TrCPF-box and WD-repeat protein 1Bbeta-TrCP1epididymis tissue protein Li 2apIkappaBalpha-E3 receptor subunit | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y297 | |
| Context | PubMed: BTRC [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 |
| BTRC | GO:0000209 | protein polyubiquitination | 12820959 |
| BTRC | GO:0006511 | ubiquitin-dependent protein catabolic process | 15448698 |
| BTRC | GO:0016567 | protein ubiquitination | 16885022 |
| BTRC | GO:0042752 | regulation of circadian rhythm | 15917222 |
| BTRC | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 15917222 |
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Exon skipping events across known transcript of Ensembl for BTRC 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 BTRC |
| 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 BTRC |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_44507 | 10 | 103113938:103113985:103190101:103190209:103239124:103239214 | 103190101:103190209 | ENSG00000166167.13 | ENST00000393441.4 |
| exon_skip_44508 | 10 | 103113938:103113985:103213257:103213313:103221737:103221815 | 103213257:103213313 | ENSG00000166167.13 | ENST00000465182.1 |
| exon_skip_44509 | 10 | 103113938:103113985:103221737:103221815:103239124:103239214 | 103221737:103221815 | ENSG00000166167.13 | ENST00000408038.2 |
| exon_skip_44510 | 10 | 103114290:103114366:103190101:103190209:103221737:103221815 | 103190101:103190209 | ENSG00000166167.13 | ENST00000370183.2 |
| exon_skip_44516 | 10 | 103190101:103190209:103221720:103221815:103239124:103239214 | 103221720:103221815 | ENSG00000166167.13 | ENST00000475200.1 |
| exon_skip_44517 | 10 | 103190101:103190209:103221737:103221815:103239124:103239214 | 103221737:103221815 | ENSG00000166167.13 | ENST00000370187.3,ENST00000370183.2 |
| exon_skip_44519 | 10 | 103221737:103221815:103239124:103239214:103281395:103281469 | 103239124:103239214 | ENSG00000166167.13 | ENST00000475200.1,ENST00000408038.2,ENST00000370187.3,ENST00000370183.2,ENST00000465182.1 |
| exon_skip_44520 | 10 | 103285769:103285956:103290993:103291090:103292051:103292189 | 103290993:103291090 | ENSG00000166167.13 | ENST00000393441.4,ENST00000408038.2,ENST00000370187.3 |
| exon_skip_44521 | 10 | 103298049:103298128:103310455:103310648:103312911:103317054 | 103310455:103310648 | ENSG00000166167.13 | ENST00000393441.4,ENST00000408038.2,ENST00000370187.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BTRC |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_44507 | 10 | 103113938:103113985:103190101:103190209:103239124:103239214 | 103190101:103190209 | ENSG00000166167.13 | ENST00000393441.4 |
| exon_skip_44508 | 10 | 103113938:103113985:103213257:103213313:103221737:103221815 | 103213257:103213313 | ENSG00000166167.13 | ENST00000465182.1 |
| exon_skip_44509 | 10 | 103113938:103113985:103221737:103221815:103239124:103239214 | 103221737:103221815 | ENSG00000166167.13 | ENST00000408038.2 |
| exon_skip_44510 | 10 | 103114290:103114366:103190101:103190209:103221737:103221815 | 103190101:103190209 | ENSG00000166167.13 | ENST00000370183.2 |
| exon_skip_44517 | 10 | 103190101:103190209:103221737:103221815:103239124:103239214 | 103221737:103221815 | ENSG00000166167.13 | ENST00000370187.3,ENST00000370183.2 |
| exon_skip_44519 | 10 | 103221737:103221815:103239124:103239214:103281395:103281469 | 103239124:103239214 | ENSG00000166167.13 | ENST00000370187.3,ENST00000475200.1,ENST00000408038.2,ENST00000465182.1,ENST00000370183.2 |
| exon_skip_44520 | 10 | 103285769:103285956:103290993:103291090:103292051:103292189 | 103290993:103291090 | ENSG00000166167.13 | ENST00000370187.3,ENST00000393441.4,ENST00000408038.2 |
| exon_skip_44521 | 10 | 103298049:103298128:103310455:103310648:103312911:103317054 | 103310455:103310648 | ENSG00000166167.13 | ENST00000370187.3,ENST00000393441.4,ENST00000408038.2 |
| 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 BTRC |
| 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 |
| ENST00000370187 | 103310455 | 103310648 | 3UTR-3CDS |
| ENST00000370187 | 103290993 | 103291090 | Frame-shift |
| ENST00000370187 | 103221737 | 103221815 | In-frame |
| ENST00000370187 | 103239124 | 103239214 | 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 |
| ENST00000370187 | 103310455 | 103310648 | 3UTR-3CDS |
| ENST00000370187 | 103290993 | 103291090 | Frame-shift |
| ENST00000370187 | 103221737 | 103221815 | In-frame |
| ENST00000370187 | 103239124 | 103239214 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BTRC |
| 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 |
| ENST00000370187 | 6151 | 605 | 103221737 | 103221815 | 275 | 352 | 52 | 78 |
| ENST00000370187 | 6151 | 605 | 103239124 | 103239214 | 353 | 442 | 78 | 108 |
| 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 |
| ENST00000370187 | 6151 | 605 | 103221737 | 103221815 | 275 | 352 | 52 | 78 |
| ENST00000370187 | 6151 | 605 | 103239124 | 103239214 | 353 | 442 | 78 | 108 |
| 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 |
| Q9Y297 | 52 | 78 | 17 | 52 | Alternative sequence | ID=VSP_006764;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10531035,ECO:0000303|PubMed:9660940;Dbxref=PMID:10531035,PMID:9660940 |
| Q9Y297 | 52 | 78 | 1 | 605 | Chain | ID=PRO_0000050980;Note=F-box/WD repeat-containing protein 1A |
| Q9Y297 | 78 | 108 | 1 | 605 | Chain | ID=PRO_0000050980;Note=F-box/WD repeat-containing protein 1A |
| 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 |
| Q9Y297 | 52 | 78 | 17 | 52 | Alternative sequence | ID=VSP_006764;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10531035,ECO:0000303|PubMed:9660940;Dbxref=PMID:10531035,PMID:9660940 |
| Q9Y297 | 52 | 78 | 1 | 605 | Chain | ID=PRO_0000050980;Note=F-box/WD repeat-containing protein 1A |
| Q9Y297 | 78 | 108 | 1 | 605 | Chain | ID=PRO_0000050980;Note=F-box/WD repeat-containing protein 1A |
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SNVs in the skipped exons for BTRC |
| - 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-DD-A39Y-01 | exon_skip_44520 | 103290994 | 103291090 | 103291010 | 103291010 | Frame_Shift_Del | A | - | p.K254fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_44520 | 103290994 | 103291090 | 103291040 | 103291040 | Frame_Shift_Del | C | - | p.P264fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_44520 | 103290994 | 103291090 | 103291048 | 103291048 | Frame_Shift_Del | T | - | p.S266fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_44521 | 103310456 | 103310648 | 103310472 | 103310472 | Frame_Shift_Del | T | - | p.V558fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_44521 | 103310456 | 103310648 | 103310472 | 103310472 | Frame_Shift_Del | T | - | p.V558fs |
| COAD | TCGA-A6-6780-01 | exon_skip_44521 | 103310456 | 103310648 | 103310573 | 103310573 | Frame_Shift_Del | C | - | p.E565fs |
| STAD | TCGA-BR-8363-01 | exon_skip_44521 | 103310456 | 103310648 | 103310573 | 103310573 | Frame_Shift_Del | C | - | p.E591fs |
| STAD | TCGA-CG-4442-01 | exon_skip_44521 | 103310456 | 103310648 | 103310573 | 103310573 | Frame_Shift_Del | C | - | p.E591fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_44521 | 103310456 | 103310648 | 103310573 | 103310573 | Frame_Shift_Del | C | - | p.P593fs |
| ACC | TCGA-PK-A5HB-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.DP591fs |
| ACC | TCGA-PK-A5HB-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.E555fs |
| ACC | TCGA-PK-A5HB-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.E591fs |
| KIRC | TCGA-A3-3313-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.DP591fs |
| KIRC | TCGA-A3-3316-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.DP591fs |
| KIRC | TCGA-A3-3322-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.DP591fs |
| KIRC | TCGA-A3-3374-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.DP591fs |
| KIRC | TCGA-A3-3382-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.DP591fs |
| KIRC | TCGA-AK-3427-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.DP591fs |
| KIRC | TCGA-AK-3440-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.DP591fs |
| KIRC | TCGA-AK-3443-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.DP591fs |
| LIHC | TCGA-DD-A3A8-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.DP591fs |
| LIHC | TCGA-DD-A3A8-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.E591fs |
| LUAD | TCGA-64-1678-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.E591fs |
| STAD | TCGA-BR-8372-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.E591fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.E591fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.E591fs |
| UCEC | TCGA-B5-A0K7-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.E591fs |
| UCEC | TCGA-BG-A0M3-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.E591fs |
| UCEC | TCGA-BG-A0M9-01 | exon_skip_44521 | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.E591fs |
| STAD | TCGA-BR-8372-01 | exon_skip_44521 | 103310456 | 103310648 | 103310573 | 103310574 | Frame_Shift_Ins | - | C | p.E591fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_44521 | 103310456 | 103310648 | 103310573 | 103310574 | Frame_Shift_Ins | - | C | p.E591fs |
| KIRP | TCGA-UZ-A9PL-01 | exon_skip_44507 exon_skip_44510 | 103190102 | 103190209 | 103190124 | 103190124 | Nonsense_Mutation | G | A | p.W24X |
| BRCA | TCGA-A8-A09A-01 | exon_skip_44507 exon_skip_44510 | 103190102 | 103190209 | 103190165 | 103190165 | Nonsense_Mutation | C | T | p.R38* |
| LUAD | TCGA-44-7670-01 | exon_skip_44509 exon_skip_44516 exon_skip_44517 | 103221721 | 103221815 | 103221745 | 103221745 | Nonsense_Mutation | C | A | p.S55* |
| LUAD | TCGA-44-7670-01 | exon_skip_44509 exon_skip_44516 exon_skip_44517 | 103221738 | 103221815 | 103221745 | 103221745 | Nonsense_Mutation | C | A | p.S55* |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_44509 exon_skip_44516 exon_skip_44517 | 103221721 | 103221815 | 103221813 | 103221813 | Nonsense_Mutation | C | T | p.Q78* |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_44509 exon_skip_44516 exon_skip_44517 | 103221738 | 103221815 | 103221813 | 103221813 | Nonsense_Mutation | C | T | p.Q78* |
| READ | TCGA-AG-A002-01 | exon_skip_44521 | 103310456 | 103310648 | 103310477 | 103310477 | Nonsense_Mutation | C | T | p.R524X |
| SKCM | TCGA-BF-A3DJ-01 | exon_skip_44521 | 103310456 | 103310648 | 103310477 | 103310477 | Nonsense_Mutation | C | T | p.R560* |
| - 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 |
| KM12_LARGE_INTESTINE | 103310456 | 103310648 | 103310573 | 103310573 | Frame_Shift_Del | C | - | p.P593fs |
| SNU407_LARGE_INTESTINE | 103310456 | 103310648 | 103310573 | 103310573 | Frame_Shift_Del | C | - | p.P593fs |
| HEC265_ENDOMETRIUM | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.P592fs |
| TGBC11TKB_STOMACH | 103310456 | 103310648 | 103310572 | 103310573 | Frame_Shift_Ins | - | C | p.P592fs |
| HEC251_ENDOMETRIUM | 103190102 | 103190209 | 103190145 | 103190145 | Missense_Mutation | C | T | p.A31V |
| NCIH748_LUNG | 103190102 | 103190209 | 103190166 | 103190166 | Missense_Mutation | G | T | p.R38L |
| DMS53_LUNG | 103239125 | 103239214 | 103239158 | 103239158 | Missense_Mutation | C | A | p.Q90K |
| GP2D_LARGE_INTESTINE | 103290994 | 103291090 | 103291065 | 103291065 | Missense_Mutation | A | G | p.Y272C |
| GP5D_LARGE_INTESTINE | 103290994 | 103291090 | 103291065 | 103291065 | Missense_Mutation | A | G | p.Y272C |
| HEC108_ENDOMETRIUM | 103310456 | 103310648 | 103310484 | 103310484 | Missense_Mutation | A | G | p.Q562R |
| OELE_OVARY | 103310456 | 103310648 | 103310577 | 103310577 | Missense_Mutation | C | T | p.P593L |
| NCIH1573_LUNG | 103310456 | 103310648 | 103310580 | 103310580 | Missense_Mutation | G | C | p.R594P |
| NCIH23_LUNG | 103310456 | 103310648 | 103310613 | 103310613 | Missense_Mutation | G | A | p.R605K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BTRC |
| 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 BTRC |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BTRC |
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RelatedDrugs for BTRC |
| 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 BTRC |
| 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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