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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 BTC |
 Gene summary |
| Gene information | Gene symbol | BTC | Gene ID | 685 |
| Gene name | betacellulin | |
| Synonyms | - | |
| Cytomap | 4q13.3 | |
| Type of gene | protein-coding | |
| Description | probetacellulin | |
| Modification date | 20180523 | |
| UniProtAcc | P35070 | |
| Context | PubMed: BTC [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 BTC 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 BTC |
| 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 BTC |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_430071 | 4 | 75673249:75673359:75675782:75675929:75681068:75681186 | 75675782:75675929 | ENSG00000174808.7 | ENST00000395743.3 |
| exon_skip_430074 | 4 | 75673249:75673359:75681068:75681186:75695267:75695366 | 75681068:75681186 | ENSG00000174808.7 | ENST00000512743.1 |
| exon_skip_430075 | 4 | 75675782:75675929:75681068:75681186:75695267:75695366 | 75681068:75681186 | ENSG00000174808.7 | ENST00000395743.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BTC |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_430071 | 4 | 75673249:75673359:75675782:75675929:75681068:75681186 | 75675782:75675929 | ENSG00000174808.7 | ENST00000395743.3 |
| exon_skip_430074 | 4 | 75673249:75673359:75681068:75681186:75695267:75695366 | 75681068:75681186 | ENSG00000174808.7 | ENST00000512743.1 |
| exon_skip_430075 | 4 | 75675782:75675929:75681068:75681186:75695267:75695366 | 75681068:75681186 | ENSG00000174808.7 | ENST00000395743.3 |
| 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 BTC |
| 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 |
| ENST00000395743 | 75681068 | 75681186 | Frame-shift |
| ENST00000395743 | 75675782 | 75675929 | 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 |
| ENST00000395743 | 75681068 | 75681186 | Frame-shift |
| ENST00000395743 | 75675782 | 75675929 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BTC |
| 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 |
| ENST00000395743 | 2833 | 178 | 75675782 | 75675929 | 643 | 789 | 94 | 142 |
| 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 |
| ENST00000395743 | 2833 | 178 | 75675782 | 75675929 | 643 | 789 | 94 | 142 |
| 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 |
| P35070 | 94 | 142 | 106 | 108 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IP0 |
| P35070 | 94 | 142 | 32 | 178 | Chain | ID=PRO_0000300685;Note=Probetacellulin |
| P35070 | 94 | 142 | 32 | 111 | Chain | ID=PRO_0000007490;Note=Betacellulin |
| P35070 | 94 | 142 | 95 | 104 | Disulfide bond | . |
| P35070 | 94 | 142 | 65 | 105 | Domain | Note=EGF-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| P35070 | 94 | 142 | 124 | 124 | Natural variant | ID=VAR_029308;Note=L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs11938093,PMID:15489334 |
| P35070 | 94 | 142 | 112 | 178 | Propeptide | ID=PRO_0000007491;Note=Removed in mature form;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P35070 | 94 | 142 | 32 | 118 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35070 | 94 | 142 | 140 | 178 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35070 | 94 | 142 | 119 | 139 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35070 | 94 | 142 | 101 | 104 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IOX |
| 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 |
| P35070 | 94 | 142 | 106 | 108 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IP0 |
| P35070 | 94 | 142 | 32 | 178 | Chain | ID=PRO_0000300685;Note=Probetacellulin |
| P35070 | 94 | 142 | 32 | 111 | Chain | ID=PRO_0000007490;Note=Betacellulin |
| P35070 | 94 | 142 | 95 | 104 | Disulfide bond | . |
| P35070 | 94 | 142 | 65 | 105 | Domain | Note=EGF-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| P35070 | 94 | 142 | 124 | 124 | Natural variant | ID=VAR_029308;Note=L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs11938093,PMID:15489334 |
| P35070 | 94 | 142 | 112 | 178 | Propeptide | ID=PRO_0000007491;Note=Removed in mature form;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P35070 | 94 | 142 | 32 | 118 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35070 | 94 | 142 | 140 | 178 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35070 | 94 | 142 | 119 | 139 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35070 | 94 | 142 | 101 | 104 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IOX |
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SNVs in the skipped exons for BTC |
| - 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-A3A0-01 | exon_skip_430075 exon_skip_430074 | 75681069 | 75681186 | 75681140 | 75681140 | Frame_Shift_Del | G | - | p.P70fs |
| - 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 |
| SCLC22H_LUNG | 75681069 | 75681186 | 75681110 | 75681110 | Frame_Shift_Del | C | - | p.G80fs |
| SCLC21H_LUNG | 75681069 | 75681186 | 75681110 | 75681110 | Frame_Shift_Del | C | - | p.G80fs |
| OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75681069 | 75681186 | 75681097 | 75681097 | Missense_Mutation | C | T | p.V85M |
| SNU216_STOMACH | 75681069 | 75681186 | 75681103 | 75681103 | Missense_Mutation | G | A | p.R83C |
| EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75681069 | 75681186 | 75681162 | 75681162 | Missense_Mutation | T | C | p.K63R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BTC |
| 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 BTC |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BTC |
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RelatedDrugs for BTC |
| 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 BTC |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BTC | C0036341 | Schizophrenia | 1 | PSYGENET |
| BTC | C0162568 | Erythropoietic Protoporphyria | 1 | CTD_human |
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