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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 MCF2 |
 Gene summary |
| Gene information | Gene symbol | MCF2 | Gene ID | 4168 |
| Gene name | MCF.2 cell line derived transforming sequence | |
| Synonyms | ARHGEF21|DBL | |
| Cytomap | Xq27.1 | |
| Type of gene | protein-coding | |
| Description | proto-oncogene DBLOncogene MCF2 (oncogene DBL)proto-oncogene MCF-2 | |
| Modification date | 20180522 | |
| UniProtAcc | P10911 | |
| Context | PubMed: MCF2 [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 MCF2 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 MCF2 |
| 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 MCF2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_516956 | X | 138692459:138692497:138695374:138695422:138697039:138697109 | 138695374:138695422 | ENSG00000101977.15 | ENST00000519895.1,ENST00000483690.1,ENST00000338585.6 |
| exon_skip_516957 | X | 138711853:138712003:138713553:138713670:138714493:138714613 | 138713553:138713670 | ENSG00000101977.15 | ENST00000370573.4,ENST00000414978.1,ENST00000370578.4,ENST00000370576.4,ENST00000519895.1,ENST00000520602.1,ENST00000338585.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MCF2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_516956 | X | 138692459:138692497:138695374:138695422:138697039:138697109 | 138695374:138695422 | ENSG00000101977.15 | ENST00000519895.1,ENST00000338585.6,ENST00000483690.1 |
| exon_skip_516957 | X | 138711853:138712003:138713553:138713670:138714493:138714613 | 138713553:138713670 | ENSG00000101977.15 | ENST00000520602.1,ENST00000370576.4,ENST00000370578.4,ENST00000414978.1,ENST00000519895.1,ENST00000370573.4,ENST00000338585.6 |
| 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 MCF2 |
| 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 |
| ENST00000370576 | 138713553 | 138713670 | 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 |
| ENST00000370576 | 138713553 | 138713670 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MCF2 |
| 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 |
| ENST00000370576 | 3705 | 925 | 138713553 | 138713670 | 382 | 498 | 57 | 96 |
| 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 |
| ENST00000370576 | 3705 | 925 | 138713553 | 138713670 | 382 | 498 | 57 | 96 |
| 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 MCF2 |
| - 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-A3CJ-01 | exon_skip_516957 | 138713554 | 138713670 | 138713609 | 138713609 | Frame_Shift_Del | G | - | p.P138fs |
| STAD | TCGA-BR-6452-01 | exon_skip_516957 | 138713554 | 138713670 | 138713569 | 138713569 | Nonsense_Mutation | C | T | p.W151X |
| STAD | TCGA-BR-6452-01 | exon_skip_516957 | 138713554 | 138713670 | 138713569 | 138713569 | Nonsense_Mutation | C | T | p.W91* |
| LUAD | TCGA-75-5126-01 | exon_skip_516957 | 138713554 | 138713670 | 138713553 | 138713553 | Splice_Site | C | A | p.N96_splice |
| - 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 |
| NCIH2066_LUNG | 138713554 | 138713670 | 138713569 | 138713569 | Missense_Mutation | C | A | p.W91C |
| NCIH2066_LUNG | 138713554 | 138713670 | 138713569 | 138713570 | Missense_Mutation | CC | AA | p.W91F |
| NCIH2066_LUNG | 138713554 | 138713670 | 138713570 | 138713570 | Missense_Mutation | C | A | p.W91L |
| NCIH1437_LUNG | 138713554 | 138713670 | 138713554 | 138713554 | Splice_Site | A | T | p.N96K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MCF2 |
| 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 MCF2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MCF2 |
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RelatedDrugs for MCF2 |
| 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 MCF2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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