|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for MCF2L |
 Gene summary |
| Gene information | Gene symbol | MCF2L | Gene ID | 23263 |
| Gene name | MCF.2 cell line derived transforming sequence like | |
| Synonyms | ARHGEF14|DBS|OST | |
| Cytomap | 13q34 | |
| Type of gene | protein-coding | |
| Description | guanine nucleotide exchange factor DBSDBL's big sisterMCF2 transforming sequence-like protein | |
| Modification date | 20180519 | |
| UniProtAcc | O15068 | |
| Context | PubMed: MCF2L [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 |
Top |
Exon skipping events across known transcript of Ensembl for MCF2L 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. |
 |
Top |
Gene isoform structures and expression levels for MCF2L |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for MCF2L |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_101481 | 13 | 113556512:113556685:113571427:113571838:113610356:113612478 | 113571427:113571838 | ENSG00000126217.16 | ENST00000442625.1 |
| exon_skip_101485 | 13 | 113669076:113669160:113678957:113679072:113699584:113699636 | 113678957:113679072 | ENSG00000126217.16 | ENST00000375604.2,ENST00000421756.1,ENST00000375597.4,ENST00000535094.2,ENST00000409954.2,ENST00000397030.1,ENST00000434480.2,ENST00000375601.3,ENST00000423482.2,ENST00000375608.3,ENST00000442652.2 |
| exon_skip_101486 | 13 | 113679011:113679072:113699584:113699675:113714906:113715026 | 113699584:113699675 | ENSG00000126217.16 | ENST00000375604.2,ENST00000421756.1,ENST00000375597.4,ENST00000535094.2,ENST00000409954.2,ENST00000397030.1,ENST00000434480.2,ENST00000375601.3,ENST00000423482.2,ENST00000375608.3,ENST00000442652.2 |
| exon_skip_101493 | 13 | 113699584:113699675:113714906:113715026:113718617:113718625 | 113714906:113715026 | ENSG00000126217.16 | ENST00000375604.2,ENST00000421756.1,ENST00000375597.4,ENST00000535094.2,ENST00000409954.2,ENST00000423251.1,ENST00000397030.1,ENST00000434480.2,ENST00000375601.3,ENST00000423482.2,ENST00000375608.3,ENST00000442652.2 |
| exon_skip_101496 | 13 | 113719249:113719399:113720359:113720484:113724372:113724487 | 113720359:113720484 | ENSG00000126217.16 | ENST00000375604.2,ENST00000421756.1,ENST00000375597.4,ENST00000535094.2,ENST00000475524.1,ENST00000397030.1,ENST00000434480.2,ENST00000375601.3,ENST00000423482.2,ENST00000375608.3,ENST00000464800.1,ENST00000442652.2 |
| exon_skip_101499 | 13 | 113720359:113720484:113724372:113724487:113728757:113728877 | 113724372:113724487 | ENSG00000126217.16 | ENST00000375604.2,ENST00000421756.1,ENST00000375597.4,ENST00000535094.2,ENST00000475524.1,ENST00000397030.1,ENST00000434480.2,ENST00000375601.3,ENST00000423482.2,ENST00000375608.3,ENST00000442652.2 |
| exon_skip_101500 | 13 | 113732979:113733053:113735526:113735593:113736740:113736856 | 113735526:113735593 | ENSG00000126217.16 | ENST00000375604.2,ENST00000421756.1,ENST00000375597.4,ENST00000535094.2,ENST00000397030.1,ENST00000434480.2,ENST00000375601.3,ENST00000423482.2,ENST00000375608.3,ENST00000442652.2,ENST00000397017.2 |
| exon_skip_101502 | 13 | 113738311:113738381:113739205:113739298:113739399:113739492 | 113739205:113739298 | ENSG00000126217.16 | ENST00000375604.2,ENST00000421756.1,ENST00000375597.4,ENST00000535094.2,ENST00000397030.1,ENST00000434480.2,ENST00000375601.3,ENST00000423482.2,ENST00000375608.3,ENST00000442652.2,ENST00000397017.2 |
| exon_skip_101504 | 13 | 113744004:113744042:113744381:113744465:113745434:113745509 | 113744381:113744465 | ENSG00000126217.16 | ENST00000413354.1 |
| exon_skip_101505 | 13 | 113744004:113744042:113744381:113744474:113745434:113745509 | 113744381:113744474 | ENSG00000126217.16 | ENST00000453297.1 |
| exon_skip_101506 | 13 | 113744004:113744042:113744381:113744474:113748827:113748918 | 113744381:113744474 | ENSG00000126217.16 | ENST00000439475.1 |
| exon_skip_101509 | 13 | 113744004:113744042:113745434:113745509:113748827:113748918 | 113745434:113745509 | ENSG00000126217.16 | ENST00000420013.1,ENST00000397017.2 |
| exon_skip_101510 | 13 | 113744381:113744474:113745434:113745509:113748827:113748918 | 113745434:113745509 | ENSG00000126217.16 | ENST00000453297.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for MCF2L |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_101485 | 13 | 113669076:113669160:113678957:113679072:113699584:113699636 | 113678957:113679072 | ENSG00000126217.16 | ENST00000375608.3,ENST00000442652.2,ENST00000375604.2,ENST00000397030.1,ENST00000535094.2,ENST00000421756.1,ENST00000375601.3,ENST00000434480.2,ENST00000409954.2,ENST00000423482.2,ENST00000375597.4 |
| exon_skip_101486 | 13 | 113679011:113679072:113699584:113699675:113714906:113715026 | 113699584:113699675 | ENSG00000126217.16 | ENST00000375608.3,ENST00000442652.2,ENST00000375604.2,ENST00000397030.1,ENST00000535094.2,ENST00000421756.1,ENST00000375601.3,ENST00000434480.2,ENST00000409954.2,ENST00000423482.2,ENST00000375597.4 |
| exon_skip_101493 | 13 | 113699584:113699675:113714906:113715026:113718617:113718625 | 113714906:113715026 | ENSG00000126217.16 | ENST00000375608.3,ENST00000442652.2,ENST00000375604.2,ENST00000397030.1,ENST00000535094.2,ENST00000421756.1,ENST00000375601.3,ENST00000434480.2,ENST00000409954.2,ENST00000423482.2,ENST00000375597.4,ENST00000423251.1 |
| exon_skip_101496 | 13 | 113719249:113719399:113720359:113720484:113724372:113724487 | 113720359:113720484 | ENSG00000126217.16 | ENST00000375608.3,ENST00000442652.2,ENST00000375604.2,ENST00000397030.1,ENST00000535094.2,ENST00000421756.1,ENST00000375601.3,ENST00000434480.2,ENST00000423482.2,ENST00000375597.4,ENST00000464800.1,ENST00000475524.1 |
| exon_skip_101499 | 13 | 113720359:113720484:113724372:113724487:113728757:113728877 | 113724372:113724487 | ENSG00000126217.16 | ENST00000375608.3,ENST00000442652.2,ENST00000375604.2,ENST00000397030.1,ENST00000535094.2,ENST00000421756.1,ENST00000375601.3,ENST00000434480.2,ENST00000423482.2,ENST00000375597.4,ENST00000475524.1 |
| exon_skip_101500 | 13 | 113732979:113733053:113735526:113735593:113736740:113736856 | 113735526:113735593 | ENSG00000126217.16 | ENST00000375608.3,ENST00000442652.2,ENST00000375604.2,ENST00000397030.1,ENST00000535094.2,ENST00000421756.1,ENST00000375601.3,ENST00000434480.2,ENST00000423482.2,ENST00000375597.4,ENST00000397017.2 |
| exon_skip_101502 | 13 | 113738311:113738381:113739205:113739298:113739399:113739492 | 113739205:113739298 | ENSG00000126217.16 | ENST00000375608.3,ENST00000442652.2,ENST00000375604.2,ENST00000397030.1,ENST00000535094.2,ENST00000421756.1,ENST00000375601.3,ENST00000434480.2,ENST00000423482.2,ENST00000375597.4,ENST00000397017.2 |
| exon_skip_101504 | 13 | 113744004:113744042:113744381:113744465:113745434:113745509 | 113744381:113744465 | ENSG00000126217.16 | ENST00000413354.1 |
| exon_skip_101505 | 13 | 113744004:113744042:113744381:113744474:113745434:113745509 | 113744381:113744474 | ENSG00000126217.16 | ENST00000453297.1 |
| exon_skip_101506 | 13 | 113744004:113744042:113744381:113744474:113748827:113748918 | 113744381:113744474 | ENSG00000126217.16 | ENST00000439475.1 |
| exon_skip_101509 | 13 | 113744004:113744042:113745434:113745509:113748827:113748918 | 113745434:113745509 | ENSG00000126217.16 | ENST00000397017.2,ENST00000420013.1 |
| exon_skip_101510 | 13 | 113744381:113744474:113745434:113745509:113748827:113748918 | 113745434:113745509 | ENSG00000126217.16 | ENST00000453297.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for MCF2L |
| 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 |
| ENST00000375608 | 113678957 | 113679072 | Frame-shift |
| ENST00000375608 | 113699584 | 113699675 | Frame-shift |
| ENST00000375608 | 113720359 | 113720484 | Frame-shift |
| ENST00000375608 | 113724372 | 113724487 | Frame-shift |
| ENST00000375608 | 113735526 | 113735593 | Frame-shift |
| ENST00000375608 | 113714906 | 113715026 | In-frame |
| ENST00000375608 | 113739205 | 113739298 | 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 |
| ENST00000375608 | 113678957 | 113679072 | Frame-shift |
| ENST00000375608 | 113699584 | 113699675 | Frame-shift |
| ENST00000375608 | 113720359 | 113720484 | Frame-shift |
| ENST00000375608 | 113724372 | 113724487 | Frame-shift |
| ENST00000375608 | 113735526 | 113735593 | Frame-shift |
| ENST00000375608 | 113714906 | 113715026 | In-frame |
| ENST00000375608 | 113739205 | 113739298 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for MCF2L |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000375608 | 3665 | 1137 | 113714906 | 113715026 | 518 | 637 | 153 | 193 |
| ENST00000375608 | 3665 | 1137 | 113739205 | 113739298 | 2210 | 2302 | 717 | 748 |
| 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 |
| ENST00000375608 | 3665 | 1137 | 113714906 | 113715026 | 518 | 637 | 153 | 193 |
| ENST00000375608 | 3665 | 1137 | 113739205 | 113739298 | 2210 | 2302 | 717 | 748 |
| 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 |
Top |
SNVs in the skipped exons for MCF2L |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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_101485 | 113678958 | 113679072 | 113678964 | 113678964 | Frame_Shift_Del | G | - | p.R90fs |
| BLCA | TCGA-ZF-AA4X-01 | exon_skip_101499 | 113724373 | 113724487 | 113724431 | 113724431 | Nonsense_Mutation | C | T | p.Q347* |
| BRCA | TCGA-BH-A18U-01 | exon_skip_101486 | 113699585 | 113699675 | 113699676 | 113699676 | Splice_Site | G | T | e4+1 |
| - 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 |
| HEC108_ENDOMETRIUM | 113678958 | 113679072 | 113678963 | 113678963 | Missense_Mutation | C | T | p.R87W |
| JK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113678958 | 113679072 | 113679003 | 113679003 | Missense_Mutation | A | G | p.Y100C |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113699585 | 113699675 | 113699595 | 113699595 | Missense_Mutation | G | T | p.A127S |
| NCIH810_LUNG | 113699585 | 113699675 | 113699599 | 113699599 | Missense_Mutation | G | A | p.G128D |
| RH30_SOFT_TISSUE | 113699585 | 113699675 | 113699622 | 113699622 | Missense_Mutation | G | T | p.D136Y |
| SJRH30_SOFT_TISSUE | 113699585 | 113699675 | 113699622 | 113699622 | Missense_Mutation | G | T | p.D136Y |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113699585 | 113699675 | 113699668 | 113699668 | Missense_Mutation | G | A | p.R151H |
| HEC108_ENDOMETRIUM | 113714907 | 113715026 | 113714934 | 113714934 | Missense_Mutation | G | A | p.V163I |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113714907 | 113715026 | 113714994 | 113714994 | Missense_Mutation | T | C | p.F183L |
| C2BBE1_LARGE_INTESTINE | 113720360 | 113720484 | 113720368 | 113720368 | Missense_Mutation | G | C | p.L285F |
| CACO2_LARGE_INTESTINE | 113720360 | 113720484 | 113720368 | 113720368 | Missense_Mutation | G | C | p.L285F |
| NCIH748_LUNG | 113724373 | 113724487 | 113724476 | 113724476 | Missense_Mutation | G | T | p.G359C |
| SUM159PT_BREAST | 113724373 | 113724487 | 113724483 | 113724483 | Missense_Mutation | G | A | p.R361Q |
| BECKER_CENTRAL_NERVOUS_SYSTEM | 113735527 | 113735593 | 113735530 | 113735530 | Missense_Mutation | C | G | p.H634Q |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MCF2L |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MCF2L |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MCF2L |
Top |
RelatedDrugs for MCF2L |
| 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 |
Top |
RelatedDiseases for MCF2L |
| 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)
|