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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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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 | 20200313 | |
| UniProtAcc | A0A2X0U4S1, A2A3G7, A2A3H1, A2A639, A2A640, B7ZBR9, F8WBK7, | |
| Context | - 30045751(DNA methylation analysis on purified neurons and glia dissects age and Alzheimer's disease-specific changes in the human cortex) |
| 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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Gene structures and expression levels for MCF2L |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000126217
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000442625.2 | MCF2L-218:nonsense_mediated_decay:MCF2L | 1.970154e+02 | 8.094780e-01 | 7.092207e-09 | 2.255012e-07 |
| CB | UP | ENST00000486210.1 | MCF2L-226:retained_intron:MCF2L | 2.236813e+01 | 9.434814e-01 | 7.774536e-05 | 5.993023e-04 |
| CB | UP | ENST00000486806.1 | MCF2L-227:protein_coding:MCF2L | 7.183704e+00 | 8.127682e-01 | 1.828507e-03 | 8.559650e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MCF2L |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_129720 | chr13 | 113089691:113089728:113090068:113090160:113091121:113091195 | 113090068:113090160 |
| exon_skip_142684 | chr13 | 113089691:113089728:113091121:113091195:113094514:113094604 | 113091121:113091195 |
| exon_skip_16346 | chr13 | 113075966:113076157:113077052:113077211:113078363:113078436 | 113077052:113077211 |
| exon_skip_166623 | chr13 | 113089691:113089728:113090068:113090160:113094514:113094604 | 113090068:113090160 |
| exon_skip_175818 | chr13 | 113089691:113089728:113090068:113090151:113091121:113091195 | 113090068:113090151 |
| exon_skip_195584 | chr13 | 113078666:113078739:113081213:113081279:113082427:113082542 | 113081213:113081279 |
| exon_skip_197191 | chr13 | 113024698:113024758:113045271:113045361:113060593:113060712 | 113045271:113045361 |
| exon_skip_202963 | chr13 | 113014763:113014846:113024644:113024758:113045271:113045322 | 113024644:113024758 |
| exon_skip_249802 | chr13 | 113066046:113066170:113070059:113070173:113074444:113074563 | 113070059:113070173 |
| exon_skip_284012 | chr13 | 113045271:113045361:113060593:113060712:113064304:113064311 | 113060593:113060712 |
| exon_skip_287338 | chr13 | 113064936:113065085:113066046:113066170:113070059:113070173 | 113066046:113066170 |
| exon_skip_30430 | chr13 | 113083998:113084067:113084892:113084984:113085086:113085178 | 113084892:113084984 |
| exon_skip_37144 | chr13 | 113078668:113078739:113081213:113081279:113082427:113082542 | 113081213:113081279 |
| exon_skip_43261 | chr13 | 113090068:113090160:113091121:113091195:113094514:113094604 | 113091121:113091195 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for MCF2L |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000375608 | 113045271 | 113045361 | Frame-shift |
| ENST00000375608 | 113077052 | 113077211 | Frame-shift |
| ENST00000375608 | 113081213 | 113081279 | Frame-shift |
| ENST00000375608 | 113084892 | 113084984 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000375608 | 113081213 | 113081279 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000375608 | 113024644 | 113024758 | Frame-shift |
| ENST00000375608 | 113045271 | 113045361 | Frame-shift |
| ENST00000375608 | 113066046 | 113066170 | Frame-shift |
| ENST00000375608 | 113070059 | 113070173 | Frame-shift |
| ENST00000375608 | 113077052 | 113077211 | Frame-shift |
| ENST00000375608 | 113081213 | 113081279 | Frame-shift |
| ENST00000375608 | 113060593 | 113060712 | In-frame |
| ENST00000375608 | 113084892 | 113084984 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MCF2L |
p-ENSG00000126217_img4.png |
| Loci of skipped exons in ROSMAP 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 | 113084892 | 113084984 | 2211 | 2302 | 717 | 748 |
| Loci of skipped exons in MSBB 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 Mayo 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 | 113060593 | 113060712 | 519 | 637 | 153 | 193 |
| ENST00000375608 | 3665 | 1137 | 113084892 | 113084984 | 2211 | 2302 | 717 | 748 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| O15068 | 717 | 748 | 1 | 1137 | Chain | ID=PRO_0000080935;Note=Guanine nucleotide exchange factor DBS |
| O15068 | 717 | 748 | 631 | 811 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| O15068 | 717 | 748 | 721 | 721 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 Mayo. |
| 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 |
| O15068 | 153 | 193 | 1 | 189 | Alternative sequence | ID=VSP_026119;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15157669;Dbxref=PMID:15157669 |
| O15068 | 153 | 193 | 1 | 1137 | Chain | ID=PRO_0000080935;Note=Guanine nucleotide exchange factor DBS |
| O15068 | 153 | 193 | 52 | 224 | Domain | Note=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056 |
| O15068 | 717 | 748 | 1 | 1137 | Chain | ID=PRO_0000080935;Note=Guanine nucleotide exchange factor DBS |
| O15068 | 717 | 748 | 631 | 811 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| O15068 | 717 | 748 | 721 | 721 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in MCF2L |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for MCF2L |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for MCF2L |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MCF2L |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for MCF2L |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | SRSF2 | exon_skip_129720 | -4.611204e-01 | 3.077324e-02 |
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RelatedDrugs for MCF2L |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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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)
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