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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 MFSD1 |
 Gene summary |
| Gene information | Gene symbol | MFSD1 | Gene ID | 64747 |
| Gene name | major facilitator superfamily domain containing 1 | |
| Synonyms | SMAP4 | |
| Cytomap | 3q25.32 | |
| Type of gene | protein-coding | |
| Description | major facilitator superfamily domain-containing protein 1smooth muscle cell-associated protein 4 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| 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 MFSD1 |
| 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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ENSG00000118855
| 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 | DOWN | ENST00000471500.5 | MFSD1-209:nonsense_mediated_decay:MFSD1 | 9.315580e+01 | -1.591883e+00 | 1.514933e-03 | 7.318343e-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 MFSD1 |
| 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_112707 | chr3 | 158824124:158824236:158825178:158825301:158826015:158826062 | 158825178:158825301 |
| exon_skip_164829 | chr3 | 158820215:158820326:158821597:158821653:158821984:158822140 | 158821597:158821653 |
| exon_skip_215415 | chr3 | 158824124:158824236:158826015:158826062:158827280:158827337 | 158826015:158826062 |
| exon_skip_270362 | chr3 | 158821597:158821653:158821984:158822140:158823428:158823486 | 158821984:158822140 |
| exon_skip_277302 | chr3 | 158809237:158809287:158813965:158814067:158819649:158819706 | 158813965:158814067 |
| exon_skip_32469 | chr3 | 158804323:158804371:158805362:158805474:158807040:158807082 | 158805362:158805474 |
| 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 MFSD1 |
| 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 |
| ENST00000264266 | 158805362 | 158805474 | Frame-shift |
| ENST00000264266 | 158813965 | 158814067 | Frame-shift |
| ENST00000264266 | 158821984 | 158822140 | Frame-shift |
| ENST00000264266 | 158821597 | 158821653 | 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 |
| ENST00000264266 | 158805362 | 158805474 | Frame-shift |
| ENST00000264266 | 158813965 | 158814067 | Frame-shift |
| ENST00000264266 | 158821984 | 158822140 | 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 |
| ENST00000264266 | 158805362 | 158805474 | Frame-shift |
| ENST00000264266 | 158813965 | 158814067 | Frame-shift |
| ENST00000264266 | 158821984 | 158822140 | Frame-shift |
| ENST00000264266 | 158821597 | 158821653 | In-frame |
| ENST00000264266 | 158826015 | 158826062 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MFSD1 |
p-ENSG00000118855_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 |
| ENST00000264266 | 1611 | 465 | 158821597 | 158821653 | 927 | 982 | 288 | 306 |
| 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 |
| ENST00000264266 | 1611 | 465 | 158821597 | 158821653 | 927 | 982 | 288 | 306 |
| ENST00000264266 | 1611 | 465 | 158826015 | 158826062 | 1352 | 1398 | 430 | 445 |
| 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 |
| Q9H3U5 | 288 | 306 | 79 | 465 | Alternative sequence | ID=VSP_022538;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9H3U5 | 288 | 306 | 1 | 465 | Chain | ID=PRO_0000273382;Note=Major facilitator superfamily domain-containing protein 1 |
| Q9H3U5 | 288 | 306 | 303 | 323 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9H3U5 | 288 | 306 | 79 | 465 | Alternative sequence | ID=VSP_022538;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9H3U5 | 288 | 306 | 1 | 465 | Chain | ID=PRO_0000273382;Note=Major facilitator superfamily domain-containing protein 1 |
| Q9H3U5 | 288 | 306 | 303 | 323 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H3U5 | 430 | 445 | 79 | 465 | Alternative sequence | ID=VSP_022538;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9H3U5 | 430 | 445 | 1 | 465 | Chain | ID=PRO_0000273382;Note=Major facilitator superfamily domain-containing protein 1 |
| Q9H3U5 | 430 | 445 | 418 | 438 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in MFSD1 |
| 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 MFSD1 |
| - 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 MFSD1 |
| 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 MFSD1 |
| 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 MFSD1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | SNRPA | exon_skip_32469 | 5.324929e-01 | 3.533741e-03 |
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RelatedDrugs for MFSD1 |
| 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 MFSD1 |
| 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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