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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 MCFD2 |
 Gene summary |
| Gene information | Gene symbol | MCFD2 | Gene ID | 90411 |
| Gene name | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | |
| Synonyms | F5F8D|F5F8D2|LMAN1IP|SDNSF | |
| Cytomap | 2p21 | |
| Type of gene | protein-coding | |
| Description | multiple coagulation factor deficiency protein 2multiple coagulation factor deficiency 2neural stem cell-derived neuronal survival protein | |
| 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 MCFD2 |
| 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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ENSG00000180398
| 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 | ENST00000417180.1 | MCFD2-210:protein_coding:MCFD2 | 5.997283e+00 | 8.543615e-01 | 1.288917e-08 | 3.737324e-07 |
| CB | UP | ENST00000493804.1 | MCFD2-217:lncRNA:MCFD2 | 6.638887e+00 | 1.359673e+00 | 2.089316e-06 | 2.804033e-05 |
| TC | UP | ENST00000409973.5 | MCFD2-208:protein_coding:MCFD2 | 2.559852e+00 | 9.541613e-01 | 7.779901e-03 | 4.651679e-02 |
| 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 MCFD2 |
| 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_103596 | chr2 | 46907935:46907969:46909023:46909177:46941572:46941714 | 46909023:46909177 |
| exon_skip_123071 | chr2 | 46905466:46905594:46907810:46907969:46909023:46909072 | 46907810:46907969 |
| exon_skip_157898 | chr2 | 46905536:46905594:46907810:46907969:46941572:46941773 | 46907810:46907969 |
| exon_skip_208412 | chr2 | 46905466:46905594:46907810:46907969:46941572:46941714 | 46907810:46907969 |
| exon_skip_222776 | chr2 | 46907935:46907969:46909023:46909177:46915723:46915761 | 46909023:46909177 |
| exon_skip_232952 | chr2 | 46905536:46905594:46907810:46907969:46915723:46915789 | 46907810:46907969 |
| exon_skip_255882 | chr2 | 46905466:46905594:46907810:46907969:46915981:46916054 | 46907810:46907969 |
| exon_skip_275836 | chr2 | 46905245:46905594:46907810:46907969:46941572:46941773 | 46907810:46907969 |
| exon_skip_30013 | chr2 | 46909132:46909177:46910780:46910873:46915723:46915761 | 46910780:46910873 |
| exon_skip_38218 | chr2 | 46907935:46907969:46909023:46909177:46915981:46916054 | 46909023:46909177 |
| exon_skip_60744 | chr2 | 46904855:46905594:46907810:46907969:46915723:46915789 | 46907810:46907969 |
| exon_skip_71416 | chr2 | 46907935:46907969:46909023:46909177:46910780:46910873 | 46909023:46909177 |
| exon_skip_86383 | chr2 | 46909023:46909177:46910780:46910873:46915723:46915761 | 46910780:46910873 |
| exon_skip_86393 | chr2 | 46905466:46905594:46907810:46907969:46915723:46915761 | 46907810:46907969 |
| 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 MCFD2 |
| 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 |
| ENST00000319466 | 46909023 | 46909177 | 3UTR-3CDS |
| ENST00000409207 | 46909023 | 46909177 | 3UTR-3CDS |
| ENST00000409218 | 46909023 | 46909177 | 3UTR-3CDS |
| ENST00000409973 | 46910780 | 46910873 | 3UTR-3UTR |
| ENST00000319466 | 46907810 | 46907969 | Frame-shift |
| ENST00000409105 | 46907810 | 46907969 | Frame-shift |
| ENST00000409207 | 46907810 | 46907969 | Frame-shift |
| ENST00000409218 | 46907810 | 46907969 | Frame-shift |
| ENST00000409973 | 46907810 | 46907969 | Frame-shift |
| 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 |
| ENST00000319466 | 46909023 | 46909177 | 3UTR-3CDS |
| ENST00000409207 | 46909023 | 46909177 | 3UTR-3CDS |
| ENST00000409218 | 46909023 | 46909177 | 3UTR-3CDS |
| ENST00000409973 | 46910780 | 46910873 | 3UTR-3UTR |
| ENST00000319466 | 46907810 | 46907969 | Frame-shift |
| ENST00000409105 | 46907810 | 46907969 | Frame-shift |
| ENST00000409207 | 46907810 | 46907969 | Frame-shift |
| ENST00000409218 | 46907810 | 46907969 | Frame-shift |
| ENST00000409973 | 46907810 | 46907969 | 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 |
| ENST00000319466 | 46909023 | 46909177 | 3UTR-3CDS |
| ENST00000409207 | 46909023 | 46909177 | 3UTR-3CDS |
| ENST00000409218 | 46909023 | 46909177 | 3UTR-3CDS |
| ENST00000409973 | 46909023 | 46909177 | 3UTR-3CDS |
| ENST00000409973 | 46910780 | 46910873 | 3UTR-3UTR |
| ENST00000319466 | 46907810 | 46907969 | Frame-shift |
| ENST00000409105 | 46907810 | 46907969 | Frame-shift |
| ENST00000409207 | 46907810 | 46907969 | Frame-shift |
| ENST00000409218 | 46907810 | 46907969 | Frame-shift |
| ENST00000409973 | 46907810 | 46907969 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for MCFD2 |
p-ENSG00000180398_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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in MCFD2 |
| 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 |
| Mayo | ENST00000409973 | 46910780 | 46910873 | hsa-miR-4695-3p | chr2:46910837-46910844 | 8mer-1a | chr2:46910820-46910844 | 152.00 | -21.28 |
| Mayo | ENST00000409973 | 46910780 | 46910873 | hsa-miR-6747-3p | chr2:46910807-46910814 | 8mer-1a | chr2:46910805-46910823 | 159.00 | -20.18 |
| Mayo | ENST00000409973 | 46910780 | 46910873 | hsa-miR-8078 | chr2:46910846-46910853 | 8mer-1a | chr2:46910832-46910853 | 151.00 | -21.97 |
| Mayo | ENST00000409973 | 46910780 | 46910873 | hsa-miR-3929 | chr2:46910842-46910849 | 8mer-1a | chr2:46910832-46910853 | 151.00 | -21.97 |
| Mayo | ENST00000409973 | 46910780 | 46910873 | hsa-miR-371a-5p | chr2:46910834-46910841 | 8mer-1a | chr2:46910820-46910844 | 152.00 | -21.28 |
| Mayo | ENST00000409973 | 46910780 | 46910873 | hsa-miR-645 | chr2:46910844-46910851 | 8mer-1a | chr2:46910832-46910853 | 151.00 | -21.97 |
| Mayo | ENST00000409973 | 46910780 | 46910873 | hsa-miR-4478 | chr2:46910842-46910849 | 8mer-1a | chr2:46910832-46910853 | 151.00 | -21.97 |
| Mayo | ENST00000409973 | 46910780 | 46910873 | hsa-miR-660-3p | chr2:46910810-46910817 | 8mer-1a | chr2:46910809-46910831 | 154.00 | -27.54 |
| MSBB | ENST00000409973 | 46910780 | 46910873 | hsa-miR-4695-3p | chr2:46910837-46910844 | 8mer-1a | chr2:46910820-46910844 | 152.00 | -21.28 |
| MSBB | ENST00000409973 | 46910780 | 46910873 | hsa-miR-6747-3p | chr2:46910807-46910814 | 8mer-1a | chr2:46910805-46910823 | 159.00 | -20.18 |
| MSBB | ENST00000409973 | 46910780 | 46910873 | hsa-miR-8078 | chr2:46910846-46910853 | 8mer-1a | chr2:46910832-46910853 | 151.00 | -21.97 |
| MSBB | ENST00000409973 | 46910780 | 46910873 | hsa-miR-3929 | chr2:46910842-46910849 | 8mer-1a | chr2:46910832-46910853 | 151.00 | -21.97 |
| MSBB | ENST00000409973 | 46910780 | 46910873 | hsa-miR-371a-5p | chr2:46910834-46910841 | 8mer-1a | chr2:46910820-46910844 | 152.00 | -21.28 |
| MSBB | ENST00000409973 | 46910780 | 46910873 | hsa-miR-645 | chr2:46910844-46910851 | 8mer-1a | chr2:46910832-46910853 | 151.00 | -21.97 |
| MSBB | ENST00000409973 | 46910780 | 46910873 | hsa-miR-4478 | chr2:46910842-46910849 | 8mer-1a | chr2:46910832-46910853 | 151.00 | -21.97 |
| MSBB | ENST00000409973 | 46910780 | 46910873 | hsa-miR-660-3p | chr2:46910810-46910817 | 8mer-1a | chr2:46910809-46910831 | 154.00 | -27.54 |
| ROSMAP | ENST00000409973 | 46910780 | 46910873 | hsa-miR-4695-3p | chr2:46910837-46910844 | 8mer-1a | chr2:46910820-46910844 | 152.00 | -21.28 |
| ROSMAP | ENST00000409973 | 46910780 | 46910873 | hsa-miR-6747-3p | chr2:46910807-46910814 | 8mer-1a | chr2:46910805-46910823 | 159.00 | -20.18 |
| ROSMAP | ENST00000409973 | 46910780 | 46910873 | hsa-miR-8078 | chr2:46910846-46910853 | 8mer-1a | chr2:46910832-46910853 | 151.00 | -21.97 |
| ROSMAP | ENST00000409973 | 46910780 | 46910873 | hsa-miR-3929 | chr2:46910842-46910849 | 8mer-1a | chr2:46910832-46910853 | 151.00 | -21.97 |
| ROSMAP | ENST00000409973 | 46910780 | 46910873 | hsa-miR-371a-5p | chr2:46910834-46910841 | 8mer-1a | chr2:46910820-46910844 | 152.00 | -21.28 |
| ROSMAP | ENST00000409973 | 46910780 | 46910873 | hsa-miR-645 | chr2:46910844-46910851 | 8mer-1a | chr2:46910832-46910853 | 151.00 | -21.97 |
| ROSMAP | ENST00000409973 | 46910780 | 46910873 | hsa-miR-4478 | chr2:46910842-46910849 | 8mer-1a | chr2:46910832-46910853 | 151.00 | -21.97 |
| ROSMAP | ENST00000409973 | 46910780 | 46910873 | hsa-miR-660-3p | chr2:46910810-46910817 | 8mer-1a | chr2:46910809-46910831 | 154.00 | -27.54 |
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SNVs in the skipped exons for MCFD2 |
| - 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 MCFD2 |
| 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 MCFD2 |
| 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 MCFD2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_222776 | -5.951451e-01 | 1.308121e-16 |
| CB | RBM3 | exon_skip_222776 | 5.451333e-01 | 1.092167e-13 |
| CB | TRA2A | exon_skip_222776 | -4.562456e-01 | 1.504178e-09 |
| HCC | RBMS3 | exon_skip_222776 | 4.915282e-01 | 5.186510e-18 |
| HCC | PCBP4 | exon_skip_222776 | 4.492869e-01 | 5.731428e-15 |
| HCC | FUBP3 | exon_skip_222776 | 4.170583e-01 | 6.498959e-13 |
| IFG | IGF2BP2 | exon_skip_222776 | 4.304810e-01 | 2.221282e-02 |
| IFG | RBM24 | exon_skip_222776 | -4.857179e-01 | 8.785097e-03 |
| IFG | ENOX1 | exon_skip_222776 | -4.424158e-01 | 1.840154e-02 |
| STG | RBMS2 | exon_skip_222776 | 4.012450e-01 | 3.278994e-04 |
| STG | PCBP4 | exon_skip_222776 | 6.170316e-01 | 2.926227e-09 |
| STG | FUBP3 | exon_skip_222776 | 4.611823e-01 | 2.756153e-05 |
| TC | RBMS2 | exon_skip_222776 | 4.984955e-01 | 1.971964e-11 |
| TC | RBMS3 | exon_skip_222776 | 4.348653e-01 | 9.134823e-09 |
| TC | FUBP3 | exon_skip_222776 | 4.213689e-01 | 2.877790e-08 |
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RelatedDrugs for MCFD2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q8NI22 | approved|investigational | DB00025 | Antihemophilic factor, human recombinant | biotech | Q8NI22 |
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RelatedDiseases for MCFD2 |
| 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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