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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 MFGE8 |
 Gene summary |
| Gene information | Gene symbol | MFGE8 | Gene ID | 4240 |
| Gene name | milk fat globule-EGF factor 8 protein | |
| Synonyms | BA46|EDIL1|HMFG|HsT19888|MFG-E8|MFGM|OAcGD3S|SED1|SPAG10|hP47 | |
| Cytomap | 15q26.1 | |
| Type of gene | protein-coding | |
| Description | lactadherinO-acetyl disialoganglioside synthasebreast epithelial antigen BA46medinsperm associated antigen 10sperm surface protein hP47 | |
| Modification date | 20180523 | |
| UniProtAcc | Q08431 | |
| Context | PubMed: MFGE8 [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 MFGE8 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 MFGE8 |
| 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 MFGE8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_130535 | 15 | 89442691:89442763:89442886:89443042:89444781:89444869 | 89442886:89443042 | ENSG00000140545.10 | ENST00000560937.1,ENST00000566497.1,ENST00000558018.1,ENST00000542878.1,ENST00000539437.1,ENST00000268150.8 |
| exon_skip_130552 | 15 | 89442630:89442763:89444781:89444966:89448987:89449132 | 89444781:89444966 | ENSG00000140545.10 | ENST00000268151.7 |
| exon_skip_130576 | 15 | 89442886:89443042:89444781:89444966:89448987:89449132 | 89444781:89444966 | ENSG00000140545.10 | ENST00000566497.1,ENST00000558018.1,ENST00000542878.1,ENST00000539437.1,ENST00000268150.8 |
| exon_skip_130618 | 15 | 89448987:89449132:89449856:89450009:89450425:89450607 | 89449856:89450009 | ENSG00000140545.10 | ENST00000558029.1,ENST00000566497.1,ENST00000558018.1,ENST00000542878.1,ENST00000268151.7,ENST00000539437.1,ENST00000268150.8 |
| exon_skip_130624 | 15 | 89450425:89450607:89453022:89453154:89456477:89456490 | 89453022:89453154 | ENSG00000140545.10 | ENST00000558029.1,ENST00000566497.1,ENST00000268151.7,ENST00000268150.8 |
| exon_skip_130626 | 15 | 89453022:89453154:89455354:89455407:89456477:89456490 | 89455354:89455407 | ENSG00000140545.10 | ENST00000539437.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MFGE8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_130535 | 15 | 89442691:89442763:89442886:89443042:89444781:89444869 | 89442886:89443042 | ENSG00000140545.10 | ENST00000558018.1,ENST00000539437.1,ENST00000268150.8,ENST00000566497.1,ENST00000560937.1,ENST00000542878.1 |
| exon_skip_130552 | 15 | 89442630:89442763:89444781:89444966:89448987:89449132 | 89444781:89444966 | ENSG00000140545.10 | ENST00000268151.7 |
| exon_skip_130576 | 15 | 89442886:89443042:89444781:89444966:89448987:89449132 | 89444781:89444966 | ENSG00000140545.10 | ENST00000558018.1,ENST00000539437.1,ENST00000268150.8,ENST00000566497.1,ENST00000542878.1 |
| exon_skip_130618 | 15 | 89448987:89449132:89449856:89450009:89450425:89450607 | 89449856:89450009 | ENSG00000140545.10 | ENST00000558018.1,ENST00000539437.1,ENST00000268151.7,ENST00000268150.8,ENST00000566497.1,ENST00000542878.1,ENST00000558029.1 |
| exon_skip_130624 | 15 | 89450425:89450607:89453022:89453154:89456477:89456490 | 89453022:89453154 | ENSG00000140545.10 | ENST00000268151.7,ENST00000268150.8,ENST00000566497.1,ENST00000558029.1 |
| exon_skip_130626 | 15 | 89453022:89453154:89455354:89455407:89456477:89456490 | 89455354:89455407 | ENSG00000140545.10 | ENST00000539437.1 |
| 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 MFGE8 |
| 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 |
| ENST00000268150 | 89444781 | 89444966 | Frame-shift |
| ENST00000566497 | 89444781 | 89444966 | Frame-shift |
| ENST00000268150 | 89442886 | 89443042 | In-frame |
| ENST00000566497 | 89442886 | 89443042 | In-frame |
| ENST00000268150 | 89449856 | 89450009 | In-frame |
| ENST00000566497 | 89449856 | 89450009 | In-frame |
| ENST00000268150 | 89453022 | 89453154 | In-frame |
| ENST00000566497 | 89453022 | 89453154 | 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 |
| ENST00000268150 | 89444781 | 89444966 | Frame-shift |
| ENST00000566497 | 89444781 | 89444966 | Frame-shift |
| ENST00000268150 | 89442886 | 89443042 | In-frame |
| ENST00000566497 | 89442886 | 89443042 | In-frame |
| ENST00000268150 | 89449856 | 89450009 | In-frame |
| ENST00000566497 | 89449856 | 89450009 | In-frame |
| ENST00000268150 | 89453022 | 89453154 | In-frame |
| ENST00000566497 | 89453022 | 89453154 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MFGE8 |
| 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 |
| ENST00000268150 | 1954 | 387 | 89453022 | 89453154 | 166 | 297 | 24 | 68 |
| ENST00000566497 | 1706 | 387 | 89453022 | 89453154 | 136 | 267 | 24 | 68 |
| ENST00000268150 | 1954 | 387 | 89449856 | 89450009 | 480 | 632 | 129 | 180 |
| ENST00000566497 | 1706 | 387 | 89449856 | 89450009 | 450 | 602 | 129 | 180 |
| ENST00000268150 | 1954 | 387 | 89442886 | 89443042 | 963 | 1118 | 290 | 342 |
| ENST00000566497 | 1706 | 387 | 89442886 | 89443042 | 933 | 1088 | 290 | 342 |
| 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 |
| ENST00000268150 | 1954 | 387 | 89453022 | 89453154 | 166 | 297 | 24 | 68 |
| ENST00000566497 | 1706 | 387 | 89453022 | 89453154 | 136 | 267 | 24 | 68 |
| ENST00000268150 | 1954 | 387 | 89449856 | 89450009 | 480 | 632 | 129 | 180 |
| ENST00000566497 | 1706 | 387 | 89449856 | 89450009 | 450 | 602 | 129 | 180 |
| ENST00000268150 | 1954 | 387 | 89442886 | 89443042 | 963 | 1118 | 290 | 342 |
| ENST00000566497 | 1706 | 387 | 89442886 | 89443042 | 933 | 1088 | 290 | 342 |
| 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 |
| Q08431 | 24 | 68 | 1 | 112 | Alternative sequence | ID=VSP_039108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q08431 | 24 | 68 | 1 | 112 | Alternative sequence | ID=VSP_039108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q08431 | 24 | 68 | 25 | 69 | Alternative sequence | ID=VSP_059818;Note=In isoform 4. DICSKNPCHNGGLCEEISQEVRGDVFPSYTCTCLKGYAGNHCETK->E |
| Q08431 | 24 | 68 | 25 | 69 | Alternative sequence | ID=VSP_059818;Note=In isoform 4. DICSKNPCHNGGLCEEISQEVRGDVFPSYTCTCLKGYAGNHCETK->E |
| Q08431 | 24 | 68 | 24 | 387 | Chain | ID=PRO_0000007650;Note=Lactadherin |
| Q08431 | 24 | 68 | 24 | 387 | Chain | ID=PRO_0000007650;Note=Lactadherin |
| Q08431 | 24 | 68 | 27 | 38 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 24 | 68 | 27 | 38 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 24 | 68 | 32 | 55 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 24 | 68 | 32 | 55 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 24 | 68 | 57 | 66 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 24 | 68 | 57 | 66 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 24 | 68 | 24 | 67 | Domain | Note=EGF-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q08431 | 24 | 68 | 24 | 67 | Domain | Note=EGF-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q08431 | 24 | 68 | 42 | 42 | Modified residue | Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 |
| Q08431 | 24 | 68 | 42 | 42 | Modified residue | Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 |
| Q08431 | 24 | 68 | 46 | 48 | Motif | Note=Cell attachment site |
| Q08431 | 24 | 68 | 46 | 48 | Motif | Note=Cell attachment site |
| Q08431 | 129 | 180 | 24 | 387 | Chain | ID=PRO_0000007650;Note=Lactadherin |
| Q08431 | 129 | 180 | 24 | 387 | Chain | ID=PRO_0000007650;Note=Lactadherin |
| Q08431 | 129 | 180 | 70 | 225 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 129 | 180 | 70 | 225 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 129 | 180 | 70 | 225 | Domain | Note=F5/8 type C 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00081 |
| Q08431 | 129 | 180 | 70 | 225 | Domain | Note=F5/8 type C 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00081 |
| Q08431 | 290 | 342 | 291 | 342 | Alternative sequence | ID=VSP_039953;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 |
| Q08431 | 290 | 342 | 291 | 342 | Alternative sequence | ID=VSP_039953;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 |
| Q08431 | 290 | 342 | 24 | 387 | Chain | ID=PRO_0000007650;Note=Lactadherin |
| Q08431 | 290 | 342 | 24 | 387 | Chain | ID=PRO_0000007650;Note=Lactadherin |
| Q08431 | 290 | 342 | 202 | 387 | Chain | ID=PRO_0000007651;Note=Lactadherin short form |
| Q08431 | 290 | 342 | 202 | 387 | Chain | ID=PRO_0000007651;Note=Lactadherin short form |
| Q08431 | 290 | 342 | 268 | 317 | Chain | ID=PRO_0000007652;Note=Medin |
| Q08431 | 290 | 342 | 268 | 317 | Chain | ID=PRO_0000007652;Note=Medin |
| Q08431 | 290 | 342 | 230 | 387 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 290 | 342 | 230 | 387 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 290 | 342 | 230 | 387 | Domain | Note=F5/8 type C 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00081 |
| Q08431 | 290 | 342 | 230 | 387 | Domain | Note=F5/8 type C 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00081 |
| Q08431 | 290 | 342 | 325 | 325 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18780401;Dbxref=PMID:18780401 |
| Q08431 | 290 | 342 | 325 | 325 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18780401;Dbxref=PMID:18780401 |
| Q08431 | 290 | 342 | 329 | 329 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18780401;Dbxref=PMID:18780401 |
| Q08431 | 290 | 342 | 329 | 329 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18780401;Dbxref=PMID:18780401 |
| 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 |
| Q08431 | 24 | 68 | 1 | 112 | Alternative sequence | ID=VSP_039108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q08431 | 24 | 68 | 1 | 112 | Alternative sequence | ID=VSP_039108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q08431 | 24 | 68 | 25 | 69 | Alternative sequence | ID=VSP_059818;Note=In isoform 4. DICSKNPCHNGGLCEEISQEVRGDVFPSYTCTCLKGYAGNHCETK->E |
| Q08431 | 24 | 68 | 25 | 69 | Alternative sequence | ID=VSP_059818;Note=In isoform 4. DICSKNPCHNGGLCEEISQEVRGDVFPSYTCTCLKGYAGNHCETK->E |
| Q08431 | 24 | 68 | 24 | 387 | Chain | ID=PRO_0000007650;Note=Lactadherin |
| Q08431 | 24 | 68 | 24 | 387 | Chain | ID=PRO_0000007650;Note=Lactadherin |
| Q08431 | 24 | 68 | 27 | 38 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 24 | 68 | 27 | 38 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 24 | 68 | 32 | 55 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 24 | 68 | 32 | 55 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 24 | 68 | 57 | 66 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 24 | 68 | 57 | 66 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 24 | 68 | 24 | 67 | Domain | Note=EGF-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q08431 | 24 | 68 | 24 | 67 | Domain | Note=EGF-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q08431 | 24 | 68 | 42 | 42 | Modified residue | Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 |
| Q08431 | 24 | 68 | 42 | 42 | Modified residue | Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26091039;Dbxref=PMID:26091039 |
| Q08431 | 24 | 68 | 46 | 48 | Motif | Note=Cell attachment site |
| Q08431 | 24 | 68 | 46 | 48 | Motif | Note=Cell attachment site |
| Q08431 | 129 | 180 | 24 | 387 | Chain | ID=PRO_0000007650;Note=Lactadherin |
| Q08431 | 129 | 180 | 24 | 387 | Chain | ID=PRO_0000007650;Note=Lactadherin |
| Q08431 | 129 | 180 | 70 | 225 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 129 | 180 | 70 | 225 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 129 | 180 | 70 | 225 | Domain | Note=F5/8 type C 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00081 |
| Q08431 | 129 | 180 | 70 | 225 | Domain | Note=F5/8 type C 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00081 |
| Q08431 | 290 | 342 | 291 | 342 | Alternative sequence | ID=VSP_039953;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 |
| Q08431 | 290 | 342 | 291 | 342 | Alternative sequence | ID=VSP_039953;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 |
| Q08431 | 290 | 342 | 24 | 387 | Chain | ID=PRO_0000007650;Note=Lactadherin |
| Q08431 | 290 | 342 | 24 | 387 | Chain | ID=PRO_0000007650;Note=Lactadherin |
| Q08431 | 290 | 342 | 202 | 387 | Chain | ID=PRO_0000007651;Note=Lactadherin short form |
| Q08431 | 290 | 342 | 202 | 387 | Chain | ID=PRO_0000007651;Note=Lactadherin short form |
| Q08431 | 290 | 342 | 268 | 317 | Chain | ID=PRO_0000007652;Note=Medin |
| Q08431 | 290 | 342 | 268 | 317 | Chain | ID=PRO_0000007652;Note=Medin |
| Q08431 | 290 | 342 | 230 | 387 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 290 | 342 | 230 | 387 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q08431 | 290 | 342 | 230 | 387 | Domain | Note=F5/8 type C 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00081 |
| Q08431 | 290 | 342 | 230 | 387 | Domain | Note=F5/8 type C 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00081 |
| Q08431 | 290 | 342 | 325 | 325 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18780401;Dbxref=PMID:18780401 |
| Q08431 | 290 | 342 | 325 | 325 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18780401;Dbxref=PMID:18780401 |
| Q08431 | 290 | 342 | 329 | 329 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18780401;Dbxref=PMID:18780401 |
| Q08431 | 290 | 342 | 329 | 329 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18780401;Dbxref=PMID:18780401 |
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SNVs in the skipped exons for MFGE8 |
| - 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. |
MFGE8_COAD_exon_skip_130535_psi_boxplot.png |
MFGE8_LIHC_exon_skip_130535_psi_boxplot.png |
| - 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_130535 | 89442887 | 89443042 | 89442991 | 89442991 | Frame_Shift_Del | G | - | p.R300fs |
| COAD | TCGA-A6-6781-01 | exon_skip_130535 | 89442887 | 89443042 | 89442994 | 89442994 | Frame_Shift_Del | C | - | p.A307fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_130535 | 89442887 | 89443042 | 89443018 | 89443018 | Frame_Shift_Del | C | - | p.V291fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_130535 | 89442887 | 89443042 | 89443021 | 89443021 | Frame_Shift_Del | C | - | p.E290fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_130535 | 89442887 | 89443042 | 89443032 | 89443032 | Frame_Shift_Del | C | - | p.G286fs |
| HNSC | TCGA-CV-6956-01 | exon_skip_130624 | 89453023 | 89453154 | 89453067 | 89453074 | Frame_Shift_Del | GTGTACGA | - | p.SYT44fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_130624 | 89453023 | 89453154 | 89453139 | 89453139 | Frame_Shift_Del | T | - | p.N22fs |
| UCEC | TCGA-BG-A0LX-01 | exon_skip_130624 | 89453023 | 89453154 | 89453139 | 89453139 | Frame_Shift_Del | T | - | p.N30fs |
| LIHC | TCGA-EP-A2KA-01 | exon_skip_130535 | 89442887 | 89443042 | 89442944 | 89442944 | Nonsense_Mutation | G | T | p.Y323X |
| THYM | TCGA-X7-A8D6-01 | exon_skip_130624 | 89453023 | 89453154 | 89453069 | 89453069 | Nonsense_Mutation | G | T | p.Y53X |
| PRAD | TCGA-J9-A52C-01 | exon_skip_130624 | 89453023 | 89453154 | 89453092 | 89453092 | Nonsense_Mutation | G | A | p.R38* |
| PRAD | TCGA-J9-A52C-01 | exon_skip_130624 | 89453023 | 89453154 | 89453092 | 89453092 | Nonsense_Mutation | G | A | p.R46X |
| STAD | TCGA-BR-7851-01 | exon_skip_130624 | 89453023 | 89453154 | 89453092 | 89453092 | Nonsense_Mutation | G | A | p.R46* |
| STAD | TCGA-BR-7851-01 | exon_skip_130624 | 89453023 | 89453154 | 89453092 | 89453092 | Nonsense_Mutation | G | A | p.R46X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-DD-A39Y-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_130535 | |
| Skipped exon start: 89442887 | |
| Skipped exon end: 89443042 | |
| Mutation start: 89442991 | |
| Mutation end: 89442991 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.R300fs | |
| Sample: TCGA-DD-A39Y-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_130535 | |
| Skipped exon start: 89442887 | |
| Skipped exon end: 89443042 | |
| Mutation start: 89443018 | |
| Mutation end: 89443018 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.V291fs | |
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| - 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 |
| ACCMESO1_PLEURA | 89442887 | 89443042 | 89442912 | 89442913 | Frame_Shift_Ins | - | G | p.Q334fs |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 89442887 | 89443042 | 89442919 | 89442919 | Missense_Mutation | C | T | p.E332K |
| AGS_STOMACH | 89444782 | 89444966 | 89444816 | 89444816 | Missense_Mutation | A | G | p.V279A |
| CL14_LARGE_INTESTINE | 89444782 | 89444966 | 89444828 | 89444828 | Missense_Mutation | A | C | p.F275C |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 89444782 | 89444966 | 89444889 | 89444889 | Missense_Mutation | A | G | p.W255R |
| MCC13_SKIN | 89444782 | 89444966 | 89444928 | 89444928 | Missense_Mutation | G | A | p.P242S |
| JHUEM7_ENDOMETRIUM | 89444782 | 89444966 | 89444957 | 89444957 | Missense_Mutation | T | C | p.N232S |
| HS940T_FIBROBLAST | 89453023 | 89453154 | 89453073 | 89453073 | Missense_Mutation | G | A | p.S52L |
| BHY_UPPER_AERODIGESTIVE_TRACT | 89453023 | 89453154 | 89453082 | 89453082 | Missense_Mutation | A | T | p.V49D |
| LOVO_LARGE_INTESTINE | 89453023 | 89453154 | 89453091 | 89453091 | Missense_Mutation | C | T | p.R46Q |
| CCK81_LARGE_INTESTINE | 89455355 | 89455407 | 89455384 | 89455384 | Missense_Mutation | C | T | p.G7E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MFGE8 |
| 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 |
| exon_skip_130618 | 15 | 89448987:89449132:89449856:89450009:89450425:89450607 | 89449856:89450009 | ENST00000558029.1,ENST00000566497.1,ENST00000558018.1,ENST00000542878.1,ENST00000268151.7,ENST00000539437.1,ENST00000268150.8 | THCA | rs2271714 | chr15:89450003 | A/G | 3.63e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MFGE8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MFGE8 |
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RelatedDrugs for MFGE8 |
| 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 MFGE8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MFGE8 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| MFGE8 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| MFGE8 | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
| MFGE8 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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