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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for MFSD11

check button Gene summary
Gene informationGene symbol

MFSD11

Gene ID

79157

Gene namemajor facilitator superfamily domain containing 11
SynonymsET
Cytomap

17q25.1-q25.2

Type of geneprotein-coding
DescriptionUNC93-like protein MFSD11major facilitator superfamily domain-containing protein 11protein ET
Modification date20180519
UniProtAcc

O43934

ContextPubMed: MFSD11 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for MFSD11 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for MFSD11

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for MFSD11

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1565671774735019:74735075:74737038:74737146:74738050:7473813074737038:74737146ENSG00000092931.7ENST00000355954.3,ENST00000588460.1,ENST00000593181.1,ENST00000590514.1,ENST00000336509.4,ENST00000588768.1,ENST00000586622.1,ENST00000587661.1
exon_skip_1565681774738100:74738130:74738258:74738355:74739479:7473953874738258:74738355ENSG00000092931.7ENST00000588460.1,ENST00000590514.1,ENST00000336509.4,ENST00000588031.1,ENST00000586622.1
exon_skip_1565691774738100:74738130:74738258:74738355:74740403:7474054874738258:74738355ENSG00000092931.7ENST00000588768.1,ENST00000588670.1
exon_skip_1565721774738272:74738355:74739479:74739538:74740403:7474054874739479:74739538ENSG00000092931.7ENST00000588460.1,ENST00000590514.1,ENST00000336509.4,ENST00000588031.1,ENST00000586622.1,ENST00000585584.1
exon_skip_1565731774738272:74738355:74740403:74740548:74750128:7475016974740403:74740548ENSG00000092931.7ENST00000588768.1,ENST00000588670.1
exon_skip_1565751774740403:74740548:74741474:74741521:74750128:7475016974741474:74741521ENSG00000092931.7ENST00000585584.1
exon_skip_1565761774740403:74740548:74750128:74750169:74763467:7476353374750128:74750169ENSG00000092931.7ENST00000355954.3,ENST00000588460.1,ENST00000593181.1,ENST00000590514.1,ENST00000336509.4,ENST00000588768.1,ENST00000586622.1,ENST00000588670.1
exon_skip_1565791774750128:74750169:74763467:74763533:74765827:7476592274763467:74763533ENSG00000092931.7ENST00000355954.3,ENST00000588460.1,ENST00000593181.1,ENST00000590514.1,ENST00000336509.4,ENST00000588768.1,ENST00000586622.1,ENST00000585584.1,ENST00000588670.1
exon_skip_1565801774763522:74763533:74765827:74765953:74771078:7477116374765827:74765953ENSG00000092931.7ENST00000585692.1,ENST00000355954.3,ENST00000588460.1,ENST00000593181.1,ENST00000590514.1,ENST00000336509.4,ENST00000588768.1,ENST00000585865.1,ENST00000585958.1,ENST00000586622.1
exon_skip_1565811774765827:74765953:74771078:74771253:74772487:7477262374771078:74771253ENSG00000092931.7ENST00000585692.1,ENST00000355954.3,ENST00000588460.1,ENST00000593181.1,ENST00000590514.1,ENST00000336509.4,ENST00000585865.1,ENST00000586622.1
exon_skip_1565831774771078:74771253:74772487:74772623:74774269:7477434774772487:74772623ENSG00000092931.7ENST00000585692.1,ENST00000355954.3,ENST00000588460.1,ENST00000593181.1,ENST00000590514.1,ENST00000336509.4,ENST00000586622.1,ENST00000590070.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for MFSD11

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1565681774738100:74738130:74738258:74738355:74739479:7473953874738258:74738355ENSG00000092931.7ENST00000586622.1,ENST00000588460.1,ENST00000336509.4,ENST00000590514.1,ENST00000588031.1
exon_skip_1565691774738100:74738130:74738258:74738355:74740403:7474054874738258:74738355ENSG00000092931.7ENST00000588670.1,ENST00000588768.1
exon_skip_1565721774738272:74738355:74739479:74739538:74740403:7474054874739479:74739538ENSG00000092931.7ENST00000586622.1,ENST00000588460.1,ENST00000336509.4,ENST00000590514.1,ENST00000588031.1,ENST00000585584.1
exon_skip_1565731774738272:74738355:74740403:74740548:74750128:7475016974740403:74740548ENSG00000092931.7ENST00000588670.1,ENST00000588768.1
exon_skip_1565751774740403:74740548:74741474:74741521:74750128:7475016974741474:74741521ENSG00000092931.7ENST00000585584.1
exon_skip_1565761774740403:74740548:74750128:74750169:74763467:7476353374750128:74750169ENSG00000092931.7ENST00000586622.1,ENST00000588460.1,ENST00000593181.1,ENST00000336509.4,ENST00000355954.3,ENST00000590514.1,ENST00000588670.1,ENST00000588768.1
exon_skip_1565791774750128:74750169:74763467:74763533:74765827:7476592274763467:74763533ENSG00000092931.7ENST00000586622.1,ENST00000588460.1,ENST00000593181.1,ENST00000336509.4,ENST00000355954.3,ENST00000590514.1,ENST00000588670.1,ENST00000588768.1,ENST00000585584.1
exon_skip_1565801774763522:74763533:74765827:74765953:74771078:7477116374765827:74765953ENSG00000092931.7ENST00000586622.1,ENST00000588460.1,ENST00000593181.1,ENST00000336509.4,ENST00000355954.3,ENST00000590514.1,ENST00000588768.1,ENST00000585958.1,ENST00000585692.1,ENST00000585865.1
exon_skip_1565811774765827:74765953:74771078:74771253:74772487:7477262374771078:74771253ENSG00000092931.7ENST00000586622.1,ENST00000588460.1,ENST00000593181.1,ENST00000336509.4,ENST00000355954.3,ENST00000590514.1,ENST00000585692.1,ENST00000585865.1
exon_skip_1565831774771078:74771253:74772487:74772623:74774269:7477434774772487:74772623ENSG00000092931.7ENST00000586622.1,ENST00000588460.1,ENST00000593181.1,ENST00000336509.4,ENST00000355954.3,ENST00000590514.1,ENST00000585692.1,ENST00000590070.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for MFSD11

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003365097473825874738355Frame-shift
ENST000005866227473825874738355Frame-shift
ENST000005884607473825874738355Frame-shift
ENST000005905147473825874738355Frame-shift
ENST000003365097473947974739538Frame-shift
ENST000005866227473947974739538Frame-shift
ENST000005884607473947974739538Frame-shift
ENST000005905147473947974739538Frame-shift
ENST000003365097475012874750169Frame-shift
ENST000005866227475012874750169Frame-shift
ENST000005884607475012874750169Frame-shift
ENST000005905147475012874750169Frame-shift
ENST000003365097477107874771253Frame-shift
ENST000005866227477107874771253Frame-shift
ENST000005884607477107874771253Frame-shift
ENST000005905147477107874771253Frame-shift
ENST000003365097477248774772623Frame-shift
ENST000005866227477248774772623Frame-shift
ENST000005884607477248774772623Frame-shift
ENST000005905147477248774772623Frame-shift
ENST000003365097473703874737146In-frame
ENST000005866227473703874737146In-frame
ENST000005884607473703874737146In-frame
ENST000005905147473703874737146In-frame
ENST000003365097476346774763533In-frame
ENST000005866227476346774763533In-frame
ENST000005884607476346774763533In-frame
ENST000005905147476346774763533In-frame
ENST000003365097476582774765953In-frame
ENST000005866227476582774765953In-frame
ENST000005884607476582774765953In-frame
ENST000005905147476582774765953In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003365097473825874738355Frame-shift
ENST000005866227473825874738355Frame-shift
ENST000005884607473825874738355Frame-shift
ENST000005905147473825874738355Frame-shift
ENST000003365097473947974739538Frame-shift
ENST000005866227473947974739538Frame-shift
ENST000005884607473947974739538Frame-shift
ENST000005905147473947974739538Frame-shift
ENST000003365097475012874750169Frame-shift
ENST000005866227475012874750169Frame-shift
ENST000005884607475012874750169Frame-shift
ENST000005905147475012874750169Frame-shift
ENST000003365097477107874771253Frame-shift
ENST000005866227477107874771253Frame-shift
ENST000005884607477107874771253Frame-shift
ENST000005905147477107874771253Frame-shift
ENST000003365097477248774772623Frame-shift
ENST000005866227477248774772623Frame-shift
ENST000005884607477248774772623Frame-shift
ENST000005905147477248774772623Frame-shift
ENST000003365097476346774763533In-frame
ENST000005866227476346774763533In-frame
ENST000005884607476346774763533In-frame
ENST000005905147476346774763533In-frame
ENST000003365097476582774765953In-frame
ENST000005866227476582774765953In-frame
ENST000005884607476582774765953In-frame
ENST000005905147476582774765953In-frame

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Infer the effects of exon skipping event on protein functional features for MFSD11

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000336509255544974737038747371464075145186
ENST0000058662229694497473703874737146129013975186
ENST0000058846036294497473703874737146219523025186
ENST00000590514190844974737038747371463194265186
ENST00000336509255544974763467747635339371002227249
ENST000005866222969449747634677476353318201885227249
ENST000005884603629449747634677476353327252790227249
ENST0000059051419084497476346774763533849914227249
ENST000003365092555449747658277476595310031128249291
ENST000005866222969449747658277476595318862011249291
ENST000005884603629449747658277476595327912916249291
ENST00000590514190844974765827747659539151040249291

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000336509255544974763467747635339371002227249
ENST000005866222969449747634677476353318201885227249
ENST000005884603629449747634677476353327252790227249
ENST0000059051419084497476346774763533849914227249
ENST000003365092555449747658277476595310031128249291
ENST000005866222969449747658277476595318862011249291
ENST000005884603629449747658277476595327912916249291
ENST00000590514190844974765827747659539151040249291

check button 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 featureDescription of feature
O4393451861449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O4393451861449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O4393451861449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O4393451861449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O4393451865373TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O4393451865373TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O4393451865373TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O4393451865373TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O4393451867494TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O4393451867494TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O4393451867494TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O4393451867494TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O439342272491449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O439342272491449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O439342272491449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O439342272491449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O43934227249239259TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934227249239259TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934227249239259TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934227249239259TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O439342492911449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O439342492911449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O439342492911449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O439342492911449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O43934249291239259TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934249291239259TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934249291239259TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934249291239259TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934249291277297TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934249291277297TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934249291277297TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934249291277297TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255


check button 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 featureDescription of feature
O439342272491449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O439342272491449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O439342272491449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O439342272491449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O43934227249239259TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934227249239259TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934227249239259TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934227249239259TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O439342492911449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O439342492911449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O439342492911449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O439342492911449ChainID=PRO_0000305019;Note=UNC93-like protein MFSD11
O43934249291239259TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934249291239259TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934249291239259TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934249291239259TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934249291277297TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934249291277297TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934249291277297TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O43934249291277297TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for MFSD11

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
MFSD11_BRCA_exon_skip_156579_psi_boxplot.png
boxplot
MFSD11_COAD_exon_skip_156579_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LUSCTCGA-18-4086-01exon_skip_156581
74771079747712537477114374771143Frame_Shift_DelG-p.L313fs
COADTCGA-CK-5916-01exon_skip_156573
74740404747405487474045274740453Frame_Shift_Ins-Gp.V130fs
BLCATCGA-CU-A3YL-01exon_skip_156567
74737039747371467473711274737112Nonsense_MutationCTp.Q76*
UCECTCGA-D1-A17Q-01exon_skip_156580
74765828747659537476594474765944Nonsense_MutationGTp.E289*
KIRPTCGA-BQ-5875-01exon_skip_156583
74772488747726237477262174772621Nonsense_MutationCTp.Q395*
KIRPTCGA-BQ-5875-01exon_skip_156583
74772488747726237477262174772621Nonsense_MutationCTp.Q395X
LUADTCGA-55-8511-01exon_skip_156583
74772488747726237477262174772621Nonsense_MutationCTp.Q395*
KIRPTCGA-AT-A5NU-01exon_skip_156568
exon_skip_156569
74738259747383557473835674738356Splice_SiteGA.
KIRPTCGA-AT-A5NU-01exon_skip_156568
exon_skip_156569
74738259747383557473835674738356Splice_SiteGAp.S146_splice
BRCATCGA-A2-A0EY-01exon_skip_156579
74763468747635337476346774763467Splice_SiteGAe9-1
COADTCGA-AM-5821-01exon_skip_156579
74763468747635337476353474763534Splice_SiteGA.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
MFSD11_74750128_74750169_74763467_74763533_74765827_74765922_TCGA-A2-A0EY-01Sample: TCGA-A2-A0EY-01
Cancer type: BRCA
ESID: exon_skip_156579
Skipped exon start: 74763468
Skipped exon end: 74763533
Mutation start: 74763467
Mutation end: 74763467
Mutation type: Splice_Site
Reference seq: G
Mutation seq: A
AAchange: e9-1
exon_skip_156579_BRCA_TCGA-A2-A0EY-01.png
boxplot
exon_skip_387350_BRCA_TCGA-A2-A0EY-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
SUM149PT_BREAST74740404747405487474042374740424Frame_Shift_Ins-Tp.F173fs
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74738259747383557473829374738293Missense_MutationCGp.I125M
HCC2998_LARGE_INTESTINE74739480747395387473949674739496Missense_MutationCAp.L152I
HS706T_BONE74740404747405487474044674740446Missense_MutationGAp.S180N
HEPG2_LIVER74740404747405487474045474740454Missense_MutationGAp.G183R
NCIH1869_LUNG74740404747405487474050974740509Missense_MutationACp.E201A
COLO679_SKIN74750129747501697475013174750131Missense_MutationCTp.S215F
SNB75_CENTRAL_NERVOUS_SYSTEM74763468747635337476350374763503Missense_MutationCTp.L240F
NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74763468747635337476350974763509Missense_MutationCTp.L242F
NCIH2110_LUNG74763468747635337476352174763521Missense_MutationATp.T246S
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74763468747635337476352474763524Missense_MutationGAp.A247T
NCIH378_LUNG74771079747712537477109374771093Missense_MutationGAp.G297S
NCIH2347_LUNG74771079747712537477111174771111Missense_MutationAGp.N303D
JHH1_LIVER74771079747712537477113974771139Missense_MutationTCp.L312P
SNGM_ENDOMETRIUM74771079747712537477119174771191Missense_MutationGAp.M329I
JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74772488747726237477250774772507Missense_MutationTAp.C357S
JVM3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74738259747383557473834874738348Nonsense_MutationCTp.Q144*
MOGGCCM_CENTRAL_NERVOUS_SYSTEM74750129747501697475012974750129Splice_SiteGAp.E214E
HEC251_ENDOMETRIUM74771079747712537477108074771080Splice_SiteTCp.G292G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MFSD11

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MFSD11


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MFSD11


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RelatedDrugs for MFSD11

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MFSD11

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource