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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 MYRF

check button Gene summary
Gene informationGene symbol

MYRF

Gene ID

745

Gene namemyelin regulatory factor
SynonymsC11orf9|MRF|Ndt80|pqn-47
Cytomap

11q12.2

Type of geneprotein-coding
Descriptionmyelin regulatory factormyelin gene regulatory factor
Modification date20180523
UniProtAcc

Q9Y2G1

ContextPubMed: MYRF [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 MYRF 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 MYRF

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 MYRF

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_599261161533096:61533184:61533429:61533693:61536731:6153678661533429:61533693ENSG00000124920.9ENST00000278836.5,ENST00000265460.5
exon_skip_599411161536731:61536793:61537717:61537997:61538971:6153922261537717:61537997ENSG00000124920.9ENST00000278836.5,ENST00000265460.5
exon_skip_599501161543793:61543904:61544258:61544349:61544735:6154493661544258:61544349ENSG00000124920.9ENST00000278836.5,ENST00000265460.5,ENST00000327797.1
exon_skip_599581161546759:61546895:61546969:61547042:61547313:6154740261546969:61547042ENSG00000124920.9ENST00000278836.5,ENST00000389602.4,ENST00000265460.5,ENST00000537318.1
exon_skip_599591161546759:61546895:61546969:61547048:61547313:6154740261546969:61547048ENSG00000124920.9ENST00000327797.1
exon_skip_599611161547313:61547402:61547693:61547762:61548431:6154851761547693:61547762ENSG00000124920.9ENST00000537318.1
exon_skip_599631161547693:61547762:61548183:61548264:61548431:6154851761548183:61548264ENSG00000124920.9ENST00000278836.5,ENST00000389602.4,ENST00000536352.1
exon_skip_599641161547693:61547762:61548428:61548517:61548609:6154880161548428:61548517ENSG00000124920.9ENST00000546247.1,ENST00000265460.5
exon_skip_599651161547693:61547762:61548431:61548517:61548609:6154880161548431:61548517ENSG00000124920.9ENST00000537318.1
exon_skip_599661161548609:61548801:61549044:61549296:61550969:6155107261549044:61549296ENSG00000124920.9ENST00000278836.5
exon_skip_599671161548628:61548801:61549044:61549296:61550984:6155101761549044:61549296ENSG00000124920.9ENST00000546247.1,ENST00000389602.4,ENST00000265460.5
exon_skip_599701161551751:61551857:61553271:61553346:61553534:6155388961553271:61553346ENSG00000124920.9ENST00000278836.5,ENST00000389602.4,ENST00000265460.5

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

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Exon skipping events with PSIs in GTEx for MYRF

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_599261161533096:61533184:61533429:61533693:61536731:6153678661533429:61533693ENSG00000124920.9ENST00000278836.5,ENST00000265460.5
exon_skip_599411161536731:61536793:61537717:61537997:61538971:6153922261537717:61537997ENSG00000124920.9ENST00000278836.5,ENST00000265460.5
exon_skip_599501161543793:61543904:61544258:61544349:61544735:6154493661544258:61544349ENSG00000124920.9ENST00000278836.5,ENST00000265460.5,ENST00000327797.1
exon_skip_599581161546759:61546895:61546969:61547042:61547313:6154740261546969:61547042ENSG00000124920.9ENST00000278836.5,ENST00000265460.5,ENST00000389602.4,ENST00000537318.1
exon_skip_599591161546759:61546895:61546969:61547048:61547313:6154740261546969:61547048ENSG00000124920.9ENST00000327797.1
exon_skip_599611161547313:61547402:61547693:61547762:61548431:6154851761547693:61547762ENSG00000124920.9ENST00000537318.1
exon_skip_599631161547693:61547762:61548183:61548264:61548431:6154851761548183:61548264ENSG00000124920.9ENST00000278836.5,ENST00000389602.4,ENST00000536352.1
exon_skip_599641161547693:61547762:61548428:61548517:61548609:6154880161548428:61548517ENSG00000124920.9ENST00000265460.5,ENST00000546247.1
exon_skip_599651161547693:61547762:61548431:61548517:61548609:6154880161548431:61548517ENSG00000124920.9ENST00000537318.1
exon_skip_599661161548609:61548801:61549044:61549296:61550969:6155107261549044:61549296ENSG00000124920.9ENST00000278836.5
exon_skip_599671161548628:61548801:61549044:61549296:61550984:6155101761549044:61549296ENSG00000124920.9ENST00000265460.5,ENST00000389602.4,ENST00000546247.1
exon_skip_599701161551751:61551857:61553271:61553346:61553534:6155388961553271:61553346ENSG00000124920.9ENST00000278836.5,ENST00000265460.5,ENST00000389602.4

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 MYRF

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
ENST000002788366153771761537997Frame-shift
ENST000002788366154425861544349Frame-shift
ENST000002788366154696961547042Frame-shift
ENST000002788366153342961533693In-frame
ENST000002788366154818361548264In-frame
ENST000002788366154904461549296In-frame
ENST000002788366155327161553346In-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
ENST000002788366153771761537997Frame-shift
ENST000002788366154425861544349Frame-shift
ENST000002788366154696961547042Frame-shift
ENST000002788366153342961533693In-frame
ENST000002788366154818361548264In-frame
ENST000002788366154904461549296In-frame
ENST000002788366155327161553346In-frame

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

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
ENST0000027883659441151615334296153369323149445132
ENST0000027883659441151615481836154826425022582802828
ENST00000278836594411516154904461549296286131129211005
ENST000002788365944115161553271615533463397347111001125

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
ENST0000027883659441151615334296153369323149445132
ENST0000027883659441151615481836154826425022582802828
ENST00000278836594411516154904461549296286131129211005
ENST000002788365944115161553271615533463397347111001125

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
Q9Y2G14513211151ChainID=PRO_0000318919;Note=Myelin regulatory factor
Q9Y2G1451321586ChainID=PRO_0000424310;Note=Myelin regulatory factor%2C N-terminal;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:23966832;Dbxref=PMID:23966832
Q9Y2G14513277330Compositional biasNote=Pro-rich
Q9Y2G145132123123Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
Q9Y2G1451321768Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y2G1802828803829Alternative sequenceID=VSP_031301;Note=In isoform 2. SFAVSTSCLLALLRPQPPGGSEALCPW->R;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10828591;Dbxref=PMID:10828591
Q9Y2G180282811151ChainID=PRO_0000318919;Note=Myelin regulatory factor
Q9Y2G18028285871151ChainID=PRO_0000424311;Note=Myelin regulatory factor%2C C-terminal;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:23966832;Dbxref=PMID:23966832
Q9Y2G18028287901151Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y2G1921100511151ChainID=PRO_0000318919;Note=Myelin regulatory factor
Q9Y2G192110055871151ChainID=PRO_0000424311;Note=Myelin regulatory factor%2C C-terminal;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:23966832;Dbxref=PMID:23966832
Q9Y2G192110057901151Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y2G11100112511151ChainID=PRO_0000318919;Note=Myelin regulatory factor
Q9Y2G1110011255871151ChainID=PRO_0000424311;Note=Myelin regulatory factor%2C C-terminal;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:23966832;Dbxref=PMID:23966832
Q9Y2G1110011257901151Topological domainNote=Lumenal;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
Q9Y2G14513211151ChainID=PRO_0000318919;Note=Myelin regulatory factor
Q9Y2G1451321586ChainID=PRO_0000424310;Note=Myelin regulatory factor%2C N-terminal;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:23966832;Dbxref=PMID:23966832
Q9Y2G14513277330Compositional biasNote=Pro-rich
Q9Y2G145132123123Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
Q9Y2G1451321768Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y2G1802828803829Alternative sequenceID=VSP_031301;Note=In isoform 2. SFAVSTSCLLALLRPQPPGGSEALCPW->R;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10828591;Dbxref=PMID:10828591
Q9Y2G180282811151ChainID=PRO_0000318919;Note=Myelin regulatory factor
Q9Y2G18028285871151ChainID=PRO_0000424311;Note=Myelin regulatory factor%2C C-terminal;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:23966832;Dbxref=PMID:23966832
Q9Y2G18028287901151Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y2G1921100511151ChainID=PRO_0000318919;Note=Myelin regulatory factor
Q9Y2G192110055871151ChainID=PRO_0000424311;Note=Myelin regulatory factor%2C C-terminal;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:23966832;Dbxref=PMID:23966832
Q9Y2G192110057901151Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y2G11100112511151ChainID=PRO_0000318919;Note=Myelin regulatory factor
Q9Y2G1110011255871151ChainID=PRO_0000424311;Note=Myelin regulatory factor%2C C-terminal;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:23966832;Dbxref=PMID:23966832
Q9Y2G1110011257901151Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for MYRF

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.
MYRF_STAD_exon_skip_59926_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
STADTCGA-BR-6566-01exon_skip_59926
61533430615336936153356961533569Frame_Shift_DelC-p.P91fs
STADTCGA-BR-4362-01exon_skip_59926
61533430615336936153364061533640Frame_Shift_DelG-p.P115fs
LIHCTCGA-G3-A3CJ-01exon_skip_59941
61537718615379976153788861537888Frame_Shift_DelC-p.P212fs
ESCATCGA-LN-A49P-01exon_skip_59941
61537718615379976153789061537893Frame_Shift_DelCCCG-p.P212fs
ESCATCGA-LN-A49P-01exon_skip_59941
61537718615379976153789061537893Frame_Shift_DelCCCG-p.PP211fs
ESCATCGA-LN-A49P-01exon_skip_59941
61537718615379976153789561537907Frame_Shift_DelTCCCCCACTACGC-p.IPHYA213fs
LIHCTCGA-DD-A39Y-01exon_skip_59941
61537718615379976153789661537896Frame_Shift_DelC-p.I213fs
HNSCTCGA-UF-A7JH-01exon_skip_59950
61544259615443496154427461544274Frame_Shift_DelG-p.V506fs
LIHCTCGA-DD-A3A0-01exon_skip_59958
61546970615470426154702261547022Frame_Shift_DelC-p.P744fs
LIHCTCGA-DD-A3A0-01exon_skip_59959
61546970615470486154702261547022Frame_Shift_DelC-p.P744fs
PCPGTCGA-P7-A5NY-05exon_skip_59958
61546970615470426154702261547022Frame_Shift_DelC-p.P744fs
PCPGTCGA-P7-A5NY-05exon_skip_59959
61546970615470486154702261547022Frame_Shift_DelC-p.P744fs
LIHCTCGA-DD-A3A0-01exon_skip_59963
61548184615482646154822761548227Frame_Shift_DelC-p.P817fs
LIHCTCGA-G3-A3CJ-01exon_skip_59967
exon_skip_59966
61549045615492966154917961549179Frame_Shift_DelG-p.G968fs
LIHCTCGA-UB-AA0U-01exon_skip_59926
61533430615336936153363661533637Frame_Shift_Ins-Cp.F114fs
PAADTCGA-FB-AAQ1-01exon_skip_59967
exon_skip_59966
61549045615492966154922561549226Frame_Shift_Ins-Cp.A982fs
PAADTCGA-FB-AAQ1-01exon_skip_59967
exon_skip_59966
61549045615492966154922561549226Frame_Shift_Ins-Cp.G982fs
KIRCTCGA-B0-5712-01exon_skip_59967
exon_skip_59966
61549045615492966154923661549236Nonsense_MutationCTp.R986*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
MYRF_61548628_61548801_61549044_61549296_61550984_61551017_TCGA-FB-AAQ1-01Sample: TCGA-FB-AAQ1-01
Cancer type: PAAD
ESID: exon_skip_59966
Skipped exon start: 61549045
Skipped exon end: 61549296
Mutation start: 61549225
Mutation end: 61549226
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: C
AAchange: p.G982fs
MYRF_61548628_61548801_61549044_61549296_61550984_61551017_TCGA-FB-AAQ1-01Sample: TCGA-FB-AAQ1-01
Cancer type: PAAD
ESID: exon_skip_59966
Skipped exon start: 61549045
Skipped exon end: 61549296
Mutation start: 61549225
Mutation end: 61549226
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: C
AAchange: p.A982fs
exon_skip_286384_PAAD_TCGA-FB-AAQ1-01.png
boxplot
exon_skip_59967_PAAD_TCGA-FB-AAQ1-01.png
boxplot
MYRF_61533096_61533184_61533429_61533693_61536731_61536786_TCGA-BR-6566-01Sample: TCGA-BR-6566-01
Cancer type: STAD
ESID: exon_skip_59926
Skipped exon start: 61533430
Skipped exon end: 61533693
Mutation start: 61533569
Mutation end: 61533569
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.P91fs
exon_skip_135112_STAD_TCGA-BR-6566-01.png
boxplot
exon_skip_135114_STAD_TCGA-BR-6566-01.png
boxplot
exon_skip_386802_STAD_TCGA-BR-6566-01.png
boxplot
exon_skip_478923_STAD_TCGA-BR-6566-01.png
boxplot
exon_skip_478926_STAD_TCGA-BR-6566-01.png
boxplot
exon_skip_512765_STAD_TCGA-BR-6566-01.png
boxplot
exon_skip_512766_STAD_TCGA-BR-6566-01.png
boxplot
exon_skip_59926_STAD_TCGA-BR-6566-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
NCIH23_LUNG61533430615336936153362961533629Frame_Shift_DelA-p.K112fs
HEC59_ENDOMETRIUM61533430615336936153363961533640Frame_Shift_Ins-Gp.PG115fs
MCIXC_AUTONOMIC_GANGLIA61533430615336936153344761533447Missense_MutationCGp.S51C
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61533430615336936153346461533464Missense_MutationGAp.A57T
PANC0327_PANCREAS61533430615336936153352761533527Missense_MutationCGp.P78A
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61533430615336936153353661533536Missense_MutationGAp.G81R
HEC1A_ENDOMETRIUM61533430615336936153355161533551Missense_MutationCTp.R86C
HEC1_ENDOMETRIUM61533430615336936153355161533551Missense_MutationCTp.R86C
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61533430615336936153355161533551Missense_MutationCTp.R86C
HEC1B_ENDOMETRIUM61533430615336936153355161533551Missense_MutationCTp.R86C
SNU175_LARGE_INTESTINE61533430615336936153358161533581Missense_MutationGAp.G96S
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61533430615336936153358861533588Missense_MutationCTp.P98L
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61533430615336936153362361533623Missense_MutationGAp.A110T
OCILY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61533430615336936153363961533639Missense_MutationCGp.P115R
SKMEL3_SKIN61533430615336936153363961533639Missense_MutationCAp.P115Q
KNS62_LUNG61537718615379976153781761537817Missense_MutationGTp.G187V
KYSE180_OESOPHAGUS61537718615379976153782061537820Missense_MutationCTp.P188L
EFO27_OVARY61537718615379976153790661537906Missense_MutationGAp.A217T
NCIH1944_LUNG61537718615379976153798461537984Missense_MutationCAp.Q243K
RKO_LARGE_INTESTINE61537718615379976153798861537988Missense_MutationAGp.H244R
TOV21G_OVARY61544259615443496154430161544301Missense_MutationCGp.N514K
DAOY_CENTRAL_NERVOUS_SYSTEM61544259615443496154431261544312Missense_MutationCTp.T518M
OVCAR8_OVARY61546970615470426154697861546978Missense_MutationGTp.G728V
OVCAR8_OVARY61546970615470486154697861546978Missense_MutationGTp.G728V
EMCBAC1_LUNG61547694615477626154775361547753Missense_MutationACp.D799A
MKN1_STOMACH61548184615482646154819461548194Missense_MutationGAp.V806M
OSRC2_KIDNEY61548184615482646154819461548194Missense_MutationGAp.V806M
JHH7_LIVER61548184615482646154824361548243Missense_MutationGAp.G822E
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61548432615485176154844861548448Missense_MutationGTp.G835W
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61548429615485176154844861548448Missense_MutationGTp.G835W
GSS_STOMACH61549045615492966154918961549189Missense_MutationGAp.G970D
SNU1040_LARGE_INTESTINE61549045615492966154918961549189Missense_MutationGAp.G970D
CL34_LARGE_INTESTINE61549045615492966154921061549210Missense_MutationGAp.S977N
CL34_LARGE_INTESTINE61549045615492966154921061549211Missense_MutationGCAAp.S977K
CL34_LARGE_INTESTINE61549045615492966154921161549211Missense_MutationCAp.S977R
KS1_CENTRAL_NERVOUS_SYSTEM61549045615492966154921361549213Missense_MutationTGp.L978R
MEWO_SKIN61549045615492966154926161549261Missense_MutationGCp.G994A
CL34_LARGE_INTESTINE61553272615533466155333261553332Missense_MutationCTp.R1121W
MKN7_STOMACH61548432615485176154851661548516Splice_SiteGCp.L857L
MKN7_STOMACH61548429615485176154851661548516Splice_SiteGCp.L857L

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

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 MYRF


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


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RelatedDrugs for MYRF

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 MYRF

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