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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 ENAH

check button Gene summary
Gene informationGene symbol

ENAH

Gene ID

55740

Gene nameENAH, actin regulator
SynonymsENA|MENA|NDPP1
Cytomap

1q42.12

Type of geneprotein-coding
Descriptionprotein enabled homologenabled homologmammalian enabled variant 11amammalian enabled variant pan
Modification date20180520
UniProtAcc

Q8N8S7

ContextPubMed: ENAH [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 ENAH 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 ENAH

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 ENAH

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_374711225685335:225685514:225686048:225686106:225688693:225688772225686048:225686106ENSG00000154380.12ENST00000366844.3,ENST00000284563.6,ENST00000498108.1,ENST00000358675.2,ENST00000483952.1,ENST00000366843.2
exon_skip_374731225686048:225686106:225688693:225688772:225695652:225695719225688693:225688772ENSG00000154380.12ENST00000284563.6,ENST00000483952.1,ENST00000366843.2
exon_skip_374751225688693:225688772:225692692:225692755:225695652:225695719225692692:225692755ENSG00000154380.12ENST00000366844.3,ENST00000358675.2
exon_skip_374831225700572:225700718:225702297:225702602:225704897:225705008225702297:225702602ENSG00000154380.12ENST00000366844.3,ENST00000284563.6,ENST00000366843.2
exon_skip_374891225702297:225702602:225704897:225705008:225706899:225706976225704897:225705008ENSG00000154380.12ENST00000366844.3,ENST00000366843.2
exon_skip_374911225702297:225702602:225704897:225705692:225706899:225706976225704897:225705692ENSG00000154380.12ENST00000284563.6
exon_skip_374941225706899:225707267:225718255:225718340:225742607:225742785225718255:225718340ENSG00000154380.12ENST00000366844.3,ENST00000391874.2,ENST00000497899.1,ENST00000366843.2
exon_skip_374971225718255:225718340:225723208:225723265:225742607:225742757225723208:225723265ENSG00000154380.12ENST00000284563.6
exon_skip_375021225742607:225742785:225754950:225755116:225840387:225840418225754950:225755116ENSG00000154380.12ENST00000284563.6,ENST00000366843.2

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

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Exon skipping events with PSIs in GTEx for ENAH

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_374711225685335:225685514:225686048:225686106:225688693:225688772225686048:225686106ENSG00000154380.12ENST00000366844.3,ENST00000358675.2,ENST00000366843.2,ENST00000284563.6,ENST00000498108.1,ENST00000483952.1
exon_skip_374731225686048:225686106:225688693:225688772:225695652:225695719225688693:225688772ENSG00000154380.12ENST00000366843.2,ENST00000284563.6,ENST00000483952.1
exon_skip_374751225688693:225688772:225692692:225692755:225695652:225695719225692692:225692755ENSG00000154380.12ENST00000366844.3,ENST00000358675.2
exon_skip_374831225700572:225700718:225702297:225702602:225704897:225705008225702297:225702602ENSG00000154380.12ENST00000366844.3,ENST00000366843.2,ENST00000284563.6
exon_skip_374891225702297:225702602:225704897:225705008:225706899:225706976225704897:225705008ENSG00000154380.12ENST00000366844.3,ENST00000366843.2
exon_skip_374911225702297:225702602:225704897:225705692:225706899:225706976225704897:225705692ENSG00000154380.12ENST00000284563.6
exon_skip_374941225706899:225707267:225718255:225718340:225742607:225742785225718255:225718340ENSG00000154380.12ENST00000366844.3,ENST00000366843.2,ENST00000497899.1,ENST00000391874.2
exon_skip_374971225718255:225718340:225723208:225723265:225742607:225742757225723208:225723265ENSG00000154380.12ENST00000284563.6

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 ENAH

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
ENST00000366844225686048225686106Frame-shift
ENST00000366844225702297225702602Frame-shift
ENST00000366844225718255225718340Frame-shift
ENST00000366844225692692225692755In-frame
ENST00000366844225704897225705008In-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
ENST00000366844225686048225686106Frame-shift
ENST00000366844225702297225702602Frame-shift
ENST00000366844225718255225718340Frame-shift
ENST00000366844225692692225692755In-frame
ENST00000366844225704897225705008In-frame

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

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
ENST000003668441318559122570489722570500812551365267304
ENST000003668441318559122569269222569275519912053513533

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
ENST000003668441318559122570489722570500812551365267304
ENST000003668441318559122569269222569275519912053513533

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
Q8N8S7267304268304Alternative sequenceID=VSP_053772;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:23129656;Dbxref=PMID:23129656
Q8N8S72673041591ChainID=PRO_0000086971;Note=Protein enabled homolog
Q8N8S7513533513533Alternative sequenceID=VSP_053773;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:23129656;Dbxref=PMID:23129656
Q8N8S7513533514534Alternative sequenceID=VSP_010564;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:0000303|Ref.1;Dbxref=PMID:14702039,PMID:15489334,PMID:1
Q8N8S75135331591ChainID=PRO_0000086971;Note=Protein enabled homolog
Q8N8S7513533391588RegionNote=EVH2


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
Q8N8S7267304268304Alternative sequenceID=VSP_053772;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:23129656;Dbxref=PMID:23129656
Q8N8S72673041591ChainID=PRO_0000086971;Note=Protein enabled homolog
Q8N8S7513533513533Alternative sequenceID=VSP_053773;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:23129656;Dbxref=PMID:23129656
Q8N8S7513533514534Alternative sequenceID=VSP_010564;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:0000303|Ref.1;Dbxref=PMID:14702039,PMID:15489334,PMID:1
Q8N8S75135331591ChainID=PRO_0000086971;Note=Protein enabled homolog
Q8N8S7513533391588RegionNote=EVH2


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SNVs in the skipped exons for ENAH

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.
ENAH_COAD_exon_skip_37475_psi_boxplot.png
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ENAH_KICH_exon_skip_37483_psi_boxplot.png
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ENAH_LIHC_exon_skip_37475_psi_boxplot.png
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ENAH_LIHC_exon_skip_37483_psi_boxplot.png
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ENAH_LIHC_exon_skip_37491_psi_boxplot.png
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ENAH_LIHC_exon_skip_37497_psi_boxplot.png
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check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A39Y-01exon_skip_37475
225692693225692755225692722225692722Frame_Shift_DelA-p.F524fs
LIHCTCGA-DD-A3A0-01exon_skip_37475
225692693225692755225692722225692722Frame_Shift_DelA-p.F524fs
COADTCGA-AA-3713-01exon_skip_37475
225692693225692755225692735225692735Frame_Shift_DelT-p.N520fs
LIHCTCGA-DD-A39Y-01exon_skip_37475
225692693225692755225692735225692735Frame_Shift_DelT-p.N520fs
LIHCTCGA-G3-A3CJ-01exon_skip_37475
225692693225692755225692735225692735Frame_Shift_DelT-p.N520fs
LIHCTCGA-DD-A39Y-01exon_skip_37491
225704898225705692225705524225705524Frame_Shift_DelG-p.P343fs
LIHCTCGA-DD-A1EG-01exon_skip_37497
225723209225723265225723242225723242Frame_Shift_DelG-p.Q125fs
LIHCTCGA-G3-A3CJ-01exon_skip_37502
225754951225755116225755076225755076Frame_Shift_DelA-p.Y16fs
LIHCTCGA-BC-A112-01exon_skip_37483
225702298225702602225702379225702380Frame_Shift_Ins-Ap.C379fs
LIHCTCGA-BC-A112-01exon_skip_37483
225702298225702602225702430225702431Frame_Shift_Ins-Gp.P362fs
LIHCTCGA-BC-A112-01exon_skip_37483
225702298225702602225702463225702464Frame_Shift_Ins-Gp.P351fs
KICHTCGA-KL-8334-01exon_skip_37483
225702298225702602225702514225702515Frame_Shift_Ins-Gp.P334fs
LIHCTCGA-BC-A112-01exon_skip_37491
225704898225705692225705415225705416Frame_Shift_Ins-Tp.I379fs
LIHCTCGA-BC-A112-01exon_skip_37491
225704898225705692225705460225705461Frame_Shift_Ins-Gp.R364fs
READTCGA-AG-A002-01exon_skip_37471
225686049225686106225686082225686082Nonsense_MutationCAp.E569X
SKCMTCGA-WE-A8K4-01exon_skip_37473
225688694225688772225688729225688729Nonsense_MutationGAp.Q549*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
ENAH_225718255_225718340_225723208_225723265_225742607_225742757_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_37497
Skipped exon start: 225723209
Skipped exon end: 225723265
Mutation start: 225723242
Mutation end: 225723242
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.Q125fs
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png
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ENAH_225702297_225702602_225704897_225705692_225706899_225706976_TCGA-BC-A112-01Sample: TCGA-BC-A112-01
Cancer type: LIHC
ESID: exon_skip_37483
Skipped exon start: 225702298
Skipped exon end: 225702602
Mutation start: 225702379
Mutation end: 225702380
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: A
AAchange: p.C379fs
ENAH_225702297_225702602_225704897_225705692_225706899_225706976_TCGA-BC-A112-01Sample: TCGA-BC-A112-01
Cancer type: LIHC
ESID: exon_skip_37483
Skipped exon start: 225702298
Skipped exon end: 225702602
Mutation start: 225702430
Mutation end: 225702431
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: G
AAchange: p.P362fs
ENAH_225702297_225702602_225704897_225705692_225706899_225706976_TCGA-BC-A112-01Sample: TCGA-BC-A112-01
Cancer type: LIHC
ESID: exon_skip_37483
Skipped exon start: 225702298
Skipped exon end: 225702602
Mutation start: 225702463
Mutation end: 225702464
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: G
AAchange: p.P351fs
ENAH_225702297_225702602_225704897_225705692_225706899_225706976_TCGA-BC-A112-01Sample: TCGA-BC-A112-01
Cancer type: LIHC
ESID: exon_skip_37491
Skipped exon start: 225704898
Skipped exon end: 225705692
Mutation start: 225705415
Mutation end: 225705416
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: T
AAchange: p.I379fs
ENAH_225702297_225702602_225704897_225705692_225706899_225706976_TCGA-BC-A112-01Sample: TCGA-BC-A112-01
Cancer type: LIHC
ESID: exon_skip_37491
Skipped exon start: 225704898
Skipped exon end: 225705692
Mutation start: 225705460
Mutation end: 225705461
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: G
AAchange: p.R364fs
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ENAH_225702297_225702602_225704897_225705692_225706899_225706976_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_37475
Skipped exon start: 225692693
Skipped exon end: 225692755
Mutation start: 225692722
Mutation end: 225692722
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.F524fs
ENAH_225702297_225702602_225704897_225705692_225706899_225706976_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_37475
Skipped exon start: 225692693
Skipped exon end: 225692755
Mutation start: 225692735
Mutation end: 225692735
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.N520fs
ENAH_225702297_225702602_225704897_225705692_225706899_225706976_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_37491
Skipped exon start: 225704898
Skipped exon end: 225705692
Mutation start: 225705524
Mutation end: 225705524
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.P343fs
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ENAH_225700572_225700718_225702297_225702602_225704897_225705008_TCGA-KL-8334-01Sample: TCGA-KL-8334-01
Cancer type: KICH
ESID: exon_skip_37483
Skipped exon start: 225702298
Skipped exon end: 225702602
Mutation start: 225702514
Mutation end: 225702515
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: G
AAchange: p.P334fs
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ENAH_225700572_225700718_225702297_225702602_225704897_225705008_TCGA-BC-A112-01Sample: TCGA-BC-A112-01
Cancer type: LIHC
ESID: exon_skip_37483
Skipped exon start: 225702298
Skipped exon end: 225702602
Mutation start: 225702379
Mutation end: 225702380
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: A
AAchange: p.C379fs
ENAH_225700572_225700718_225702297_225702602_225704897_225705008_TCGA-BC-A112-01Sample: TCGA-BC-A112-01
Cancer type: LIHC
ESID: exon_skip_37483
Skipped exon start: 225702298
Skipped exon end: 225702602
Mutation start: 225702430
Mutation end: 225702431
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: G
AAchange: p.P362fs
ENAH_225700572_225700718_225702297_225702602_225704897_225705008_TCGA-BC-A112-01Sample: TCGA-BC-A112-01
Cancer type: LIHC
ESID: exon_skip_37483
Skipped exon start: 225702298
Skipped exon end: 225702602
Mutation start: 225702463
Mutation end: 225702464
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: G
AAchange: p.P351fs
ENAH_225700572_225700718_225702297_225702602_225704897_225705008_TCGA-BC-A112-01Sample: TCGA-BC-A112-01
Cancer type: LIHC
ESID: exon_skip_37491
Skipped exon start: 225704898
Skipped exon end: 225705692
Mutation start: 225705415
Mutation end: 225705416
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: T
AAchange: p.I379fs
ENAH_225700572_225700718_225702297_225702602_225704897_225705008_TCGA-BC-A112-01Sample: TCGA-BC-A112-01
Cancer type: LIHC
ESID: exon_skip_37491
Skipped exon start: 225704898
Skipped exon end: 225705692
Mutation start: 225705460
Mutation end: 225705461
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: G
AAchange: p.R364fs
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ENAH_225688693_225688772_225692692_225692755_225695652_225695719_TCGA-AA-3713-01Sample: TCGA-AA-3713-01
Cancer type: COAD
ESID: exon_skip_37475
Skipped exon start: 225692693
Skipped exon end: 225692755
Mutation start: 225692735
Mutation end: 225692735
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.N520fs
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ENAH_225688693_225688772_225692692_225692755_225695652_225695719_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_37475
Skipped exon start: 225692693
Skipped exon end: 225692755
Mutation start: 225692722
Mutation end: 225692722
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.F524fs
ENAH_225688693_225688772_225692692_225692755_225695652_225695719_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_37475
Skipped exon start: 225692693
Skipped exon end: 225692755
Mutation start: 225692735
Mutation end: 225692735
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.N520fs
ENAH_225688693_225688772_225692692_225692755_225695652_225695719_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_37491
Skipped exon start: 225704898
Skipped exon end: 225705692
Mutation start: 225705524
Mutation end: 225705524
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.P343fs
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
BICR18_UPPER_AERODIGESTIVE_TRACT225702298225702602225702377225702377Frame_Shift_DelG-p.A380fs
HEC251_ENDOMETRIUM225718256225718340225718290225718291Frame_Shift_Ins-Ap.G134fs
KYSE450_OESOPHAGUS225702298225702602225702563225702571In_Frame_DelGGTGGAGGA-p.315_318PPPP>P
COV504_OVARY225688694225688772225688696225688696Missense_MutationGTp.Q560K
HCT15_LARGE_INTESTINE225688694225688772225688726225688726Missense_MutationTAp.T550S
M059J_CENTRAL_NERVOUS_SYSTEM225688694225688772225688752225688752Missense_MutationGAp.S541L
M059K_CENTRAL_NERVOUS_SYSTEM225688694225688772225688752225688752Missense_MutationGAp.S541L
BICR18_UPPER_AERODIGESTIVE_TRACT225692693225692755225692712225692712Missense_MutationACp.S528A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE225692693225692755225692712225692712Missense_MutationACp.S528A
BICR18_UPPER_AERODIGESTIVE_TRACT225692693225692755225692738225692738Missense_MutationTCp.K519R
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE225692693225692755225692738225692738Missense_MutationTCp.K519R
KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE225702298225702602225702342225702342Missense_MutationGAp.L392F
SISO_CERVIX225702298225702602225702356225702356Missense_MutationCTp.R387H
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE225702298225702602225702356225702356Missense_MutationCTp.R387H
MZ7MEL_SKIN225702298225702602225702425225702425Missense_MutationGAp.P364L
KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE225702298225702602225702510225702510Missense_MutationGAp.P336S
MIAPACA2_PANCREAS225704898225705008225704928225704928Missense_MutationACp.S295A
MIAPACA2_PANCREAS225704898225705692225704928225704928Missense_MutationACp.S295A
H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE225704898225705008225704964225704964Missense_MutationCTp.D283N
H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE225704898225705692225704964225704964Missense_MutationCTp.D283N
HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE225704898225705008225704964225704964Missense_MutationCTp.D283N
HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE225704898225705692225704964225704964Missense_MutationCTp.D283N
GP2D_LARGE_INTESTINE225704898225705008225704999225704999Missense_MutationGAp.A271V
GP2D_LARGE_INTESTINE225704898225705692225704999225704999Missense_MutationGAp.A271V
GP5D_LARGE_INTESTINE225704898225705008225704999225704999Missense_MutationGAp.A271V
GP5D_LARGE_INTESTINE225704898225705692225704999225704999Missense_MutationGAp.A271V
NCIH650_LUNG225718256225718340225718283225718283Missense_MutationGTp.S136Y
DOV13_OVARY225754951225755116225754958225754958Missense_MutationTCp.D55G
HS294T_SKIN225754951225755116225754958225754958Missense_MutationTCp.D55G
NCIH522_LUNG225754951225755116225755037225755037Missense_MutationACp.S29A
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE225754951225755116225755070225755070Missense_MutationCTp.D18N
JHUEM7_ENDOMETRIUM225686049225686106225686082225686082Nonsense_MutationCAp.E569*
LOVO_LARGE_INTESTINE225704898225705008225704937225704937Nonsense_MutationGAp.Q292*
LOVO_LARGE_INTESTINE225704898225705692225704937225704937Nonsense_MutationGAp.Q292*
SNU1040_LARGE_INTESTINE225718256225718340225718339225718339Splice_SiteCTp.G117G

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

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 ENAH


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


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RelatedDrugs for ENAH

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 ENAH

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
ENAHC0023467Leukemia, Myelocytic, Acute1CTD_human