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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 ANKAR

check button Gene summary
Gene informationGene symbol

ANKAR

Gene ID

150709

Gene nameankyrin and armadillo repeat containing
Synonyms-
Cytomap

2q32.2

Type of geneprotein-coding
Descriptionankyrin and armadillo repeat-containing protein
Modification date20180522
UniProtAcc

Q7Z5J8

ContextPubMed: ANKAR [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 ANKAR 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 ANKAR

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 ANKAR

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3318032190561026:190561095:190569748:190569950:190571663:190571868190569748:190569950ENSG00000151687.10ENST00000431575.2,ENST00000441800.1,ENST00000281412.6,ENST00000313581.4,ENST00000520309.1,ENST00000438402.2,ENST00000433782.2
exon_skip_3318062190571663:190571872:190575774:190575879:190584297:190584539190575774:190575879ENSG00000151687.10ENST00000431575.2,ENST00000441800.1,ENST00000281412.6,ENST00000313581.4,ENST00000520309.1,ENST00000438402.2,ENST00000433782.2
exon_skip_3318072190584297:190584539:190585344:190585513:190592581:190592823190585344:190585513ENSG00000151687.10ENST00000431575.2,ENST00000313581.4,ENST00000520309.1,ENST00000438402.2,ENST00000433782.2
exon_skip_3318142190592581:190592823:190592992:190593146:190602408:190602567190592992:190593146ENSG00000151687.10ENST00000441800.1,ENST00000281412.6
exon_skip_3318162190593078:190593146:190593385:190593547:190602408:190602567190593385:190593547ENSG00000151687.10ENST00000438402.2,ENST00000433782.2
exon_skip_3318222190593078:190593146:190602408:190602567:190603290:190603408190602408:190602567ENSG00000151687.10ENST00000441800.1,ENST00000281412.6
exon_skip_3318262190593385:190593547:190595220:190595327:190597832:190597955190595220:190595327ENSG00000151687.10ENST00000431575.2,ENST00000313581.4,ENST00000520309.1
exon_skip_3318322190593385:190593547:190602408:190602567:190603290:190603408190602408:190602567ENSG00000151687.10ENST00000438402.2,ENST00000433782.2
exon_skip_3318352190597832:190597955:190602408:190602567:190603290:190603408190602408:190602567ENSG00000151687.10ENST00000431575.2,ENST00000313581.4,ENST00000520309.1
exon_skip_3318382190602408:190602567:190603290:190603408:190606067:190606177190603290:190603408ENSG00000151687.10ENST00000431575.2,ENST00000441800.1,ENST00000281412.6,ENST00000313581.4,ENST00000520309.1,ENST00000438402.2,ENST00000433782.2
exon_skip_3318392190606067:190606177:190608000:190608200:190609467:190609514190608000:190608200ENSG00000151687.10ENST00000431575.2,ENST00000441800.1,ENST00000281412.6,ENST00000313581.4,ENST00000520309.1,ENST00000438402.2

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

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Exon skipping events with PSIs in GTEx for ANKAR

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3317952190554252:190554690:190556980:190557144:190557799:190557903190556980:190557144ENSG00000151687.10ENST00000441800.1,ENST00000520309.1,ENST00000433782.2,ENST00000313581.4,ENST00000438402.2,ENST00000431575.2,ENST00000281412.6
exon_skip_3318022190557799:190557903:190559706:190559887:190560875:190560926190559706:190559887ENSG00000151687.10ENST00000441800.1,ENST00000520309.1,ENST00000433782.2,ENST00000313581.4,ENST00000438402.2,ENST00000431575.2,ENST00000281412.6
exon_skip_3318032190561026:190561095:190569748:190569950:190571663:190571868190569748:190569950ENSG00000151687.10ENST00000441800.1,ENST00000520309.1,ENST00000433782.2,ENST00000313581.4,ENST00000438402.2,ENST00000431575.2,ENST00000281412.6
exon_skip_3318062190571663:190571872:190575774:190575879:190584297:190584539190575774:190575879ENSG00000151687.10ENST00000441800.1,ENST00000520309.1,ENST00000433782.2,ENST00000313581.4,ENST00000438402.2,ENST00000431575.2,ENST00000281412.6
exon_skip_3318072190584297:190584539:190585344:190585513:190592581:190592823190585344:190585513ENSG00000151687.10ENST00000520309.1,ENST00000433782.2,ENST00000313581.4,ENST00000438402.2,ENST00000431575.2
exon_skip_3318142190592581:190592823:190592992:190593146:190602408:190602567190592992:190593146ENSG00000151687.10ENST00000441800.1,ENST00000281412.6
exon_skip_3318162190593078:190593146:190593385:190593547:190602408:190602567190593385:190593547ENSG00000151687.10ENST00000433782.2,ENST00000438402.2
exon_skip_3318222190593078:190593146:190602408:190602567:190603290:190603408190602408:190602567ENSG00000151687.10ENST00000441800.1,ENST00000281412.6
exon_skip_3318262190593385:190593547:190595220:190595327:190597832:190597955190595220:190595327ENSG00000151687.10ENST00000520309.1,ENST00000313581.4,ENST00000431575.2
exon_skip_3318322190593385:190593547:190602408:190602567:190603290:190603408190602408:190602567ENSG00000151687.10ENST00000433782.2,ENST00000438402.2
exon_skip_3318352190597832:190597955:190602408:190602567:190603290:190603408190602408:190602567ENSG00000151687.10ENST00000520309.1,ENST00000313581.4,ENST00000431575.2
exon_skip_3318382190602408:190602567:190603290:190603408:190606067:190606177190603290:190603408ENSG00000151687.10ENST00000441800.1,ENST00000520309.1,ENST00000433782.2,ENST00000313581.4,ENST00000438402.2,ENST00000431575.2,ENST00000281412.6
exon_skip_3318392190606067:190606177:190608000:190608200:190609467:190609514190608000:190608200ENSG00000151687.10ENST00000441800.1,ENST00000520309.1,ENST00000313581.4,ENST00000438402.2,ENST00000431575.2,ENST00000281412.6

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 ANKAR

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
ENST00000313581190569748190569950Frame-shift
ENST00000520309190569748190569950Frame-shift
ENST00000313581190585344190585513Frame-shift
ENST00000520309190585344190585513Frame-shift
ENST00000313581190595220190595327Frame-shift
ENST00000520309190595220190595327Frame-shift
ENST00000313581190603290190603408Frame-shift
ENST00000520309190603290190603408Frame-shift
ENST00000313581190608000190608200Frame-shift
ENST00000520309190608000190608200Frame-shift
ENST00000313581190575774190575879In-frame
ENST00000520309190575774190575879In-frame
ENST00000313581190602408190602567In-frame
ENST00000520309190602408190602567In-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
ENST00000313581190556980190557144Frame-shift
ENST00000520309190556980190557144Frame-shift
ENST00000313581190559706190559887Frame-shift
ENST00000520309190559706190559887Frame-shift
ENST00000313581190569748190569950Frame-shift
ENST00000520309190569748190569950Frame-shift
ENST00000313581190585344190585513Frame-shift
ENST00000520309190585344190585513Frame-shift
ENST00000313581190595220190595327Frame-shift
ENST00000520309190595220190595327Frame-shift
ENST00000313581190603290190603408Frame-shift
ENST00000520309190603290190603408Frame-shift
ENST00000313581190608000190608200Frame-shift
ENST00000520309190608000190608200Frame-shift
ENST00000313581190575774190575879In-frame
ENST00000520309190575774190575879In-frame
ENST00000313581190602408190602567In-frame
ENST00000520309190602408190602567In-frame

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

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
ENST000003135814408143419057577419057587921842288706741
ENST000005203094427143419057577419057587922082312706741
ENST00000313581440814341906024081906025673488364611411194
ENST00000520309442714341906024081906025673512367011411194

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
ENST000003135814408143419057577419057587921842288706741
ENST000005203094427143419057577419057587922082312706741
ENST00000313581440814341906024081906025673488364611411194
ENST00000520309442714341906024081906025673512367011411194

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
Q7Z5J8706741706716Alternative sequenceID=VSP_025168;Note=In isoform 4. VEMLQCESYKR->KCYSVKAINEG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5J8706741706716Alternative sequenceID=VSP_025168;Note=In isoform 4. VEMLQCESYKR->KCYSVKAINEG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5J87067417171434Alternative sequenceID=VSP_025169;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5J87067417171434Alternative sequenceID=VSP_025169;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5J870674111434ChainID=PRO_0000286806;Note=Ankyrin and armadillo repeat-containing protein
Q7Z5J870674111434ChainID=PRO_0000286806;Note=Ankyrin and armadillo repeat-containing protein
Q7Z5J8706741732771RepeatNote=ARM 1
Q7Z5J8706741732771RepeatNote=ARM 1
Q7Z5J8114111947171434Alternative sequenceID=VSP_025169;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5J8114111947171434Alternative sequenceID=VSP_025169;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5J81141119410271434Alternative sequenceID=VSP_025172;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5J81141119410271434Alternative sequenceID=VSP_025172;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5J81141119410811434Alternative sequenceID=VSP_025174;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z5J81141119410811434Alternative sequenceID=VSP_025174;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z5J81141119411434ChainID=PRO_0000286806;Note=Ankyrin and armadillo repeat-containing protein
Q7Z5J81141119411434ChainID=PRO_0000286806;Note=Ankyrin and armadillo repeat-containing protein


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
Q7Z5J8706741706716Alternative sequenceID=VSP_025168;Note=In isoform 4. VEMLQCESYKR->KCYSVKAINEG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5J8706741706716Alternative sequenceID=VSP_025168;Note=In isoform 4. VEMLQCESYKR->KCYSVKAINEG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5J87067417171434Alternative sequenceID=VSP_025169;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5J87067417171434Alternative sequenceID=VSP_025169;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5J870674111434ChainID=PRO_0000286806;Note=Ankyrin and armadillo repeat-containing protein
Q7Z5J870674111434ChainID=PRO_0000286806;Note=Ankyrin and armadillo repeat-containing protein
Q7Z5J8706741732771RepeatNote=ARM 1
Q7Z5J8706741732771RepeatNote=ARM 1
Q7Z5J8114111947171434Alternative sequenceID=VSP_025169;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5J8114111947171434Alternative sequenceID=VSP_025169;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5J81141119410271434Alternative sequenceID=VSP_025172;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5J81141119410271434Alternative sequenceID=VSP_025172;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5J81141119410811434Alternative sequenceID=VSP_025174;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z5J81141119410811434Alternative sequenceID=VSP_025174;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z5J81141119411434ChainID=PRO_0000286806;Note=Ankyrin and armadillo repeat-containing protein
Q7Z5J81141119411434ChainID=PRO_0000286806;Note=Ankyrin and armadillo repeat-containing protein


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SNVs in the skipped exons for ANKAR

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.

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-A1EG-01exon_skip_331803
190569749190569950190569800190569800Frame_Shift_DelT-p.V587fs
LIHCTCGA-DD-A1EG-01exon_skip_331803
190569749190569950190569839190569839Frame_Shift_DelA-p.E600fs
LIHCTCGA-DD-A39Y-01exon_skip_331803
190569749190569950190569839190569839Frame_Shift_DelA-p.E600fs
LIHCTCGA-G3-A3CJ-01exon_skip_331803
190569749190569950190569839190569839Frame_Shift_DelA-p.E600fs
LIHCTCGA-DD-A3A0-01exon_skip_331803
190569749190569950190569865190569865Frame_Shift_DelT-p.F609fs
LIHCTCGA-G3-A3CJ-01exon_skip_331814
190592993190593146190593036190593036Frame_Shift_DelG-p.W974fs
LIHCTCGA-DD-A1EG-01exon_skip_331814
190592993190593146190593066190593066Frame_Shift_DelA-p.Q984fs
LIHCTCGA-DD-A39Y-01exon_skip_331814
190592993190593146190593066190593066Frame_Shift_DelA-p.Q984fs
LIHCTCGA-G3-A3CJ-01exon_skip_331816
190593386190593547190593509190593509Frame_Shift_DelT-p.L1053fs
LIHCTCGA-DD-A39Y-01exon_skip_331835
exon_skip_331832
exon_skip_331822
190602409190602567190602413190602413Frame_Shift_DelT-p.I1143fs
LIHCTCGA-G3-A3CJ-01exon_skip_331838
190603291190603408190603323190603323Frame_Shift_DelG-p.M1205fs
COADTCGA-G4-6588-01exon_skip_331839
190608001190608200190608108190608108Frame_Shift_DelA-p.I1306fs
LIHCTCGA-DD-A1EG-01exon_skip_331839
190608001190608200190608148190608148Frame_Shift_DelT-p.F1320fs
LIHCTCGA-G3-A3CJ-01exon_skip_331839
190608001190608200190608160190608160Frame_Shift_DelT-p.F1324fs
BRCATCGA-BH-A0AW-01exon_skip_331803
190569749190569950190569785190569785Nonsense_MutationCGp.S511*
STADTCGA-BR-4184-01exon_skip_331814
190592993190593146190593148190593148Splice_SiteTAp.G1011_splice
COADTCGA-AD-6964-01exon_skip_331816
190593386190593547190593549190593549Splice_SiteTC.
ACCTCGA-OR-A5JE-01exon_skip_331826
190595221190595327190595328190595328Splice_SiteGT.
COADTCGA-F4-6461-01exon_skip_331838
190603291190603408190603410190603410Splice_SiteTC.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
JHH7_LIVER190569749190569950190569854190569866Frame_Shift_DelTGCCGATTCACTT-p.MPIHF605fs
FTC238_THYROID190593386190593547190593466190593488Frame_Shift_DelTTGGTTCGCTTACTAAGAATTAG-p.LVRLLRIS1038fs
SKES1_BONE190602409190602567190602442190602449Frame_Shift_DelCTTTTTGC-p.LFA1153fs
EN_ENDOMETRIUM190608001190608200190608107190608108Frame_Shift_Ins-Ap.IK1306fs
HS852T_SKIN190569749190569950190569845190569845Missense_MutationGTp.R602I
KATOIII_STOMACH190569749190569950190569845190569845Missense_MutationGTp.R602I
OVCA420_OVARY190569749190569950190569886190569886Missense_MutationGCp.V616L
SIMA_AUTONOMIC_GANGLIA190575775190575879190575856190575856Missense_MutationACp.Y734S
HCT15_LARGE_INTESTINE190575775190575879190575877190575877Missense_MutationCTp.A741V
KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE190585345190585513190585408190585408Missense_MutationAGp.M844V
HEC108_ENDOMETRIUM190585345190585513190585475190585475Missense_MutationGAp.G866D
KNS81FD_CENTRAL_NERVOUS_SYSTEM190585345190585513190585493190585493Missense_MutationGTp.R872I
NB17_AUTONOMIC_GANGLIA190585345190585513190585493190585493Missense_MutationGTp.R872I
MM426_SKIN190592993190593146190593021190593021Missense_MutationGAp.G969E
HCT15_LARGE_INTESTINE190593386190593547190593419190593419Missense_MutationGAp.S1022N
CW2_LARGE_INTESTINE190602409190602567190602461190602461Missense_MutationGAp.R1159H
DU145_PROSTATE190602409190602567190602517190602517Missense_MutationCTp.R1178C
CHLA99_BONE190602409190602567190602555190602555Missense_MutationGTp.M1190I
SNU175_LARGE_INTESTINE190603291190603408190603298190603298Missense_MutationTCp.V1197A
EFE184_ENDOMETRIUM190603291190603408190603386190603386Missense_MutationGCp.Q1226H
NTERA2CLD1_TESTIS190608001190608200190608059190608059Missense_MutationGAp.R1290H
DSH1_URINARY_TRACT190608001190608200190608073190608073Missense_MutationGCp.E1295Q
DU145_PROSTATE190608001190608200190608122190608122Missense_MutationGCp.S1311T
NCIH1155_LUNG190608001190608200190608122190608122Missense_MutationGAp.S1311N
HEPG2_LIVER190575775190575879190575801190575801Nonsense_MutationCTp.R716*
C3A_LIVER190575775190575879190575801190575801Nonsense_MutationCTp.R716*
OVK18_OVARY190575775190575879190575859190575859Nonsense_MutationGAp.W735*
SNU1040_LARGE_INTESTINE190592993190593146190592994190592994Splice_SiteCTp.A960V

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

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 ANKAR


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


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RelatedDrugs for ANKAR

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 ANKAR

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