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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 KANK3

check button Gene summary
Gene informationGene symbol

KANK3

Gene ID

256949

Gene nameKN motif and ankyrin repeat domains 3
SynonymsANKRD47
Cytomap

19p13.2

Type of geneprotein-coding
DescriptionKN motif and ankyrin repeat domain-containing protein 3ankyrin repeat domain 47ankyrin repeat domain-containing protein 47kidney ankyrin repeat-containing protein 3
Modification date20180523
UniProtAcc

Q6NY19

ContextPubMed: KANK3 [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 KANK3 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 KANK3

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 KANK3

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENSG00000186994.7ENST00000330915.3,ENST00000593649.1
exon_skip_314150198399383:8400676:8402678:8402740:8408108:84081468402678:8402740ENSG00000186994.7ENST00000593649.1

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

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Exon skipping events with PSIs in GTEx for KANK3

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENSG00000186994.7ENST00000330915.3,ENST00000593649.1
exon_skip_314149198399203:8399303:8402678:8402740:8408108:84081468402678:8402740ENSG00000186994.7ENST00000595639.1
exon_skip_314150198399383:8400676:8402678:8402740:8408108:84081468402678:8402740ENSG00000186994.7ENST00000593649.1

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 KANK3

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
ENST00000593649840267884027403UTR-3CDS
ENST0000059364983993838400676In-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
ENST00000593649840267884027403UTR-3CDS
ENST0000059364983993838400676In-frame

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Infer the effects of exon skipping event on protein functional features for KANK3

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
ENST00000593649268984083993838400676101139311442

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
ENST00000593649268984083993838400676101139311442

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
Q6NY19114421840ChainID=PRO_0000244582;Note=KN motif and ankyrin repeat domain-containing protein 3
Q6NY1911442181230Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q6NY1911442367404Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q6NY1911442152152Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q6NY1911442160160Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Z1P7
Q6NY1911442164164Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Z1P7
Q6NY1911442167167Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q6NY1911442168168Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q6NY1911442177177Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q6NY1911442271271Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q6NY1911442280280Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Z1P7
Q6NY1911442293293Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q6NY1911442288288Natural variantID=VAR_026909;Note=D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs890850,PMID:14702039
Q6NY1911442359359Natural variantID=VAR_026910;Note=R->H;Dbxref=dbSNP:rs890853


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
Q6NY19114421840ChainID=PRO_0000244582;Note=KN motif and ankyrin repeat domain-containing protein 3
Q6NY1911442181230Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q6NY1911442367404Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q6NY1911442152152Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q6NY1911442160160Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Z1P7
Q6NY1911442164164Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Z1P7
Q6NY1911442167167Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q6NY1911442168168Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q6NY1911442177177Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q6NY1911442271271Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q6NY1911442280280Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Z1P7
Q6NY1911442293293Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q6NY1911442288288Natural variantID=VAR_026909;Note=D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs890850,PMID:14702039
Q6NY1911442359359Natural variantID=VAR_026910;Note=R->H;Dbxref=dbSNP:rs890853


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SNVs in the skipped exons for KANK3

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
BLCATCGA-GU-A763-01exon_skip_314147
8399384840067683995338399534Frame_Shift_Ins-Cp.A393fs
SKCMTCGA-D3-A8GB-06exon_skip_314150
8402679840274084026918402691Nonsense_MutationGAp.Q8*

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
CL34_LARGE_INTESTINE8399384840067683994238399423Missense_MutationGAp.P430S
HEC251_ENDOMETRIUM8399384840067683994308399430Missense_MutationCAp.E427D
RVH421_SKIN8399384840067683995128399512Missense_MutationGTp.A400D
SYO1_SOFT_TISSUE8399384840067683995408399540Missense_MutationCAp.A391S
DV90_LUNG8399384840067683997348399734Missense_MutationCTp.G326D
NCIH1963_LUNG8399384840067684000088400008Missense_MutationCAp.G235W
CAMA1_BREAST8399384840067684000088400008Missense_MutationCAp.G235W
BT16_SOFT_TISSUE8399384840067684001768400176Missense_MutationCTp.G179S
GP2D_LARGE_INTESTINE8399384840067684005528400552Missense_MutationCAp.E53D

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KANK3

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1BRCArs890852chr19:8399709C/A2.84e-05
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1BRCArs890851chr19:8399799G/A2.84e-05
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1BRCArs890850chr19:8399849C/A2.84e-05
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1LGGrs890852chr19:8399709C/A4.20e-05
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1LGGrs890851chr19:8399799G/A4.20e-05
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1LGGrs890850chr19:8399849C/A4.20e-05
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1LGGrs890852chr19:8399709C/A4.20e-05
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1LGGrs890851chr19:8399799G/A4.20e-05
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1LGGrs890850chr19:8399849C/A4.20e-05
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1KIRCrs890852chr19:8399709C/A6.32e-06
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1KIRCrs890851chr19:8399799G/A6.32e-06
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1KIRCrs890850chr19:8399849C/A6.32e-06
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1KIRCrs890852chr19:8399709C/A1.19e-04
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1KIRCrs890851chr19:8399799G/A1.19e-04
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1KIRCrs890850chr19:8399849C/A1.19e-04
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1LUSCrs890852chr19:8399709C/A2.18e-03
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1LUSCrs890851chr19:8399799G/A2.18e-03
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1LUSCrs890850chr19:8399849C/A2.18e-03
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1PRADrs890852chr19:8399709C/A1.41e-03
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1PRADrs890851chr19:8399799G/A1.41e-03
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1PRADrs890850chr19:8399849C/A1.41e-03
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1THCArs890852chr19:8399709C/A3.35e-05
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1THCArs890851chr19:8399799G/A3.35e-05
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1THCArs890850chr19:8399849C/A3.35e-05
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1THCArs890852chr19:8399709C/A3.35e-05
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1THCArs890851chr19:8399799G/A3.35e-05
exon_skip_314147198399203:8399303:8399383:8400676:8402678:84027408399383:8400676ENST00000330915.3,ENST00000593649.1THCArs890850chr19:8399849C/A3.35e-05

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KANK3


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KANK3


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RelatedDrugs for KANK3

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 KANK3

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