ExonSkipDB Logo

Home

Download

Statistics

Landscape

Help

Contact
Center for Computational Systems Medicine
leaf

Gene summary

leaf

Gene structures and expression levels

leaf

Exon skipping events with PSIs in TCGA

leaf

Exon skipping events with PSIs in GTEx

leaf

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

leaf

Exon skipping events in the canonical protein sequence

leaf

SNVs in the skipped exons with depth of coverage

leaf

Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

leaf

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

leaf

Related drugs with this gene

leaf

Related diseases with this gene

Gene summary for KANK1

check button Gene summary
Gene informationGene symbol

KANK1

Gene ID

23189

Gene nameKN motif and ankyrin repeat domains 1
SynonymsANKRD15|CPSQ2|KANK
Cytomap

9p24.3

Type of geneprotein-coding
DescriptionKN motif and ankyrin repeat domain-containing protein 1ankyrin repeat domain-containing protein 15kidney ankyrin repeat-containing protein
Modification date20180523
UniProtAcc

Q14678

ContextPubMed: KANK1 [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
KANK1

GO:0010977

negative regulation of neuron projection development

19171758

KANK1

GO:0030177

positive regulation of Wnt signaling pathway

16968744

KANK1

GO:0030837

negative regulation of actin filament polymerization

17996375|18458160

KANK1

GO:1900025

negative regulation of substrate adhesion-dependent cell spreading

19171758

KANK1

GO:1900028

negative regulation of ruffle assembly

19171758

KANK1

GO:2000393

negative regulation of lamellipodium morphogenesis

19171758


Top

Exon skipping events across known transcript of Ensembl for KANK1 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

Top

Gene isoform structures and expression levels for KANK1

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

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


Top

Exon skipping events with PSIs in TCGA for KANK1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4946669470591:470677:471448:471586:473193:473273471448:471586ENSG00000107104.14ENST00000467541.1
exon_skip_4947089504715:504754:676889:677009:710803:713464676889:677009ENSG00000107104.14ENST00000354485.5,ENST00000382297.2,ENST00000489369.1
exon_skip_4947299676889:677009:710803:713464:730050:730194710803:713464ENSG00000107104.14ENST00000382303.1,ENST00000354485.5,ENST00000382297.2,ENST00000489369.1
exon_skip_4947379711172:713464:730050:730248:731157:731266730050:730248ENSG00000107104.14ENST00000382303.1,ENST00000382293.3,ENST00000382297.2,ENST00000489369.1
exon_skip_4947459731157:731266:732377:732617:734747:734835732377:732617ENSG00000107104.14ENST00000382303.1,ENST00000382293.3,ENST00000382297.2
exon_skip_4947469734747:734835:735711:735780:738284:738504735711:735780ENSG00000107104.14ENST00000382289.2
exon_skip_4947499734747:734835:738284:738504:740791:740934738284:738504ENSG00000107104.14ENST00000382303.1,ENST00000382286.1,ENST00000382293.3,ENST00000382297.2,ENST00000489369.1
exon_skip_4947529740791:740934:742204:742405:744490:744589742204:742405ENSG00000107104.14ENST00000382289.2,ENST00000382303.1,ENST00000382286.1,ENST00000382293.3,ENST00000382297.2,ENST00000489369.1

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

Top

Exon skipping events with PSIs in GTEx for KANK1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4946669470591:470677:471448:471586:473193:473273471448:471586ENSG00000107104.14ENST00000467541.1
exon_skip_4946829473193:473273:539515:539633:540507:540667539515:539633ENSG00000107104.14ENST00000382303.1
exon_skip_4947089504715:504754:676889:677009:710803:713464676889:677009ENSG00000107104.14ENST00000489369.1,ENST00000354485.5,ENST00000382297.2
exon_skip_4947299676889:677009:710803:713464:730050:730194710803:713464ENSG00000107104.14ENST00000382303.1,ENST00000489369.1,ENST00000354485.5,ENST00000382297.2
exon_skip_4947379711172:713464:730050:730248:731157:731266730050:730248ENSG00000107104.14ENST00000382303.1,ENST00000489369.1,ENST00000382297.2,ENST00000382293.3
exon_skip_4947459731157:731266:732377:732617:734747:734835732377:732617ENSG00000107104.14ENST00000382303.1,ENST00000382297.2,ENST00000382293.3
exon_skip_4947469734747:734835:735711:735780:738284:738504735711:735780ENSG00000107104.14ENST00000382289.2
exon_skip_4947499734747:734835:738284:738504:740791:740934738284:738504ENSG00000107104.14ENST00000382303.1,ENST00000489369.1,ENST00000382297.2,ENST00000382293.3,ENST00000382286.1
exon_skip_4947529740791:740934:742204:742405:744490:744589742204:742405ENSG00000107104.14ENST00000382303.1,ENST00000489369.1,ENST00000382297.2,ENST00000382293.3,ENST00000382289.2,ENST00000382286.1

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

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for KANK1

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
ENST000003822976768896770095CDS-5UTR
ENST00000382297738284738504Frame-shift
ENST00000382303738284738504Frame-shift
ENST00000382297710803713464In-frame
ENST00000382303710803713464In-frame
ENST00000382297730050730248In-frame
ENST00000382303730050730248In-frame
ENST00000382297732377732617In-frame
ENST00000382303732377732617In-frame
ENST00000382297742204742405In-frame
ENST00000382303742204742405In-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
ENST000003822976768896770095CDS-5UTR
ENST000003823035395155396335UTR-5UTR
ENST00000382297738284738504Frame-shift
ENST00000382303738284738504Frame-shift
ENST00000382297710803713464In-frame
ENST00000382303710803713464In-frame
ENST00000382297730050730248In-frame
ENST00000382303730050730248In-frame
ENST00000382297732377732617In-frame
ENST00000382303732377732617In-frame
ENST00000382297742204742405In-frame
ENST00000382303742204742405In-frame

Top

Infer the effects of exon skipping event on protein functional features for KANK1

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
ENST0000038229750681352710803713464160282012899
ENST0000038230355981352710803713464690335012899
ENST000003822975068135273005073024828213018899965
ENST000003823035598135273005073024833513548899965
ENST00000382297506813527323777326173128336710021081
ENST00000382303559813527323777326173658389710021081
ENST00000382297506813527422047424053819401912321299
ENST00000382303559813527422047424054349454912321299

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
ENST0000038229750681352710803713464160282012899
ENST0000038230355981352710803713464690335012899
ENST000003822975068135273005073024828213018899965
ENST000003823035598135273005073024833513548899965
ENST00000382297506813527323777326173128336710021081
ENST00000382303559813527323777326173658389710021081
ENST00000382297506813527422047424053819401912321299
ENST00000382303559813527422047424054349454912321299

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
Q14678128991158Alternative sequenceID=VSP_043958;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14678128991158Alternative sequenceID=VSP_043958;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q146781289911352ChainID=PRO_0000066911;Note=KN motif and ankyrin repeat domain-containing protein 1
Q146781289911352ChainID=PRO_0000066911;Note=KN motif and ankyrin repeat domain-containing protein 1
Q1467812899258316Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q1467812899258316Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q1467812899361395Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q1467812899361395Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q1467812899446500Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q1467812899446500Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q1467812899186186Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q1467812899186186Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q1467812899325325Modified residueNote=Phosphoserine%3B by PKB;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:18458160;Dbxref=PMID:19690332,PMID:21406692,PMID:231
Q1467812899325325Modified residueNote=Phosphoserine%3B by PKB;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:18458160;Dbxref=PMID:19690332,PMID:21406692,PMID:231
Q14678128994352MotifNote=Nuclear export signal 1 (NES 1)
Q14678128994352MotifNote=Nuclear export signal 1 (NES 1)
Q14678128996568MotifNote=Nuclear localization signal 1 (NLS 1)
Q14678128996568MotifNote=Nuclear localization signal 1 (NLS 1)
Q1467812899125134MotifNote=Nuclear export signal 2 (NES 2)
Q1467812899125134MotifNote=Nuclear export signal 2 (NES 2)
Q1467812899613622MotifNote=Nuclear export signal 3 (NES 3)
Q1467812899613622MotifNote=Nuclear export signal 3 (NES 3)
Q14678128994343MutagenesisNote=Nuclear localization%3B when associated A-52%3B A-125%3B A-129%3B A-134%3B A-613%3B A-616%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q14678128994343MutagenesisNote=Nuclear localization%3B when associated A-52%3B A-125%3B A-129%3B A-134%3B A-613%3B A-616%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q14678128995252MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-125%3B A-129%3B A-134%3B A-613%3B A-616%3B A-620 and A-622. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q14678128995252MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-125%3B A-129%3B A-134%3B A-613%3B A-616%3B A-620 and A-622. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q14678128996568MutagenesisNote=Enhanced cytoplasmic localization%3B when associated with 979-A--A-981 and 991-A-A-992. KRRK->AAAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q14678128996568MutagenesisNote=Enhanced cytoplasmic localization%3B when associated with 979-A--A-981 and 991-A-A-992. KRRK->AAAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899125125MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-129%3B A-134%3B A-613%3B A-616%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899125125MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-129%3B A-134%3B A-613%3B A-616%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899129129MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-134%3B A-613%3B A-616%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899129129MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-134%3B A-613%3B A-616%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899134134MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-613%3B A-616%3B A-620 and A-622. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899134134MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-613%3B A-616%3B A-620 and A-622. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899325325MutagenesisNote=Abolishes phosphorylation by PKB. Abolishes interaction with YWHAB%3B YWHAG%3B YWHAE%3B YWHAH%3B YWHAQ%3B YWHAZ and SFN. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18458160;Dbxref=PMID:18458160
Q1467812899325325MutagenesisNote=Abolishes phosphorylation by PKB. Abolishes interaction with YWHAB%3B YWHAG%3B YWHAE%3B YWHAH%3B YWHAQ%3B YWHAZ and SFN. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18458160;Dbxref=PMID:18458160
Q1467812899613613MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-134%3B A-616%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899613613MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-134%3B A-616%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899616616MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-134%3B A-613%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899616616MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-134%3B A-613%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899620620MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-134%3B A-613%3B A-616 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899620620MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-134%3B A-613%3B A-616 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899622622MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-134%3B A-613%3B A-616 and A-620. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899622622MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-134%3B A-613%3B A-616 and A-620. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899206206Natural variantID=VAR_026212;Note=N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17857145,PMID:15489334
Q1467812899206206Natural variantID=VAR_026212;Note=N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17857145,PMID:15489334
Q1467812899210210Natural variantID=VAR_048298;Note=H->Q;Dbxref=dbSNP:rs28374506
Q1467812899210210Natural variantID=VAR_048298;Note=H->Q;Dbxref=dbSNP:rs28374506
Q1467812899321321Natural variantID=VAR_048299;Note=K->R;Dbxref=dbSNP:rs17857159
Q1467812899321321Natural variantID=VAR_048299;Note=K->R;Dbxref=dbSNP:rs17857159
Q1467812899432432Natural variantID=VAR_026213;Note=E->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.3;Dbxref=dbSNP:rs4465020,PMID:15489334
Q1467812899432432Natural variantID=VAR_026213;Note=E->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.3;Dbxref=dbSNP:rs4465020,PMID:15489334
Q1467812899464464Natural variantID=VAR_016697;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8724849;Dbxref=dbSNP:rs912174,PMID:8724849
Q1467812899464464Natural variantID=VAR_016697;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8724849;Dbxref=dbSNP:rs912174,PMID:8724849
Q1467812899664664Natural variantID=VAR_048300;Note=A->V;Dbxref=dbSNP:rs3824421
Q1467812899664664Natural variantID=VAR_048300;Note=A->V;Dbxref=dbSNP:rs3824421
Q1467812899667667Natural variantID=VAR_048301;Note=R->H;Dbxref=dbSNP:rs3824420
Q1467812899667667Natural variantID=VAR_048301;Note=R->H;Dbxref=dbSNP:rs3824420
Q1467812899291467RegionNote=Interaction with KIF21A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19559006;Dbxref=PMID:19559006
Q1467812899291467RegionNote=Interaction with KIF21A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19559006;Dbxref=PMID:19559006
Q1467889996511352ChainID=PRO_0000066911;Note=KN motif and ankyrin repeat domain-containing protein 1
Q1467889996511352ChainID=PRO_0000066911;Note=KN motif and ankyrin repeat domain-containing protein 1
Q14678899965901901Natural variantID=VAR_048302;Note=N->S;Dbxref=dbSNP:rs12352313
Q14678899965901901Natural variantID=VAR_048302;Note=N->S;Dbxref=dbSNP:rs12352313
Q146781002108111352ChainID=PRO_0000066911;Note=KN motif and ankyrin repeat domain-containing protein 1
Q146781002108111352ChainID=PRO_0000066911;Note=KN motif and ankyrin repeat domain-containing protein 1
Q146781002108110551055Natural variantID=VAR_048303;Note=I->T;Dbxref=dbSNP:rs34832656
Q146781002108110551055Natural variantID=VAR_048303;Note=I->T;Dbxref=dbSNP:rs34832656
Q146781232129911352ChainID=PRO_0000066911;Note=KN motif and ankyrin repeat domain-containing protein 1
Q146781232129911352ChainID=PRO_0000066911;Note=KN motif and ankyrin repeat domain-containing protein 1
Q146781232129912371243HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129912371243HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129912471255HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129912471255HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129912701277HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129912701277HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129912801287HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129912801287HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129911561308RegionNote=Interaction with KIF21A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19559006;Dbxref=PMID:19559006
Q146781232129911561308RegionNote=Interaction with KIF21A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19559006;Dbxref=PMID:19559006
Q146781232129912331262RepeatNote=ANK 3
Q146781232129912331262RepeatNote=ANK 3
Q146781232129912661298RepeatNote=ANK 4
Q146781232129912661298RepeatNote=ANK 4
Q146781232129912311234TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129912311234TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU


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
Q14678128991158Alternative sequenceID=VSP_043958;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14678128991158Alternative sequenceID=VSP_043958;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q146781289911352ChainID=PRO_0000066911;Note=KN motif and ankyrin repeat domain-containing protein 1
Q146781289911352ChainID=PRO_0000066911;Note=KN motif and ankyrin repeat domain-containing protein 1
Q1467812899258316Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q1467812899258316Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q1467812899361395Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q1467812899361395Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q1467812899446500Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q1467812899446500Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q1467812899186186Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q1467812899186186Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q1467812899325325Modified residueNote=Phosphoserine%3B by PKB;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:18458160;Dbxref=PMID:19690332,PMID:21406692,PMID:231
Q1467812899325325Modified residueNote=Phosphoserine%3B by PKB;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:18458160;Dbxref=PMID:19690332,PMID:21406692,PMID:231
Q14678128994352MotifNote=Nuclear export signal 1 (NES 1)
Q14678128994352MotifNote=Nuclear export signal 1 (NES 1)
Q14678128996568MotifNote=Nuclear localization signal 1 (NLS 1)
Q14678128996568MotifNote=Nuclear localization signal 1 (NLS 1)
Q1467812899125134MotifNote=Nuclear export signal 2 (NES 2)
Q1467812899125134MotifNote=Nuclear export signal 2 (NES 2)
Q1467812899613622MotifNote=Nuclear export signal 3 (NES 3)
Q1467812899613622MotifNote=Nuclear export signal 3 (NES 3)
Q14678128994343MutagenesisNote=Nuclear localization%3B when associated A-52%3B A-125%3B A-129%3B A-134%3B A-613%3B A-616%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q14678128994343MutagenesisNote=Nuclear localization%3B when associated A-52%3B A-125%3B A-129%3B A-134%3B A-613%3B A-616%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q14678128995252MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-125%3B A-129%3B A-134%3B A-613%3B A-616%3B A-620 and A-622. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q14678128995252MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-125%3B A-129%3B A-134%3B A-613%3B A-616%3B A-620 and A-622. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q14678128996568MutagenesisNote=Enhanced cytoplasmic localization%3B when associated with 979-A--A-981 and 991-A-A-992. KRRK->AAAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q14678128996568MutagenesisNote=Enhanced cytoplasmic localization%3B when associated with 979-A--A-981 and 991-A-A-992. KRRK->AAAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899125125MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-129%3B A-134%3B A-613%3B A-616%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899125125MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-129%3B A-134%3B A-613%3B A-616%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899129129MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-134%3B A-613%3B A-616%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899129129MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-134%3B A-613%3B A-616%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899134134MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-613%3B A-616%3B A-620 and A-622. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899134134MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-613%3B A-616%3B A-620 and A-622. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899325325MutagenesisNote=Abolishes phosphorylation by PKB. Abolishes interaction with YWHAB%3B YWHAG%3B YWHAE%3B YWHAH%3B YWHAQ%3B YWHAZ and SFN. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18458160;Dbxref=PMID:18458160
Q1467812899325325MutagenesisNote=Abolishes phosphorylation by PKB. Abolishes interaction with YWHAB%3B YWHAG%3B YWHAE%3B YWHAH%3B YWHAQ%3B YWHAZ and SFN. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18458160;Dbxref=PMID:18458160
Q1467812899613613MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-134%3B A-616%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899613613MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-134%3B A-616%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899616616MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-134%3B A-613%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899616616MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-134%3B A-613%3B A-620 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899620620MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-134%3B A-613%3B A-616 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899620620MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-134%3B A-613%3B A-616 and A-622. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899622622MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-134%3B A-613%3B A-616 and A-620. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899622622MutagenesisNote=Nuclear localization%3B when associated A-43%3B A-52%3B A-125%3B A-129%3B A-134%3B A-613%3B A-616 and A-620. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968744;Dbxref=PMID:16968744
Q1467812899206206Natural variantID=VAR_026212;Note=N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17857145,PMID:15489334
Q1467812899206206Natural variantID=VAR_026212;Note=N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17857145,PMID:15489334
Q1467812899210210Natural variantID=VAR_048298;Note=H->Q;Dbxref=dbSNP:rs28374506
Q1467812899210210Natural variantID=VAR_048298;Note=H->Q;Dbxref=dbSNP:rs28374506
Q1467812899321321Natural variantID=VAR_048299;Note=K->R;Dbxref=dbSNP:rs17857159
Q1467812899321321Natural variantID=VAR_048299;Note=K->R;Dbxref=dbSNP:rs17857159
Q1467812899432432Natural variantID=VAR_026213;Note=E->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.3;Dbxref=dbSNP:rs4465020,PMID:15489334
Q1467812899432432Natural variantID=VAR_026213;Note=E->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.3;Dbxref=dbSNP:rs4465020,PMID:15489334
Q1467812899464464Natural variantID=VAR_016697;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8724849;Dbxref=dbSNP:rs912174,PMID:8724849
Q1467812899464464Natural variantID=VAR_016697;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8724849;Dbxref=dbSNP:rs912174,PMID:8724849
Q1467812899664664Natural variantID=VAR_048300;Note=A->V;Dbxref=dbSNP:rs3824421
Q1467812899664664Natural variantID=VAR_048300;Note=A->V;Dbxref=dbSNP:rs3824421
Q1467812899667667Natural variantID=VAR_048301;Note=R->H;Dbxref=dbSNP:rs3824420
Q1467812899667667Natural variantID=VAR_048301;Note=R->H;Dbxref=dbSNP:rs3824420
Q1467812899291467RegionNote=Interaction with KIF21A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19559006;Dbxref=PMID:19559006
Q1467812899291467RegionNote=Interaction with KIF21A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19559006;Dbxref=PMID:19559006
Q1467889996511352ChainID=PRO_0000066911;Note=KN motif and ankyrin repeat domain-containing protein 1
Q1467889996511352ChainID=PRO_0000066911;Note=KN motif and ankyrin repeat domain-containing protein 1
Q14678899965901901Natural variantID=VAR_048302;Note=N->S;Dbxref=dbSNP:rs12352313
Q14678899965901901Natural variantID=VAR_048302;Note=N->S;Dbxref=dbSNP:rs12352313
Q146781002108111352ChainID=PRO_0000066911;Note=KN motif and ankyrin repeat domain-containing protein 1
Q146781002108111352ChainID=PRO_0000066911;Note=KN motif and ankyrin repeat domain-containing protein 1
Q146781002108110551055Natural variantID=VAR_048303;Note=I->T;Dbxref=dbSNP:rs34832656
Q146781002108110551055Natural variantID=VAR_048303;Note=I->T;Dbxref=dbSNP:rs34832656
Q146781232129911352ChainID=PRO_0000066911;Note=KN motif and ankyrin repeat domain-containing protein 1
Q146781232129911352ChainID=PRO_0000066911;Note=KN motif and ankyrin repeat domain-containing protein 1
Q146781232129912371243HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129912371243HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129912471255HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129912471255HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129912701277HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129912701277HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129912801287HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129912801287HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129911561308RegionNote=Interaction with KIF21A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19559006;Dbxref=PMID:19559006
Q146781232129911561308RegionNote=Interaction with KIF21A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19559006;Dbxref=PMID:19559006
Q146781232129912331262RepeatNote=ANK 3
Q146781232129912331262RepeatNote=ANK 3
Q146781232129912661298RepeatNote=ANK 4
Q146781232129912661298RepeatNote=ANK 4
Q146781232129912311234TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU
Q146781232129912311234TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5YBU


Top

SNVs in the skipped exons for KANK1

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.
KANK1_COAD_exon_skip_494729_psi_boxplot.png
boxplot
KANK1_STAD_exon_skip_494729_psi_boxplot.png
boxplot
KANK1_STAD_exon_skip_494752_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
LIHCTCGA-DD-A3A0-01exon_skip_494729
710804713464710860710860Frame_Shift_DelT-p.F32fs
LIHCTCGA-G3-A3CJ-01exon_skip_494729
710804713464710860710860Frame_Shift_DelT-p.F32fs
LIHCTCGA-G3-A3CJ-01exon_skip_494729
710804713464711471711471Frame_Shift_DelG-p.M235fs
LGGTCGA-P5-A77W-01exon_skip_494729
710804713464712394712397Frame_Shift_DelAAAC-p.ET543fs
UCECTCGA-BS-A0UM-01exon_skip_494729
710804713464712394712397Frame_Shift_DelAAAC-p.E543fs
UCECTCGA-BS-A0UM-01exon_skip_494729
710804713464712394712397Frame_Shift_DelAAAC-p.N545fs
BLCATCGA-G2-A3IE-01exon_skip_494729
710804713464713382713383Frame_Shift_DelTA-p.I873fs
BLCATCGA-G2-A3IE-01exon_skip_494729
710804713464713382713383Frame_Shift_DelTA-p.S872fs
UCECTCGA-A5-A0R7-01exon_skip_494752
742205742405742271742274Frame_Shift_DelGCCT-p.A1255fs
STADTCGA-BR-4201-01exon_skip_494729
710804713464711074711075Frame_Shift_Ins-Cp.C103fs
STADTCGA-BR-4201-01exon_skip_494729
710804713464711075711076Frame_Shift_Ins-Cp.C103fs
COADTCGA-F4-6856-01exon_skip_494729
710804713464711132711133Frame_Shift_Ins-Cp.P122fs
BLCATCGA-XF-AAMH-01exon_skip_494749
738285738504738496738497Frame_Shift_Ins-AGATGp.-1183fs
ESCATCGA-IG-A6QS-01exon_skip_494729
710804713464711982711982Nonsense_MutationGTp.E406*
ESCATCGA-IG-A6QS-01exon_skip_494729
710804713464711982711982Nonsense_MutationGTp.E406X
LUADTCGA-55-A490-01exon_skip_494729
710804713464713021713021Nonsense_MutationCGp.S752*
BLCATCGA-FD-A43P-01exon_skip_494729
710804713464713359713359Nonsense_MutationCTp.Q865*
ESCATCGA-L5-A893-01exon_skip_494737
730051730248730134730134Nonsense_MutationGTp.E928*
ESCATCGA-L5-A893-01exon_skip_494737
730051730248730134730134Nonsense_MutationGTp.E928X
HNSCTCGA-CR-7364-01exon_skip_494749
738285738504738306738306Nonsense_MutationCTp.Q1119*
STADTCGA-HU-A4GF-01exon_skip_494752
742205742405742406742406Splice_SiteGA.
STADTCGA-HU-A4GF-01exon_skip_494752
742205742405742406742406Splice_SiteGAp.N1299_splice
UCECTCGA-AP-A0LM-01exon_skip_494752
742205742405742407742407Splice_SiteTCe9+2

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
KANK1_740791_740934_742204_742405_744490_744589_TCGA-HU-A4GF-01Sample: TCGA-HU-A4GF-01
Cancer type: STAD
ESID: exon_skip_494752
Skipped exon start: 742205
Skipped exon end: 742405
Mutation start: 742406
Mutation end: 742406
Mutation type: Splice_Site
Reference seq: G
Mutation seq: A
AAchange: .
KANK1_740791_740934_742204_742405_744490_744589_TCGA-HU-A4GF-01Sample: TCGA-HU-A4GF-01
Cancer type: STAD
ESID: exon_skip_494752
Skipped exon start: 742205
Skipped exon end: 742405
Mutation start: 742406
Mutation end: 742406
Mutation type: Splice_Site
Reference seq: G
Mutation seq: A
AAchange: p.N1299_splice
exon_skip_122794_STAD_TCGA-HU-A4GF-01.png
boxplot
exon_skip_350768_STAD_TCGA-HU-A4GF-01.png
boxplot
exon_skip_494752_STAD_TCGA-HU-A4GF-01.png
boxplot
KANK1_676889_677009_710803_713464_730050_730194_TCGA-BR-4201-01Sample: TCGA-BR-4201-01
Cancer type: STAD
ESID: exon_skip_494729
Skipped exon start: 710804
Skipped exon end: 713464
Mutation start: 711074
Mutation end: 711075
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: C
AAchange: p.C103fs
KANK1_676889_677009_710803_713464_730050_730194_TCGA-BR-4201-01Sample: TCGA-BR-4201-01
Cancer type: STAD
ESID: exon_skip_494729
Skipped exon start: 710804
Skipped exon end: 713464
Mutation start: 711075
Mutation end: 711076
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: C
AAchange: p.C103fs
exon_skip_141192_STAD_TCGA-BR-4201-01.png
boxplot
exon_skip_16960_STAD_TCGA-BR-4201-01.png
boxplot
exon_skip_326432_STAD_TCGA-BR-4201-01.png
boxplot
exon_skip_337819_STAD_TCGA-BR-4201-01.png
boxplot
exon_skip_345944_STAD_TCGA-BR-4201-01.png
boxplot
exon_skip_345950_STAD_TCGA-BR-4201-01.png
boxplot
exon_skip_351676_STAD_TCGA-BR-4201-01.png
boxplot
exon_skip_454428_STAD_TCGA-BR-4201-01.png
boxplot
exon_skip_454431_STAD_TCGA-BR-4201-01.png
boxplot
exon_skip_454433_STAD_TCGA-BR-4201-01.png
boxplot
exon_skip_45525_STAD_TCGA-BR-4201-01.png
boxplot
exon_skip_456626_STAD_TCGA-BR-4201-01.png
boxplot
exon_skip_494729_STAD_TCGA-BR-4201-01.png
boxplot
exon_skip_60290_STAD_TCGA-BR-4201-01.png
boxplot
exon_skip_60294_STAD_TCGA-BR-4201-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
NTERA2CLD1_TESTIS710804713464712123712126Frame_Shift_DelAAAG-p.KE453fs
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE710804713464712261712261Frame_Shift_DelA-p.K500fs
ES8_BONE710804713464712407712410Frame_Shift_DelAGGC-p.VG547fs
NCIH2066_LUNG710804713464712910712910Frame_Shift_DelG-p.R715fs
SNU423_LIVER732378732617732486732487Frame_Shift_Ins-GAp.E1039fs
2313287_STOMACH710804713464711929711931In_Frame_DelCCT-p.S390del
CHL1_SKIN742205742405742346742348In_Frame_DelGTG-p.V1280del
HMCB_SKIN742205742405742346742348In_Frame_DelGTG-p.V1280del
HEC108_ENDOMETRIUM710804713464710933710933Missense_MutationAGp.N56S
MDAMB415_BREAST710804713464710940710940Missense_MutationCGp.I58M
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE710804713464710954710954Missense_MutationTAp.I63N
LOVO_LARGE_INTESTINE710804713464710977710977Missense_MutationGAp.V71M
SW684_SOFT_TISSUE710804713464711005711005Missense_MutationCTp.S80F
HT115_LARGE_INTESTINE710804713464711083711083Missense_MutationTCp.F106S
639V_URINARY_TRACT710804713464711148711148Missense_MutationTCp.S128P
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE710804713464711262711262Missense_MutationGAp.E166K
TCCSUP_URINARY_TRACT710804713464711282711282Missense_MutationGTp.M172I
MCC26_SKIN710804713464711311711311Missense_MutationCTp.P182L
MCC13_SKIN710804713464711397711397Missense_MutationCGp.Q211E
GA10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE710804713464711577711577Missense_MutationCGp.L271V
OMC1_CERVIX710804713464711641711641Missense_MutationCAp.S292Y
MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE710804713464711679711679Missense_MutationCGp.L305V
NCIBL2126_MATCHED_NORMAL_TISSUE710804713464711739711739Missense_MutationAGp.S325G
NCIH2126_LUNG710804713464711739711739Missense_MutationAGp.S325G
MDAMB415_BREAST710804713464711763711763Missense_MutationGAp.E333K
HEC251_ENDOMETRIUM710804713464711785711785Missense_MutationGTp.R340I
G402_SOFT_TISSUE710804713464711820711820Missense_MutationGAp.E352K
NCC010_KIDNEY710804713464711956711956Missense_MutationAGp.E397G
KURAMOCHI_OVARY710804713464711959711959Missense_MutationGTp.C398F
CCK81_LARGE_INTESTINE710804713464711971711971Missense_MutationCTp.A402V
HEC6_ENDOMETRIUM710804713464712025712025Missense_MutationGTp.R420M
SNU1040_LARGE_INTESTINE710804713464712094712094Missense_MutationCTp.A443V
HEC1B_ENDOMETRIUM710804713464712094712094Missense_MutationCTp.A443V
NCIH322_LUNG710804713464712170712170Missense_MutationGTp.K468N
HEC1_ENDOMETRIUM710804713464712245712245Missense_MutationGTp.Q493H
KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE710804713464712253712253Missense_MutationGTp.G496V
SCABER_URINARY_TRACT710804713464712274712274Missense_MutationAGp.K503R
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE710804713464712319712319Missense_MutationCTp.A518V
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE710804713464712505712505Missense_MutationGAp.R580Q
SHP77_LUNG710804713464712523712523Missense_MutationTCp.V586A
ISTSL1_LUNG710804713464712554712554Missense_MutationATp.E596D
HS746T_STOMACH710804713464712559712559Missense_MutationGTp.S598I
SIMA_AUTONOMIC_GANGLIA710804713464712561712561Missense_MutationGAp.V599I
ML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE710804713464712621712621Missense_MutationATp.N619Y
MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE710804713464712634712634Missense_MutationAGp.K623R
JHH4_LIVER710804713464712634712634Missense_MutationAGp.K623R
SNU899_UPPER_AERODIGESTIVE_TRACT710804713464712687712687Missense_MutationTGp.S641A
IM95_STOMACH710804713464712702712702Missense_MutationGAp.A646T
SNU1040_LARGE_INTESTINE710804713464712796712796Missense_MutationTCp.L677S
SLR26_KIDNEY710804713464712840712840Missense_MutationAGp.I692V
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE710804713464712842712842Missense_MutationAGp.I692M
HEPG2_LIVER710804713464712843712843Missense_MutationGAp.E693K
C3A_LIVER710804713464712843712843Missense_MutationGAp.E693K
SW684_SOFT_TISSUE710804713464712847712847Missense_MutationCTp.S694F
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE710804713464712862712862Missense_MutationGAp.C699Y
SNU283_LARGE_INTESTINE710804713464712876712876Missense_MutationGAp.D704N
RERFLCKJ_LUNG710804713464713021713021Missense_MutationCTp.S752L
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM710804713464713026713026Missense_MutationGAp.V754M
NCIH596_LUNG710804713464713055713055Missense_MutationGCp.Q763H
KNS60_CENTRAL_NERVOUS_SYSTEM710804713464713161713161Missense_MutationGAp.V799I
KYM1_SOFT_TISSUE710804713464713161713161Missense_MutationGAp.V799I
MERO95_LUNG710804713464713188713188Missense_MutationCGp.L808V
HEC265_ENDOMETRIUM710804713464713206713206Missense_MutationCGp.Q814E
CCK81_LARGE_INTESTINE730051730248730174730174Missense_MutationAGp.D941G
DAOY_CENTRAL_NERVOUS_SYSTEM730051730248730197730197Missense_MutationAGp.T949A
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE730051730248730236730236Missense_MutationGAp.A962T
KP2_PANCREAS730051730248730246730246Missense_MutationAGp.Y965C
A2780_OVARY732378732617732425732425Missense_MutationCAp.S1018Y
A549_LUNG732378732617732469732469Missense_MutationGAp.E1033K
H290_PLEURA732378732617732506732506Missense_MutationGTp.G1045V
BT483_BREAST732378732617732595732595Missense_MutationGCp.E1075Q
SNU1_STOMACH738285738504738418738418Missense_MutationACp.N1156T
SNU1040_LARGE_INTESTINE738285738504738429738429Missense_MutationGAp.G1160S
HNT34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE738285738504738429738429Missense_MutationGAp.G1160S
MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE738285738504738488738488Missense_MutationGTp.K1179N
MONOMAC6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE738285738504738488738488Missense_MutationGTp.K1179N
JHH7_LIVER738285738504738495738495Missense_MutationTGp.L1182V
HEC265_ENDOMETRIUM738285738504738499738499Missense_MutationAGp.D1183G
2313287_STOMACH742205742405742218742218Missense_MutationCTp.A1237V
NCIH510_LUNG742205742405742316742316Missense_MutationGTp.A1270S
IALM_LUNG742205742405742332742332Missense_MutationGAp.S1275N
SNUC2A_LARGE_INTESTINE742205742405742394742394Missense_MutationCGp.L1296V
SNUC2B_LARGE_INTESTINE742205742405742394742394Missense_MutationCGp.L1296V
HCT116_LARGE_INTESTINE710804713464711024711024Nonsense_MutationGAp.W86*
SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE710804713464711781711781Nonsense_MutationCTp.R339*
CW2_LARGE_INTESTINE710804713464711898711898Nonsense_MutationGTp.E378*
LNCAPCLONEFGC_PROSTATE730051730248730248730248Splice_SiteGAp.A966T
MKN1_STOMACH732378732617732617732617Splice_SiteGTp.R1082M
NCIH2810_PLEURA732378732617732617732617Splice_SiteGAp.R1082K
HEC59_ENDOMETRIUM742205742405742404742404Splice_SiteATp.N1299I

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KANK1

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

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KANK1


Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KANK1


Top

RelatedDrugs for KANK1

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

Top

RelatedDiseases for KANK1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
KANK1C0001973Alcoholic Intoxication, Chronic1PSYGENET
KANK1C0023893Liver Cirrhosis, Experimental1CTD_human