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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 CDKL1

check button Gene summary
Gene informationGene symbol

CDKL1

Gene ID

8814

Gene namecyclin dependent kinase like 1
SynonymsKKIALRE|P42
Cytomap

14q21.3

Type of geneprotein-coding
Descriptioncyclin-dependent kinase-like 1CDC2-related kinase 1cyclin-dependent kinase-like 1 (CDC2-related kinase)protein kinase p42 KKIALREserine/threonine protein kinase KKIALRE
Modification date20180523
UniProtAcc

Q00532

ContextPubMed: CDKL1 [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 CDKL1 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 CDKL1

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 CDKL1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENSG00000100490.5ENST00000395834.1
exon_skip_1131761450796829:50796899:50801282:50801339:50805664:5080574750801282:50801339ENSG00000100490.5ENST00000525911.1
exon_skip_1131771450798979:50799150:50801282:50801339:50805664:5080574750801282:50801339ENSG00000100490.5ENST00000534267.1,ENST00000395834.1
exon_skip_1131781450808849:50808940:50811703:50811776:50825745:5082586750811703:50811776ENSG00000100490.5ENST00000216378.2,ENST00000395834.1,ENST00000528197.1
exon_skip_1131791450811703:50811776:50825745:50825867:50862418:5086261750825745:50825867ENSG00000100490.5ENST00000216378.2
exon_skip_1131801450825745:50825867:50829938:50830032:50830562:5083069450829938:50830032ENSG00000100490.5ENST00000528197.1

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

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Exon skipping events with PSIs in GTEx for CDKL1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENSG00000100490.5ENST00000395834.1
exon_skip_1131761450796829:50796899:50801282:50801339:50805664:5080574750801282:50801339ENSG00000100490.5ENST00000525911.1
exon_skip_1131771450798979:50799150:50801282:50801339:50805664:5080574750801282:50801339ENSG00000100490.5ENST00000395834.1,ENST00000534267.1
exon_skip_1131781450808849:50808940:50811703:50811776:50825745:5082586750811703:50811776ENSG00000100490.5ENST00000395834.1,ENST00000216378.2,ENST00000528197.1
exon_skip_1131791450811703:50811776:50825745:50825867:50862418:5086261750825745:50825867ENSG00000100490.5ENST00000216378.2
exon_skip_1131801450825745:50825867:50829938:50830032:50830562:5083069450829938:50830032ENSG00000100490.5ENST00000528197.1

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 CDKL1

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
ENST000003958345081170350811776Frame-shift
ENST000003958345079897950799150In-frame
ENST000003958345080128250801339In-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
ENST000003958345081170350811776Frame-shift
ENST000003958345079897950799150In-frame
ENST000003958345080128250801339In-frame

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Infer the effects of exon skipping event on protein functional features for CDKL1

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
ENST0000039583416043585080128250801339770826247266
ENST0000039583416043585079897950799150827997266323

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
ENST0000039583416043585080128250801339770826247266
ENST0000039583416043585079897950799150827997266323

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
Q00532247266248358Alternative sequenceID=VSP_041242;Note=In isoform 2. EPLELKFPNISYPALGLLKGCLHMDPTQRLTCEQLLHHPYFENIREIEDLAKEHNKPTRKTLRKSRKHHCFTETSKLQYLPQLTGSSILPALDNKKYYCDTKKLNYRFPNI->SLCLSVTLTEGGLLASGAVKRSQMGSSVSQATSWPHPDIVAETAELDDIAMARQTPVMLRFNRQKEQEKYLSYGA;Ontology_term=ECO:0000303;evidenc
Q005322472661358ChainID=PRO_0000085810;Note=Cyclin-dependent kinase-like 1
Q005322472665288DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q00532247266250253HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AGU
Q00532247266259268HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AGU
Q00532266323248358Alternative sequenceID=VSP_041242;Note=In isoform 2. EPLELKFPNISYPALGLLKGCLHMDPTQRLTCEQLLHHPYFENIREIEDLAKEHNKPTRKTLRKSRKHHCFTETSKLQYLPQLTGSSILPALDNKKYYCDTKKLNYRFPNI->SLCLSVTLTEGGLLASGAVKRSQMGSSVSQATSWPHPDIVAETAELDDIAMARQTPVMLRFNRQKEQEKYLSYGA;Ontology_term=ECO:0000303;evidenc
Q00532266323268276Alternative sequenceID=VSP_059391;Note=In isoform 3. CLHMDPTQR->RVPIASRTE
Q00532266323277358Alternative sequenceID=VSP_059392;Note=In isoform 3. Missing
Q005322663231358ChainID=PRO_0000085810;Note=Cyclin-dependent kinase-like 1
Q005322663235288DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q00532266323259268HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AGU
Q00532266323279283HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AGU
Q00532266323286288HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AGU
Q00532266323275275Natural variantID=VAR_020577;Note=Q->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1639063,ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:29420175,ECO:0000269|Ref.3;Dbxref=dbSNP:rs7161563,PMID:1639063,PMID:17344846,PMID:2942
Q00532266323302302Sequence conflictNote=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q00532266323273275TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AGU


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
Q00532247266248358Alternative sequenceID=VSP_041242;Note=In isoform 2. EPLELKFPNISYPALGLLKGCLHMDPTQRLTCEQLLHHPYFENIREIEDLAKEHNKPTRKTLRKSRKHHCFTETSKLQYLPQLTGSSILPALDNKKYYCDTKKLNYRFPNI->SLCLSVTLTEGGLLASGAVKRSQMGSSVSQATSWPHPDIVAETAELDDIAMARQTPVMLRFNRQKEQEKYLSYGA;Ontology_term=ECO:0000303;evidenc
Q005322472661358ChainID=PRO_0000085810;Note=Cyclin-dependent kinase-like 1
Q005322472665288DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q00532247266250253HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AGU
Q00532247266259268HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AGU
Q00532266323248358Alternative sequenceID=VSP_041242;Note=In isoform 2. EPLELKFPNISYPALGLLKGCLHMDPTQRLTCEQLLHHPYFENIREIEDLAKEHNKPTRKTLRKSRKHHCFTETSKLQYLPQLTGSSILPALDNKKYYCDTKKLNYRFPNI->SLCLSVTLTEGGLLASGAVKRSQMGSSVSQATSWPHPDIVAETAELDDIAMARQTPVMLRFNRQKEQEKYLSYGA;Ontology_term=ECO:0000303;evidenc
Q00532266323268276Alternative sequenceID=VSP_059391;Note=In isoform 3. CLHMDPTQR->RVPIASRTE
Q00532266323277358Alternative sequenceID=VSP_059392;Note=In isoform 3. Missing
Q005322663231358ChainID=PRO_0000085810;Note=Cyclin-dependent kinase-like 1
Q005322663235288DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q00532266323259268HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AGU
Q00532266323279283HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AGU
Q00532266323286288HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AGU
Q00532266323275275Natural variantID=VAR_020577;Note=Q->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1639063,ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:29420175,ECO:0000269|Ref.3;Dbxref=dbSNP:rs7161563,PMID:1639063,PMID:17344846,PMID:2942
Q00532266323302302Sequence conflictNote=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q00532266323273275TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AGU


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SNVs in the skipped exons for CDKL1

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_113173
50798980507991505079904050799040Frame_Shift_DelT-p.K303fs
LIHCTCGA-DD-A39Y-01exon_skip_113178
50811704508117765081171050811710Frame_Shift_DelT-p.K120fs
LIHCTCGA-DD-A3A0-01exon_skip_113178
50811704508117765081171850811718Frame_Shift_DelA-p.C118fs
READTCGA-F5-6814-01exon_skip_113173
50798980507991505079899150798991Nonsense_MutationCAp.E320X
UCECTCGA-BS-A0UV-01exon_skip_113173
50798980507991505079907250799072Nonsense_MutationCAp.E293*
ESCATCGA-VR-A8EX-01exon_skip_113179
50825746508258675082586850825868Splice_SiteCA.

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
NCIH2073_LUNG50798980507991505079911650799116Missense_MutationGAp.T278I
NCIH1993_LUNG50798980507991505079911650799116Missense_MutationGAp.T278I
NCIH1793_LUNG50825746508258675082581150825811Missense_MutationCAp.R76S
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE50825746508258675082586350825863Missense_MutationAGp.L59P
MFE319_ENDOMETRIUM50811704508117765081174350811743Nonsense_MutationCTp.W109*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CDKL1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1ACCrs7161563chr14:50799126C/G4.73e-05
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1CESCrs7161563chr14:50799126C/G7.57e-07
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1CESCrs7161563chr14:50799126C/G1.32e-06
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1COADrs7161563chr14:50799126C/G1.44e-07
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1COADrs7161563chr14:50799126C/G1.44e-07
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1BLCArs7161563chr14:50799126C/G1.09e-08
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1BLCArs7161563chr14:50799126C/G4.72e-08
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1HNSCrs7161563chr14:50799126C/G2.12e-10
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1HNSCrs7161563chr14:50799126C/G2.12e-10
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1BRCArs7161563chr14:50799126C/G1.90e-14
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1BRCArs7161563chr14:50799126C/G1.90e-14
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1BRCArs7161563chr14:50799126C/G7.64e-04
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1KIRPrs7161563chr14:50799126C/G3.03e-10
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1KIRPrs7161563chr14:50799126C/G3.04e-10
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1LGGrs7161563chr14:50799126C/G2.38e-07
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1LGGrs7161563chr14:50799126C/G3.02e-04
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1LGGrs7161563chr14:50799126C/G3.02e-04
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1KIRCrs7161563chr14:50799126C/G3.08e-21
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1KIRCrs7161563chr14:50799126C/G6.72e-13
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1KIRCrs7161563chr14:50799126C/G6.72e-13
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1LUADrs7161563chr14:50799126C/G6.04e-07
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1LUADrs7161563chr14:50799126C/G6.04e-07
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1LIHCrs7161563chr14:50799126C/G2.41e-05
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1LIHCrs7161563chr14:50799126C/G2.42e-05
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1LUSCrs7161563chr14:50799126C/G4.66e-07
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1LUSCrs7161563chr14:50799126C/G4.66e-07
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1OVrs7161563chr14:50799126C/G1.16e-05
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1OVrs7161563chr14:50799126C/G1.16e-05
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1PAADrs7161563chr14:50799126C/G2.76e-05
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1PAADrs7161563chr14:50799126C/G2.76e-05
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1PRADrs7161563chr14:50799126C/G1.22e-07
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1PRADrs7161563chr14:50799126C/G1.22e-07
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1SARCrs7161563chr14:50799126C/G2.57e-15
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1SARCrs7161563chr14:50799126C/G2.57e-15
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1STADrs7161563chr14:50799126C/G1.88e-03
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1THCArs7161563chr14:50799126C/G2.83e-04
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1THCArs7161563chr14:50799126C/G2.83e-04
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1THCArs7161563chr14:50799126C/G3.07e-03
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1UCECrs7161563chr14:50799126C/G6.78e-06
exon_skip_1131731450796829:50796899:50798979:50799150:50801282:5080133950798979:50799150ENST00000395834.1UCECrs7161563chr14:50799126C/G6.78e-06

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CDKL1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CDKL1


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RelatedDrugs for CDKL1

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
Q00532DB12010FostamatinibCyclin-dependent kinase-like 1 {ECO:0000305}small moleculeapproved|investigational

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RelatedDiseases for CDKL1

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