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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 CLOCK

check button Gene summary
Gene informationGene symbol

CLOCK

Gene ID

9575

Gene nameclock circadian regulator
SynonymsKAT13D|bHLHe8
Cytomap

4q12

Type of geneprotein-coding
Descriptioncircadian locomoter output cycles protein kaputcircadian locomoter output cycles kaput proteinclass E basic helix-loop-helix protein 8clock homolog
Modification date20180519
UniProtAcc

O15516

ContextPubMed: CLOCK [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
CLOCK

GO:0006473

protein acetylation

28985504

CLOCK

GO:0032922

circadian regulation of gene expression

24005054

CLOCK

GO:0045893

positive regulation of transcription, DNA-templated

23785138

CLOCK

GO:0051775

response to redox state

11441146

CLOCK

GO:0071479

cellular response to ionizing radiation

21659603


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Exon skipping events across known transcript of Ensembl for CLOCK 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 CLOCK

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 CLOCK

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_429596456304448:56304574:56308598:56308801:56309853:5630992256308598:56308801ENSG00000134852.10ENST00000511124.1
exon_skip_429597456304448:56304704:56308598:56308801:56309853:5630992256308598:56308801ENSG00000134852.10ENST00000309964.4,ENST00000381322.1,ENST00000513440.1
exon_skip_429598456310799:56310952:56314945:56315035:56315562:5631559356314945:56315035ENSG00000134852.10ENST00000309964.4,ENST00000511124.1,ENST00000381322.1,ENST00000513440.1
exon_skip_429599456319220:56319296:56319843:56319991:56322063:5632217056319843:56319991ENSG00000134852.10ENST00000309964.4,ENST00000381322.1,ENST00000513440.1
exon_skip_429600456325314:56325428:56329851:56329972:56336883:5633697356329851:56329972ENSG00000134852.10ENST00000309964.4,ENST00000506747.1,ENST00000381322.1,ENST00000513440.1
exon_skip_429602456329864:56329972:56336883:56336973:56342129:5634222156336883:56336973ENSG00000134852.10ENST00000309964.4,ENST00000506747.1,ENST00000435527.2,ENST00000381322.1,ENST00000513440.1
exon_skip_429603456336910:56336973:56342129:56342221:56344981:5634513056342129:56342221ENSG00000134852.10ENST00000309964.4,ENST00000506747.1,ENST00000435527.2,ENST00000381322.1,ENST00000513440.1,ENST00000508049.1
exon_skip_429604456342129:56342221:56344981:56345130:56345806:5634586656344981:56345130ENSG00000134852.10ENST00000309964.4,ENST00000506747.1,ENST00000435527.2,ENST00000381322.1,ENST00000513440.1
exon_skip_429608456348939:56348995:56352559:56352716:56355540:5635563256352559:56352716ENSG00000134852.10ENST00000381322.1,ENST00000506923.1
exon_skip_429609456355540:56355632:56376078:56376232:56412648:5641271356376078:56376232ENSG00000134852.10ENST00000513033.1,ENST00000509151.1
exon_skip_429610456355540:56355632:56376078:56376232:56412948:5641304856376078:56376232ENSG00000134852.10ENST00000513440.1

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

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Exon skipping events with PSIs in GTEx for CLOCK

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_429596456304448:56304574:56308598:56308801:56309853:5630992256308598:56308801ENSG00000134852.10ENST00000511124.1
exon_skip_429597456304448:56304704:56308598:56308801:56309853:5630992256308598:56308801ENSG00000134852.10ENST00000309964.4,ENST00000381322.1,ENST00000513440.1
exon_skip_429598456310799:56310952:56314945:56315035:56315562:5631559356314945:56315035ENSG00000134852.10ENST00000309964.4,ENST00000511124.1,ENST00000381322.1,ENST00000513440.1
exon_skip_429599456319220:56319296:56319843:56319991:56322063:5632217056319843:56319991ENSG00000134852.10ENST00000309964.4,ENST00000381322.1,ENST00000513440.1
exon_skip_429600456325314:56325428:56329851:56329972:56336883:5633697356329851:56329972ENSG00000134852.10ENST00000309964.4,ENST00000381322.1,ENST00000513440.1,ENST00000506747.1
exon_skip_429603456336910:56336973:56342129:56342221:56344981:5634513056342129:56342221ENSG00000134852.10ENST00000309964.4,ENST00000381322.1,ENST00000513440.1,ENST00000506747.1,ENST00000435527.2,ENST00000508049.1
exon_skip_429604456342129:56342221:56344981:56345130:56345806:5634586656344981:56345130ENSG00000134852.10ENST00000309964.4,ENST00000381322.1,ENST00000513440.1,ENST00000506747.1,ENST00000435527.2
exon_skip_429608456348939:56348995:56352559:56352716:56355540:5635563256352559:56352716ENSG00000134852.10ENST00000381322.1,ENST00000506923.1
exon_skip_429609456355540:56355632:56376078:56376232:56412648:5641271356376078:56376232ENSG00000134852.10ENST00000509151.1,ENST00000513033.1
exon_skip_429610456355540:56355632:56376078:56376232:56412948:5641304856376078:56376232ENSG00000134852.10ENST00000513440.1

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 CLOCK

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
ENST0000038132256352559563527163UTR-3UTR
ENST0000051344056376078563762323UTR-3UTR
ENST000003099645630859856308801Frame-shift
ENST000003813225630859856308801Frame-shift
ENST000005134405630859856308801Frame-shift
ENST000003099645631984356319991Frame-shift
ENST000003813225631984356319991Frame-shift
ENST000005134405631984356319991Frame-shift
ENST000003099645632985156329972Frame-shift
ENST000003813225632985156329972Frame-shift
ENST000005134405632985156329972Frame-shift
ENST000003099645634212956342221Frame-shift
ENST000003813225634212956342221Frame-shift
ENST000005134405634212956342221Frame-shift
ENST000003099645634498156345130Frame-shift
ENST000003813225634498156345130Frame-shift
ENST000005134405634498156345130Frame-shift
ENST000003099645631494556315035In-frame
ENST000003813225631494556315035In-frame
ENST000005134405631494556315035In-frame
ENST000003099645633688356336973In-frame
ENST000003813225633688356336973In-frame
ENST000005134405633688356336973In-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
ENST0000038132256352559563527163UTR-3UTR
ENST0000051344056376078563762323UTR-3UTR
ENST000003099645630859856308801Frame-shift
ENST000003813225630859856308801Frame-shift
ENST000005134405630859856308801Frame-shift
ENST000003099645631984356319991Frame-shift
ENST000003813225631984356319991Frame-shift
ENST000005134405631984356319991Frame-shift
ENST000003099645632985156329972Frame-shift
ENST000003813225632985156329972Frame-shift
ENST000005134405632985156329972Frame-shift
ENST000003099645634212956342221Frame-shift
ENST000003813225634212956342221Frame-shift
ENST000005134405634212956342221Frame-shift
ENST000003099645634498156345130Frame-shift
ENST000003813225634498156345130Frame-shift
ENST000005134405634498156345130Frame-shift
ENST000003099645631494556315035In-frame
ENST000003813225631494556315035In-frame
ENST000005134405631494556315035In-frame

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

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
ENST00000309964103218465633688356336973600689116146
ENST000003813224076846563368835633697312751364116146
ENST00000513440359784656336883563369739951084116146
ENST0000030996410321846563149455631503517011790483513
ENST000003813224076846563149455631503523762465483513
ENST000005134403597846563149455631503520962185483513

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
ENST0000030996410321846563149455631503517011790483513
ENST000003813224076846563149455631503523762465483513
ENST000005134403597846563149455631503520962185483513

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
O155161161461846ChainID=PRO_0000127163;Note=Circadian locomoter output cycles protein kaput
O155161161461846ChainID=PRO_0000127163;Note=Circadian locomoter output cycles protein kaput
O155161161461846ChainID=PRO_0000127163;Note=Circadian locomoter output cycles protein kaput
O15516116146107177DomainNote=PAS 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00140
O15516116146107177DomainNote=PAS 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00140
O15516116146107177DomainNote=PAS 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00140
O15516116146116116MutagenesisNote=3-fold increase in PER1 reporter activity by CLOCK-ARNTL/BMAL1. Some reduction of CRY1 inhibition of CLOCK-ARNTL/BMAL1 transcriptional activity%3B when associated with K-367 and L-601. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:164744
O15516116146116116MutagenesisNote=3-fold increase in PER1 reporter activity by CLOCK-ARNTL/BMAL1. Some reduction of CRY1 inhibition of CLOCK-ARNTL/BMAL1 transcriptional activity%3B when associated with K-367 and L-601. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:164744
O15516116146116116MutagenesisNote=3-fold increase in PER1 reporter activity by CLOCK-ARNTL/BMAL1. Some reduction of CRY1 inhibition of CLOCK-ARNTL/BMAL1 transcriptional activity%3B when associated with K-367 and L-601. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:164744
O155164835131846ChainID=PRO_0000127163;Note=Circadian locomoter output cycles protein kaput
O155164835131846ChainID=PRO_0000127163;Note=Circadian locomoter output cycles protein kaput
O155164835131846ChainID=PRO_0000127163;Note=Circadian locomoter output cycles protein kaput
O15516483513371845RegionNote=Interaction with NR3C1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08785
O15516483513371845RegionNote=Interaction with NR3C1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08785
O15516483513371845RegionNote=Interaction with NR3C1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08785
O15516483513450570RegionNote=Interaction with SIRT1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08785
O15516483513450570RegionNote=Interaction with SIRT1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08785
O15516483513450570RegionNote=Interaction with SIRT1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08785


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
O155164835131846ChainID=PRO_0000127163;Note=Circadian locomoter output cycles protein kaput
O155164835131846ChainID=PRO_0000127163;Note=Circadian locomoter output cycles protein kaput
O155164835131846ChainID=PRO_0000127163;Note=Circadian locomoter output cycles protein kaput
O15516483513371845RegionNote=Interaction with NR3C1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08785
O15516483513371845RegionNote=Interaction with NR3C1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08785
O15516483513371845RegionNote=Interaction with NR3C1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08785
O15516483513450570RegionNote=Interaction with SIRT1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08785
O15516483513450570RegionNote=Interaction with SIRT1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08785
O15516483513450570RegionNote=Interaction with SIRT1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08785


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SNVs in the skipped exons for CLOCK

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_429596
exon_skip_429597
56308599563088015630864256308642Frame_Shift_DelG-p.Q688fs
LIHCTCGA-DD-A39Y-01exon_skip_429599
56319844563199915631987056319870Frame_Shift_DelA-p.F368fs
LIHCTCGA-DD-A39Y-01exon_skip_429600
56329852563299725632986656329866Frame_Shift_DelG-p.P182fs
ACCTCGA-OR-A5J5-01exon_skip_429602
56336884563369735633695456336954Frame_Shift_DelA-p.L123fs
GBMTCGA-32-4213-01exon_skip_429602
56336884563369735633695456336954Frame_Shift_DelA-p.L123fs
GBMTCGA-76-6286-01exon_skip_429602
56336884563369735633695456336954Frame_Shift_DelA-p.L123fs
HNSCTCGA-CN-A640-01exon_skip_429602
56336884563369735633695456336954Frame_Shift_DelA-p.L123fs
LUADTCGA-49-4487-01exon_skip_429602
56336884563369735633695456336954Frame_Shift_DelA-p.L123fs
PAADTCGA-M8-A5N4-01exon_skip_429602
56336884563369735633695456336954Frame_Shift_DelA-p.L123fs
SKCMTCGA-D3-A3CF-06exon_skip_429602
56336884563369735633695456336954Frame_Shift_DelA-p.L123fs
STADTCGA-CD-A4MG-01exon_skip_429602
56336884563369735633695456336955Frame_Shift_DelAA-p.123_123del
THYMTCGA-ZB-A966-01exon_skip_429602
56336884563369735633695456336954Frame_Shift_DelA-p.L123fs
LIHCTCGA-BC-A112-01exon_skip_429596
exon_skip_429597
56308599563088015630879056308791Frame_Shift_Ins-Tp.S638fs
ACCTCGA-PK-A5HB-01exon_skip_429602
56336884563369735633695356336954Frame_Shift_Ins-Ap.C123fs
ACCTCGA-PK-A5HB-01exon_skip_429602
56336884563369735633695356336954Frame_Shift_Ins-Ap.L123fs
COADTCGA-A6-5661-01exon_skip_429602
56336884563369735633695356336954Frame_Shift_Ins-Ap.L123fs
UCSTCGA-NG-A4VW-01exon_skip_429602
56336884563369735633695356336954Frame_Shift_Ins-Ap.C123fs
UCSTCGA-NG-A4VW-01exon_skip_429602
56336884563369735633695356336954Frame_Shift_Ins-Ap.L123fs
BLCATCGA-UY-A9PF-01exon_skip_429599
56319844563199915631988356319883Nonsense_MutationGCp.S364*
BLCATCGA-FD-A6TA-01exon_skip_429600
56329852563299725632988556329885Nonsense_MutationCAp.E176*
SKCMTCGA-EE-A3J5-06exon_skip_429603
56342130563422215634213256342132Nonsense_MutationCAp.E116*
SKCMTCGA-EE-A3J5-06exon_skip_429603
56342130563422215634213256342132Nonsense_MutationCAp.E116X
KIRCTCGA-B0-5097-01exon_skip_429598
56314946563150355631494456314944Splice_SiteAG.
KIRCTCGA-B0-5097-01exon_skip_429598
56314946563150355631494556314945Splice_SiteCA.
STADTCGA-BR-8363-01exon_skip_429602
56336884563369735633688256336882Splice_SiteAG.
STADTCGA-BR-8363-01exon_skip_429602
56336884563369735633688256336882Splice_SiteAGp.P146_splice

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
SKNDZ_AUTONOMIC_GANGLIA56308599563088015630871956308719Missense_MutationTCp.Y662C
SJSA1_BONE56314946563150355631502956315029Missense_MutationTGp.N486H
SNUC2A_LARGE_INTESTINE56319844563199915631989556319895Missense_MutationTCp.H360R
SNUC2B_LARGE_INTESTINE56319844563199915631989556319895Missense_MutationTCp.H360R
DMS454_LUNG56319844563199915631996156319961Missense_MutationTCp.Y338C
HCC1806_BREAST56329852563299725632991756329917Missense_MutationTGp.E165A
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE56336884563369735633692756336927Missense_MutationAGp.I132T
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE56336884563369735633692756336927Missense_MutationAGp.I132T
KGN_OVARY56336884563369735633695756336957Missense_MutationAGp.F122S
KYSE50_OESOPHAGUS56336884563369735633695756336957Missense_MutationAGp.F122S
PANC0403_PANCREAS56344982563451305634509156345091Missense_MutationTGp.Q49H
HEC1B_ENDOMETRIUM56344982563451305634510156345101Missense_MutationCTp.R46H
2313287_STOMACH56342130563422215634213056342130Splice_SiteCAp.E116D

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

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 CLOCK


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


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RelatedDrugs for CLOCK

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 CLOCK

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
CLOCKC0005586Bipolar Disorder5PSYGENET
CLOCKC0011570Mental Depression5PSYGENET
CLOCKC0011581Depressive disorder5PSYGENET
CLOCKC0041696Unipolar Depression5PSYGENET
CLOCKC0525045Mood Disorders5PSYGENET
CLOCKC1269683Major Depressive Disorder5PSYGENET
CLOCKC0085159Seasonal Affective Disorder3PSYGENET
CLOCKC3496069cocaine use2PSYGENET
CLOCKC0001957Alcohol Withdrawal Delirium1PSYGENET
CLOCKC0001973Alcoholic Intoxication, Chronic1PSYGENET
CLOCKC0036341Schizophrenia1PSYGENET
CLOCKC0600427Cocaine Dependence1PSYGENET