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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 CHD1L

check button Gene summary
Gene informationGene symbol

CHD1L

Gene ID

9557

Gene namechromodomain helicase DNA binding protein 1 like
SynonymsALC1|CHDL
Cytomap

1q21.1

Type of geneprotein-coding
Descriptionchromodomain-helicase-DNA-binding protein 1-likeamplified in liver cancer 1amplified in liver cancer protein 1
Modification date20180522
UniProtAcc

Q86WJ1

ContextPubMed: CHD1L [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
CHD1L

GO:0006338

chromatin remodeling

19661379

CHD1L

GO:0006974

cellular response to DNA damage stimulus

19661379


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Exon skipping events across known transcript of Ensembl for CHD1L 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 CHD1L

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 CHD1L

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_94111146714395:146714480:146724277:146724390:146726524:146726631146724277:146724390ENSG00000131778.13ENST00000369258.4,ENST00000492728.1,ENST00000467213.1
exon_skip_94211146714395:146714480:146731490:146731572:146737590:146737746146731490:146731572ENSG00000131778.13ENST00000361293.5
exon_skip_94241146714395:146714480:146737590:146737746:146739084:146739177146737590:146737746ENSG00000131778.13ENST00000369259.3,ENST00000488864.1
exon_skip_94261146724277:146724390:146726524:146726631:146727467:146727582146726524:146726631ENSG00000131778.13ENST00000369258.4,ENST00000431239.1,ENST00000492728.1,ENST00000467213.1
exon_skip_94301146727467:146727582:146728184:146728216:146731490:146731572146728184:146728216ENSG00000131778.13ENST00000369258.4,ENST00000431239.1,ENST00000492728.1,ENST00000467213.1
exon_skip_94321146728184:146728216:146731490:146731572:146736080:146736243146731490:146731572ENSG00000131778.13ENST00000369258.4,ENST00000431239.1,ENST00000467213.1
exon_skip_94351146731490:146731572:146736080:146736243:146737590:146737746146736080:146736243ENSG00000131778.13ENST00000369258.4,ENST00000431239.1,ENST00000467213.1
exon_skip_94421146739084:146739177:146740440:146740537:146747016:146747072146740440:146740537ENSG00000131778.13ENST00000467213.1
exon_skip_94461146740440:146740537:146742592:146742666:146743831:146743942146742592:146742666ENSG00000131778.13ENST00000361293.5,ENST00000369258.4,ENST00000369259.3,ENST00000488864.1
exon_skip_94551146742592:146742666:146743831:146743942:146747016:146747072146743831:146743942ENSG00000131778.13ENST00000361293.5,ENST00000369258.4,ENST00000369259.3,ENST00000488864.1
exon_skip_94621146747767:146747921:146751698:146751864:146756023:146756172146751698:146751864ENSG00000131778.13ENST00000361293.5,ENST00000369258.4,ENST00000369259.3,ENST00000431239.1,ENST00000467213.1
exon_skip_94681146751698:146751864:146756023:146756172:146757000:146757164146756023:146756172ENSG00000131778.13ENST00000361293.5,ENST00000369258.4,ENST00000369259.3,ENST00000431239.1,ENST00000467213.1
exon_skip_94721146757000:146757164:146757974:146758177:146759313:146759412146757974:146758177ENSG00000131778.13ENST00000361293.5,ENST00000369258.4,ENST00000369259.3,ENST00000431239.1,ENST00000467213.1
exon_skip_94741146763163:146763234:146765291:146765406:146766090:146766199146765291:146765406ENSG00000131778.13ENST00000361293.5,ENST00000369258.4,ENST00000369259.3,ENST00000431239.1,ENST00000467213.1

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

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Exon skipping events with PSIs in GTEx for CHD1L

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_94111146714395:146714480:146724277:146724390:146726524:146726631146724277:146724390ENSG00000131778.13ENST00000369258.4,ENST00000467213.1,ENST00000492728.1
exon_skip_94211146714395:146714480:146731490:146731572:146737590:146737746146731490:146731572ENSG00000131778.13ENST00000361293.5
exon_skip_94241146714395:146714480:146737590:146737746:146739084:146739177146737590:146737746ENSG00000131778.13ENST00000369259.3,ENST00000488864.1
exon_skip_94261146724277:146724390:146726524:146726631:146727467:146727582146726524:146726631ENSG00000131778.13ENST00000431239.1,ENST00000369258.4,ENST00000467213.1,ENST00000492728.1
exon_skip_94301146727467:146727582:146728184:146728216:146731490:146731572146728184:146728216ENSG00000131778.13ENST00000431239.1,ENST00000369258.4,ENST00000467213.1,ENST00000492728.1
exon_skip_94321146728184:146728216:146731490:146731572:146736080:146736243146731490:146731572ENSG00000131778.13ENST00000431239.1,ENST00000369258.4,ENST00000467213.1
exon_skip_94351146731490:146731572:146736080:146736243:146737590:146737746146736080:146736243ENSG00000131778.13ENST00000431239.1,ENST00000369258.4,ENST00000467213.1
exon_skip_94421146739084:146739177:146740440:146740537:146747016:146747072146740440:146740537ENSG00000131778.13ENST00000467213.1
exon_skip_94461146740440:146740537:146742592:146742666:146743831:146743942146742592:146742666ENSG00000131778.13ENST00000369259.3,ENST00000488864.1,ENST00000369258.4,ENST00000361293.5
exon_skip_94551146742592:146742666:146743831:146743942:146747016:146747072146743831:146743942ENSG00000131778.13ENST00000369259.3,ENST00000488864.1,ENST00000369258.4,ENST00000361293.5
exon_skip_94621146747767:146747921:146751698:146751864:146756023:146756172146751698:146751864ENSG00000131778.13ENST00000431239.1,ENST00000369259.3,ENST00000369258.4,ENST00000467213.1,ENST00000361293.5
exon_skip_94681146751698:146751864:146756023:146756172:146757000:146757164146756023:146756172ENSG00000131778.13ENST00000431239.1,ENST00000369259.3,ENST00000369258.4,ENST00000467213.1,ENST00000361293.5
exon_skip_94721146757000:146757164:146757974:146758177:146759313:146759412146757974:146758177ENSG00000131778.13ENST00000431239.1,ENST00000369259.3,ENST00000369258.4,ENST00000467213.1,ENST00000361293.5
exon_skip_94741146763163:146763234:146765291:146765406:146766090:146766199146765291:146765406ENSG00000131778.13ENST00000431239.1,ENST00000369259.3,ENST00000369258.4,ENST00000467213.1,ENST00000361293.5

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 CHD1L

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
ENST00000369258146724277146724390Frame-shift
ENST00000369258146726524146726631Frame-shift
ENST00000369258146728184146728216Frame-shift
ENST00000369258146731490146731572Frame-shift
ENST00000369258146736080146736243Frame-shift
ENST00000369258146742592146742666Frame-shift
ENST00000369258146751698146751864Frame-shift
ENST00000369258146756023146756172Frame-shift
ENST00000369258146757974146758177Frame-shift
ENST00000369258146765291146765406Frame-shift
ENST00000369258146743831146743942In-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
ENST00000369258146724277146724390Frame-shift
ENST00000369258146726524146726631Frame-shift
ENST00000369258146728184146728216Frame-shift
ENST00000369258146731490146731572Frame-shift
ENST00000369258146736080146736243Frame-shift
ENST00000369258146742592146742666Frame-shift
ENST00000369258146751698146751864Frame-shift
ENST00000369258146756023146756172Frame-shift
ENST00000369258146757974146758177Frame-shift
ENST00000369258146765291146765406Frame-shift
ENST00000369258146743831146743942In-frame

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Infer the effects of exon skipping event on protein functional features for CHD1L

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
ENST00000369258298489714674383114674394211801290386423

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
ENST00000369258298489714674383114674394211801290386423

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


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


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SNVs in the skipped exons for CHD1L

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.
CHD1L_COAD_exon_skip_9462_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-A1EG-01exon_skip_9426
146726525146726631146726545146726545Frame_Shift_DelT-p.Y87fs
LIHCTCGA-DD-A1EG-01exon_skip_9432
exon_skip_9421
146731491146731572146731534146731534Frame_Shift_DelA-p.K180fs
LIHCTCGA-DD-A3A0-01exon_skip_9432
exon_skip_9421
146731491146731572146731534146731534Frame_Shift_DelA-p.K180fs
LIHCTCGA-DD-A3A0-01exon_skip_9432
exon_skip_9421
146731491146731572146731541146731541Frame_Shift_DelA-p.Q182fs
LIHCTCGA-DD-A3A0-01exon_skip_9424
146737591146737746146737605146737605Frame_Shift_DelA-p.K252fs
LUADTCGA-55-A4DF-01exon_skip_9468
146756024146756172146756081146756099Frame_Shift_DelACAGAAAATCATTTGAACA-p.DRKSFEQ588fs
LIHCTCGA-G3-A3CJ-01exon_skip_9468
146756024146756172146756116146756116Frame_Shift_DelA-p.K600fs
LIHCTCGA-G3-A3CJ-01exon_skip_9468
146756024146756172146756131146756131Frame_Shift_DelA-p.K605fs
LIHCTCGA-DD-A1EG-01exon_skip_9472
146757975146758177146758130146758130Frame_Shift_DelC-p.T725fs
LIHCTCGA-G3-A3CJ-01exon_skip_9472
146757975146758177146758144146758144Frame_Shift_DelG-p.G730fs
LIHCTCGA-BC-A112-01exon_skip_9424
146737591146737746146737661146737662Frame_Shift_Ins-Cp.Q271fs
UCECTCGA-AP-A0LE-01exon_skip_9411
146724278146724390146724358146724358Nonsense_MutationGTp.G70*
SARCTCGA-QC-A7B5-01exon_skip_9435
146736081146736243146736135146736135Nonsense_MutationCTp.Q211*
LGGTCGA-DU-6392-01exon_skip_9435
146736081146736243146736231146736231Nonsense_MutationGTp.E243*
COADTCGA-D5-5537-01exon_skip_9462
146751699146751864146751866146751866Splice_SiteTG.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
CHD1L_146747767_146747921_146751698_146751864_146756023_146756172_TCGA-D5-5537-01Sample: TCGA-D5-5537-01
Cancer type: COAD
ESID: exon_skip_9462
Skipped exon start: 146751699
Skipped exon end: 146751864
Mutation start: 146751866
Mutation end: 146751866
Mutation type: Splice_Site
Reference seq: T
Mutation seq: G
AAchange: .
exon_skip_9462_COAD_TCGA-D5-5537-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HEYA8_OVARY146743832146743942146743838146743850Frame_Shift_DelGCTATGAGCGTGT-p.SYERV389fs
HEY_OVARY146743832146743942146743838146743850Frame_Shift_DelGCTATGAGCGTGT-p.SYERV389fs
NCIH748_LUNG146751699146751864146751837146751840Frame_Shift_DelGGAG-p.GG560fs
KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE146724278146724390146724325146724326Frame_Shift_Ins-Ap.Q59fs
UMUC1_URINARY_TRACT146765292146765406146765392146765393Frame_Shift_Ins-Ap.AK831fs
DJM1_SKIN146743832146743942146743926146743937In_Frame_DelCCTGAGTACTAG-p.LSTR419del
NCIH1568_LUNG146724278146724390146724280146724280Missense_MutationATp.I44F
GP2D_LARGE_INTESTINE146726525146726631146726582146726582Missense_MutationACp.I100L
TM31_CENTRAL_NERVOUS_SYSTEM146726525146726631146726600146726600Missense_MutationGTp.V106F
GP5D_LARGE_INTESTINE146731491146731572146731498146731498Missense_MutationTCp.W168R
LS180_LARGE_INTESTINE146731491146731572146731549146731549Missense_MutationCAp.L185M
SNU1066_UPPER_AERODIGESTIVE_TRACT146736081146736243146736159146736159Missense_MutationTGp.F219V
NCIH596_LUNG146736081146736243146736225146736225Missense_MutationGCp.E241Q
253J_URINARY_TRACT146737591146737746146737733146737733Missense_MutationGTp.L294F
253JBV_URINARY_TRACT146737591146737746146737733146737733Missense_MutationGTp.L294F
JHUEM2_ENDOMETRIUM146740441146740537146740503146740503Missense_MutationCGp.L351V
RERFLCFM_LUNG146740441146740537146740521146740521Missense_MutationGTp.A357S
TASK1_CENTRAL_NERVOUS_SYSTEM146740441146740537146740521146740521Missense_MutationGTp.A357S
TK10_KIDNEY146742593146742666146742600146742600Missense_MutationCTp.R365W
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE146743832146743942146743846146743846Missense_MutationCTp.R392C
HCC2998_LARGE_INTESTINE146751699146751864146751715146751715Missense_MutationAGp.K519R
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE146751699146751864146751738146751738Missense_MutationGTp.A527S
EN_ENDOMETRIUM146751699146751864146751748146751748Missense_MutationGAp.G530E
NCIH128_LUNG146751699146751864146751819146751819Missense_MutationGAp.A554T
JHOS3_OVARY146751699146751864146751829146751829Missense_MutationCTp.A557V
OCUM1_STOMACH146756024146756172146756029146756029Missense_MutationCTp.H571Y
TYKNU_OVARY146756024146756172146756029146756029Missense_MutationCTp.H571Y
KPNYN_AUTONOMIC_GANGLIA146756024146756172146756029146756029Missense_MutationCTp.H571Y
HUO9_BONE146756024146756172146756114146756114Missense_MutationACp.Q599P
CPCN_LUNG146756024146756172146756117146756117Missense_MutationACp.K600T
SW48_LARGE_INTESTINE146757975146758177146758126146758126Missense_MutationGAp.V724I
NB6_AUTONOMIC_GANGLIA146757975146758177146758162146758162Missense_MutationAGp.I736V
SF172_CENTRAL_NERVOUS_SYSTEM146765292146765406146765316146765316Missense_MutationCTp.R806C
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE146765292146765406146765356146765356Missense_MutationCTp.A819V
CW2_LARGE_INTESTINE146736081146736243146736186146736186Nonsense_MutationGTp.E228*
BT483_BREAST146757975146758177146758024146758024Nonsense_MutationGTp.E690*
NCIH630_LARGE_INTESTINE146751699146751864146751864146751864Splice_SiteACp.K569Q

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHD1L

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_94351146731490:146731572:146736080:146736243:146737590:146737746146736080:146736243ENST00000369258.4,ENST00000431239.1,ENST00000467213.1COADrs4950315chr1:146736092A/G3.54e-04
exon_skip_94351146731490:146731572:146736080:146736243:146737590:146737746146736080:146736243ENST00000369258.4,ENST00000431239.1,ENST00000467213.1BLCArs4950315chr1:146736092A/G1.77e-04
exon_skip_94351146731490:146731572:146736080:146736243:146737590:146737746146736080:146736243ENST00000369258.4,ENST00000431239.1,ENST00000467213.1HNSCrs4950315chr1:146736092A/G2.07e-03
exon_skip_94351146731490:146731572:146736080:146736243:146737590:146737746146736080:146736243ENST00000369258.4,ENST00000431239.1,ENST00000467213.1LGGrs4950315chr1:146736092A/G3.98e-17
exon_skip_94351146731490:146731572:146736080:146736243:146737590:146737746146736080:146736243ENST00000369258.4,ENST00000431239.1,ENST00000467213.1KIRCrs4950315chr1:146736092A/G9.14e-04
exon_skip_94351146731490:146731572:146736080:146736243:146737590:146737746146736080:146736243ENST00000369258.4,ENST00000431239.1,ENST00000467213.1LUADrs4950315chr1:146736092A/G2.80e-05
exon_skip_94351146731490:146731572:146736080:146736243:146737590:146737746146736080:146736243ENST00000369258.4,ENST00000431239.1,ENST00000467213.1LIHCrs4950315chr1:146736092A/G2.36e-07
exon_skip_94351146731490:146731572:146736080:146736243:146737590:146737746146736080:146736243ENST00000369258.4,ENST00000431239.1,ENST00000467213.1LUSCrs4950315chr1:146736092A/G3.92e-09
exon_skip_94351146731490:146731572:146736080:146736243:146737590:146737746146736080:146736243ENST00000369258.4,ENST00000431239.1,ENST00000467213.1OVrs4950315chr1:146736092A/G8.43e-06
exon_skip_94351146731490:146731572:146736080:146736243:146737590:146737746146736080:146736243ENST00000369258.4,ENST00000431239.1,ENST00000467213.1PCPGrs4950315chr1:146736092A/G1.02e-05
exon_skip_94351146731490:146731572:146736080:146736243:146737590:146737746146736080:146736243ENST00000369258.4,ENST00000431239.1,ENST00000467213.1PRADrs4950315chr1:146736092A/G2.75e-03
exon_skip_94351146731490:146731572:146736080:146736243:146737590:146737746146736080:146736243ENST00000369258.4,ENST00000431239.1,ENST00000467213.1STADrs4950315chr1:146736092A/G1.13e-06
exon_skip_94351146731490:146731572:146736080:146736243:146737590:146737746146736080:146736243ENST00000369258.4,ENST00000431239.1,ENST00000467213.1THCArs4950315chr1:146736092A/G2.49e-06
exon_skip_94421146739084:146739177:146740440:146740537:146747016:146747072146740440:146740537ENST00000467213.1COADrs17356233chr1:146740502C/G6.83e-04
exon_skip_94421146739084:146739177:146740440:146740537:146747016:146747072146740440:146740537ENST00000467213.1BLCArs17356233chr1:146740502C/G1.60e-04
exon_skip_94421146739084:146739177:146740440:146740537:146747016:146747072146740440:146740537ENST00000467213.1HNSCrs17356233chr1:146740502C/G1.26e-03
exon_skip_94421146739084:146739177:146740440:146740537:146747016:146747072146740440:146740537ENST00000467213.1BRCArs17356233chr1:146740502C/G3.48e-10
exon_skip_94421146739084:146739177:146740440:146740537:146747016:146747072146740440:146740537ENST00000467213.1LGGrs17356233chr1:146740502C/G2.20e-17
exon_skip_94421146739084:146739177:146740440:146740537:146747016:146747072146740440:146740537ENST00000467213.1KIRCrs17356233chr1:146740502C/G1.84e-03
exon_skip_94421146739084:146739177:146740440:146740537:146747016:146747072146740440:146740537ENST00000467213.1LUADrs17356233chr1:146740502C/G1.27e-05
exon_skip_94421146739084:146739177:146740440:146740537:146747016:146747072146740440:146740537ENST00000467213.1LIHCrs17356233chr1:146740502C/G8.79e-08
exon_skip_94421146739084:146739177:146740440:146740537:146747016:146747072146740440:146740537ENST00000467213.1LUSCrs17356233chr1:146740502C/G1.96e-08
exon_skip_94421146739084:146739177:146740440:146740537:146747016:146747072146740440:146740537ENST00000467213.1OVrs17356233chr1:146740502C/G1.69e-05
exon_skip_94421146739084:146739177:146740440:146740537:146747016:146747072146740440:146740537ENST00000467213.1PCPGrs17356233chr1:146740502C/G1.61e-05
exon_skip_94421146739084:146739177:146740440:146740537:146747016:146747072146740440:146740537ENST00000467213.1PRADrs17356233chr1:146740502C/G1.27e-03
exon_skip_94421146739084:146739177:146740440:146740537:146747016:146747072146740440:146740537ENST00000467213.1STADrs17356233chr1:146740502C/G7.00e-06
exon_skip_94421146739084:146739177:146740440:146740537:146747016:146747072146740440:146740537ENST00000467213.1THCArs17356233chr1:146740502C/G1.93e-06

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHD1L


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHD1L


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RelatedDrugs for CHD1L

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 CHD1L

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
CHD1LC0236969Substance-Related Disorders1CTD_human