TISIDB

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Chromosomal Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway

> Subcellular Location, Domain and Function [ TOP ]
Subcellular Location	Nucleus Note=Localizes to the promoter regions of several CTNNB1-responsive genes. Also present at known CTCF target sites.
Domain	PF07533 BRK domain PF00385 Chromo (CHRromatin Organisation MOdifier) domain PF00271 Helicase conserved C-terminal domain PF00176 SNF2 family N-terminal domain
Function	DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase III transcription.

> Gene Ontology [ TOP ]
Biological Process	GO:0001701 in utero embryonic development GO:0006338 chromatin remodeling GO:0006359 regulation of transcription from RNA polymerase III promoter GO:0006383 transcription from RNA polymerase III promoter GO:0016055 Wnt signaling pathway GO:0030111 regulation of Wnt signaling pathway GO:0030178 negative regulation of Wnt signaling pathway GO:0032392 DNA geometric change GO:0032508 DNA duplex unwinding GO:0043044 ATP-dependent chromatin remodeling GO:0044346 fibroblast apoptotic process GO:0045945 positive regulation of transcription from RNA polymerase III promoter GO:0048565 digestive tract development GO:0055123 digestive system development GO:0060070 canonical Wnt signaling pathway GO:0060828 regulation of canonical Wnt signaling pathway GO:0071103 DNA conformation change GO:0090090 negative regulation of canonical Wnt signaling pathway GO:0198738 cell-cell signaling by wnt GO:2000269 regulation of fibroblast apoptotic process GO:2000270 negative regulation of fibroblast apoptotic process
Molecular Function	GO:0002039 p53 binding GO:0003678 DNA helicase activity GO:0003682 chromatin binding GO:0004386 helicase activity GO:0008013 beta-catenin binding GO:0008094 DNA-dependent ATPase activity GO:0016887 ATPase activity GO:0035064 methylated histone binding GO:0042393 histone binding GO:0042623 ATPase activity, coupled GO:0070016 armadillo repeat domain binding
Cellular Component	GO:0034708 methyltransferase complex GO:0035097 histone methyltransferase complex GO:0044665 MLL1/2 complex GO:0071339 MLL1 complex

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa04310 Wnt signaling pathway
Reactome	R-HSA-3769402: Deactivation of the beta-catenin transactivating complex R-HSA-162582: Signal Transduction R-HSA-195721: Signaling by Wnt R-HSA-201681: TCF dependent signaling in response to WNT

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Chromosomal Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between CHD8 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.

> Text Mining [ TOP ]
There is no record.

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Chromosomal Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.

> High-throughput Screening

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Statistical results of CHD8 in screening data sets for detecting immune reponses.

PMID	Screening System	Cancer Type	Cell Line	Data Set	Statistical Results	Relation to immunity
29301958	CRISPR-Cas9	melanoma	B16F10	Pmel-1 T cell	NA/NS	NA/NS
29301958	CRISPR-Cas9	melanoma	B16F10	OT-1 T cell	NA/NS	NA/NS
28783722	CRISPR-Cas9	melanoma	Mel624	2CT-CRISPR	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX+Anti-PD1	STARS Score: 3.71; FDR: 0.047	Sensitive to T cell-mediated killing
28723893	CRISPR-Cas9	melanoma	B16	GVAX	NA/NS	NA/NS
25691366	RNAi	Breast cancer	MCF7	Luc-CTL assay	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Primary screen	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Secondary screen	NA/NS	NA/NS

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Chromosomal Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders

> Expression difference between responders and non-responders

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Points in the above scatter plot represent the expression difference of CHD8 in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	Log2 (Fold Change)	P value
1	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	14	12	0.138	0.542
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	0.477	0.746
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	-0.113	0.922
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0.147	0.553
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	-0.035	0.989
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0.38	0.908
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.255	0.511
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	0.27	0.876
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	0.229	0.906
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	0.818	0.569
11	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	2	0	0	1
12	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	2	8	0.827	0.709
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	-0.016	0.715

> Mutation difference between responders and non-responders

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Points in the above scatter plot represent the mutation difference of CHD8 in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	% Mut/Res	% Mut/NRes	% Diff (R vs NR)	Pval
1	25765070	Non-small cell lung cancer (NSCLC)	all	Anti-PD-1 (pembrolizumab)	14	17	7.1	5.9	1.2	1
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	0	0	0	1
3	25765070	Non-small cell lung cancer (NSCLC)	non-smoking	Anti-PD-1 (pembrolizumab)	4	14	25	7.1	17.9	0.405
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	11.1	4.1	7	0.339
5	26359337	Melanoma	BRAFi	Anti-CTLA-4 (ipilimumab)	0	14	0	0	0	1
6	26359337	Melanoma	non-BRAFi	Anti-CTLA-4 (ipilimumab)	27	59	11.1	5.1	6	0.373
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	14.3	11.8	2.5	1
8	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	6	0	0	0	1
9	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	13	11	23.1	18.2	4.9	1
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	11.1	12.5	-1.4	1
11	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0	11.1	-11.1	1
12	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	25	14.3	10.7	1
13	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	38	27	2.6	3.7	-1.1	1
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	0	0	0	1
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	6.2	7.1	-0.9	1
16	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	11	13	0	0	0	1
17	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	6	1	0	0	0	1
18	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	5	12	0	0	0	1

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Chromosomal Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of CHD8. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.

> Lymphocyte [ TOP ]

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Chromosomal Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of CHD8. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by CHD8. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Chromosomal Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of CHD8. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor

> Chemokine [ TOP ]

> Receptor [ TOP ]

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Chromosomal Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of CHD8 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Chromosomal Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between CHD8 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Chromosomal Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting CHD8 collected from DrugBank database.

> Drugs from DrugBank database [ TOP ]
There is no record.

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