TISIDB

Summary
Symbol	WBSCR22
Name	Williams Beuren syndrome chromosome region 22
Aliases	MGC19709; MGC2022; MGC5140; PP3381; WBMT; MERM1; metastasis-related methyltransferase 1; HASJ4442; HUSSY-3; ......
Chromosomal Location	7q11.23
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 Nucleus, nucleoplasm Cytoplasm, perinuclear region Cytoplasm Note=Localized diffusely throughout the nucleus and the cytoplasm (PubMed:24488492). Localizes to a polarized perinuclear structure, overlapping partially with the Golgi and lysosomes (PubMed:25851604). Localization is not affected by glucocorticoid treatment (PubMed:24488492).
Domain	PF08241 Methyltransferase domain PF12589 Methyltransferase involved in Williams-Beuren syndrome
Function	S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (PubMed:25851604). Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity (PubMed:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity (PubMed:24086612). Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors (PubMed:24488492). Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements (PubMed:24488492). Required for maintenance of dimethylation on histone H3 'Lys-79' (H3K79me2), although direct histone methyltransferase activity is not observed in vitro (PubMed:24488492).

> Gene Ontology [ TOP ]
Biological Process	GO:0000154 rRNA modification GO:0001510 RNA methylation GO:0006364 rRNA processing GO:0009451 RNA modification GO:0016072 rRNA metabolic process GO:0022613 ribonucleoprotein complex biogenesis GO:0031167 rRNA methylation GO:0032259 methylation GO:0034470 ncRNA processing GO:0042254 ribosome biogenesis GO:0043414 macromolecule methylation
Molecular Function	GO:0008168 methyltransferase activity GO:0016741 transferase activity, transferring one-carbon groups
Cellular Component	-

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	R-HSA-74160: Gene Expression R-HSA-6790901: rRNA modification in the nucleus and cytosol R-HSA-72312: rRNA processing R-HSA-8868773: rRNA processing in the nucleus and cytosol

Summary
Symbol	WBSCR22
Name	Williams Beuren syndrome chromosome region 22
Aliases	MGC19709; MGC2022; MGC5140; PP3381; WBMT; MERM1; metastasis-related methyltransferase 1; HASJ4442; HUSSY-3; ......
Chromosomal Location	7q11.23
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between WBSCR22 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	WBSCR22
Name	Williams Beuren syndrome chromosome region 22
Aliases	MGC19709; MGC2022; MGC5140; PP3381; WBMT; MERM1; metastasis-related methyltransferase 1; HASJ4442; HUSSY-3; ......
Chromosomal Location	7q11.23
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

[ TOP ]

Statistical results of WBSCR22 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	Second most enriched score: 0.52	Sensitive to T cell-mediated killing
28723893	CRISPR-Cas9	melanoma	B16	GVAX+Anti-PD1	NA/NS	NA/NS
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	WBSCR22
Name	Williams Beuren syndrome chromosome region 22
Aliases	MGC19709; MGC2022; MGC5140; PP3381; WBMT; MERM1; metastasis-related methyltransferase 1; HASJ4442; HUSSY-3; ......
Chromosomal Location	7q11.23
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 WBSCR22 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	0.001	0.998
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	0.249	0.938
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	-0.181	0.939
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0.378	0.255
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0.267	0.883
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0.521	0.828
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	-0.054	0.892
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	-0.215	0.9
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	0.171	0.926
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	-0.247	0.899
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	-0.013	0.996
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	0.139	0.0438

> Mutation difference between responders and non-responders

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Points in the above scatter plot represent the mutation difference of WBSCR22 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	0	0	0	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	0	0	0	1
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	3.7	1.4	2.3	0.469
5	26359337	Melanoma	BRAFi	Anti-CTLA-4 (ipilimumab)	0	14	0	7.1	-7.1	1
6	26359337	Melanoma	non-BRAFi	Anti-CTLA-4 (ipilimumab)	27	59	3.7	0	3.7	0.314
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	0	0	0	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	0	0	0	1
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	11.1	0	11.1	0.36
11	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0	0	0	1
12	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	25	0	25	0.364
13	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	38	27	2.6	0	2.6	1
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	4.5	0	4.5	1
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	0	0	0	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	WBSCR22
Name	Williams Beuren syndrome chromosome region 22
Aliases	MGC19709; MGC2022; MGC5140; PP3381; WBMT; MERM1; metastasis-related methyltransferase 1; HASJ4442; HUSSY-3; ......
Chromosomal Location	7q11.23
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of WBSCR22. 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	WBSCR22
Name	Williams Beuren syndrome chromosome region 22
Aliases	MGC19709; MGC2022; MGC5140; PP3381; WBMT; MERM1; metastasis-related methyltransferase 1; HASJ4442; HUSSY-3; ......
Chromosomal Location	7q11.23
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of WBSCR22. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by WBSCR22. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	WBSCR22
Name	Williams Beuren syndrome chromosome region 22
Aliases	MGC19709; MGC2022; MGC5140; PP3381; WBMT; MERM1; metastasis-related methyltransferase 1; HASJ4442; HUSSY-3; ......
Chromosomal Location	7q11.23
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of WBSCR22. 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	WBSCR22
Name	Williams Beuren syndrome chromosome region 22
Aliases	MGC19709; MGC2022; MGC5140; PP3381; WBMT; MERM1; metastasis-related methyltransferase 1; HASJ4442; HUSSY-3; ......
Chromosomal Location	7q11.23
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of WBSCR22 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	WBSCR22
Name	Williams Beuren syndrome chromosome region 22
Aliases	MGC19709; MGC2022; MGC5140; PP3381; WBMT; MERM1; metastasis-related methyltransferase 1; HASJ4442; HUSSY-3; ......
Chromosomal Location	7q11.23
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between WBSCR22 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	WBSCR22
Name	Williams Beuren syndrome chromosome region 22
Aliases	MGC19709; MGC2022; MGC5140; PP3381; WBMT; MERM1; metastasis-related methyltransferase 1; HASJ4442; HUSSY-3; ......
Chromosomal Location	7q11.23
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting WBSCR22 collected from DrugBank database.

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

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