TISIDB

Summary
Symbol	OBSCN
Name	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Aliases	KIAA1556; UNC89; KIAA1639; ARHGEF30; obscurin, myosin light chain kinase; obscurin-MLCK; Obscurin-myosin lig ......
Chromosomal Location	1q42
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	Isoform 3: Cytoplasm, myofibril, sarcomere, M line Cytoplasm, myofibril, sarcomere, Z line Note=In differentiating skeletal muscle cells, isoform 3 primarily localizes to the sarcomeric M-line and less frequently to the Z-disk (PubMed:12527750). Isoform 3 colocalizes with ANK1 isoform Mu17/ank1.5 at the M-line in differentiated skeletal muscle cells (PubMed:12527750).; SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, M line Cytoplasm, myofibril, sarcomere, Z line Cell membrane, sarcolemma Nucleus Note=Colocalizes with CDH2 and ATP1B1 to the sarcolemma and to intercalating disks in cardiac muscles. Colocalizes with ATP1B1 to M line and Z line in cardiac muscles.
Domain	PF00041 Fibronectin type III domain PF07679 Immunoglobulin I-set domain PF00612 IQ calmodulin-binding motif PF00069 Protein kinase domain PF00621 RhoGEF domain
Function	Structural component of striated muscles which plays a role in myofibrillogenesis. Probably involved in the assembly of myosin into sarcomeric A bands in striated muscle (PubMed:11448995, PubMed:16205939). Has serine/threonine protein kinase activity and phosphorylates N-cadherin CDH2 and sodium/potassium-transporting ATPase subunit ATP1B1 (By similarity).

> Gene Ontology [ TOP ]
Biological Process	GO:0007265 Ras protein signal transduction GO:0007266 Rho protein signal transduction GO:0010927 cellular component assembly involved in morphogenesis GO:0030239 myofibril assembly GO:0031032 actomyosin structure organization GO:0035023 regulation of Rho protein signal transduction GO:0036309 protein localization to M-band GO:0042692 muscle cell differentiation GO:0045214 sarcomere organization GO:0046578 regulation of Ras protein signal transduction GO:0051056 regulation of small GTPase mediated signal transduction GO:0051146 striated muscle cell differentiation GO:0055001 muscle cell development GO:0055002 striated muscle cell development
Molecular Function	GO:0004674 protein serine/threonine kinase activity GO:0005085 guanyl-nucleotide exchange factor activity GO:0005088 Ras guanyl-nucleotide exchange factor activity GO:0005089 Rho guanyl-nucleotide exchange factor activity GO:0005516 calmodulin binding GO:0008307 structural constituent of muscle GO:0030506 ankyrin binding GO:0031432 titin binding
Cellular Component	GO:0030016 myofibril GO:0030017 sarcomere GO:0030018 Z disc GO:0031430 M band GO:0031672 A band GO:0031674 I band GO:0043292 contractile fiber GO:0044449 contractile fiber part

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	R-HSA-204998: Cell death signalling via NRAGE, NRIF and NADE R-HSA-416482: G alpha (12/13) signalling events R-HSA-388396: GPCR downstream signaling R-HSA-193648: NRAGE signals death through JNK R-HSA-194840: Rho GTPase cycle R-HSA-162582: Signal Transduction R-HSA-372790: Signaling by GPCR R-HSA-194315: Signaling by Rho GTPases R-HSA-166520: Signalling by NGF R-HSA-193704: p75 NTR receptor-mediated signalling

> KEGG and Reactome Pathway

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KEGG

Reactome

R-HSA-204998: Cell death signalling via NRAGE, NRIF and NADE
R-HSA-416482: G alpha (12/13) signalling events
R-HSA-388396: GPCR downstream signaling
R-HSA-193648: NRAGE signals death through JNK
R-HSA-194840: Rho GTPase cycle
R-HSA-162582: Signal Transduction
R-HSA-372790: Signaling by GPCR
R-HSA-194315: Signaling by Rho GTPases
R-HSA-166520: Signalling by NGF
R-HSA-193704: p75 NTR receptor-mediated signalling

Summary
Symbol	OBSCN
Name	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Aliases	KIAA1556; UNC89; KIAA1639; ARHGEF30; obscurin, myosin light chain kinase; obscurin-MLCK; Obscurin-myosin lig ......
Chromosomal Location	1q42
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between OBSCN 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	OBSCN
Name	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Aliases	KIAA1556; UNC89; KIAA1639; ARHGEF30; obscurin, myosin light chain kinase; obscurin-MLCK; Obscurin-myosin lig ......
Chromosomal Location	1q42
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 OBSCN 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: 0.51	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	OBSCN
Name	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Aliases	KIAA1556; UNC89; KIAA1639; ARHGEF30; obscurin, myosin light chain kinase; obscurin-MLCK; Obscurin-myosin lig ......
Chromosomal Location	1q42
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 OBSCN 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	-0.166	0.633
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	-1.289	0.0166
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	0.642	0.223
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0.154	0.701
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0.035	0.991
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0.305	0.938
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.272	0.576
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	0.741	0.558
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	-0.153	0.906
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	0.142	0.921
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	0.214	0.91
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	-0.637	0.000109

> Mutation difference between responders and non-responders

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Points in the above scatter plot represent the mutation difference of OBSCN 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	42.9	11.8	31.1	0.0971
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	40	33.3	6.7	1
3	25765070	Non-small cell lung cancer (NSCLC)	non-smoking	Anti-PD-1 (pembrolizumab)	4	14	50	7.1	42.9	0.108
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	22.2	20.5	1.7	1
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	22.2	25.4	-3.2	1
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	42.9	35.3	7.6	0.744
8	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	6	50	33.3	16.7	0.627
9	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	13	11	38.5	36.4	2.1	1
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	33.3	18.8	14.5	0.63
11	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	20	33.3	-13.3	1
12	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	50	0	50	0.109
13	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	38	27	31.6	25.9	5.7	0.783
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	22.7	23.1	-0.4	1
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	43.8	28.6	15.2	0.466
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	OBSCN
Name	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Aliases	KIAA1556; UNC89; KIAA1639; ARHGEF30; obscurin, myosin light chain kinase; obscurin-MLCK; Obscurin-myosin lig ......
Chromosomal Location	1q42
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of OBSCN. 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	OBSCN
Name	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Aliases	KIAA1556; UNC89; KIAA1639; ARHGEF30; obscurin, myosin light chain kinase; obscurin-MLCK; Obscurin-myosin lig ......
Chromosomal Location	1q42
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of OBSCN. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by OBSCN. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	OBSCN
Name	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Aliases	KIAA1556; UNC89; KIAA1639; ARHGEF30; obscurin, myosin light chain kinase; obscurin-MLCK; Obscurin-myosin lig ......
Chromosomal Location	1q42
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of OBSCN. 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	OBSCN
Name	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Aliases	KIAA1556; UNC89; KIAA1639; ARHGEF30; obscurin, myosin light chain kinase; obscurin-MLCK; Obscurin-myosin lig ......
Chromosomal Location	1q42
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of OBSCN expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	OBSCN
Name	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Aliases	KIAA1556; UNC89; KIAA1639; ARHGEF30; obscurin, myosin light chain kinase; obscurin-MLCK; Obscurin-myosin lig ......
Chromosomal Location	1q42
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between OBSCN and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	OBSCN
Name	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Aliases	KIAA1556; UNC89; KIAA1639; ARHGEF30; obscurin, myosin light chain kinase; obscurin-MLCK; Obscurin-myosin lig ......
Chromosomal Location	1q42
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting OBSCN collected from DrugBank database.

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

Browse OBSCN