TISIDB

Summary
Symbol	GPHN
Name	gephyrin
Aliases	KIAA1385; GEPH; GPH; GPHRYN; MOCODC
Chromosomal Location	14q23.3
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	Cell junction, synapse Cell junction, synapse, postsynaptic cell membrane Peripheral membrane protein Cytoplasmic side Cytoplasm, cytoskeleton Cell membrane Peripheral membrane protein Cytoplasmic side Cell projection, dendrite Note=Cytoplasmic face of glycinergic postsynaptic membranes.
Domain	PF00994 Probable molybdopterin binding domain PF03454 MoeA C-terminal region (domain IV) PF03453 MoeA N-terminal region (domain I and II)
Function	Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.

> Gene Ontology [ TOP ]
Biological Process	GO:0001941 postsynaptic membrane organization GO:0006732 coenzyme metabolic process GO:0006777 Mo-molybdopterin cofactor biosynthetic process GO:0009108 coenzyme biosynthetic process GO:0009116 nucleoside metabolic process GO:0009119 ribonucleoside metabolic process GO:0009141 nucleoside triphosphate metabolic process GO:0009144 purine nucleoside triphosphate metabolic process GO:0009150 purine ribonucleotide metabolic process GO:0009199 ribonucleoside triphosphate metabolic process GO:0009205 purine ribonucleoside triphosphate metabolic process GO:0018315 molybdenum incorporation into molybdenum-molybdopterin complex GO:0019720 Mo-molybdopterin cofactor metabolic process GO:0032324 molybdopterin cofactor biosynthetic process GO:0042040 metal incorporation into metallo-molybdopterin complex GO:0042278 purine nucleoside metabolic process GO:0043113 receptor clustering GO:0043545 molybdopterin cofactor metabolic process GO:0046039 GTP metabolic process GO:0046128 purine ribonucleoside metabolic process GO:0050808 synapse organization GO:0051186 cofactor metabolic process GO:0051188 cofactor biosynthetic process GO:0051189 prosthetic group metabolic process GO:0051668 localization within membrane GO:0072578 neurotransmitter-gated ion channel clustering GO:0072579 glycine receptor clustering GO:0072657 protein localization to membrane GO:0097112 gamma-aminobutyric acid receptor clustering GO:1901068 guanosine-containing compound metabolic process GO:1901657 glycosyl compound metabolic process
Molecular Function	GO:0016779 nucleotidyltransferase activity GO:0061598 molybdopterin adenylyltransferase activity GO:0061599 molybdopterin molybdotransferase activity GO:0070566 adenylyltransferase activity
Cellular Component	GO:0030425 dendrite GO:0045211 postsynaptic membrane GO:0097060 synaptic membrane GO:0098794 postsynapse

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa04727 GABAergic synapse hsa00790 Folate biosynthesis hsa01100 Metabolic pathways
Reactome	R-HSA-1430728: Metabolism R-HSA-196854: Metabolism of vitamins and cofactors R-HSA-196849: Metabolism of water-soluble vitamins and cofactors R-HSA-947581: Molybdenum cofactor biosynthesis

Summary
Symbol	GPHN
Name	gephyrin
Aliases	KIAA1385; GEPH; GPH; GPHRYN; MOCODC
Chromosomal Location	14q23.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between GPHN 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	GPHN
Name	gephyrin
Aliases	KIAA1385; GEPH; GPH; GPHRYN; MOCODC
Chromosomal Location	14q23.3
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 GPHN 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	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	GPHN
Name	gephyrin
Aliases	KIAA1385; GEPH; GPH; GPHRYN; MOCODC
Chromosomal Location	14q23.3
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 GPHN 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	0.646	0.0159
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	0.733	0.506
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	0.584	0.473
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0.009	0.974
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	-0.113	0.948
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0.159	0.939
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.198	0.504
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	0.082	0.947
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	0.312	0.824
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	0.41	0.712
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	1.254	0.43
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	0.002	0.98

> Mutation difference between responders and non-responders

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Points in the above scatter plot represent the mutation difference of GPHN 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	18.5	8.2	10.3	0.161
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	18.5	10.2	8.3	0.31
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	0	0	0	1
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	0	0	0	1
13	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	38	27	0	7.4	-7.4	0.169
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	0	15.4	-15.4	0.131
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	7.7	-7.7	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	8.3	-8.3	1

Summary
Symbol	GPHN
Name	gephyrin
Aliases	KIAA1385; GEPH; GPH; GPHRYN; MOCODC
Chromosomal Location	14q23.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of GPHN. 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	GPHN
Name	gephyrin
Aliases	KIAA1385; GEPH; GPH; GPHRYN; MOCODC
Chromosomal Location	14q23.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of GPHN. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by GPHN. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	GPHN
Name	gephyrin
Aliases	KIAA1385; GEPH; GPH; GPHRYN; MOCODC
Chromosomal Location	14q23.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of GPHN. 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	GPHN
Name	gephyrin
Aliases	KIAA1385; GEPH; GPH; GPHRYN; MOCODC
Chromosomal Location	14q23.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of GPHN expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	GPHN
Name	gephyrin
Aliases	KIAA1385; GEPH; GPH; GPHRYN; MOCODC
Chromosomal Location	14q23.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between GPHN and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	GPHN
Name	gephyrin
Aliases	KIAA1385; GEPH; GPH; GPHRYN; MOCODC
Chromosomal Location	14q23.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting GPHN collected from DrugBank database.

> Drugs from DrugBank database

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Details on drugs targeting GPHN.

ID	Name	Drug Type	Targets	#Targets
DB01942	Formic Acid	Small Molecule	ACYP2, CA2, CASK, CTBP1, CYTH2, FGF1, GGACT, GPHN, HMOX1, NOS1, PV ......	12
DB03366	Imidazole	Small Molecule	AK2, CYCS, DMC1, GPHN, LTA4H, MB, MYO1E, NOS2, PIM1	9
DB03766	Propanoic Acid	Small Molecule	GPHN	1

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