TISIDB

Summary
Symbol	NPHS1
Name	nephrosis 1, congenital, Finnish type (nephrin)
Aliases	CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location	19q12-q13.1
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 membrane Single-pass type I membrane protein Note=Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane.
Domain	PF08205 CD80-like C2-set immunoglobulin domain PF00041 Fibronectin type III domain PF07686 Immunoglobulin V-set domain
Function	Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity).

> Gene Ontology [ TOP ]
Biological Process	GO:0000768 syncytium formation by plasma membrane fusion GO:0001655 urogenital system development GO:0001822 kidney development GO:0002064 epithelial cell development GO:0006949 syncytium formation GO:0007015 actin filament organization GO:0007254 JNK cascade GO:0007517 muscle organ development GO:0007519 skeletal muscle tissue development GO:0007520 myoblast fusion GO:0007588 excretion GO:0008064 regulation of actin polymerization or depolymerization GO:0008154 actin polymerization or depolymerization GO:0014706 striated muscle tissue development GO:0014902 myotube differentiation GO:0030041 actin filament polymerization GO:0030198 extracellular matrix organization GO:0030832 regulation of actin filament length GO:0030833 regulation of actin filament polymerization GO:0030838 positive regulation of actin filament polymerization GO:0031098 stress-activated protein kinase signaling cascade GO:0031334 positive regulation of protein complex assembly GO:0032271 regulation of protein polymerization GO:0032273 positive regulation of protein polymerization GO:0032535 regulation of cellular component size GO:0032835 glomerulus development GO:0032836 glomerular basement membrane development GO:0032956 regulation of actin cytoskeleton organization GO:0032970 regulation of actin filament-based process GO:0035418 protein localization to synapse GO:0035850 epithelial cell differentiation involved in kidney development GO:0042692 muscle cell differentiation GO:0043062 extracellular structure organization GO:0043254 regulation of protein complex assembly GO:0044057 regulation of system process GO:0044062 regulation of excretion GO:0044089 positive regulation of cellular component biogenesis GO:0051146 striated muscle cell differentiation GO:0051258 protein polymerization GO:0051403 stress-activated MAPK cascade GO:0051493 regulation of cytoskeleton organization GO:0051495 positive regulation of cytoskeleton organization GO:0060537 muscle tissue development GO:0060538 skeletal muscle organ development GO:0061005 cell differentiation involved in kidney development GO:0061318 renal filtration cell differentiation GO:0072001 renal system development GO:0072006 nephron development GO:0072009 nephron epithelium development GO:0072010 glomerular epithelium development GO:0072015 glomerular visceral epithelial cell development GO:0072073 kidney epithelium development GO:0072112 glomerular visceral epithelial cell differentiation GO:0072310 glomerular epithelial cell development GO:0072311 glomerular epithelial cell differentiation GO:0090066 regulation of anatomical structure size
Molecular Function	GO:0017022 myosin binding
Cellular Component	GO:0036056 filtration diaphragm GO:0036057 slit diaphragm

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	R-HSA-1500931: Cell-Cell communication R-HSA-373753: Nephrin interactions

Summary
Symbol	NPHS1
Name	nephrosis 1, congenital, Finnish type (nephrin)
Aliases	CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location	19q12-q13.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between NPHS1 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	NPHS1
Name	nephrosis 1, congenital, Finnish type (nephrin)
Aliases	CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location	19q12-q13.1
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 NPHS1 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	NPHS1
Name	nephrosis 1, congenital, Finnish type (nephrin)
Aliases	CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location	19q12-q13.1
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 NPHS1 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	0.169	0.583
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	0.543	0.416
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	-0.112	0.815
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0.594	0.567
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0.158	0.921
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	1.136	0.522
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.484	0.54
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	1.291	0.405
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	-0.253	0.891
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	-0.217	0.79
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	-0.783	0.456
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	-0.808	0.029

> Mutation difference between responders and non-responders

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Points in the above scatter plot represent the mutation difference of NPHS1 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	14.3	0	14.3	0.196
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	10	0	10	1
3	25765070	Non-small cell lung cancer (NSCLC)	non-smoking	Anti-PD-1 (pembrolizumab)	4	14	25	0	25	0.222
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	11.1	1.4	9.7	0.0589
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	1.7	9.4	0.0895
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	14.3	0	14.3	0.238
8	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	6	12.5	0	12.5	1
9	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	13	11	15.4	0	15.4	0.482
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	11.1	6.2	4.9	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	0	25	0.364
13	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	38	27	7.9	0	7.9	0.26
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	9.1	0	9.1	0.519
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	6.2	0	6.2	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	NPHS1
Name	nephrosis 1, congenital, Finnish type (nephrin)
Aliases	CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location	19q12-q13.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of NPHS1. 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	NPHS1
Name	nephrosis 1, congenital, Finnish type (nephrin)
Aliases	CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location	19q12-q13.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of NPHS1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by NPHS1. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	NPHS1
Name	nephrosis 1, congenital, Finnish type (nephrin)
Aliases	CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location	19q12-q13.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of NPHS1. 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	NPHS1
Name	nephrosis 1, congenital, Finnish type (nephrin)
Aliases	CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location	19q12-q13.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of NPHS1 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	NPHS1
Name	nephrosis 1, congenital, Finnish type (nephrin)
Aliases	CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location	19q12-q13.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between NPHS1 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	NPHS1
Name	nephrosis 1, congenital, Finnish type (nephrin)
Aliases	CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location	19q12-q13.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting NPHS1 collected from DrugBank database.

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

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