TISIDB

Summary
Symbol	EFEMP1
Name	EGF containing fibulin-like extracellular matrix protein 1
Aliases	S1-5; FBLN3; MTLV; fibulin 3; DHRD; FBNL; fibrillin-like; EGF-containing fibulin-like extracellular matrix p ......
Chromosomal Location	2p16
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	Secreted, extracellular space Secreted, extracellular space, extracellular matrix Note=Localizes to the lamina propria underneath the olfactory epithelium.
Domain	PF12662 Complement Clr-like EGF-like PF07645 Calcium-binding EGF domain
Function	Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth.

> Gene Ontology [ TOP ]
Biological Process	GO:0001501 skeletal system development GO:0001654 eye development GO:0002062 chondrocyte differentiation GO:0007173 epidermal growth factor receptor signaling pathway GO:0007423 sensory organ development GO:0007601 visual perception GO:0009791 post-embryonic development GO:0009886 post-embryonic animal morphogenesis GO:0018108 peptidyl-tyrosine phosphorylation GO:0018212 peptidyl-tyrosine modification GO:0032330 regulation of chondrocyte differentiation GO:0032331 negative regulation of chondrocyte differentiation GO:0038127 ERBB signaling pathway GO:0043010 camera-type eye development GO:0048048 embryonic eye morphogenesis GO:0048050 post-embryonic eye morphogenesis GO:0048562 embryonic organ morphogenesis GO:0048563 post-embryonic animal organ morphogenesis GO:0048568 embryonic organ development GO:0048569 post-embryonic animal organ development GO:0048592 eye morphogenesis GO:0050953 sensory perception of light stimulus GO:0051216 cartilage development GO:0061035 regulation of cartilage development GO:0061037 negative regulation of cartilage development GO:0061448 connective tissue development GO:0090596 sensory organ morphogenesis
Molecular Function	GO:0004713 protein tyrosine kinase activity GO:0004714 transmembrane receptor protein tyrosine kinase activity GO:0005006 epidermal growth factor-activated receptor activity GO:0005154 epidermal growth factor receptor binding GO:0008083 growth factor activity GO:0019199 transmembrane receptor protein kinase activity GO:0070851 growth factor receptor binding
Cellular Component	GO:0005578 proteinaceous extracellular matrix

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	R-HSA-1566948: Elastic fibre formation R-HSA-1474244: Extracellular matrix organization R-HSA-2129379: Molecules associated with elastic fibres

Summary
Symbol	EFEMP1
Name	EGF containing fibulin-like extracellular matrix protein 1
Aliases	S1-5; FBLN3; MTLV; fibulin 3; DHRD; FBNL; fibrillin-like; EGF-containing fibulin-like extracellular matrix p ......
Chromosomal Location	2p16
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between EFEMP1 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	EFEMP1
Name	EGF containing fibulin-like extracellular matrix protein 1
Aliases	S1-5; FBLN3; MTLV; fibulin 3; DHRD; FBNL; fibrillin-like; EGF-containing fibulin-like extracellular matrix p ......
Chromosomal Location	2p16
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 EFEMP1 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	EFEMP1
Name	EGF containing fibulin-like extracellular matrix protein 1
Aliases	S1-5; FBLN3; MTLV; fibulin 3; DHRD; FBNL; fibrillin-like; EGF-containing fibulin-like extracellular matrix p ......
Chromosomal Location	2p16
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

[ TOP ]

Points in the above scatter plot represent the expression difference of EFEMP1 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	-0.665	0.236
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	-0.605	0.725
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	-0.682	0.482
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	-0.285	0.469
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	-0.676	0.743
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0.209	0.936
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.317	0.647
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	0.334	0.836
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	0.218	0.907
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	1.32	0.575
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	2.905	0.367
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	-0.656	0.0117

> Mutation difference between responders and non-responders

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Points in the above scatter plot represent the mutation difference of EFEMP1 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	0	7.1	0.452
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	0	0	0	1
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	0	5.5	-5.5	0.572
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	0	6.8	-6.8	0.304
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	4.8	11.8	-7	0.577
8	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	6	0	16.7	-16.7	0.429
9	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	13	11	7.7	9.1	-1.4	1
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	22.2	0	22.2	0.12
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	50	0	50	0.109
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	0	0	0	1
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	EFEMP1
Name	EGF containing fibulin-like extracellular matrix protein 1
Aliases	S1-5; FBLN3; MTLV; fibulin 3; DHRD; FBNL; fibrillin-like; EGF-containing fibulin-like extracellular matrix p ......
Chromosomal Location	2p16
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of EFEMP1. 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	EFEMP1
Name	EGF containing fibulin-like extracellular matrix protein 1
Aliases	S1-5; FBLN3; MTLV; fibulin 3; DHRD; FBNL; fibrillin-like; EGF-containing fibulin-like extracellular matrix p ......
Chromosomal Location	2p16
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of EFEMP1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by EFEMP1. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	EFEMP1
Name	EGF containing fibulin-like extracellular matrix protein 1
Aliases	S1-5; FBLN3; MTLV; fibulin 3; DHRD; FBNL; fibrillin-like; EGF-containing fibulin-like extracellular matrix p ......
Chromosomal Location	2p16
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of EFEMP1. 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	EFEMP1
Name	EGF containing fibulin-like extracellular matrix protein 1
Aliases	S1-5; FBLN3; MTLV; fibulin 3; DHRD; FBNL; fibrillin-like; EGF-containing fibulin-like extracellular matrix p ......
Chromosomal Location	2p16
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of EFEMP1 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	EFEMP1
Name	EGF containing fibulin-like extracellular matrix protein 1
Aliases	S1-5; FBLN3; MTLV; fibulin 3; DHRD; FBNL; fibrillin-like; EGF-containing fibulin-like extracellular matrix p ......
Chromosomal Location	2p16
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between EFEMP1 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	EFEMP1
Name	EGF containing fibulin-like extracellular matrix protein 1
Aliases	S1-5; FBLN3; MTLV; fibulin 3; DHRD; FBNL; fibrillin-like; EGF-containing fibulin-like extracellular matrix p ......
Chromosomal Location	2p16
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting EFEMP1 collected from DrugBank database.

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

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