Browse DFNA5

Summary
SymbolDFNA5
Namedeafness, autosomal dominant 5
Aliases ICERE-1; inversely correlated with estrogen receptor expression 1; nonsyndromic hearing impairment protein; ......
Chromosomal Location7p15
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
 
Subcellular Location Gasdermin-E, N-terminal: Cell membrane ; SUBCELLULAR LOCATION: Gasdermin-E: Cytoplasm, cytosol
Domain PF04598 Gasdermin family
Function

Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53 (PubMed:16897187, PubMed:18223688). ; FUNCTION: Gasdermin-E, N-terminal: Switches CASP3-mediated apoptosis induced by TNF or danger signals, such as chemotherapy drugs, to pyroptosis (PubMed:28459430, PubMed:27281216). Produced by the cleavage of GSDME by CASP3, perforates cell membrane and thereby induces pyroptosis. After cleavage, moves to the plasma membrane where it strongly binds to inner leaflet lipids, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate (PubMed:28459430). Mediates secondary necrosis downstream of the mitochondrial apoptotic pathway and CASP3 activation as well as in response to viral agents (PubMed:28045099). Exhibits bactericidal activity (PubMed:27281216).

> Gene Ontology
 
Biological Process GO:0007423 sensory organ development
GO:0007605 sensory perception of sound
GO:0042490 mechanoreceptor differentiation
GO:0043583 ear development
GO:0048839 inner ear development
GO:0050954 sensory perception of mechanical stimulus
GO:0060113 inner ear receptor cell differentiation
GO:0097193 intrinsic apoptotic signaling pathway
GO:2001233 regulation of apoptotic signaling pathway
GO:2001235 positive regulation of apoptotic signaling pathway
GO:2001242 regulation of intrinsic apoptotic signaling pathway
GO:2001244 positive regulation of intrinsic apoptotic signaling pathway
Molecular Function -
Cellular Component -
> KEGG and Reactome Pathway
 
KEGG -
Reactome -
Summary
SymbolDFNA5
Namedeafness, autosomal dominant 5
Aliases ICERE-1; inversely correlated with estrogen receptor expression 1; nonsyndromic hearing impairment protein; ......
Chromosomal Location7p15
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between DFNA5 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
 

There is no record.

Summary
SymbolDFNA5
Namedeafness, autosomal dominant 5
Aliases ICERE-1; inversely correlated with estrogen receptor expression 1; nonsyndromic hearing impairment protein; ......
Chromosomal Location7p15
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
  Statistical results of DFNA5 in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NSNA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NSNA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NSNA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NSNA/NS
24476824shRNAmelanomaB16Primary screen NA/NSNA/NS
24476824shRNAmelanomaB16Secondary screen NA/NSNA/NS
Summary
SymbolDFNA5
Namedeafness, autosomal dominant 5
Aliases ICERE-1; inversely correlated with estrogen receptor expression 1; nonsyndromic hearing impairment protein; ......
Chromosomal Location7p15
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
 
Points in the above scatter plot represent the expression difference of DFNA5 in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)1412-0.5160.417
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)650.0940.953
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-0.9740.485
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 916-0.1150.722
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590.2270.89
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47-0.5530.769
729033130MelanomaallAnti-PD-1 (nivolumab) 2623-0.4160.44
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 15110.110.939
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 1112-0.8580.537
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 480.1940.893
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 280.4190.849
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 68230-0.590.000479
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of DFNA5 in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 14170001
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 1030001
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 27737.42.74.70.294
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 27597.43.440.587
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)21170001
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)860001
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)13110001
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 91606.2-6.21
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59011.1-11.11
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470001
1329033130MelanomaallAnti-PD-1 (nivolumab) 38277.907.90.26
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 221313.6013.60.279
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16140001
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 111307.7-7.71
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 51208.3-8.31
Summary
SymbolDFNA5
Namedeafness, autosomal dominant 5
Aliases ICERE-1; inversely correlated with estrogen receptor expression 1; nonsyndromic hearing impairment protein; ......
Chromosomal Location7p15
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of DFNA5. 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
 
Summary
SymbolDFNA5
Namedeafness, autosomal dominant 5
Aliases ICERE-1; inversely correlated with estrogen receptor expression 1; nonsyndromic hearing impairment protein; ......
Chromosomal Location7p15
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of DFNA5. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by DFNA5.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolDFNA5
Namedeafness, autosomal dominant 5
Aliases ICERE-1; inversely correlated with estrogen receptor expression 1; nonsyndromic hearing impairment protein; ......
Chromosomal Location7p15
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of DFNA5. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolDFNA5
Namedeafness, autosomal dominant 5
Aliases ICERE-1; inversely correlated with estrogen receptor expression 1; nonsyndromic hearing impairment protein; ......
Chromosomal Location7p15
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of DFNA5 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolDFNA5
Namedeafness, autosomal dominant 5
Aliases ICERE-1; inversely correlated with estrogen receptor expression 1; nonsyndromic hearing impairment protein; ......
Chromosomal Location7p15
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between DFNA5 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolDFNA5
Namedeafness, autosomal dominant 5
Aliases ICERE-1; inversely correlated with estrogen receptor expression 1; nonsyndromic hearing impairment protein; ......
Chromosomal Location7p15
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting DFNA5 collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.