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Browse SETX

Summary
SymbolSETX
Namesenataxin
Aliases KIAA0625; AOA2; ALS4; amyotrophic lateral sclerosis 4; spinocerebellar ataxia, recessive, non-Friedreich typ ......
Chromosomal Location9q34
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 Nucleus Nucleus, nucleoplasm Nucleus, nucleolus Cytoplasm Chromosome Chromosome, telomere Cell projection, axon Cell projection, growth cone Note=May be detected in the nucleolus only in cycling cells. At pachytene stage, colocalizes predominantly to the heterochromatic XY-body of sex chromosomes with DNA damage response proteins in a BRCA1-dependent manner (By similarity). Localizes with telomeric DNA in a transcription-dependent manner (PubMed:21112256). Under replication stress, colocalizes with a variety of DNA damage signaling and repair response proteins at distinct nuclear foci in mitotic S/G2- and G1-phase cells in a transcription- and RNA/DNA hybrid-dependent manner (PubMed:23149945). Localizes at limited number of nuclear foci (PubMed:24105744). Colocalizes with EXOSC9 in nuclear foci upon induction of transcription-related DNA damage at the S phase (PubMed:24105744). Most abundant in the nucleus. Detected in granules. Colocalized in cycling cells with FBL in the nucleolus.
Domain -
Function

Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription (PubMed:19515850, PubMed:21700224). Contributes to the mRNA splicing efficiency and splice site selection (PubMed:19515850). Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination (PubMed:19515850, PubMed:21700224, PubMed:26700805). Required for the 3' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress (PubMed:17562789). In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage (PubMed:24105744). Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription (PubMed:21112256). Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis (PubMed:21576111).

> Gene Ontology
 
Biological Process GO:0000245 spliceosomal complex assembly
GO:0000302 response to reactive oxygen species
GO:0000375 RNA splicing, via transesterification reactions
GO:0000377 RNA splicing, via transesterification reactions with bulged adenosine as nucleophile
GO:0000398 mRNA splicing, via spliceosome
GO:0001101 response to acid chemical
GO:0006302 double-strand break repair
GO:0006310 DNA recombination
GO:0006352 DNA-templated transcription, initiation
GO:0006353 DNA-templated transcription, termination
GO:0006369 termination of RNA polymerase II transcription
GO:0006376 mRNA splice site selection
GO:0006397 mRNA processing
GO:0006979 response to oxidative stress
GO:0007283 spermatogenesis
GO:0007623 circadian rhythm
GO:0008380 RNA splicing
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0010035 response to inorganic substance
GO:0010720 positive regulation of cell development
GO:0010975 regulation of neuron projection development
GO:0010976 positive regulation of neuron projection development
GO:0022613 ribonucleoprotein complex biogenesis
GO:0022618 ribonucleoprotein complex assembly
GO:0030846 termination of RNA polymerase II transcription, poly(A)-coupled
GO:0031334 positive regulation of protein complex assembly
GO:0031346 positive regulation of cell projection organization
GO:0031554 regulation of DNA-templated transcription, termination
GO:0032392 DNA geometric change
GO:0032508 DNA duplex unwinding
GO:0032526 response to retinoic acid
GO:0032984 macromolecular complex disassembly
GO:0033120 positive regulation of RNA splicing
GO:0034599 cellular response to oxidative stress
GO:0034614 cellular response to reactive oxygen species
GO:0042542 response to hydrogen peroxide
GO:0043241 protein complex disassembly
GO:0043243 positive regulation of protein complex disassembly
GO:0043244 regulation of protein complex disassembly
GO:0043254 regulation of protein complex assembly
GO:0043484 regulation of RNA splicing
GO:0043491 protein kinase B signaling
GO:0044089 positive regulation of cellular component biogenesis
GO:0044344 cellular response to fibroblast growth factor stimulus
GO:0045666 positive regulation of neuron differentiation
GO:0048232 male gamete generation
GO:0048511 rhythmic process
GO:0050769 positive regulation of neurogenesis
GO:0051962 positive regulation of nervous system development
GO:0060566 positive regulation of DNA-templated transcription, termination
GO:0070301 cellular response to hydrogen peroxide
GO:0071103 DNA conformation change
GO:0071229 cellular response to acid chemical
GO:0071300 cellular response to retinoic acid
GO:0071396 cellular response to lipid
GO:0071774 response to fibroblast growth factor
GO:0071826 ribonucleoprotein complex subunit organization
GO:1904594 regulation of termination of RNA polymerase II transcription
GO:1904595 positive regulation of termination of RNA polymerase II transcription
GO:2000142 regulation of DNA-templated transcription, initiation
GO:2000144 positive regulation of DNA-templated transcription, initiation
GO:2000804 regulation of termination of RNA polymerase II transcription, poly(A)-coupled
GO:2000806 positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled
Molecular Function GO:0001147 transcription termination site sequence-specific DNA binding
GO:0001160 transcription termination site DNA binding
GO:0003678 DNA helicase activity
GO:0004386 helicase activity
Cellular Component GO:0000781 chromosome, telomeric region
GO:0030424 axon
GO:0030426 growth cone
GO:0030427 site of polarized growth
GO:0098687 chromosomal region
> KEGG and Reactome Pathway
 
KEGG -
Reactome -
Summary
SymbolSETX
Namesenataxin
Aliases KIAA0625; AOA2; ALS4; amyotrophic lateral sclerosis 4; spinocerebellar ataxia, recessive, non-Friedreich typ ......
Chromosomal Location9q34
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between SETX 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
SymbolSETX
Namesenataxin
Aliases KIAA0625; AOA2; ALS4; amyotrophic lateral sclerosis 4; spinocerebellar ataxia, recessive, non-Friedreich typ ......
Chromosomal Location9q34
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 SETX 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
SymbolSETX
Namesenataxin
Aliases KIAA0625; AOA2; ALS4; amyotrophic lateral sclerosis 4; spinocerebellar ataxia, recessive, non-Friedreich typ ......
Chromosomal Location9q34
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 SETX in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)14120.0180.948
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)650.2920.836
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-0.1840.865
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160.0920.796
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59-0.3040.91
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470.5990.869
729033130MelanomaallAnti-PD-1 (nivolumab) 26230.4050.329
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 15110.4180.827
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 11120.4130.845
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 480.8840.515
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 281.3090.513
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 68230-0.0460.438
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of SETX 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) 141705.9-5.91
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 1030001
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 41407.1-7.11
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 277318.54.114.40.0315
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 275918.55.113.40.102
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)21179.509.50.492
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)8612.5012.51
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)13117.707.71
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 91611.1011.10.36
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590001
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47250250.364
1329033130MelanomaallAnti-PD-1 (nivolumab) 38270001
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22130001
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16140001
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11130001
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolSETX
Namesenataxin
Aliases KIAA0625; AOA2; ALS4; amyotrophic lateral sclerosis 4; spinocerebellar ataxia, recessive, non-Friedreich typ ......
Chromosomal Location9q34
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of SETX. 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
SymbolSETX
Namesenataxin
Aliases KIAA0625; AOA2; ALS4; amyotrophic lateral sclerosis 4; spinocerebellar ataxia, recessive, non-Friedreich typ ......
Chromosomal Location9q34
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of SETX. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by SETX.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolSETX
Namesenataxin
Aliases KIAA0625; AOA2; ALS4; amyotrophic lateral sclerosis 4; spinocerebellar ataxia, recessive, non-Friedreich typ ......
Chromosomal Location9q34
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of SETX. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolSETX
Namesenataxin
Aliases KIAA0625; AOA2; ALS4; amyotrophic lateral sclerosis 4; spinocerebellar ataxia, recessive, non-Friedreich typ ......
Chromosomal Location9q34
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of SETX expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolSETX
Namesenataxin
Aliases KIAA0625; AOA2; ALS4; amyotrophic lateral sclerosis 4; spinocerebellar ataxia, recessive, non-Friedreich typ ......
Chromosomal Location9q34
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between SETX and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolSETX
Namesenataxin
Aliases KIAA0625; AOA2; ALS4; amyotrophic lateral sclerosis 4; spinocerebellar ataxia, recessive, non-Friedreich typ ......
Chromosomal Location9q34
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting SETX collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.