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Browse PAX1

Summary
SymbolPAX1
Namepaired box 1
Aliases paired box gene 1; HUP48; paired domain gene HuP48; Paired box protein Pax-1
Chromosomal Location20p11.22
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.
Domain PF00292 'Paired box' domain
Function

This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity).

> Gene Ontology
 
Biological Process GO:0001501 skeletal system development
GO:0001756 somitogenesis
GO:0002521 leukocyte differentiation
GO:0003002 regionalization
GO:0007159 leukocyte cell-cell adhesion
GO:0007389 pattern specification process
GO:0009952 anterior/posterior pattern specification
GO:0030098 lymphocyte differentiation
GO:0030217 T cell differentiation
GO:0035270 endocrine system development
GO:0035282 segmentation
GO:0035710 CD4-positive, alpha-beta T cell activation
GO:0036037 CD8-positive, alpha-beta T cell activation
GO:0042110 T cell activation
GO:0043367 CD4-positive, alpha-beta T cell differentiation
GO:0043374 CD8-positive, alpha-beta T cell differentiation
GO:0046631 alpha-beta T cell activation
GO:0046632 alpha-beta T cell differentiation
GO:0048538 thymus development
GO:0048705 skeletal system morphogenesis
GO:0048732 gland development
GO:0060017 parathyroid gland development
GO:0060348 bone development
GO:0060349 bone morphogenesis
GO:0060485 mesenchyme development
GO:0061053 somite development
GO:0061056 sclerotome development
GO:0070486 leukocyte aggregation
GO:0070489 T cell aggregation
GO:0071593 lymphocyte aggregation
Molecular Function -
Cellular Component -
> KEGG and Reactome Pathway
 
KEGG -
Reactome -
Summary
SymbolPAX1
Namepaired box 1
Aliases paired box gene 1; HUP48; paired domain gene HuP48; Paired box protein Pax-1
Chromosomal Location20p11.22
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between PAX1 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
 
  Literatures describing the relation between PAX1 and anti-tumor immunity in human cancer.
PMID Cancer type Relation to immunity Evidence sentences
16452243Alveolar RhabdomyosarcomaPromote immunity (T cell function); essential for immunotherapyIdentification and epitope enhancement of a PAX-FKHR fusion protein breakpoint epitope in alveolar rhabdomyosarcoma cells created by a tumorigenic chromosomal translocation inducing CTL capable of lysing human tumors.
Summary
SymbolPAX1
Namepaired box 1
Aliases paired box gene 1; HUP48; paired domain gene HuP48; Paired box protein Pax-1
Chromosomal Location20p11.22
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 PAX1 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
SymbolPAX1
Namepaired box 1
Aliases paired box gene 1; HUP48; paired domain gene HuP48; Paired box protein Pax-1
Chromosomal Location20p11.22
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 PAX1 in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)141201
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)6501
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)8701
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 916-0.9820.104
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59-1.4680.135
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47-0.3740.741
729033130MelanomaallAnti-PD-1 (nivolumab) 262301
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 151101
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 111201
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 48-0.0610.885
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 28-0.0610.923
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 682300.1470.571
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of PAX1 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) 14177.107.10.452
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 103100101
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 27733.72.711
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 27593.73.40.31
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)211705.9-5.90.447
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)860001
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)131109.1-9.10.458
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 91611.16.24.91
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590001
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 472514.310.71
1329033130MelanomaallAnti-PD-1 (nivolumab) 38272.63.7-1.11
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22134.57.7-3.21
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
SymbolPAX1
Namepaired box 1
Aliases paired box gene 1; HUP48; paired domain gene HuP48; Paired box protein Pax-1
Chromosomal Location20p11.22
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of PAX1. 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
SymbolPAX1
Namepaired box 1
Aliases paired box gene 1; HUP48; paired domain gene HuP48; Paired box protein Pax-1
Chromosomal Location20p11.22
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of PAX1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by PAX1.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolPAX1
Namepaired box 1
Aliases paired box gene 1; HUP48; paired domain gene HuP48; Paired box protein Pax-1
Chromosomal Location20p11.22
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of PAX1. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolPAX1
Namepaired box 1
Aliases paired box gene 1; HUP48; paired domain gene HuP48; Paired box protein Pax-1
Chromosomal Location20p11.22
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of PAX1 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolPAX1
Namepaired box 1
Aliases paired box gene 1; HUP48; paired domain gene HuP48; Paired box protein Pax-1
Chromosomal Location20p11.22
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between PAX1 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolPAX1
Namepaired box 1
Aliases paired box gene 1; HUP48; paired domain gene HuP48; Paired box protein Pax-1
Chromosomal Location20p11.22
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting PAX1 collected from DrugBank database.
> Drugs from DrugBank database
 

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