TissGeneSummary for PHOX2A |
Gene summary |
Basic gene information | Gene symbol | PHOX2A |
Gene name | paired-like homeobox 2a | |
Synonyms | ARIX|CFEOM2|FEOM2|NCAM2|PMX2A | |
Cytomap | UCSC genome browser: 11q13.2 | |
Type of gene | protein-coding | |
RefGenes | NM_005169.3, | |
Description | ARIX1 homeodomain proteinaristaless homeobox homologaristaless homeobox protein homologarix homeodomain proteinpaired mesoderm homeobox protein 2A | |
Modification date | 20141219 | |
dbXrefs | MIM : 602753 | |
HGNC : HGNC | ||
Ensembl : ENSG00000165462 | ||
HPRD : 04129 | ||
Vega : OTTHUMG00000167899 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PHOX2A | |
BioGPS: 401 | ||
Pathway | NCI Pathway Interaction Database: PHOX2A | |
KEGG: PHOX2A | ||
REACTOME: PHOX2A | ||
Pathway Commons: PHOX2A | ||
Context | iHOP: PHOX2A | |
ligand binding site mutation search in PubMed: PHOX2A | ||
UCL Cancer Institute: PHOX2A | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | HPA,TiGER | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | BrainAdrenal gland | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | GBM,LGGPCPG,ACC | |
Reference showing the relevant tissue of PHOX2A | ||
Description by TissGene annotations | Protective TissGene in OS Protective TissGene in RFS Cancer gene TissgsKTS CNV lost TissGeneKTS |
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO term | PubMed ID | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 16280598 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 16280598 |
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TissGeneExp for PHOX2A |
Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
COAD | -1.204143078 | 1.728018461 | -2.932161538 | 6.90E-15 | 3.60E-13 |
STAD | -1.312389472 | 0.885510528 | -2.1979 | 0.000317 | 0.002078522 |
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TissGene-miRNA for PHOX2A |
Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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TissGeneMut for PHOX2A |
TissGeneSNV for PHOX2A |
nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.R88H | LUAD | 1 |
p.P74T | COAD | 1 |
p.A100V | COAD | 1 |
p.A124V | UCEC | 1 |
p.A245T | THCA | 1 |
p.K252R | STAD | 1 |
p.E131K | LUSC | 1 |
p.A100T | STAD | 1 |
p.L279M | HNSC | 1 |
p.A100T | HNSC | 1 |
p.A124V | THYM | 1 |
p.V13M | READ | 1 |
p.G31S | UCS | 1 |
p.P115S | SKCM | 1 |
p.V136I | ACC | 1 |
p.A110T | STAD | 1 |
p.G246E | SKCM | 1 |
p.R133H | STAD | 1 |
p.R91P | LUAD | 1 |
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TissGeneCNV for PHOX2A |
Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for PHOX2A |
Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
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TissGeneNet for PHOX2A |
Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for PHOX2A |
Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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TissGeneClin for PHOX2A |
TissGeneDrug for PHOX2A |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for PHOX2A |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C1302995 | Congenital Fibrosis of the Extraocular Muscles | 11 | BeFree |
umls:C0000768 | Congenital Abnormality | 2 | BeFree |
umls:C0015310 | Exotropia | 2 | BeFree |
umls:C0027819 | Neuroblastoma | 2 | BeFree |
umls:C0038379 | Strabismus | 2 | BeFree |
umls:C0700095 | Central neuroblastoma | 2 | BeFree |
umls:C1865915 | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 | 2 | BeFree,CLINVAR,CTD_human,UNIPROT |
umls:C0005745 | Blepharoptosis | 1 | BeFree |
umls:C0013080 | Down Syndrome | 1 | BeFree |
umls:C0014544 | Epilepsy | 1 | LHGDN |
umls:C0015644 | Muscular fasciculation | 1 | BeFree |
umls:C0016059 | Fibrosis | 1 | LHGDN |
umls:C0020538 | Hypertensive disease | 1 | LHGDN |
umls:C0033377 | Ptosis | 1 | BeFree |
umls:C1136249 | Mental Retardation, X-Linked | 1 | LHGDN |
umls:C1535926 | Neurodevelopmental Disorders | 1 | BeFree |
umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 0 | MGD |