 |
| |
| |
| |
| |
| |
| |
|
| TissGeneSummary for PHOX2B |
 Gene summary |
| Basic gene information | Gene symbol | PHOX2B |
| Gene name | paired-like homeobox 2b | |
| Synonyms | NBLST2|NBPhox|PMX2B | |
| Cytomap | UCSC genome browser: 4p12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003924.3, | |
| Description | PHOX2B homeodomain proteinneuroblastoma Phoxneuroblastoma paired-type homeobox proteinpaired mesoderm homeobox 2bpaired mesoderm homeobox protein 2B | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 603851 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000109132 | ||
| HPRD : 09157 | ||
| Vega : OTTHUMG00000099379 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PHOX2B | |
| BioGPS: 8929 | ||
| Pathway | NCI Pathway Interaction Database: PHOX2B | |
| KEGG: PHOX2B | ||
| REACTOME: PHOX2B | ||
| Pathway Commons: PHOX2B | ||
| Context | iHOP: PHOX2B | |
| ligand binding site mutation search in PubMed: PHOX2B | ||
| UCL Cancer Institute: PHOX2B | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | HPA,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | ColonAdrenal gland | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | COADPCPG,ACC | |
| Reference showing the relevant tissue of PHOX2B | ||
| Description by TissGene annotations | Risk TissGene in OS Protective TissGene in RFS Cancer gene Significant down-regulated DEG 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 | 16144830 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 16144830 |
| Top |
| TissGeneExp for PHOX2B |
| 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 | -1.035719716 | 3.112703361 | -4.148423077 | 5.79E-15 | 3.25E-13 |
| STAD | -1.424307937 | 0.629123313 | -2.05343125 | 0.000449 | 0.002789506 |
| Top |
| TissGene-miRNA for PHOX2B |
| 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 |
| Top |
| TissGeneMut for PHOX2B |
| TissGeneSNV for PHOX2B |
| 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.K305* | SKCM | 1 |
| p.R141Q | UCEC | 1 |
| p.G199V | COAD | 1 |
| p.S7Y | OV | 1 |
| p.R158H | COAD | 1 |
| p.E15G | LIHC | 1 |
| p.S8Y | UCEC | 1 |
| p.T106S | HNSC | 1 |
| p.R108K | BRCA | 1 |
| p.G222R | SKCM | 1 |
| p.R300T | LUAD | 1 |
| p.P220L | SKCM | 1 |
| p.G91D | LUAD | 1 |
| p.P220S | SKCM | 1 |
| p.F42L | UCEC | 1 |
| p.E130K | SKCM | 1 |
| p.D193N | SKCM | 1 |
| p.R154H | GBM | 1 |
| p.L137P | UCEC | 1 |
| p.A210V | BLCA | 1 |
| p.H73L | LUAD | 1 |
| p.M21I | SKCM | 1 |
| p.A167T | STAD | 1 |
| p.T127P | ACC | 1 |
| p.P206H | BLCA | 1 |
| p.P200S | DLBC | 1 |
| p.Y6C | LGG | 1 |
| p.S297L | DLBC | 1 |
| p.A39T | LIHC | 1 |
| p.A292T | LUAD | 1 |
| p.D182A | STAD | 1 |
| p.G288R | SKCM | 1 |
| p.A163T | UCEC | 1 |
| p.N10D | UCEC | 1 |
| p.D136N | BRCA | 1 |
| p.A266S | SKCM | 1 |
| p.P290S | SKCM | 1 |
| p.A210V | PRAD | 1 |
| p.A266T | LUAD | 1 |
| p.R180M | ESCA | 1 |
| p.P82S | SKCM | 1 |
| p.C208* | STAD | 1 |
| p.N302S | THYM | 1 |
| p.P46Q | LUAD | 1 |
| p.A210V | STAD | 1 |
| p.S75C | LUSC | 1 |
| p.D88Y | ESCA | 1 |
| p.M4R | HNSC | 1 |
| p.P277S | SKCM | 1 |
| p.A108S | STAD | 1 |
| p.E112Q | OV | 1 |
| p.N302K | HNSC | 1 |
| p.K134N | LUAD | 1 |
| Top |
| TissGeneCNV for PHOX2B |
| 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) |
 |
| Top |
| TissGeneFusions for PHOX2B |
| 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 |
| Top |
| TissGeneNet for PHOX2B |
| 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) |
| BRCA (tumor) | BRCA (normal) |
| PHOX2B, PHOX2A, SCG2 (tumor) | PHOX2B, PHOX2A, SCG2 (normal) |
 |  |
| COAD (tumor) | COAD (normal) |
| PHOX2B, PHOX2A, SCG2 (tumor) | PHOX2B, PHOX2A, SCG2 (normal) |
 |  |
| HNSC (tumor) | HNSC (normal) |
| PHOX2B, PHOX2A, SCG2 (tumor) | PHOX2B, PHOX2A, SCG2 (normal) |
 |  |
| KICH (tumor) | KICH (normal) |
| PHOX2B, PHOX2A, SCG2 (tumor) | PHOX2B, PHOX2A, SCG2 (normal) |
 |  |
| KIRC (tumor) | KIRC (normal) |
| PHOX2B, PHOX2A, SCG2 (tumor) | PHOX2B, PHOX2A, SCG2 (normal) |
 |  |
| KIRP (tumor) | KIRP (normal) |
| PHOX2B, PHOX2A, SCG2 (tumor) | PHOX2B, PHOX2A, SCG2 (normal) |
 |  |
| LIHC (tumor) | LIHC (normal) |
| PHOX2B, PHOX2A, SCG2 (tumor) | PHOX2B, PHOX2A, SCG2 (normal) |
 |  |
| LUAD (tumor) | LUAD (normal) |
| PHOX2B, PHOX2A, SCG2 (tumor) | PHOX2B, PHOX2A, SCG2 (normal) |
 |  |
| LUSC (tumor) | LUSC (normal) |
| PHOX2B, PHOX2A, SCG2 (tumor) | PHOX2B, PHOX2A, SCG2 (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| PHOX2B, PHOX2A, SCG2 (tumor) | PHOX2B, PHOX2A, SCG2 (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| PHOX2B, PHOX2A, SCG2 (tumor) | PHOX2B, PHOX2A, SCG2 (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| PHOX2B, PHOX2A, SCG2 (tumor) | PHOX2B, PHOX2A, SCG2 (normal) |
 |  |
| Top |
| TissGeneProg for PHOX2B |
| 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. |
 |
| Top |
| TissGeneClin for PHOX2B |
| TissGeneDrug for PHOX2B |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Top |
| TissGeneDisease for PHOX2B |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C1275808 | Congenital central hypoventilation | 84 | BeFree,CTD_human,GAD,MGD,ORPHANET,UNIPROT |
| umls:C0027819 | Neuroblastoma | 38 | BeFree,CTD_human,GAD,LHGDN,ORPHANET |
| umls:C0700095 | Central neuroblastoma | 35 | BeFree |
| umls:C0019569 | Hirschsprung Disease | 18 | BeFree,CTD_human,GAD,LHGDN |
| umls:C2931876 | Hirschsprung disease 1 | 14 | BeFree |
| umls:C3203358 | Hypoventilation | 10 | GAD,LHGDN |
| umls:C0020440 | Hypercapnia | 7 | BeFree |
| umls:C0010346 | Crohn Disease | 6 | BeFree,CTD_human,GAD |
| umls:C0745186 | hypoventilation syndrome | 6 | BeFree |
| umls:C1145628 | Autonomic nervous system disorders | 5 | BeFree,GAD |
| umls:C0242596 | Neoplasm, Residual | 4 | BeFree |
| umls:C1859049 | CCHS WITH HIRSCHSPRUNG DISEASE | 4 | BeFree,CLINVAR |
| umls:C0036341 | Schizophrenia | 3 | BeFree |
| umls:C0520680 | Sleep Apnea, Central | 3 | BeFree,GAD |
| umls:C1258666 | Myxoid cyst | 3 | BeFree |
| umls:C0020875 | Ileal Diseases | 2 | BeFree,GAD |
| umls:C0021390 | Inflammatory Bowel Diseases | 2 | BeFree,GAD |
| umls:C0031511 | Pheochromocytoma | 2 | BeFree |
| umls:C0038379 | Strabismus | 2 | BeFree |
| umls:C0038644 | Sudden infant death syndrome | 2 | BeFree,LHGDN |
| umls:C0085648 | Synovial Cyst | 2 | BeFree |
| umls:C1840451 | MULTICYSTIC RENAL DYSPLASIA, BILATERAL | 2 | BeFree |
| umls:C0000768 | Congenital Abnormality | 1 | BeFree |
| umls:C0003811 | Cardiac Arrhythmia | 1 | GAD |
| umls:C0009324 | Ulcerative Colitis | 1 | GAD |
| umls:C0009806 | Constipation | 1 | BeFree |
| umls:C0011071 | Sudden death | 1 | GAD |
| umls:C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | GAD |
| umls:C0013363 | Dysautonomia | 1 | BeFree |
| umls:C0014544 | Epilepsy | 1 | BeFree |
| umls:C0015310 | Exotropia | 1 | BeFree |
| umls:C0018273 | Growth Disorders | 1 | GAD |
| umls:C0020681 | Sleep-related respiratory failure | 1 | BeFree |
| umls:C0026961 | Mydriasis | 1 | BeFree |
| umls:C0030567 | Parkinson Disease | 1 | GAD |
| umls:C0035204 | Respiration Disorders | 1 | BeFree |
| umls:C0035242 | Respiratory Tract Diseases | 1 | BeFree |
| umls:C0151514 | Atrophic condition of skin | 1 | BeFree |
| umls:C0153633 | Malignant neoplasm of brain | 1 | GAD |
| umls:C0178874 | Tumor Progression | 1 | BeFree |
| umls:C0206718 | Ganglioneuroblastoma | 1 | BeFree |
| umls:C0264492 | Chronic respiratory failure | 1 | BeFree |
| umls:C0270814 | Spastic syndrome | 1 | BeFree |
| umls:C0398353 | Hypercapnic respiratory failure | 1 | GAD |
| umls:C0520679 | Sleep Apnea, Obstructive | 1 | GAD |
| umls:C0596263 | Carcinogenesis | 1 | BeFree |
| umls:C1260922 | Abnormal breathing | 1 | BeFree |
| umls:C1519787 | Undifferentiated Neuroblastoma | 1 | BeFree |
| umls:C1845055 | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED | 1 | BeFree |
| umls:C1856113 | Mowat-Wilson syndrome | 1 | BeFree |
| umls:C2751682 | NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 | 0 | CLINVAR |
| umls:C2751683 | Hirschsprung disease ganglioneuroblastoma | 0 | CLINVAR |
| umls:C2931189 | Neural crest tumor | 0 | ORPHANET |
Copyright 2016-Present - The University of Texas Health Science Center at Houston (UTHealth) Web File Viewing | How to Report, Fraud, Waste and Abuse | State of Texas | Statewide Search | Texas Homeland Security | Site Policies |