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| TissGeneSummary for SOX3 |
 Gene summary |
| Basic gene information | Gene symbol | SOX3 |
| Gene name | SRY (sex determining region Y)-box 3 | |
| Synonyms | GHDX|MRGH|PHP|PHPX|SOXB | |
| Cytomap | UCSC genome browser: Xq27.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005634.2, | |
| Description | transcription factor SOX-3 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 313430 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000134595 | ||
| HPRD : 02432 | ||
| Vega : OTTHUMG00000022544 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SOX3 | |
| BioGPS: 6658 | ||
| Pathway | NCI Pathway Interaction Database: SOX3 | |
| KEGG: SOX3 | ||
| REACTOME: SOX3 | ||
| Pathway Commons: SOX3 | ||
| Context | iHOP: SOX3 | |
| ligand binding site mutation search in PubMed: SOX3 | ||
| UCL Cancer Institute: SOX3 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | TiGER,GTExHPA,TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | BrainTestis | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | GBM,LGGTGCT | |
| Reference showing the relevant tissue of SOX3 | ||
| Description by TissGene annotations | Protective TissGene in OS 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 |
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| TissGeneExp for SOX3 |
| 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) |
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| 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) |
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| 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. |
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| 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) |
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| - 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 |
| THCA | 1.002890055 | 2.439237513 | -1.436347458 | 0.000113 | 0.000307727 |
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| TissGene-miRNA for SOX3 |
| 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 SOX3 |
| TissGeneSNV for SOX3 |
| 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. |
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| 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) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.V53M | COAD | 2 |
| p.K219N | UCEC | 1 |
| p.Q136R | LUAD | 1 |
| p.H300Y | SARC | 1 |
| p.R196H | STAD | 1 |
| p.P29T | LIHC | 1 |
| p.M299I | SARC | 1 |
| p.A295T | UCS | 1 |
| p.E6K | CESC | 1 |
| p.R155C | LGG | 1 |
| p.N166T | STAD | 1 |
| p.S128C | LUAD | 1 |
| p.R194Q | UCEC | 1 |
| p.R141Q | GBM | 1 |
| p.S41I | LUAD | 1 |
| p.G129A | SKCM | 1 |
| p.R196C | UCEC | 1 |
| p.L229I | UCEC | 1 |
| p.D182E | LUAD | 1 |
| p.P290L | STAD | 1 |
| p.R22Q | UCEC | 1 |
| p.K85R | LIHC | 1 |
| p.G121C | LUAD | 1 |
| p.A21V | PRAD | 1 |
| p.E377Q | HNSC | 1 |
| p.E81X | SKCM | 1 |
| p.P142T | UCEC | 1 |
| p.W177X | SKCM | 1 |
| p.E377* | SKCM | 1 |
| p.A55T | GBM | 1 |
| p.A175T | COAD | 1 |
| p.A192D | LUAD | 1 |
| p.R155C | SARC | 1 |
| p.D190E | LIHC | 1 |
| p.Q136H | LUAD | 1 |
| p.A117G | LUAD | 1 |
| p.R155H | STAD | 1 |
| p.F146L | HNSC | 1 |
| p.A68V | COAD | 1 |
| p.A127V | COAD | 1 |
| p.R186X | COAD | 1 |
| p.R391H | STAD | 1 |
| p.R172C | BLCA | 1 |
| p.G131C | LUSC | 1 |
| p.D137Y | LUAD | 1 |
| p.A55T | COAD | 1 |
| p.W177* | SKCM | 1 |
| p.M164I | GBM | 1 |
| p.W177* | LUSC | 1 |
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| TissGeneCNV for SOX3 |
| 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 SOX3 |
| 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 SOX3 |
| 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) |
| SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (tumor) | SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (normal) |
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| COAD (tumor) | COAD (normal) |
| SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (tumor) | SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (tumor) | SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (normal) |
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| KICH (tumor) | KICH (normal) |
| SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (tumor) | SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (tumor) | SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (tumor) | SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (tumor) | SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (tumor) | SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (tumor) | SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (tumor) | SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (normal) |
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| STAD (tumor) | STAD (normal) |
| SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (tumor) | SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (normal) |
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| THCA (tumor) | THCA (normal) |
| SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (tumor) | SOX3, SP1, NFYA, RXRA, SUMO1, USF1, TGIF1, PAX6 (normal) |
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| TissGeneProg for SOX3 |
| 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. |
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| 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. |
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| 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. |
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| 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 SOX3 |
| TissGeneDrug for SOX3 |
| 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 SOX3 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0020635 | Hypopituitarism | 14 | BeFree,GAD,LHGDN |
| umls:C3494506 | Pseudohypoparathyroidism, Type Ia | 11 | BeFree |
| umls:C0032002 | Pituitary Diseases | 8 | BeFree |
| umls:C0033806 | Pseudohypoparathyroidism | 7 | BeFree |
| umls:C0025362 | Mental Retardation | 6 | BeFree |
| umls:C0242343 | Panhypopituitarism | 4 | BeFree,ORPHANET |
| umls:C0271561 | Somatotropin deficiency | 4 | BeFree |
| umls:C2931404 | Albright's hereditary osteodystrophy | 4 | BeFree |
| umls:C3714796 | Isolated somatotropin deficiency | 4 | BeFree |
| umls:C0013336 | Dwarfism | 3 | BeFree |
| umls:C0432475 | XX males | 3 | BeFree,ORPHANET |
| umls:C1136249 | Mental Retardation, X-Linked | 3 | BeFree,LHGDN |
| umls:C0010308 | Congenital Hypothyroidism | 2 | BeFree |
| umls:C0020626 | Hypoparathyroidism | 2 | BeFree |
| umls:C0033835 | Pseudopseudohypoparathyroidism | 2 | BeFree |
| umls:C0338503 | Septo-Optic Dysplasia | 2 | BeFree,LHGDN,ORPHANET |
| umls:C0342200 | Endemic Cretinism | 2 | BeFree |
| umls:C0424605 | Developmental delay (disorder) | 2 | BeFree |
| umls:C0878683 | Pituitary Dwarfism Type 3 | 2 | BeFree |
| umls:C1864100 | PSEUDOHYPOPARATHYROIDISM, TYPE IB | 2 | BeFree |
| umls:C3714756 | Intellectual Disability | 2 | BeFree |
| umls:C0002395 | Alzheimer's Disease | 1 | GAD |
| umls:C0004509 | Azoospermia | 1 | BeFree |
| umls:C0004903 | Beckwith-Wiedemann Syndrome | 1 | BeFree |
| umls:C0008533 | Hemophilia B | 1 | BeFree |
| umls:C0013338 | Pituitary dwarfism | 1 | BeFree |
| umls:C0018054 | Gonadal Dysgenesis, 46,XY | 1 | BeFree |
| umls:C0018801 | Heart failure | 1 | BeFree |
| umls:C0018802 | Congestive heart failure | 1 | BeFree |
| umls:C0021364 | Male infertility | 1 | BeFree |
| umls:C0025149 | Medulloblastoma | 1 | BeFree |
| umls:C0026106 | Mild Mental Retardation | 1 | BeFree |
| umls:C0028754 | Obesity | 1 | BeFree |
| umls:C0080178 | Spina Bifida | 1 | BeFree |
| umls:C0149925 | Small cell carcinoma of lung | 1 | BeFree |
| umls:C0158981 | Neonatal diabetes mellitus | 1 | BeFree |
| umls:C0235864 | Congenital hypertrichosis lanuginosa | 1 | BeFree |
| umls:C0264009 | Osteodystrophy | 1 | BeFree |
| umls:C0279626 | Squamous cell carcinoma of esophagus | 1 | BeFree |
| umls:C0796004 | Kabuki make-up syndrome | 1 | BeFree |
| umls:C1709246 | Non-Neoplastic Disorder | 1 | BeFree |
| umls:C1848213 | Periventricular Heterotopia, X-Linked | 1 | BeFree |
| umls:C2932715 | Pseudohypoparathyroidism Type 1B | 1 | BeFree |
| umls:C2936812 | Congenital hypertrichosis | 1 | BeFree |
| umls:C0265216 | X-linked hydrocephalus syndrome | 0 | MGD |
| umls:C0342376 | Panhypopituitarism - X-linked | 0 | CLINVAR,CTD_human |
| umls:C1848068 | Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency | 0 | CLINVAR |
| umls:C2678223 | Mental Retardation, X-Linked, With Panhypopituitarism | 0 | CTD_human,MGD,ORPHANET |
| umls:C2936419 | 46, XX Testicular Disorders of Sex Development | 0 | ORPHANET |
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