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| TissGeneSummary for WBSCR28 |
 Gene summary |
| Basic gene information | Gene symbol | WBSCR28 |
| Gene name | Williams-Beuren syndrome chromosome region 28 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 7q11.23 | |
| Type of gene | protein-coding | |
| RefGenes | NM_182504.3, | |
| Description | Williams-Beuren syndrome chromosomal region 28 proteinWilliams-Beuren syndrome critical region 28 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 612547 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000175877 | ||
| HPRD : 15662 | ||
| Vega : OTTHUMG00000157243 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_WBSCR28 | |
| BioGPS: 135886 | ||
| Pathway | NCI Pathway Interaction Database: WBSCR28 | |
| KEGG: WBSCR28 | ||
| REACTOME: WBSCR28 | ||
| Pathway Commons: WBSCR28 | ||
| Context | iHOP: WBSCR28 | |
| ligand binding site mutation search in PubMed: WBSCR28 | ||
| UCL Cancer Institute: WBSCR28 | ||
| 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) | Testis | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | TGCT | |
| Reference showing the relevant tissue of WBSCR28 | ||
| Description by TissGene annotations | ||
| * 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 WBSCR28 |
| 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 |
| LUSC | -0.607053653 | -1.806779143 | 1.19972549 | 1.99E-05 | 4.42E-05 |
| BRCA | -1.074268359 | -2.857478008 | 1.783209649 | 2.87E-29 | 3.57E-28 |
| KIRP | -0.257991275 | -2.204722525 | 1.94673125 | 4.51E-08 | 2.97E-07 |
| COAD | -1.005892718 | -2.462685025 | 1.456792308 | 2.34E-07 | 1.53E-06 |
| ESCA | -1.194721389 | -2.884248662 | 1.689527273 | 0.000399 | 0.008168145 |
| HNSC | -1.532033863 | -2.620110607 | 1.088076744 | 6.80E-05 | 0.000321429 |
| STAD | -1.332447525 | -2.642522525 | 1.310075 | 3.36E-05 | 0.000308434 |
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| TissGene-miRNA for WBSCR28 |
| 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 WBSCR28 |
| TissGeneSNV for WBSCR28 |
| 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.P87L | SKCM | 2 |
| p.R29Q | SKCM | 2 |
| p.E220Q | LUAD | 1 |
| p.D129Y | STAD | 1 |
| p.V236A | STAD | 1 |
| p.P5S | SKCM | 1 |
| p.G254E | SKCM | 1 |
| p.V86F | HNSC | 1 |
| p.A226V | GBM | 1 |
| p.K177N | LUSC | 1 |
| p.P263S | SKCM | 1 |
| p.E230K | SKCM | 1 |
| p.T255A | LIHC | 1 |
| p.L77F | SKCM | 1 |
| p.A3S | LUAD | 1 |
| p.S10C | LUAD | 1 |
| p.R29* | THCA | 1 |
| p.V175L | BRCA | 1 |
| p.G80E | PAAD | 1 |
| p.I84M | BRCA | 1 |
| p.L165F | SKCM | 1 |
| p.P263S | KIRP | 1 |
| p.P72H | PRAD | 1 |
| p.P6S | SKCM | 1 |
| p.S244L | BRCA | 1 |
| p.T205I | LUAD | 1 |
| p.L203R | LIHC | 1 |
| p.V175I | STAD | 1 |
| p.S115G | STAD | 1 |
| p.L73Q | LUAD | 1 |
| p.H31Y | SKCM | 1 |
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| TissGeneCNV for WBSCR28 |
| 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 WBSCR28 |
| 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 WBSCR28 |
| 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 WBSCR28 |
| 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 WBSCR28 |
| TissGeneDrug for WBSCR28 |
| 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 WBSCR28 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
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