TissGeneSummary for DEFB119 |
Gene summary |
Basic gene information | Gene symbol | DEFB119 |
Gene name | defensin, beta 119 | |
Synonyms | DEFB-19|DEFB-20|DEFB120|DEFB20|ESC42-RELA|ESC42-RELB | |
Cytomap | UCSC genome browser: 20q11.21 | |
Type of gene | protein-coding | |
RefGenes | NM_001271209.1, NM_153289.3,NM_153323.4,NR_073151.1,NR_073152.1, NR_073153.1,NR_126440.1, | |
Description | beta-defensin 119defensin, beta 120defensin, beta 19defensin, beta 20 | |
Modification date | 20141207 | |
dbXrefs | MIM : 615997 | |
HGNC : HGNC | ||
Ensembl : ENSG00000180483 | ||
HPRD : 10873 | ||
Vega : OTTHUMG00000032172 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_DEFB119 | |
BioGPS: 245932 | ||
Pathway | NCI Pathway Interaction Database: DEFB119 | |
KEGG: DEFB119 | ||
REACTOME: DEFB119 | ||
Pathway Commons: DEFB119 | ||
Context | iHOP: DEFB119 | |
ligand binding site mutation search in PubMed: DEFB119 | ||
UCL Cancer Institute: DEFB119 | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | TiGER,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 DEFB119 | ||
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 DEFB119 |
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 |
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TissGene-miRNA for DEFB119 |
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 DEFB119 |
TissGeneSNV for DEFB119 |
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.E43K | SKCM | 2 |
p.G27E | SKCM | 2 |
p.X85R | STAD | 1 |
p.P39S | SKCM | 1 |
p.R46C | PAAD | 1 |
p.M25I | LUAD | 1 |
p.G33R | SKCM | 1 |
p.P45S | THYM | 1 |
p.K80Q | UCEC | 1 |
p.R48W | BRCA | 1 |
p.E69K | SKCM | 1 |
p.L12P | PAAD | 1 |
p.S64R | UCEC | 1 |
p.G33E | SKCM | 1 |
p.R46H | ESCA | 1 |
p.R46H | UCEC | 1 |
p.S40P | SKCM | 1 |
p.R23H | COAD | 1 |
p.R23H | PAAD | 1 |
p.P52L | THCA | 1 |
p.M81I | SKCM | 1 |
p.R24K | SKCM | 1 |
p.G65E | SKCM | 1 |
p.E70K | SKCM | 1 |
p.M81I | LUAD | 1 |
p.R42H | COAD | 1 |
p.E69D | UCEC | 1 |
p.T57S | LUAD | 1 |
p.G21A | LUAD | 1 |
p.H64N | LUAD | 1 |
p.L4F | SKCM | 1 |
p.R48W | STAD | 1 |
p.G27R | SKCM | 1 |
p.R42H | LGG | 1 |
p.R54C | STAD | 1 |
p.R44Q | SKCM | 1 |
p.I63N | LUAD | 1 |
p.R54P | LUAD | 1 |
p.R46C | SKCM | 1 |
p.C29F | LGG | 1 |
p.I14L | LIHC | 1 |
p.E43K | PAAD | 1 |
p.R27* | STAD | 1 |
p.T77A | UCEC | 1 |
p.L56F | SARC | 1 |
p.K41N | UCEC | 1 |
p.R46C | LUAD | 1 |
p.S54F | SKCM | 1 |
p.D26N | SKCM | 1 |
p.M25I | SKCM | 1 |
p.M1I | SKCM | 1 |
p.P52S | SARC | 1 |
p.G68D | SKCM | 1 |
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TissGeneCNV for DEFB119 |
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 DEFB119 |
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 |
TCGAfusionPortal | PRADA | LGG | TCGA-DU-5871-01A | MARCH8-DEFB119 | 5UTR-CDS | Chr10:46089683 | Chr20:29966194 |
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TissGeneNet for DEFB119 |
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 DEFB119 |
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 DEFB119 |
TissGeneDrug for DEFB119 |
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 DEFB119 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |