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| TissGeneSummary for VWA3B |
 Gene summary |
| Basic gene information | Gene symbol | VWA3B |
| Gene name | von Willebrand factor A domain containing 3B | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 2q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_144992.4, | |
| Description | von Willebrand factor A domain-containing protein 3B | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000168658 | ||
| HPRD : 14510 | ||
| Vega : OTTHUMG00000153104 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_VWA3B | |
| BioGPS: 200403 | ||
| Pathway | NCI Pathway Interaction Database: VWA3B | |
| KEGG: VWA3B | ||
| REACTOME: VWA3B | ||
| Pathway Commons: VWA3B | ||
| Context | iHOP: VWA3B | |
| ligand binding site mutation search in PubMed: VWA3B | ||
| UCL Cancer Institute: VWA3B | ||
| 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 VWA3B | ||
| 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 VWA3B |
| 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 |
| KICH | -3.111086124 | -0.129570124 | -2.981516 | 8.12E-11 | 6.39E-10 |
| KIRC | -2.854629124 | -0.972499957 | -1.882129167 | 1.11E-15 | 5.83E-15 |
| KIRP | -2.643904124 | -1.087185374 | -1.55671875 | 7.73E-07 | 4.01E-06 |
| LUAD | 0.647642428 | 3.140623462 | -2.492981034 | 9.46E-07 | 3.20E-06 |
| COAD | -0.920081047 | 0.83424203 | -1.754323077 | 3.83E-06 | 1.92E-05 |
| LUSC | -1.097975693 | 2.972314503 | -4.070290196 | 2.44E-13 | 1.21E-12 |
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| TissGene-miRNA for VWA3B |
| 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 VWA3B |
| TissGeneSNV for VWA3B |
| 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.E721K | SKCM | 2 |
| p.G150D | PAAD | 2 |
| p.E626K | SKCM | 2 |
| p.G1021E | SKCM | 2 |
| p.A816S | ESCA | 2 |
| p.P666S | SKCM | 2 |
| p.E558K | SKCM | 2 |
| p.P1242H | THYM | 1 |
| p.F177L | SKCM | 1 |
| p.P362L | SKCM | 1 |
| p.A331T | COAD | 1 |
| p.A1263T | STAD | 1 |
| p.S521N | THCA | 1 |
| p.G1108R | SKCM | 1 |
| p.L859I | THCA | 1 |
| p.S4L | SKCM | 1 |
| p.A446T | STAD | 1 |
| p.G1235V | ESCA | 1 |
| p.F634L | CESC | 1 |
| p.P1121S | SKCM | 1 |
| p.P305T | PAAD | 1 |
| p.I424T | LIHC | 1 |
| p.K425N | SKCM | 1 |
| p.E721K | LUSC | 1 |
| p.Q86H | LUAD | 1 |
| p.S928Y | LUAD | 1 |
| p.D495N | SARC | 1 |
| p.T804S | HNSC | 1 |
| p.D313E | BLCA | 1 |
| p.D1196Y | LUSC | 1 |
| p.D607N | SKCM | 1 |
| p.W754G | SKCM | 1 |
| p.Q943K | LUAD | 1 |
| p.S128N | KIRP | 1 |
| p.V378F | LUAD | 1 |
| p.T1281N | LUSC | 1 |
| p.A816S | LUAD | 1 |
| p.R792K | SKCM | 1 |
| p.E598* | UCEC | 1 |
| p.R1061H | PAAD | 1 |
| p.P1275R | PCPG | 1 |
| p.D412N | STAD | 1 |
| p.S414F | LUSC | 1 |
| p.E379D | LUSC | 1 |
| p.A1087V | SKCM | 1 |
| p.E236K | LUSC | 1 |
| p.E986K | SKCM | 1 |
| p.E303* | PAAD | 1 |
| p.E153D | LGG | 1 |
| p.Q719E | BLCA | 1 |
| p.S745L | SKCM | 1 |
| p.E730K | SKCM | 1 |
| p.Q535_splice | LUSC | 1 |
| p.A1087D | KIRC | 1 |
| p.H1229Q | LUAD | 1 |
| p.S1227F | PCPG | 1 |
| p.R407Q | UCEC | 1 |
| p.A1254S | ESCA | 1 |
| p.S724F | READ | 1 |
| p.L587V | KIRC | 1 |
| p.V246A | BLCA | 1 |
| p.E959* | UCEC | 1 |
| p.G654X | COAD | 1 |
| p.K1123R | LUSC | 1 |
| p.P1188L | DLBC | 1 |
| p.N178T | COAD | 1 |
| p.Q834H | LGG | 1 |
| p.S521C | STAD | 1 |
| p.E19D | LUAD | 1 |
| p.E248* | LUSC | 1 |
| p.T1082M | LUSC | 1 |
| p.E429K | SKCM | 1 |
| p.T728A | SKCM | 1 |
| p.N916D | OV | 1 |
| p.I640L | LGG | 1 |
| p.E209K | HNSC | 1 |
| p.K712N | SARC | 1 |
| p.H1162N | ACC | 1 |
| p.K1208E | STAD | 1 |
| p.G752R | SKCM | 1 |
| p.L691M | PRAD | 1 |
| p.P247S | SKCM | 1 |
| p.R1145Q | BLCA | 1 |
| p.H293R | LIHC | 1 |
| p.A869V | THYM | 1 |
| p.E1203D | LGG | 1 |
| p.W754S | BLCA | 1 |
| p.E791V | ESCA | 1 |
| p.G150D | KIRP | 1 |
| p.E303X | PAAD | 1 |
| p.E12V | SKCM | 1 |
| p.R1271P | LUAD | 1 |
| p.S1228P | LUAD | 1 |
| p.S200C | CESC | 1 |
| p.E103K | SKCM | 1 |
| p.G608V | UCEC | 1 |
| p.T350M | LUAD | 1 |
| p.K442N | BLCA | 1 |
| p.P669L | SKCM | 1 |
| p.S70Y | THYM | 1 |
| p.R778G | LUAD | 1 |
| p.R1271* | LGG | 1 |
| p.R485W | ESCA | 1 |
| p.D157H | BLCA | 1 |
| p.T631N | BRCA | 1 |
| p.S757P | UCEC | 1 |
| p.P195S | BLCA | 1 |
| p.R920* | UCEC | 1 |
| p.E30X | ESCA | 1 |
| p.D863N | SKCM | 1 |
| p.K591* | HNSC | 1 |
| p.T584A | UCEC | 1 |
| p.P264A | BLCA | 1 |
| p.R487G | SKCM | 1 |
| p.V879F | LUSC | 1 |
| p.A80G | MESO | 1 |
| p.G912E | SKCM | 1 |
| p.S689R | BLCA | 1 |
| p.A1254T | UCEC | 1 |
| p.N1047K | LUAD | 1 |
| p.D419Y | HNSC | 1 |
| p.G832R | SKCM | 1 |
| p.A331T | CESC | 1 |
| p.L680S | PRAD | 1 |
| p.H768Q | LUSC | 1 |
| p.I917M | LUSC | 1 |
| p.G1230S | UCEC | 1 |
| p.L971F | LUAD | 1 |
| p.W706* | SKCM | 1 |
| p.R131W | LUAD | 1 |
| p.S746Y | UCEC | 1 |
| p.S724Y | UCEC | 1 |
| p.V182F | ESCA | 1 |
| p.S237C | BLCA | 1 |
| p.N1010K | SKCM | 1 |
| p.D550H | BLCA | 1 |
| p.S724F | SKCM | 1 |
| p.K469E | KIRC | 1 |
| p.P1144H | HNSC | 1 |
| p.E30* | LUAD | 1 |
| p.D665N | SKCM | 1 |
| p.Q762* | SKCM | 1 |
| p.A1192V | BRCA | 1 |
| p.D283Y | KIRP | 1 |
| p.P1167S | SKCM | 1 |
| p.G276D | MESO | 1 |
| p.Q686H | ESCA | 1 |
| p.V885M | COAD | 1 |
| p.K1006N | UCEC | 1 |
| p.E477D | BLCA | 1 |
| p.S290R | LUAD | 1 |
| p.E647D | BRCA | 1 |
| p.D365N | DLBC | 1 |
| p.R1256H | PAAD | 1 |
| p.S47N | PAAD | 1 |
| p.R1201* | UCEC | 1 |
| p.A1263T | LGG | 1 |
| p.F292L | LUAD | 1 |
| p.E562X | THYM | 1 |
| p.G1251V | BRCA | 1 |
| p.G330R | SKCM | 1 |
| p.A331D | LUAD | 1 |
| p.R932H | UCEC | 1 |
| p.K693N | SKCM | 1 |
| p.A1087T | HNSC | 1 |
| p.P456S | SKCM | 1 |
| p.I1149F | HNSC | 1 |
| p.S461N | LUSC | 1 |
| p.V465I | STAD | 1 |
| p.Y698D | UCEC | 1 |
| p.S1182F | SKCM | 1 |
| p.R1139Q | SKCM | 1 |
| p.Q911E | LIHC | 1 |
| p.I602T | LIHC | 1 |
| p.R222C | COAD | 1 |
| p.M982L | LUAD | 1 |
| p.A296S | THYM | 1 |
| p.V879I | PAAD | 1 |
| p.H505Y | STAD | 1 |
| p.T829M | UCEC | 1 |
| p.A272T | STAD | 1 |
| p.A272S | LIHC | 1 |
| p.E700D | STAD | 1 |
| p.K49E | SKCM | 1 |
| p.P1188L | SKCM | 1 |
| p.K46R | SKCM | 1 |
| p.T829M | HNSC | 1 |
| p.L15V | OV | 1 |
| p.A359V | LIHC | 1 |
| p.S269F | SKCM | 1 |
| p.A294T | COAD | 1 |
| p.C413F | STAD | 1 |
| p.S928P | UCEC | 1 |
| p.T631N | LUAD | 1 |
| p.L462S | UCEC | 1 |
| p.P669S | SKCM | 1 |
| p.R802Q | READ | 1 |
| p.V243M | BLCA | 1 |
| p.V1104A | LUAD | 1 |
| p.G330A | HNSC | 1 |
| p.N192K | PRAD | 1 |
| p.D881N | SKCM | 1 |
| p.A1254T | STAD | 1 |
| p.R1139W | COAD | 1 |
| p.K1190* | SKCM | 1 |
| p.T288N | LUAD | 1 |
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| TissGeneCNV for VWA3B |
| 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 VWA3B |
| 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 |
| Chimerdb3.0 | ChiTaRs | NA | BU607596 | VWA3B-VWA3B | chr2:98929407 | chr2:98929029 | |
| Chimerdb3.0 | TopHat-Fusion | UCEC | TCGA-EY-A5W2-01A | ATP5B-VWA3B | Out-of-Frame | chr12:57032135 | chr2:98824051 |
| Chimerdb3.0 | TopHat-Fusion | UCEC | TCGA-BG-A0MK-01A | ATP5B-VWA3B | In-Frame | chr12:57038639 | chr2:98822908 |
| Chimerdb3.0 | TopHat-Fusion | KIRC | TCGA-B0-4699-01A | ATP5B-VWA3B | Out-of-Frame | chr12:57032127 | chr2:98824051 |
| Chimerdb3.0 | TopHat-Fusion | KIRC | TCGA-DV-5576-01A | ATP5B-VWA3B | In-Frame | chr12:57037323 | chr2:98823204 |
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| TissGeneNet for VWA3B |
| 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 VWA3B |
| 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 VWA3B |
| TissGeneDrug for VWA3B |
| 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 VWA3B |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
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