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| TissGeneSummary for BSND |
 Gene summary |
| Basic gene information | Gene symbol | BSND |
| Gene name | barttin CLCNK-type chloride channel accessory beta subunit | |
| Synonyms | BART|DFNB73 | |
| Cytomap | UCSC genome browser: 1p32.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_057176.2, | |
| Description | Bartter syndrome, infantile, with sensorineural deafness (Barttin)barttindeafness, autosomal recessive 73 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606412 | |
| HGNC : HGNC | ||
| HPRD : 05914 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BSND | |
| BioGPS: 7809 | ||
| Pathway | NCI Pathway Interaction Database: BSND | |
| KEGG: BSND | ||
| REACTOME: BSND | ||
| Pathway Commons: BSND | ||
| Context | iHOP: BSND | |
| ligand binding site mutation search in PubMed: BSND | ||
| UCL Cancer Institute: BSND | ||
| 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) | Kidney | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICH | |
| Reference showing the relevant tissue of BSND | ||
| Description by TissGene annotations | Protective TissGene in OS | |
| * 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 BSND |
| 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 |
| KIRC | -1.396801485 | 6.600255459 | -7.997056944 | 4.14E-61 | 2.36E-58 |
| KIRP | -1.33722718 | 6.833669695 | -8.170896875 | 8.53E-25 | 1.12E-22 |
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| TissGene-miRNA for BSND |
| 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 BSND |
| TissGeneSNV for BSND |
| 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.G302E | HNSC | 1 |
| p.G302R | SKCM | 1 |
| p.M26K | LUSC | 1 |
| p.H165N | STAD | 1 |
| p.R30Q | UCEC | 1 |
| p.Y57* | CESC | 1 |
| p.P134S | SKCM | 1 |
| p.M203I | SKCM | 1 |
| p.S168L | LUAD | 1 |
| p.G137R | SKCM | 1 |
| p.V13L | BRCA | 1 |
| p.E277K | SKCM | 1 |
| p.P134L | SKCM | 1 |
| p.V63I | GBM | 1 |
| p.A262T | HNSC | 1 |
| p.D236E | LUSC | 1 |
| p.E104K | SKCM | 1 |
| p.D204H | LUSC | 1 |
| p.D282N | SKCM | 1 |
| p.T6I | SKCM | 1 |
| p.D3Y | LUAD | 1 |
| p.E291K | SKCM | 1 |
| p.W259R | KIRC | 1 |
| p.L141V | OV | 1 |
| p.P64L | SKCM | 1 |
| p.R269L | LUAD | 1 |
| p.V162M | STAD | 1 |
| p.E292K | LUAD | 1 |
| p.G150V | KIRP | 1 |
| p.A262V | BRCA | 1 |
| p.G147R | SKCM | 1 |
| p.Q155E | HNSC | 1 |
| p.R218G | LIHC | 1 |
| p.G190S | SKCM | 1 |
| p.R176C | COAD | 1 |
| p.M26I | BLCA | 1 |
| p.S67Y | LUAD | 1 |
| p.F7C | SKCM | 1 |
| p.M53L | SKCM | 1 |
| p.S223F | SKCM | 1 |
| p.G149V | HNSC | 1 |
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| TissGeneCNV for BSND |
| 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 BSND |
| 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 BSND |
| 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) |
| BSND, ARL3, ARL2 (tumor) | BSND, ARL3, ARL2 (normal) |
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| COAD (tumor) | COAD (normal) |
| BSND, ARL3, ARL2 (tumor) | BSND, ARL3, ARL2 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| BSND, ARL3, ARL2 (tumor) | BSND, ARL3, ARL2 (normal) |
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| KICH (tumor) | KICH (normal) |
| BSND, ARL3, ARL2 (tumor) | BSND, ARL3, ARL2 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| BSND, ARL3, ARL2 (tumor) | BSND, ARL3, ARL2 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| BSND, ARL3, ARL2 (tumor) | BSND, ARL3, ARL2 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| BSND, ARL3, ARL2 (tumor) | BSND, ARL3, ARL2 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| BSND, ARL3, ARL2 (tumor) | BSND, ARL3, ARL2 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| BSND, ARL3, ARL2 (tumor) | BSND, ARL3, ARL2 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| BSND, ARL3, ARL2 (tumor) | BSND, ARL3, ARL2 (normal) |
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| STAD (tumor) | STAD (normal) |
| BSND, ARL3, ARL2 (tumor) | BSND, ARL3, ARL2 (normal) |
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| THCA (tumor) | THCA (normal) |
| BSND, ARL3, ARL2 (tumor) | BSND, ARL3, ARL2 (normal) |
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| TissGeneProg for BSND |
| 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 BSND |
| TissGeneDrug for BSND |
| 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 BSND |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0004775 | Bartter Disease | 19 | BeFree,LHGDN |
| umls:C0018784 | Sensorineural Hearing Loss (disorder) | 8 | BeFree |
| umls:C2931822 | Nasopharyngeal carcinoma | 8 | BeFree |
| umls:C0022661 | Kidney Failure, Chronic | 3 | BeFree |
| umls:C0035078 | Kidney Failure | 3 | BeFree |
| umls:C0235974 | Pancreatic carcinoma | 3 | BeFree |
| umls:C0346647 | Malignant neoplasm of pancreas | 3 | BeFree |
| umls:C0596263 | Carcinogenesis | 3 | BeFree |
| umls:C1865270 | BARTTER SYNDROME, TYPE 4A | 3 | CLINVAR,CTD_human,MGD,UNIPROT |
| umls:C0011053 | Deafness | 2 | LHGDN |
| umls:C0085580 | Essential Hypertension | 2 | BeFree |
| umls:C0699791 | Stomach Carcinoma | 2 | BeFree |
| umls:C3711374 | Nonsyndromic Deafness | 2 | BeFree |
| umls:C0002063 | Alkalosis | 1 | BeFree |
| umls:C0019829 | Hodgkin Disease | 1 | BeFree |
| umls:C0020438 | Hypercalciuria | 1 | BeFree |
| umls:C0020538 | Hypertensive disease | 1 | GAD |
| umls:C0027051 | Myocardial Infarction | 1 | GAD |
| umls:C0027709 | Nephrocalcinosis | 1 | BeFree |
| umls:C0155552 | Hearing Loss, Mixed Conductive-Sensorineural | 1 | BeFree |
| umls:C0339789 | Congenital deafness | 1 | BeFree |
| umls:C1520166 | Xenograft Model | 1 | BeFree |
| umls:C1956346 | Coronary Artery Disease | 1 | GAD |
| umls:C2748440 | Sensorineural Deafness With Mild Renal Dysfunction | 0 | CLINVAR |
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