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| TissGeneSummary for SLC26A4 |
 Gene summary |
| Basic gene information | Gene symbol | SLC26A4 |
| Gene name | solute carrier family 26 (anion exchanger), member 4 | |
| Synonyms | DFNB4|EVA|PDS|TDH2B | |
| Cytomap | UCSC genome browser: 7q31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000441.1, | |
| Description | pendrinsodium-independent chloride/iodide transportersolute carrier family 26, member 4 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 605646 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000091137 | ||
| HPRD : 05735 | ||
| Vega : OTTHUMG00000154807 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SLC26A4 | |
| BioGPS: 5172 | ||
| Pathway | NCI Pathway Interaction Database: SLC26A4 | |
| KEGG: SLC26A4 | ||
| REACTOME: SLC26A4 | ||
| Pathway Commons: SLC26A4 | ||
| Context | iHOP: SLC26A4 | |
| ligand binding site mutation search in PubMed: SLC26A4 | ||
| UCL Cancer Institute: SLC26A4 | ||
| 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) | Thyroid gland | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | THCA | |
| Reference showing the relevant tissue of SLC26A4 | ||
| Description by TissGene annotations | Fused withOncogene Fused withTSGene | |
| * 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 SLC26A4 |
| 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 | 5.003725881 | 8.827114017 | -3.823388136 | 7.73E-15 | 9.67E-14 |
| LUSC | -1.146771925 | 0.20591631 | -1.352688235 | 2.49E-05 | 5.48E-05 |
| KIRC | -0.996276991 | 1.768617454 | -2.764894444 | 1.18E-11 | 4.58E-11 |
| KIRP | -1.768269352 | 2.546761898 | -4.31503125 | 4.22E-10 | 4.24E-09 |
| BRCA | -1.447712225 | 0.479725495 | -1.927437719 | 3.35E-25 | 3.40E-24 |
| HNSC | -2.113113102 | -0.941496823 | -1.171616279 | 0.00373 | 0.010530113 |
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| TissGene-miRNA for SLC26A4 |
| 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 |
| UCS | hsa-miR-1271-5p | MIMAT0005796 | 0.031 | -0.29 | 56 |
| Top |
| TissGeneMut for SLC26A4 |
| TissGeneSNV for SLC26A4 |
| 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.S355F | SKCM | 2 |
| p.R47W | COAD | 1 |
| p.L201F | LUAD | 1 |
| p.D266H | BLCA | 1 |
| p.P342T | LUAD | 1 |
| p.D772Y | UCEC | 1 |
| p.I726V | LUAD | 1 |
| p.P469H | KIRP | 1 |
| p.S90L | READ | 1 |
| p.S551Y | PRAD | 1 |
| p.Q730E | LIHC | 1 |
| p.H723N | LGG | 1 |
| p.S90L | UCEC | 1 |
| p.R185I | BLCA | 1 |
| p.F719C | UCEC | 1 |
| p.S551F | SKCM | 1 |
| p.R291L | LUAD | 1 |
| p.G149A | HNSC | 1 |
| p.G221V | LUAD | 1 |
| p.S526I | LUSC | 1 |
| p.E633K | SKCM | 1 |
| p.R409C | HNSC | 1 |
| p.A110V | CESC | 1 |
| p.E287* | LUAD | 1 |
| p.A284V | STAD | 1 |
| p.E29K | STAD | 1 |
| p.I211M | LIHC | 1 |
| p.W472R | LUAD | 1 |
| p.L442P | STAD | 1 |
| p.E767* | UCEC | 1 |
| p.S90L | BLCA | 1 |
| p.I539F | THYM | 1 |
| p.G265D | SKCM | 1 |
| p.S523N | SKCM | 1 |
| p.G249E | SKCM | 1 |
| p.G368E | SKCM | 1 |
| p.S133A | COAD | 1 |
| p.L658I | UCEC | 1 |
| p.P218S | SKCM | 1 |
| p.I481S | READ | 1 |
| p.P142S | SKCM | 1 |
| p.A434T | STAD | 1 |
| p.M175I | SKCM | 1 |
| p.K81N | STAD | 1 |
| p.T485M | COAD | 1 |
| p.V163I | STAD | 1 |
| p.E744G | HNSC | 1 |
| p.E626K | CESC | 1 |
| p.I604V | UCEC | 1 |
| p.G707E | STAD | 1 |
| p.P542H | ESCA | 1 |
| p.A387D | UCEC | 1 |
| p.E348K | LUSC | 1 |
| p.I605V | OV | 1 |
| p.E159K | SKCM | 1 |
| p.A779P | BLCA | 1 |
| p.T378I | UCEC | 1 |
| p.E765* | BLCA | 1 |
| p.P157S | SKCM | 1 |
| p.L445S | STAD | 1 |
| p.P157S | LUAD | 1 |
| p.S165N | PRAD | 1 |
| p.P654L | LIHC | 1 |
| p.D754Y | KIRC | 1 |
| p.V306M | LGG | 1 |
| p.S23L | BLCA | 1 |
| p.V212L | READ | 1 |
| p.A228S | LIHC | 1 |
| p.L251I | UCEC | 1 |
| p.E643Q | LUAD | 1 |
| p.I211T | UCEC | 1 |
| p.Y247H | PAAD | 1 |
| p.E348K | SKCM | 1 |
| p.T174N | LGG | 1 |
| p.F261L | UCS | 1 |
| p.P112A | BLCA | 1 |
| p.W74* | LUAD | 1 |
| p.R79Q | UCEC | 1 |
| p.C282Y | UCEC | 1 |
| p.T99M | UCEC | 1 |
| p.M175I | LUSC | 1 |
| p.S190G | LIHC | 1 |
| p.I547L | LGG | 1 |
| p.T378P | LIHC | 1 |
| p.A584V | READ | 1 |
| p.V88I | GBM | 1 |
| p.K564T | READ | 1 |
| p.G209E | SKCM | 1 |
| p.K593Q | PAAD | 1 |
| p.T755A | BRCA | 1 |
| p.P553H | PAAD | 1 |
| p.R677W | COAD | 1 |
| p.I327T | LUAD | 1 |
| p.E82K | SKCM | 1 |
| p.D528Y | CESC | 1 |
| p.V609G | DLBC | 1 |
| p.D573Y | UCEC | 1 |
| p.G595V | THYM | 1 |
| Top |
| TissGeneCNV for SLC26A4 |
| 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 SLC26A4 |
| 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 | BU527119 | GSTP1-SLC26A4 | chr11:67354124 | chr7:107322541 | |
| TCGAfusionPortal | PRADA | LUAD | TCGA-91-8499-01A | CBLL1-SLC26A4 | CDS-5UTR | Chr7:107389492 | Chr7:107302084 |
| TCGAfusionPortal | PRADA | LUSC | TCGA-22-1002-01A | BRAF-SLC26A4 | In-frame | Chr7:140534409 | Chr7:107323647 |
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| TissGeneNet for SLC26A4 |
| 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 SLC26A4 |
| 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 SLC26A4 |
| TissGeneDrug for SLC26A4 |
| 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 SLC26A4 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0271829 | Pendred's syndrome | 111 | BeFree,CLINVAR,CTD_human,GAD,MGD,ORPHANET,UNIPROT |
| umls:C1863752 | Enlarged Vestibular Aqueduct | 62 | BeFree,CLINVAR,GAD |
| umls:C0155552 | Hearing Loss, Mixed Conductive-Sensorineural | 59 | BeFree |
| umls:C0018784 | Sensorineural Hearing Loss (disorder) | 38 | BeFree,CTD_human,GAD,LHGDN |
| umls:C0018021 | Goiter | 32 | BeFree,CTD_human,GAD |
| umls:C3711374 | Nonsyndromic Deafness | 24 | BeFree |
| umls:C0011053 | Deafness | 20 | GAD |
| umls:C0018772 | Hearing Loss, Partial | 20 | GAD |
| umls:C1384666 | hearing impairment | 20 | CTD_human,GAD,LHGDN |
| umls:C0266589 | Congenital ear anomaly NOS (disorder) | 16 | BeFree |
| umls:C3887873 | Hearing Loss | 15 | GAD |
| umls:C3538946 | DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT | 13 | CTD_human,MGD,UNIPROT |
| umls:C0004096 | Asthma | 8 | BeFree,LHGDN |
| umls:C0018213 | Graves Disease | 6 | BeFree,GAD |
| umls:C0040128 | Thyroid Diseases | 6 | BeFree,LHGDN |
| umls:C0549473 | Thyroid carcinoma | 6 | BeFree |
| umls:C0020676 | Hypothyroidism | 5 | BeFree |
| umls:C0339789 | Congenital deafness | 5 | BeFree |
| umls:C0000768 | Congenital Abnormality | 4 | BeFree |
| umls:C0007115 | Malignant neoplasm of thyroid | 4 | BeFree |
| umls:C0178468 | Autoimmune thyroid disease | 4 | BeFree |
| umls:C0006142 | Malignant neoplasm of breast | 3 | BeFree |
| umls:C0010308 | Congenital Hypothyroidism | 3 | BeFree |
| umls:C0024117 | Chronic Obstructive Airway Disease | 3 | BeFree,LHGDN |
| umls:C0342200 | Endemic Cretinism | 3 | BeFree |
| umls:C0581883 | Complete Hearing Loss | 3 | GAD |
| umls:C0677607 | Hashimoto Disease | 3 | BeFree,GAD |
| umls:C0001430 | Adenoma | 2 | BeFree |
| umls:C0011052 | Prelingual Deafness | 2 | BeFree |
| umls:C0018775 | Hearing Loss, Bilateral | 2 | BeFree |
| umls:C0020538 | Hypertensive disease | 2 | BeFree |
| umls:C0040136 | Thyroid Neoplasm | 2 | BeFree |
| umls:C0042571 | Vertigo | 2 | BeFree,GAD |
| umls:C0158945 | Congenital cytomegalovirus infection | 2 | BeFree |
| umls:C0220726 | Diastrophic dysplasia | 2 | BeFree |
| umls:C0338656 | Impaired cognition | 2 | BeFree |
| umls:C0521785 | Hearing Loss, Unilateral | 2 | BeFree,GAD |
| umls:C0596263 | Carcinogenesis | 2 | BeFree |
| umls:C0678222 | Breast Carcinoma | 2 | BeFree |
| umls:C1337013 | Differentiated Thyroid Gland Carcinoma | 2 | BeFree |
| umls:C3826233 | Hearing impaired children | 2 | BeFree |
| umls:C0001122 | Acidosis | 1 | RGD |
| umls:C0009443 | Common Cold | 1 | BeFree |
| umls:C0010054 | Coronary Arteriosclerosis | 1 | BeFree |
| umls:C0010068 | Coronary heart disease | 1 | BeFree |
| umls:C0011265 | Presenile dementia | 1 | BeFree |
| umls:C0013395 | Dyspepsia | 1 | BeFree |
| umls:C0013570 | Ecthyma, Contagious | 1 | LHGDN |
| umls:C0015230 | Exanthema | 1 | BeFree |
| umls:C0018777 | Conductive hearing loss | 1 | BeFree |
| umls:C0019693 | HIV Infections | 1 | GAD |
| umls:C0023418 | leukemia | 1 | BeFree |
| umls:C0023467 | Leukemia, Myelocytic, Acute | 1 | BeFree |
| umls:C0026760 | Multiple Epiphyseal Dysplasia | 1 | BeFree |
| umls:C0031511 | Pheochromocytoma | 1 | BeFree |
| umls:C0033074 | Presbycusis | 1 | GAD |
| umls:C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| umls:C0038478 | Struma Ovarii | 1 | BeFree |
| umls:C0040147 | Thyroiditis | 1 | BeFree |
| umls:C0040156 | Thyrotoxicosis | 1 | BeFree |
| umls:C0042769 | Virus Diseases | 1 | BeFree |
| umls:C0206586 | Endolymphatic Hydrops | 1 | BeFree |
| umls:C0220983 | Metabolic alkalosis | 1 | BeFree |
| umls:C0238463 | Papillary thyroid carcinoma | 1 | BeFree |
| umls:C0260662 | Hearing problem | 1 | BeFree |
| umls:C0270814 | Spastic syndrome | 1 | BeFree |
| umls:C0271826 | Iodide transport defect | 1 | BeFree |
| umls:C0276447 | Rhinovirus infection | 1 | BeFree |
| umls:C0302840 | Toxic thyroid adenoma | 1 | BeFree |
| umls:C0302859 | Euthyroid Goiter | 1 | BeFree |
| umls:C0343284 | Chondrodysplasia | 1 | BeFree |
| umls:C0497327 | Dementia | 1 | BeFree |
| umls:C0546969 | Preauricular Fistulae, Congenital | 1 | BeFree |
| umls:C0699949 | airway disease | 1 | BeFree |
| umls:C0729233 | Dissecting aneurysm of the thoracic aorta | 1 | BeFree |
| umls:C0751955 | Brain Infarction | 1 | BeFree |
| umls:C0848332 | Spots on skin | 1 | BeFree |
| umls:C1563716 | Thyroid Dysgenesis | 1 | BeFree |
| umls:C1852271 | Auditory neuropathy | 1 | BeFree |
| umls:C1865866 | Congenital sensorineural hearing loss | 1 | BeFree |
| umls:C3539909 | Allergic disposition | 1 | BeFree |
| umls:C3714514 | Infection | 1 | LHGDN |
| umls:C0151516 | Thyroid Hypoplasia | 0 | ORPHANET |
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