TissGeneSummary for UMOD |
Gene summary |
Basic gene information | Gene symbol | UMOD |
Gene name | uromodulin | |
Synonyms | ADMCKD2|FJHN|HNFJ|HNFJ1|MCKD2|THGP|THP | |
Cytomap | UCSC genome browser: 16p12.3 | |
Type of gene | protein-coding | |
RefGenes | NM_001008389.2, NM_001278614.1,NM_003361.3, | |
Description | Tamm-Horsfall urinary glycoproteinuromucoid | |
Modification date | 20141219 | |
dbXrefs | MIM : 191845 | |
HGNC : HGNC | ||
Ensembl : ENSG00000169344 | ||
HPRD : 11771 | ||
Vega : OTTHUMG00000131488 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_UMOD | |
BioGPS: 7369 | ||
Pathway | NCI Pathway Interaction Database: UMOD | |
KEGG: UMOD | ||
REACTOME: UMOD | ||
Pathway Commons: UMOD | ||
Context | iHOP: UMOD | |
ligand binding site mutation search in PubMed: UMOD | ||
UCL Cancer Institute: UMOD | ||
Assigned class in TissGDB* | A | |
Included tissue-specific gene expression resources | HPA,TiGER,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 UMOD | Integrative urinary peptidomics in renal transplantation identifies biomarkers for acute rejection. J Am Soc Nephrol. 2010 Apr;21(4):646-53. (pmid:20150539) go to article | |
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 | GO:0007157 | heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules | 20798515 | GO:0007159 | leukocyte cell-cell adhesion | 20798515 | GO:1990266 | neutrophil migration | 20798515 | GO:0007157 | heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules | 20798515 | GO:0007159 | leukocyte cell-cell adhesion | 20798515 | GO:1990266 | neutrophil migration | 20798515 |
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TissGeneExp for UMOD |
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 |
KIRP | 1.991553131 | 14.72282813 | -12.731275 | 1.48E-33 | 8.30E-31 |
KICH | -0.159006119 | 14.81658988 | -14.975596 | 4.48E-28 | 2.47E-25 |
KIRC | 1.251227436 | 14.39036077 | -13.13913333 | 1.40E-49 | 1.13E-47 |
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TissGene-miRNA for UMOD |
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 UMOD |
TissGeneSNV for UMOD |
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.S360F | SKCM | 2 |
p.A400V | UCEC | 1 |
p.L94M | LUAD | 1 |
p.P105S | SKCM | 1 |
p.P466T | LUAD | 1 |
p.N600I | LUAD | 1 |
p.R449K | SKCM | 1 |
p.Q20* | HNSC | 1 |
p.L670V | LUAD | 1 |
p.Q557* | SKCM | 1 |
p.R459W | STAD | 1 |
p.D177G | ESCA | 1 |
p.N371K | GBM | 1 |
p.F581L | SKCM | 1 |
p.D144G | ESCA | 1 |
p.D388N | UVM | 1 |
p.K610R | HNSC | 1 |
p.R482K | SKCM | 1 |
p.E430G | HNSC | 1 |
p.S619R | BRCA | 1 |
p.S513F | HNSC | 1 |
p.L382M | UCEC | 1 |
p.G452R | COAD | 1 |
p.D229N | ESCA | 1 |
p.E48Q | BLCA | 1 |
p.V477M | LUAD | 1 |
p.P499T | LUAD | 1 |
p.D376Y | BRCA | 1 |
p.R531* | BLCA | 1 |
p.D355N | READ | 1 |
p.R418Q | PAAD | 1 |
p.D338Y | LUAD | 1 |
p.Y286* | LUAD | 1 |
p.N633D | HNSC | 1 |
p.D196N | ESCA | 1 |
p.D259G | UCEC | 1 |
p.G484V | LUAD | 1 |
p.R415C | UCEC | 1 |
p.S509F | SKCM | 1 |
p.P474T | LUAD | 1 |
p.M442T | KIRC | 1 |
p.S480F | HNSC | 1 |
p.T394M | STAD | 1 |
p.S39A | KIRC | 1 |
p.D355N | UVM | 1 |
p.S618N | UCEC | 1 |
p.T394M | PAAD | 1 |
p.A23V | UCEC | 1 |
p.C69X | ESCA | 1 |
p.P441T | LUAD | 1 |
p.K577R | HNSC | 1 |
p.S327F | SKCM | 1 |
p.E575* | LUAD | 1 |
p.V625F | LUSC | 1 |
p.L349M | UCEC | 1 |
p.L344P | UCEC | 1 |
p.A433V | UCEC | 1 |
p.G546C | HNSC | 1 |
p.T40S | COAD | 1 |
p.A556G | OV | 1 |
p.V80F | LUAD | 1 |
p.G191A | SARC | 1 |
p.A299D | LUAD | 1 |
p.Y507S | UCS | 1 |
p.V64M | UCEC | 1 |
p.N257K | LUSC | 1 |
p.R492Q | LUAD | 1 |
p.A438V | COAD | 1 |
p.L634F | LUAD | 1 |
p.T357S | LUSC | 1 |
p.G579C | HNSC | 1 |
p.E54K | SKCM | 1 |
p.C102* | ESCA | 1 |
p.R385Q | PAAD | 1 |
p.P636L | LUSC | 1 |
p.E129K | KICH | 1 |
p.R587W | SKCM | 1 |
p.L429M | COAD | 1 |
p.A471T | PAAD | 1 |
p.G451V | LUAD | 1 |
p.C539Y | BLCA | 1 |
p.E96K | KICH | 1 |
p.R415C | ESCA | 1 |
p.R554W | SKCM | 1 |
p.S33F | SKCM | 1 |
p.V375L | LUAD | 1 |
p.D353N | SKCM | 1 |
p.V47F | LUAD | 1 |
p.P466S | SKCM | 1 |
p.R492W | LUAD | 1 |
p.A260V | STAD | 1 |
p.Y319* | LUAD | 1 |
p.T437N | ESCA | 1 |
p.R459W | UCEC | 1 |
p.V357I | STAD | 1 |
p.R459W | LUAD | 1 |
p.L406F | COAD | 1 |
p.L377P | UCEC | 1 |
p.C96S | LUAD | 1 |
p.N633I | LUAD | 1 |
p.V276M | LUAD | 1 |
p.D292N | SKCM | 1 |
p.P543T | BLCA | 1 |
p.T62I | COAD | 1 |
p.Y540S | UCS | 1 |
p.V12A | SKCM | 1 |
p.G344C | LUAD | 1 |
p.T427_splice | GBM | 1 |
p.A438T | PAAD | 1 |
p.P428L | SKCM | 1 |
p.T234M | COAD | 1 |
p.P461L | SKCM | 1 |
p.E87K | SKCM | 1 |
p.R385Q | UCEC | 1 |
p.V510M | LUAD | 1 |
p.N600D | HNSC | 1 |
p.V47I | ESCA | 1 |
p.P499S | SKCM | 1 |
p.C65F | LUAD | 1 |
p.E337D | SKCM | 1 |
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TissGeneCNV for UMOD |
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 UMOD |
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 UMOD |
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 UMOD |
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 UMOD |
TissGeneDrug for UMOD |
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 UMOD |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0268113 | Familial juvenile gout | 38 | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT |
umls:C0022658 | Kidney Diseases | 25 | BeFree,CTD_human,GAD,LHGDN |
umls:C1561643 | Chronic Kidney Diseases | 22 | BeFree,GWASCAT |
umls:C0022661 | Kidney Failure, Chronic | 17 | BeFree,GAD |
umls:C0035078 | Kidney Failure | 16 | BeFree |
umls:C0740394 | Hyperuricemia | 14 | BeFree,LHGDN |
umls:C1868139 | Medullary cystic kidney disease 1 | 13 | BeFree,MGD |
umls:C0403447 | Chronic Kidney Insufficiency | 11 | BeFree,GAD |
umls:C0020538 | Hypertensive disease | 10 | BeFree,CTD_human,GAD,GWASCAT |
umls:C2316810 | Chronic kidney disease stage 5 | 9 | BeFree |
umls:C0687120 | Nephronophthisis | 8 | BeFree |
umls:C1859040 | Medullary Cystic Kidney Disease Type 2 | 8 | BeFree,CLINVAR,CTD_human,MGD,UNIPROT |
umls:C0022650 | Kidney Calculi | 6 | BeFree,GAD |
umls:C0235419 | Hyperuricemic nephropathy | 5 | BeFree |
umls:C1565489 | Renal Insufficiency | 5 | BeFree |
umls:C1691228 | Cystic Kidney Diseases | 4 | LHGDN |
umls:C0003469 | Anxiety Disorders | 3 | BeFree |
umls:C0011847 | Diabetes | 3 | BeFree |
umls:C0011849 | Diabetes Mellitus | 3 | BeFree |
umls:C0027707 | Nephritis, Interstitial | 3 | BeFree |
umls:C0041349 | Nephritis, Tubulointerstitial | 3 | BeFree |
umls:C0042029 | Urinary tract infection | 3 | BeFree |
umls:C0010709 | Cyst | 2 | BeFree |
umls:C0011881 | Diabetic Nephropathy | 2 | BeFree,GAD |
umls:C0020258 | Hydrocephalus, Normal Pressure | 2 | BeFree |
umls:C1458155 | Mammary Neoplasms | 2 | BeFree |
umls:C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | 2 | BeFree |
umls:C2919861 | Medullary cystic kidney disease type 1 | 2 | BeFree |
umls:C2939174 | Medullary cystic disease | 2 | BeFree |
umls:C0001925 | Albuminuria | 1 | GAD |
umls:C0002986 | Fabry Disease | 1 | LHGDN |
umls:C0003850 | Arteriosclerosis | 1 | BeFree |
umls:C0003868 | Arthritis, Gouty | 1 | BeFree |
umls:C0004153 | Atherosclerosis | 1 | BeFree |
umls:C0007222 | Cardiovascular Diseases | 1 | BeFree |
umls:C0011853 | Diabetes Mellitus, Experimental | 1 | RGD |
umls:C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | BeFree,GAD |
umls:C0018099 | Gout | 1 | GAD |
umls:C0019693 | HIV Infections | 1 | BeFree |
umls:C0029456 | Osteoporosis | 1 | GAD |
umls:C0041107 | Trisomy | 1 | BeFree |
umls:C0042075 | Urologic Diseases | 1 | GAD |
umls:C0043167 | Pertussis | 1 | LHGDN |
umls:C0085548 | Autosomal Recessive Polycystic Kidney Disease | 1 | BeFree |
umls:C0085580 | Essential Hypertension | 1 | BeFree |
umls:C0221248 | Tophus | 1 | BeFree |
umls:C0238304 | Chronic interstitial nephritis | 1 | BeFree |
umls:C0282488 | Interstitial Cystitis | 1 | LHGDN |
umls:C0403553 | Renal dysplasia and retinal aplasia (disorder) | 1 | BeFree |
umls:C0431716 | Nephronophthisis - medullary cystic disease | 1 | BeFree |
umls:C1561535 | Creatinine finding | 1 | GAD |
umls:C1835934 | Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria | 1 | CLINVAR,CTD_human,UNIPROT |
umls:C1855681 | Nephronophthisis, familial juvenile | 1 | BeFree |
umls:C3665382 | 2,8-Dihydroxyadenine Urolithiasis | 1 | BeFree |