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| TissGeneSummary for NDP |
 Gene summary |
| Basic gene information | Gene symbol | NDP |
| Gene name | Norrie disease (pseudoglioma) | |
| Synonyms | EVR2|FEVR|ND | |
| Cytomap | UCSC genome browser: Xp11.4 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000266.3, | |
| Description | X-linked exudative vitreoretinopathy 2 proteinnorrie disease proteinnorrin | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 300658 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000124479 | ||
| HPRD : 02404 | ||
| Vega : OTTHUMG00000021391 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NDP | |
| BioGPS: 4693 | ||
| Pathway | NCI Pathway Interaction Database: NDP | |
| KEGG: NDP | ||
| REACTOME: NDP | ||
| Pathway Commons: NDP | ||
| Context | iHOP: NDP | |
| ligand binding site mutation search in PubMed: NDP | ||
| UCL Cancer Institute: NDP | ||
| 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) | OvaryUterus | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | OVUCEC,UCS | |
| Reference showing the relevant tissue of NDP | ||
| 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:0016055 | Wnt signaling pathway | 17955262 | GO:0045893 | positive regulation of transcription, DNA-templated | 15035989 | GO:0060070 | canonical Wnt signaling pathway | 15035989 | GO:0016055 | Wnt signaling pathway | 17955262 | GO:0045893 | positive regulation of transcription, DNA-templated | 15035989 | GO:0060070 | canonical Wnt signaling pathway | 15035989 |
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| TissGeneExp for NDP |
| 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 |
| PRAD | 2.081121677 | 3.914590908 | -1.833469231 | 1.31E-11 | 4.08E-10 |
| LUAD | -0.13673197 | -1.424535418 | 1.287803448 | 0.000126 | 0.000313324 |
| KIRP | -2.447983371 | -1.321895871 | -1.1260875 | 6.96E-05 | 0.00024927 |
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| TissGene-miRNA for NDP |
| 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 NDP |
| TissGeneSNV for NDP |
| 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.R121L | CESC | 1 |
| p.C96X | ESCA | 1 |
| p.G112E | SKCM | 1 |
| p.R90H | DLBC | 1 |
| p.A7G | UCEC | 1 |
| p.V17M | HNSC | 1 |
| p.S47Y | UCEC | 1 |
| p.R109Q | LUAD | 1 |
| p.E76K | UCEC | 1 |
| p.Y44C | LUAD | 1 |
| p.Y53C | PAAD | 1 |
| p.D35N | LUAD | 1 |
| p.S34W | TGCT | 1 |
| p.R107L | LUSC | 1 |
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| TissGeneCNV for NDP |
| 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 NDP |
| 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 | BI601719 | NDP-SLC25A46 | chrX:43832897 | chr5:110075056 |
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| TissGeneNet for NDP |
| 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) |
| NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (tumor) | NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (normal) |
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| COAD (tumor) | COAD (normal) |
| NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (tumor) | NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (tumor) | NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (normal) |
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| KICH (tumor) | KICH (normal) |
| NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (tumor) | NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (tumor) | NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (tumor) | NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (tumor) | NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (tumor) | NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (tumor) | NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (tumor) | NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (normal) |
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| STAD (tumor) | STAD (normal) |
| NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (tumor) | NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (normal) |
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| THCA (tumor) | THCA (normal) |
| NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (tumor) | NDP, PPP1CA, LGALS8, LRP5, FZD4, TSPAN12 (normal) |
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| TissGeneProg for NDP |
| 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 NDP |
| TissGeneDrug for NDP |
| 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 NDP |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0266526 | Norrie disease | 44 | BeFree,CLINVAR,CTD_human,GAD,MGD,ORPHANET,UNIPROT |
| umls:C0339539 | Familial Exudative Vitreoretinopathy | 14 | BeFree,ORPHANET |
| umls:C1844579 | Exudative Vitreoretinopathy, Familial, X-Linked Recessive | 9 | BeFree,CLINVAR,CTD_human,MGD,UNIPROT |
| umls:C0035344 | Retinopathy of Prematurity | 7 | BeFree,GAD,LHGDN,ORPHANET |
| umls:C0035309 | Retinal Diseases | 3 | BeFree,GAD |
| umls:C0154832 | Exudative retinopathy | 3 | BeFree,ORPHANET |
| umls:C0006142 | Malignant neoplasm of breast | 1 | BeFree |
| umls:C0009404 | Colorectal Neoplasms | 1 | BeFree |
| umls:C0011253 | Delusions | 1 | BeFree |
| umls:C0018524 | Hallucinations | 1 | BeFree |
| umls:C0025958 | Microcephaly | 1 | BeFree |
| umls:C0026764 | Multiple Myeloma | 1 | BeFree |
| umls:C0027686 | Pathologic Neovascularization | 1 | LHGDN |
| umls:C0036341 | Schizophrenia | 1 | BeFree |
| umls:C0037769 | West Syndrome | 1 | BeFree,LHGDN |
| umls:C0039446 | Telangiectasis | 1 | BeFree |
| umls:C0339383 | Choroidal and/or chorioretinal disorder | 1 | BeFree |
| umls:C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | 1 | BeFree |
| umls:C0678222 | Breast Carcinoma | 1 | BeFree |
| umls:C1535926 | Neurodevelopmental Disorders | 1 | BeFree |
| umls:C2239176 | Liver carcinoma | 1 | BeFree |
| umls:C0266568 | Persistent Hyperplastic Primary Vitreous | 0 | ORPHANET |
| umls:C1851402 | Exudative vitreoretinopathy 1 | 0 | ORPHANET |
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