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| TissGeneSummary for NEFH |
 Gene summary |
| Basic gene information | Gene symbol | NEFH |
| Gene name | neurofilament, heavy polypeptide | |
| Synonyms | NFH | |
| Cytomap | UCSC genome browser: 22q12.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_021076.3, | |
| Description | 200 kDa neurofilament proteinNF-Hneurofilament heavy polypeptideneurofilament triplet H proteinneurofilament, heavy polypeptide 200kDa | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 162230 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000100285 | ||
| HPRD : 01204 | ||
| Vega : OTTHUMG00000151155 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NEFH | |
| BioGPS: 4744 | ||
| Pathway | NCI Pathway Interaction Database: NEFH | |
| KEGG: NEFH | ||
| REACTOME: NEFH | ||
| Pathway Commons: NEFH | ||
| Context | iHOP: NEFH | |
| ligand binding site mutation search in PubMed: NEFH | ||
| UCL Cancer Institute: NEFH | ||
| Assigned class in TissGDB* | B | |
| Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Prostate | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | PRAD | |
| Reference showing the relevant tissue of NEFH | ||
| Description by TissGene annotations | Cancer gene | |
| * 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 NEFH |
| 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 | -0.931212687 | 0.101533146 | -1.032745833 | 1.88E-08 | 5.55E-08 |
| COAD | -1.779558948 | -0.000701255 | -1.778857692 | 1.88E-07 | 1.26E-06 |
| KICH | -1.441821409 | -0.376613409 | -1.065208 | 0.0171 | 0.029306687 |
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| TissGene-miRNA for NEFH |
| 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 NEFH |
| TissGeneSNV for NEFH |
| 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.E645K | COAD | 15 |
| p.E645K | READ | 8 |
| p.E645K | KIRP | 7 |
| p.A672E | KIRC | 5 |
| p.V670E | TGCT | 2 |
| p.M378I | LUAD | 1 |
| p.E644K | SKCM | 1 |
| p.A686E | UCEC | 1 |
| p.E398X | READ | 1 |
| p.P911T | GBM | 1 |
| p.P663S | LUSC | 1 |
| p.W376X | SKCM | 1 |
| p.P533A | LUAD | 1 |
| p.E331K | CESC | 1 |
| p.K647T | STAD | 1 |
| p.G497E | SKCM | 1 |
| p.S752F | SKCM | 1 |
| p.E570K | HNSC | 1 |
| p.S313* | LUAD | 1 |
| p.V446L | STAD | 1 |
| p.K695M | STAD | 1 |
| p.E797K | BLCA | 1 |
| p.S606Y | LIHC | 1 |
| p.D1004Y | READ | 1 |
| p.E645K | SKCM | 1 |
| p.E734K | BRCA | 1 |
| p.P691S | SKCM | 1 |
| p.D978Y | UCS | 1 |
| p.T308I | HNSC | 1 |
| p.E811K | SKCM | 1 |
| p.S301L | ESCA | 1 |
| p.G414S | STAD | 1 |
| p.P677S | SKCM | 1 |
| p.G83R | UCS | 1 |
| p.A1016D | LIHC | 1 |
| p.S440R | ESCA | 1 |
| p.E459K | SKCM | 1 |
| p.A394V | STAD | 1 |
| p.A528P | CESC | 1 |
| p.R383Q | SKCM | 1 |
| p.P838S | STAD | 1 |
| p.T642M | SKCM | 1 |
| p.E556K | SKCM | 1 |
| p.R412Q | SARC | 1 |
| p.P733T | LUAD | 1 |
| p.E469* | UCEC | 1 |
| p.P615L | COAD | 1 |
| p.A564T | SKCM | 1 |
| p.E915K | SKCM | 1 |
| p.G497R | SKCM | 1 |
| p.K336E | COAD | 1 |
| p.R323H | ESCA | 1 |
| p.K437N | UCEC | 1 |
| p.R412Q | LUAD | 1 |
| p.P906Q | LUAD | 1 |
| p.P419S | UCEC | 1 |
| p.K609N | STAD | 1 |
| p.E700K | SKCM | 1 |
| p.K653N | LIHC | 1 |
| p.L389I | SKCM | 1 |
| p.E543K | COAD | 1 |
| p.D858N | SKCM | 1 |
| p.A672E | TGCT | 1 |
| p.E463K | COAD | 1 |
| p.V446L | BLCA | 1 |
| p.T374A | LUAD | 1 |
| p.P621T | STAD | 1 |
| p.D779E | LUSC | 1 |
| p.K647N | LIHC | 1 |
| p.P823T | UCEC | 1 |
| p.A394V | PAAD | 1 |
| p.G496R | SKCM | 1 |
| p.D340N | SKCM | 1 |
| p.E543X | KIRC | 1 |
| p.L332V | LUAD | 1 |
| p.V670E | KIRP | 1 |
| p.K947N | BLCA | 1 |
| p.T732S | CHOL | 1 |
| p.E883K | UCEC | 1 |
| p.D356N | SARC | 1 |
| p.P677L | SKCM | 1 |
| p.A310T | STAD | 1 |
| p.E898K | CESC | 1 |
| p.T732S | THYM | 1 |
| p.W376* | SKCM | 1 |
| p.T732S | ESCA | 1 |
| p.V438M | SKCM | 1 |
| p.V740E | KIRP | 1 |
| p.E828K | BLCA | 1 |
| p.N307D | KIRC | 1 |
| p.E932K | SKCM | 1 |
| p.E966K | CESC | 1 |
| p.E868K | SKCM | 1 |
| p.E523K | SKCM | 1 |
| p.A564P | LUSC | 1 |
| p.E748D | UCEC | 1 |
| p.E543K | SKCM | 1 |
| p.E563D | HNSC | 1 |
| p.E813K | SKCM | 1 |
| p.K751N | UCEC | 1 |
| p.S704T | LUAD | 1 |
| p.E331Q | CESC | 1 |
| p.A799T | SKCM | 1 |
| p.E658K | SKCM | 1 |
| p.E909K | DLBC | 1 |
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| TissGeneCNV for NEFH |
| 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 NEFH |
| 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 | BM699050 | NEFH-NEFH | chr22:29886959 | chr22:29886044 | |
| Chimerdb3.0 | ChiTaRs | NA | AA425515 | NEFH-NEFH | chr22:29886097 | chr22:29877341 |
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| TissGeneNet for NEFH |
| 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) |
| NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (tumor) | NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (normal) |
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| COAD (tumor) | COAD (normal) |
| NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (tumor) | NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (tumor) | NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (normal) |
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| KICH (tumor) | KICH (normal) |
| NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (tumor) | NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (tumor) | NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (tumor) | NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (tumor) | NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (tumor) | NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (tumor) | NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (tumor) | NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (normal) |
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| STAD (tumor) | STAD (normal) |
| NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (tumor) | NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (normal) |
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| THCA (tumor) | THCA (normal) |
| NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (tumor) | NEFH, UBC, MAPK1, NEFM, STXBP1, NEFL, PKN1 (normal) |
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| TissGeneProg for NEFH |
| 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 NEFH |
| TissGeneDrug for NEFH |
| 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 NEFH |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0002736 | Amyotrophic Lateral Sclerosis | 6 | BeFree,LHGDN,ORPHANET |
| umls:C0029925 | Ovarian Carcinoma | 4 | BeFree |
| umls:C1140680 | Malignant neoplasm of ovary | 4 | BeFree |
| umls:C0085084 | Motor Neuron Disease | 3 | BeFree,GAD,LHGDN |
| umls:C0020538 | Hypertensive disease | 2 | BeFree |
| umls:C0149940 | Sciatic Neuropathy | 2 | RGD |
| umls:C0002395 | Alzheimer's Disease | 1 | BeFree |
| umls:C0007787 | Transient Ischemic Attack | 1 | RGD |
| umls:C0010308 | Congenital Hypothyroidism | 1 | RGD |
| umls:C0010823 | Cytomegalovirus Infections | 1 | BeFree |
| umls:C0011853 | Diabetes Mellitus, Experimental | 1 | RGD |
| umls:C0013080 | Down Syndrome | 1 | BeFree |
| umls:C0020676 | Hypothyroidism | 1 | RGD |
| umls:C0027765 | nervous system disorder | 1 | BeFree |
| umls:C0027832 | Neurofibromatosis 2 | 1 | BeFree |
| umls:C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| umls:C0031485 | Phenylketonurias | 1 | RGD |
| umls:C0036341 | Schizophrenia | 1 | GAD |
| umls:C0043020 | Wallerian Degeneration | 1 | RGD |
| umls:C0085580 | Essential Hypertension | 1 | BeFree |
| umls:C0234133 | Extrapyramidal sign | 1 | BeFree |
| umls:C0236642 | Pick Disease of the Brain | 1 | BeFree |
| umls:C0279626 | Squamous cell carcinoma of esophagus | 1 | BeFree |
| umls:C0338451 | Frontotemporal dementia | 1 | BeFree |
| umls:C0524851 | Neurodegenerative Disorders | 1 | BeFree,LHGDN |
| umls:C0677886 | Epithelial ovarian cancer | 1 | BeFree |
| umls:C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | BeFree,CTD_human |
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