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| TissGeneSummary for MMEL1 |
 Gene summary |
| Basic gene information | Gene symbol | MMEL1 |
| Gene name | membrane metallo-endopeptidase-like 1 | |
| Synonyms | MMEL2|NEP2|NEPII|NL1|NL2|SEP | |
| Cytomap | UCSC genome browser: 1p36 | |
| Type of gene | protein-coding | |
| RefGenes | NM_033467.3, | |
| Description | NEP2(m)membrane metallo-endopeptidase-like 2neprilysin IIneprilysin-2soluble secreted endopeptidasezinc metallopeptidase | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000142606 | ||
| HPRD : 07024 | ||
| Vega : OTTHUMG00000000846 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MMEL1 | |
| BioGPS: 79258 | ||
| Pathway | NCI Pathway Interaction Database: MMEL1 | |
| KEGG: MMEL1 | ||
| REACTOME: MMEL1 | ||
| Pathway Commons: MMEL1 | ||
| Context | iHOP: MMEL1 | |
| ligand binding site mutation search in PubMed: MMEL1 | ||
| UCL Cancer Institute: MMEL1 | ||
| 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) | OvaryTestis | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | OVTGCT | |
| Reference showing the relevant tissue of MMEL1 | ||
| Description by TissGene annotations | 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 MMEL1 |
| 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 | -2.982946916 | -1.113049694 | -1.869897222 | 8.46E-16 | 4.50E-15 |
| HNSC | -2.424491909 | -1.047219816 | -1.377272093 | 4.86E-06 | 3.03E-05 |
| THCA | -2.388298728 | 0.00564195 | -2.393940678 | 1.89E-13 | 1.91E-12 |
| LUSC | -1.924879187 | -0.019788991 | -1.905090196 | 4.34E-11 | 1.69E-10 |
| LUAD | -1.405223305 | -0.396190546 | -1.009032759 | 0.000258 | 0.000610437 |
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| TissGene-miRNA for MMEL1 |
| 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 MMEL1 |
| TissGeneSNV for MMEL1 |
| 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.E208K | SKCM | 3 |
| p.E199K | SKCM | 3 |
| p.M281V | LIHC | 2 |
| p.S245R | THYM | 1 |
| p.I239M | SKCM | 1 |
| p.P179S | UCEC | 1 |
| p.V740I | PAAD | 1 |
| p.Y389D | UCEC | 1 |
| p.T348I | SKCM | 1 |
| p.P188S | UCEC | 1 |
| p.P92S | ESCA | 1 |
| p.S551N | CESC | 1 |
| p.A193V | HNSC | 1 |
| p.G267C | COAD | 1 |
| p.K465E | CESC | 1 |
| p.S216* | LUAD | 1 |
| p.F574L | COAD | 1 |
| p.L350I | LUAD | 1 |
| p.T170M | HNSC | 1 |
| p.Q542X | STAD | 1 |
| p.S225* | LUAD | 1 |
| p.E765K | SKCM | 1 |
| p.D701Y | HNSC | 1 |
| p.M272V | LIHC | 1 |
| p.Q498H | LUAD | 1 |
| p.S532L | BLCA | 1 |
| p.A501V | STAD | 1 |
| p.E688Q | BLCA | 1 |
| p.E588K | SKCM | 1 |
| p.M509I | SKCM | 1 |
| p.R419X | LGG | 1 |
| p.W123* | BLCA | 1 |
| p.Q178E | HNSC | 1 |
| p.E667K | SKCM | 1 |
| p.Y718N | LUAD | 1 |
| p.P729L | SKCM | 1 |
| p.Q694H | BLCA | 1 |
| p.L403Q | LUSC | 1 |
| p.T161M | HNSC | 1 |
| p.D360Y | KIRC | 1 |
| p.R645W | SKCM | 1 |
| p.E597K | SKCM | 1 |
| p.R426C | UCEC | 1 |
| p.Q549L | STAD | 1 |
| p.R126H | COAD | 1 |
| p.P585L | SKCM | 1 |
| p.E101Q | LUAD | 1 |
| p.D692Y | HNSC | 1 |
| p.E131K | UCS | 1 |
| p.S523L | BLCA | 1 |
| p.V231A | LIHC | 1 |
| p.V128M | COAD | 1 |
| p.R410* | LGG | 1 |
| p.G348E | SKCM | 1 |
| p.R271Q | CESC | 1 |
| p.M651I | PAAD | 1 |
| p.R252* | BLCA | 1 |
| p.V201I | CESC | 1 |
| p.A441S | LUAD | 1 |
| p.E640K | CESC | 1 |
| p.E122K | UCS | 1 |
| p.R173C | UCS | 1 |
| p.P98L | BLCA | 1 |
| p.L350V | KIRC | 1 |
| p.E649K | CESC | 1 |
| p.Q540L | STAD | 1 |
| p.Y254* | SKCM | 1 |
| p.Q686K | GBM | 1 |
| p.E640G | KIRC | 1 |
| p.D739N | SKCM | 1 |
| p.R766* | LGG | 1 |
| p.D104N | KIRC | 1 |
| p.R289W | DLBC | 1 |
| p.L35V | KIRP | 1 |
| p.R21L | KIRP | 1 |
| p.R262Q | CESC | 1 |
| p.E122Q | HNSC | 1 |
| p.V210I | CESC | 1 |
| p.R775* | STAD | 1 |
| p.Y263X | SKCM | 1 |
| p.G113V | LUAD | 1 |
| p.D131N | SKCM | 1 |
| p.W114* | BLCA | 1 |
| p.E204Q | UCS | 1 |
| p.R164C | UCS | 1 |
| p.G188R | LUAD | 1 |
| p.D140N | SKCM | 1 |
| p.L359V | KIRC | 1 |
| p.E688Q | HNSC | 1 |
| p.T641N | UCEC | 1 |
| p.V731I | PAAD | 1 |
| p.R428H | PAAD | 1 |
| p.P720L | SKCM | 1 |
| p.G725R | STAD | 1 |
| p.T473M | STAD | 1 |
| p.R126C | STAD | 1 |
| p.L546I | LGG | 1 |
| p.R757Q | ACC | 1 |
| p.D152N | SKCM | 1 |
| p.T357I | SKCM | 1 |
| p.E697Q | HNSC | 1 |
| p.E213Q | UCS | 1 |
| p.Q507H | LUAD | 1 |
| p.A497V | GBM | 1 |
| p.R57H | COAD | 1 |
| p.R476W | STAD | 1 |
| p.T482M | STAD | 1 |
| p.P83S | ESCA | 1 |
| p.W229* | SKCM | 1 |
| p.R636W | SKCM | 1 |
| p.P576L | SKCM | 1 |
| p.R117C | STAD | 1 |
| p.M518I | SKCM | 1 |
| p.D730N | SKCM | 1 |
| p.Q542* | STAD | 1 |
| p.R435C | UCEC | 1 |
| p.E482K | CESC | 1 |
| p.D113N | KIRC | 1 |
| p.K737N | LUSC | 1 |
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| TissGeneCNV for MMEL1 |
| 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 MMEL1 |
| 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 | AA676612 | MMEL1-KIF1B | chr1:2562536 | chr1:10436659 | |
| TCGAfusionPortal | PRADA | BRCA | TCGA-E9-A1RB-01A | MAST2-MMEL1 | Out-of-frame | Chr1:46493535 | Chr1:2543643 |
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| TissGeneNet for MMEL1 |
| 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 MMEL1 |
| 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 MMEL1 |
| TissGeneDrug for MMEL1 |
| 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 MMEL1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0003873 | Rheumatoid Arthritis | 9 | BeFree,CTD_human,GAD,GWASCAT |
| umls:C0002395 | Alzheimer's Disease | 2 | BeFree |
| umls:C0026769 | Multiple Sclerosis | 2 | BeFree |
| umls:C0002622 | Amnesia | 1 | BeFree |
| umls:C0007570 | Celiac Disease | 1 | GAD,GWASCAT |
| umls:C0008312 | Primary biliary cirrhosis | 1 | BeFree,ORPHANET |
| umls:C0011847 | Diabetes | 1 | BeFree |
| umls:C0011849 | Diabetes Mellitus | 1 | BeFree |
| umls:C0023892 | Biliary cirrhosis | 1 | CTD_human,GAD |
| umls:C0027066 | Myoclonus | 1 | BeFree |
| umls:C0376358 | Malignant neoplasm of prostate | 1 | BeFree |
| umls:C0600139 | Prostate carcinoma | 1 | BeFree |
| umls:C0751295 | Memory Loss | 1 | BeFree |
| umls:C0751785 | Unverricht-Lundborg Syndrome | 1 | BeFree |
| umls:C1270972 | Mild cognitive disorder | 1 | BeFree |
| umls:C3495559 | Juvenile arthritis | 1 | GAD |
| umls:C0859942 | Hanot's cirrhosis | 0 | ORPHANET |
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