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| TissGeneSummary for TMEM67 |
 Gene summary |
| Basic gene information | Gene symbol | TMEM67 |
| Gene name | transmembrane protein 67 | |
| Synonyms | JBTS6|MECKELIN|MKS3|NPHP11|TNEM67 | |
| Cytomap | UCSC genome browser: 8q22.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001142301.1, NM_153704.5,NR_024522.1, | |
| Description | Meckelinmeckel syndrome type 3 protein | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 609884 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000164953 | ||
| HPRD : 11324 | ||
| Vega : OTTHUMG00000153119 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TMEM67 | |
| BioGPS: 91147 | ||
| Pathway | NCI Pathway Interaction Database: TMEM67 | |
| KEGG: TMEM67 | ||
| REACTOME: TMEM67 | ||
| Pathway Commons: TMEM67 | ||
| Context | iHOP: TMEM67 | |
| ligand binding site mutation search in PubMed: TMEM67 | ||
| UCL Cancer Institute: TMEM67 | ||
| 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) | Testis | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | TGCT | |
| Reference showing the relevant tissue of TMEM67 | ||
| Description by TissGene annotations | TissgsLTS | |
| * 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 TMEM67 |
| 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 |
| COAD | -0.283256321 | -1.557167859 | 1.273911538 | 2.24E-13 | 7.11E-12 |
| KICH | -1.488032936 | 0.387431064 | -1.875464 | 1.06E-08 | 5.63E-08 |
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| TissGene-miRNA for TMEM67 |
| 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 TMEM67 |
| TissGeneSNV for TMEM67 |
| 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.G125E | SKCM | 2 |
| p.R549C | STAD | 2 |
| p.P205S | SKCM | 2 |
| p.Y566C | UCEC | 1 |
| p.A123S | BRCA | 1 |
| p.G614A | LUAD | 1 |
| p.A10V | BLCA | 1 |
| p.Q605E | BLCA | 1 |
| p.S383C | LUAD | 1 |
| p.M11I | UCEC | 1 |
| p.E47* | LUAD | 1 |
| p.Q69H | BLCA | 1 |
| p.F589L | COAD | 1 |
| p.G786E | UCEC | 1 |
| p.A366D | MESO | 1 |
| p.S917R | SKCM | 1 |
| p.M554I | SKCM | 1 |
| p.A412V | COAD | 1 |
| p.K384N | BLCA | 1 |
| p.A2V | STAD | 1 |
| p.R4H | LUAD | 1 |
| p.V530L | LUAD | 1 |
| p.R608H | STAD | 1 |
| p.I339M | STAD | 1 |
| p.N318H | UCEC | 1 |
| p.E814K | HNSC | 1 |
| p.L940P | BLCA | 1 |
| p.N325K | SKCM | 1 |
| p.S630F | SKCM | 1 |
| p.D951N | BLCA | 1 |
| p.L310P | UCEC | 1 |
| p.Y733H | LUAD | 1 |
| p.R172Q | LUSC | 1 |
| p.D898H | ESCA | 1 |
| p.A447V | LUAD | 1 |
| p.G657S | SKCM | 1 |
| p.G215V | ESCA | 1 |
| p.H473Y | UCEC | 1 |
| p.V448I | LIHC | 1 |
| p.S61W | HNSC | 1 |
| p.D301G | LGG | 1 |
| p.S508Y | UCEC | 1 |
| p.G125R | SKCM | 1 |
| p.Q968E | SARC | 1 |
| p.E912* | BLCA | 1 |
| p.L310F | STAD | 1 |
| p.E224Q | BRCA | 1 |
| p.G8V | LUAD | 1 |
| p.L540I | UCEC | 1 |
| p.N79S | OV | 1 |
| p.S369L | STAD | 1 |
| p.S288L | SKCM | 1 |
| p.G269* | UCEC | 1 |
| p.L816V | COAD | 1 |
| p.R764* | UCEC | 1 |
| p.P601T | BLCA | 1 |
| p.M252V | UCS | 1 |
| p.I604V | COAD | 1 |
| p.L902H | STAD | 1 |
| p.A937V | SARC | 1 |
| p.I410F | KIRP | 1 |
| p.R992K | SKCM | 1 |
| p.G744E | PRAD | 1 |
| p.I775T | UCEC | 1 |
| p.S181C | LUAD | 1 |
| p.G456E | BLCA | 1 |
| p.R463Q | HNSC | 1 |
| p.C246F | LUAD | 1 |
| p.R74Q | BLCA | 1 |
| p.F590I | UCEC | 1 |
| p.Q681X | SKCM | 1 |
| p.I131V | BLCA | 1 |
| p.N854K | LUSC | 1 |
| p.N251T | KIRP | 1 |
| p.F750L | UCEC | 1 |
| p.Q681* | SKCM | 1 |
| p.F563L | UCEC | 1 |
| p.W677L | ACC | 1 |
| p.S369L | SKCM | 1 |
| p.A535P | KIRP | 1 |
| p.N405K | COAD | 1 |
| p.G646E | SKCM | 1 |
| p.S159Y | UCEC | 1 |
| p.S433F | SKCM | 1 |
| p.R74Q | LUAD | 1 |
| p.D893G | LIHC | 1 |
| p.T611S | BLCA | 1 |
| p.P664T | THCA | 1 |
| p.L945P | LIHC | 1 |
| p.L994S | HNSC | 1 |
| p.R764* | SKCM | 1 |
| p.N342I | LUAD | 1 |
| p.S728I | UCEC | 1 |
| p.F880V | UCEC | 1 |
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| TissGeneCNV for TMEM67 |
| 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 TMEM67 |
| 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 | BG988244 | HNRNPD-TMEM67 | chr4:83275470 | chr8:94828925 | |
| Chimerdb3.0 | FusionScan | ESCA | TCGA-2H-A9GG-01A | PVT1-TMEM67 | 5'UTR-5'UTR | chr8:128806980 | chr8:94807636 |
| Chimerdb3.0 | FusionScan | ESCA | TCGA-2H-A9GG-01A | PVT1-TMEM67 | 5'UTR-5'UTR | chr8:128806980 | chr8:94808128 |
| TCGAfusionPortal | PRADA | GBM | TCGA-06-0178-01A | AGAP2-TMEM67 | In-frame | Chr12:58123422 | Chr8:94827533 |
| TCGAfusionPortal | PRADA | LUAD | TCGA-78-7145-01A | TMEM67-STMN2 | In-frame | Chr8:94815912 | Chr8:80577050 |
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| TissGeneNet for TMEM67 |
| 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) |
| TMEM67, HDAC9, MKS1 (tumor) | TMEM67, HDAC9, MKS1 (normal) |
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| COAD (tumor) | COAD (normal) |
| TMEM67, HDAC9, MKS1 (tumor) | TMEM67, HDAC9, MKS1 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| TMEM67, HDAC9, MKS1 (tumor) | TMEM67, HDAC9, MKS1 (normal) |
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| KICH (tumor) | KICH (normal) |
| TMEM67, HDAC9, MKS1 (tumor) | TMEM67, HDAC9, MKS1 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| TMEM67, HDAC9, MKS1 (tumor) | TMEM67, HDAC9, MKS1 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| TMEM67, HDAC9, MKS1 (tumor) | TMEM67, HDAC9, MKS1 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| TMEM67, HDAC9, MKS1 (tumor) | TMEM67, HDAC9, MKS1 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| TMEM67, HDAC9, MKS1 (tumor) | TMEM67, HDAC9, MKS1 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| TMEM67, HDAC9, MKS1 (tumor) | TMEM67, HDAC9, MKS1 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| TMEM67, HDAC9, MKS1 (tumor) | TMEM67, HDAC9, MKS1 (normal) |
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| STAD (tumor) | STAD (normal) |
| TMEM67, HDAC9, MKS1 (tumor) | TMEM67, HDAC9, MKS1 (normal) |
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| THCA (tumor) | THCA (normal) |
| TMEM67, HDAC9, MKS1 (tumor) | TMEM67, HDAC9, MKS1 (normal) |
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| TissGeneProg for TMEM67 |
| 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 TMEM67 |
| TissGeneDrug for TMEM67 |
| 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 TMEM67 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C3714506 | Meckel syndrome type 1 | 10 | BeFree,GAD |
| umls:C0265215 | Meckel-Gruber syndrome | 7 | BeFree,CLINVAR,ORPHANET |
| umls:C0431399 | Familial aplasia of the vermis | 6 | BeFree,CLINVAR |
| umls:C1846357 | Meckel syndrome type 3 | 6 | BeFree,CLINVAR,CTD_human,MGD,UNIPROT |
| umls:C1857662 | COACH syndrome | 5 | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C0022680 | Polycystic Kidney Diseases | 3 | BeFree |
| umls:C0687120 | Nephronophthisis | 3 | BeFree |
| umls:C1853153 | JOUBERT SYNDROME 6 | 3 | CLINVAR,CTD_human,MGD,UNIPROT |
| umls:C0085548 | Autosomal Recessive Polycystic Kidney Disease | 2 | BeFree |
| umls:C0152427 | Polydactyly | 2 | BeFree,LHGDN |
| umls:C0239946 | Fibrosis, Liver | 2 | BeFree |
| umls:C1691228 | Cystic Kidney Diseases | 2 | BeFree,CTD_human |
| umls:C3150796 | NEPHRONOPHTHISIS 11 | 2 | CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C0000768 | Congenital Abnormality | 1 | BeFree |
| umls:C0009714 | Hepatic Fibrosis, Congenital | 1 | BeFree |
| umls:C0014065 | Congenital cerebral hernia | 1 | BeFree |
| umls:C0018802 | Congestive heart failure | 1 | BeFree |
| umls:C0020255 | Hydrocephalus | 1 | BeFree |
| umls:C0023890 | Liver Cirrhosis | 1 | CTD_human |
| umls:C0023895 | Liver diseases | 1 | BeFree |
| umls:C0271270 | Oculovestibuloauditory syndrome | 1 | BeFree |
| umls:C0752166 | Bardet-Biedl Syndrome | 1 | BeFree,CTD_human,LHGDN |
| umls:C1535939 | Pneumocystis jiroveci pneumonia | 1 | BeFree |
| umls:C3489733 | Oculomotor apraxia | 1 | BeFree |
| umls:C3149841 | POLYCYSTIC KIDNEY DISEASE 1 | 0 | MGD |
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