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| TissGeneSummary for TKTL1 |
 Gene summary |
| Basic gene information | Gene symbol | TKTL1 |
| Gene name | transketolase-like 1 | |
| Synonyms | TKR|TKT2 | |
| Cytomap | UCSC genome browser: Xq28 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001145933.1, NM_001145934.1,NM_012253.3, | |
| Description | TK 2transketolase-2transketolase-like protein 1transketolase-related protein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 300044 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000007350 | ||
| HPRD : 02080 | ||
| Vega : OTTHUMG00000022707 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TKTL1 | |
| BioGPS: 8277 | ||
| Pathway | NCI Pathway Interaction Database: TKTL1 | |
| KEGG: TKTL1 | ||
| REACTOME: TKTL1 | ||
| Pathway Commons: TKTL1 | ||
| Context | iHOP: TKTL1 | |
| ligand binding site mutation search in PubMed: TKTL1 | ||
| UCL Cancer Institute: TKTL1 | ||
| 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) | Testis | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | TGCT | |
| Reference showing the relevant tissue of TKTL1 | Identification of genital tract markers in the human seminal plasma using an integrative genomics approach. Hum Reprod. 2013 Jan;28(1):199-209. doi: 10.1093/humrep/des360. Epub 2012 Sep 27. (pmid:23024119) 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 |
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| TissGeneExp for TKTL1 |
| 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 |
| LUAD | 0.05294599 | 1.461387369 | -1.408441379 | 3.00E-05 | 8.18E-05 |
| BRCA | -1.034562238 | 0.243185131 | -1.277747368 | 2.65E-24 | 2.50E-23 |
| LUSC | 0.299555151 | 1.562674759 | -1.263119608 | 0.00634 | 0.010429277 |
| KIRP | -0.498447545 | 0.56891808 | -1.067365625 | 4.87E-05 | 0.0001787 |
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| TissGene-miRNA for TKTL1 |
| 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 TKTL1 |
| TissGeneSNV for TKTL1 |
| 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.T254N | BLCA | 1 |
| p.I272V | STAD | 1 |
| p.K62E | SKCM | 1 |
| p.Q557* | BLCA | 1 |
| p.V310I | GBM | 1 |
| p.R369Q | STAD | 1 |
| p.D475E | SKCM | 1 |
| p.P262S | SKCM | 1 |
| p.G159* | UCEC | 1 |
| p.S322T | ESCA | 1 |
| p.W144* | UCEC | 1 |
| p.D315N | OV | 1 |
| p.R170C | COAD | 1 |
| p.H34Y | HNSC | 1 |
| p.M1I | BRCA | 1 |
| p.R529Q | UCEC | 1 |
| p.Q341R | BLCA | 1 |
| p.G377A | OV | 1 |
| p.R32Q | UCEC | 1 |
| p.C169Y | LUAD | 1 |
| p.A233V | THYM | 1 |
| p.G434E | SKCM | 1 |
| p.S41F | BLCA | 1 |
| p.S129P | LUAD | 1 |
| p.F62L | UCEC | 1 |
| p.T178I | COAD | 1 |
| p.S41Y | LUAD | 1 |
| p.S582G | STAD | 1 |
| p.V505I | UCEC | 1 |
| p.R355W | LUAD | 1 |
| p.P422T | LUAD | 1 |
| p.G159X | STAD | 1 |
| p.S130T | LUAD | 1 |
| p.K416N | LUAD | 1 |
| p.Y455C | LUAD | 1 |
| p.L247* | LUAD | 1 |
| p.G159* | STAD | 1 |
| p.Q174E | LUAD | 1 |
| p.V516I | KICH | 1 |
| p.R79Q | UCEC | 1 |
| p.R445Q | UCEC | 1 |
| p.S43N | OV | 1 |
| p.V346M | STAD | 1 |
| p.G162D | UCEC | 1 |
| p.D126V | STAD | 1 |
| p.P256S | SKCM | 1 |
| p.C169Y | HNSC | 1 |
| p.E527D | LUSC | 1 |
| p.S352F | LUAD | 1 |
| p.R529W | STAD | 1 |
| p.I587L | LIHC | 1 |
| p.S53Y | BRCA | 1 |
| p.D469E | SKCM | 1 |
| p.D475Y | HNSC | 1 |
| p.G101R | LGG | 1 |
| p.L348M | UCEC | 1 |
| p.H160D | HNSC | 1 |
| p.G94E | STAD | 1 |
| p.K208* | BLCA | 1 |
| p.A299T | COAD | 1 |
| p.E5K | CESC | 1 |
| p.R7T | KIRC | 1 |
| p.A2V | HNSC | 1 |
| p.K68E | SKCM | 1 |
| p.V59M | STAD | 1 |
| p.A493V | LIHC | 1 |
| p.R448* | LUAD | 1 |
| p.R292W | BLCA | 1 |
| p.D17N | CESC | 1 |
| p.D154H | BLCA | 1 |
| p.G101V | SARC | 1 |
| p.A6V | STAD | 1 |
| p.E128D | LUAD | 1 |
| p.A2V | STAD | 1 |
| p.A409S | SARC | 1 |
| p.E226* | TGCT | 1 |
| p.Y144D | LUAD | 1 |
| p.P260T | LUAD | 1 |
| p.V285F | OV | 1 |
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| TissGeneCNV for TKTL1 |
| 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 TKTL1 |
| 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 |
| TCGAfusionPortal | PRADA | LUAD | TCGA-55-A493-01A | PLXNA3-TKTL1 | In-frame | ChrX:153698954 | ChrX:153533656 |
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| TissGeneNet for TKTL1 |
| 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 TKTL1 |
| 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 TKTL1 |
| TissGeneDrug for TKTL1 |
| 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 TKTL1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0596263 | Carcinogenesis | 3 | BeFree |
| umls:C0009402 | Colorectal Carcinoma | 2 | BeFree |
| umls:C0024623 | Malignant neoplasm of stomach | 2 | BeFree |
| umls:C0027627 | Neoplasm Metastasis | 2 | BeFree |
| umls:C0521158 | Recurrent tumor | 2 | BeFree |
| umls:C0549473 | Thyroid carcinoma | 2 | BeFree |
| umls:C0699791 | Stomach Carcinoma | 2 | BeFree |
| umls:C1527249 | Colorectal Cancer | 2 | BeFree |
| umls:C0005699 | Blast Phase | 1 | BeFree |
| umls:C0006142 | Malignant neoplasm of breast | 1 | BeFree |
| umls:C0007115 | Malignant neoplasm of thyroid | 1 | BeFree |
| umls:C0007137 | Squamous cell carcinoma | 1 | BeFree |
| umls:C0007789 | Cerebral Palsy | 1 | BeFree |
| umls:C0007847 | Malignant tumor of cervix | 1 | BeFree |
| umls:C0010273 | Craniofacial Dysostosis | 1 | BeFree |
| umls:C0017636 | Glioblastoma | 1 | LHGDN |
| umls:C0018206 | granulosa cell tumor | 1 | LHGDN |
| umls:C0023267 | Fibroid Tumor | 1 | BeFree |
| umls:C0023473 | Myeloid Leukemia, Chronic | 1 | BeFree |
| umls:C0023903 | Liver neoplasms | 1 | BeFree |
| umls:C0024299 | Lymphoma | 1 | BeFree |
| umls:C0025202 | melanoma | 1 | BeFree |
| umls:C0038356 | Stomach Neoplasms | 1 | LHGDN |
| umls:C0040136 | Thyroid Neoplasm | 1 | LHGDN |
| umls:C0042133 | Uterine Fibroids | 1 | BeFree |
| umls:C0178874 | Tumor Progression | 1 | BeFree |
| umls:C0205851 | Germ cell tumor | 1 | BeFree |
| umls:C0238198 | Gastrointestinal Stromal Tumors | 1 | BeFree |
| umls:C0238463 | Papillary thyroid carcinoma | 1 | BeFree |
| umls:C0280100 | Solid tumour | 1 | BeFree |
| umls:C0302592 | Cervix carcinoma | 1 | BeFree |
| umls:C0334342 | Skin appendage adenoma | 1 | BeFree |
| umls:C0598935 | Tumor Initiation | 1 | BeFree |
| umls:C0678222 | Breast Carcinoma | 1 | BeFree |
| umls:C0686619 | Secondary malignant neoplasm of lymph node | 1 | BeFree |
| umls:C0796126 | AICARDI-GOUTIERES SYNDROME 1 | 1 | BeFree |
| umls:C1168401 | Squamous cell carcinoma of the head and neck | 1 | BeFree |
| umls:C1337013 | Differentiated Thyroid Gland Carcinoma | 1 | BeFree |
| umls:C1516170 | Cancer Cell Growth | 1 | BeFree |
| umls:C1520166 | Xenograft Model | 1 | BeFree |
| umls:C2239176 | Liver carcinoma | 1 | BeFree |
| umls:C2931196 | Craniofacial dysostosis type 1 | 1 | BeFree |
| umls:C2931822 | Nasopharyngeal carcinoma | 1 | BeFree |
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