TissGeneSummary for C12orf40 |
Gene summary |
Basic gene information | Gene symbol | C12orf40 |
Gene name | chromosome 12 open reading frame 40 | |
Synonyms | HEL-206 | |
Cytomap | UCSC genome browser: 12q12 | |
Type of gene | protein-coding | |
RefGenes | NM_173599.1, NM_001031748.2, | |
Description | epididymis luminal protein 206uncharacterized protein C12orf40 | |
Modification date | 20141207 | |
dbXrefs | HGNC : HGNC | |
Ensembl : ENSG00000180116 | ||
HPRD : 08806 | ||
Vega : OTTHUMG00000133567 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_C12orf40 | |
BioGPS: 283461 | ||
Pathway | NCI Pathway Interaction Database: C12orf40 | |
KEGG: C12orf40 | ||
REACTOME: C12orf40 | ||
Pathway Commons: C12orf40 | ||
Context | iHOP: C12orf40 | |
ligand binding site mutation search in PubMed: C12orf40 | ||
UCL Cancer Institute: C12orf40 | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | ||
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 C12orf40 | ||
Description by TissGene annotations | TissgsKTS CNV gained TissGeneKTS |
* 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 |
Top |
TissGeneExp for C12orf40 |
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) |
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) |
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. |
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) |
- 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 |
Top |
TissGene-miRNA for C12orf40 |
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 |
Top |
TissGeneMut for C12orf40 |
TissGeneSNV for C12orf40 |
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. |
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) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.E522K | SKCM | 5 |
p.M524I | SKCM | 2 |
p.E435K | SKCM | 2 |
p.R539K | SKCM | 2 |
p.D583N | SKCM | 2 |
p.S360L | UCEC | 1 |
p.S459Y | COAD | 1 |
p.K121N | BLCA | 1 |
p.C331F | LUAD | 1 |
p.L616I | KIRC | 1 |
p.K546E | SKCM | 1 |
p.D252N | SARC | 1 |
p.F224V | BRCA | 1 |
p.N339T | BLCA | 1 |
p.C148Y | LUSC | 1 |
p.V100A | UCEC | 1 |
p.D545N | LUAD | 1 |
p.D133N | SKCM | 1 |
p.R219Q | SKCM | 1 |
p.T222A | SKCM | 1 |
p.T74N | LUAD | 1 |
p.D615N | BRCA | 1 |
p.C571G | OV | 1 |
p.N295T | HNSC | 1 |
p.R117I | READ | 1 |
p.T171I | BRCA | 1 |
p.T193I | LUAD | 1 |
p.S618L | SKCM | 1 |
p.S199F | SKCM | 1 |
p.R386T | BLCA | 1 |
p.L291R | ESCA | 1 |
p.G231E | SKCM | 1 |
p.R191C | ESCA | 1 |
p.S507L | SKCM | 1 |
p.A574S | LUSC | 1 |
p.D489Y | UCEC | 1 |
p.S48I | SARC | 1 |
p.N114H | UCEC | 1 |
p.E647K | UCEC | 1 |
p.E312* | LUAD | 1 |
p.K316Q | READ | 1 |
p.D544N | COAD | 1 |
p.T643N | LUAD | 1 |
p.T237N | UCEC | 1 |
p.S61F | SKCM | 1 |
p.S172T | DLBC | 1 |
p.C331R | LUAD | 1 |
p.G274E | SKCM | 1 |
p.M95I | UCEC | 1 |
p.N562D | GBM | 1 |
p.M78I | GBM | 1 |
p.Q378H | UCEC | 1 |
p.S500F | UCEC | 1 |
p.G455E | SKCM | 1 |
p.D396N | SKCM | 1 |
p.L181R | STAD | 1 |
p.R191C | UCEC | 1 |
p.E414D | UCEC | 1 |
p.P433S | SKCM | 1 |
p.R163K | UCEC | 1 |
p.I506K | HNSC | 1 |
p.K364E | LUAD | 1 |
p.S9F | SKCM | 1 |
p.K216T | PAAD | 1 |
p.E403K | LUAD | 1 |
p.Y259C | TGCT | 1 |
p.K375R | LUSC | 1 |
p.M95L | SKCM | 1 |
p.R314K | SKCM | 1 |
p.Q505E | BLCA | 1 |
p.Q613R | GBM | 1 |
p.R464Q | UCEC | 1 |
p.C105F | ESCA | 1 |
p.D448H | HNSC | 1 |
p.T217I | OV | 1 |
p.T342P | SKCM | 1 |
p.D258N | SKCM | 1 |
p.H575L | LUAD | 1 |
p.S434L | OV | 1 |
p.R191_splice | UCEC | 1 |
p.D81Y | UCEC | 1 |
p.L291I | BLCA | 1 |
p.S293* | BLCA | 1 |
p.L362F | CESC | 1 |
p.Y259N | LUSC | 1 |
p.R464* | PRAD | 1 |
p.S172Y | UCEC | 1 |
p.N410D | STAD | 1 |
p.P67L | SKCM | 1 |
p.I305V | SKCM | 1 |
p.D258N | READ | 1 |
p.N290K | BRCA | 1 |
p.N285K | OV | 1 |
p.L181P | STAD | 1 |
p.P425S | COAD | 1 |
p.C148* | LGG | 1 |
p.I346V | LUAD | 1 |
p.P240T | LUAD | 1 |
p.D615N | SKCM | 1 |
p.D258N | LUAD | 1 |
p.S602Y | UCEC | 1 |
p.N526T | UCEC | 1 |
p.Q302K | HNSC | 1 |
p.S490I | SARC | 1 |
p.Q141R | HNSC | 1 |
p.R539T | BLCA | 1 |
p.E276K | SKCM | 1 |
p.E436K | UCEC | 1 |
p.D388N | SKCM | 1 |
p.E552D | UCEC | 1 |
p.D473H | LUAD | 1 |
p.S536L | CESC | 1 |
p.N630T | GBM | 1 |
p.N431K | UCEC | 1 |
p.C62S | BLCA | 1 |
p.S366I | OV | 1 |
p.G271W | LIHC | 1 |
p.L39V | COAD | 1 |
p.M327K | LUAD | 1 |
p.M137K | KIRC | 1 |
p.D50H | BLCA | 1 |
p.P567Q | LUSC | 1 |
p.G430E | SKCM | 1 |
p.E606K | SKCM | 1 |
p.E369A | OV | 1 |
p.M327I | LUAD | 1 |
Top |
TissGeneCNV for C12orf40 |
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) |
Top |
TissGeneFusions for C12orf40 |
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 | AA136914 | IRS1-C12orf40 | chr2:227600969 | chr12:40099483 | |
Chimerdb3.0 | ChiTaRs | NA | BE709559 | C12orf40-VTI1B | chr12:40065702 | chr14:68133117 |
Top |
TissGeneNet for C12orf40 |
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) |
Top |
TissGeneProg for C12orf40 |
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. |
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. |
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. |
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. |
Top |
TissGeneClin for C12orf40 |
TissGeneDrug for C12orf40 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
TissGeneDisease for C12orf40 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |