TissGeneSummary for C12orf50 |
Gene summary |
Basic gene information | Gene symbol | C12orf50 |
Gene name | chromosome 12 open reading frame 50 | |
Synonyms | - | |
Cytomap | UCSC genome browser: 12q21.32 | |
Type of gene | protein-coding | |
RefGenes | NM_152589.1, | |
Description | uncharacterized protein C12orf50 | |
Modification date | 20141207 | |
dbXrefs | HGNC : HGNC | |
Ensembl : ENSG00000165805 | ||
HPRD : 08764 | ||
Vega : OTTHUMG00000169869 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_C12orf50 | |
BioGPS: 160419 | ||
Pathway | NCI Pathway Interaction Database: C12orf50 | |
KEGG: C12orf50 | ||
REACTOME: C12orf50 | ||
Pathway Commons: C12orf50 | ||
Context | iHOP: C12orf50 | |
ligand binding site mutation search in PubMed: C12orf50 | ||
UCL Cancer Institute: C12orf50 | ||
Assigned class in TissGDB* | B | |
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 C12orf50 | ||
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 C12orf50 |
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 |
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TissGene-miRNA for C12orf50 |
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 C12orf50 |
TissGeneSNV for C12orf50 |
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.E117K | SKCM | 3 |
p.E368K | SKCM | 3 |
p.R391Q | COAD | 2 |
p.R391Q | SKCM | 2 |
p.D213N | SKCM | 2 |
p.S244F | SKCM | 2 |
p.E124K | SKCM | 2 |
p.P251H | ACC | 1 |
p.A144P | KIRC | 1 |
p.H321Y | SKCM | 1 |
p.H321Y | BLCA | 1 |
p.V279M | UCEC | 1 |
p.E110K | SKCM | 1 |
p.G185A | LUSC | 1 |
p.D340N | SARC | 1 |
p.A329V | STAD | 1 |
p.H240Y | HNSC | 1 |
p.K50I | SKCM | 1 |
p.L66V | BLCA | 1 |
p.N348K | LUAD | 1 |
p.L373F | SKCM | 1 |
p.F284V | UCEC | 1 |
p.K104E | LGG | 1 |
p.S24R | UCEC | 1 |
p.S230* | BRCA | 1 |
p.K325I | STAD | 1 |
p.Q53* | OV | 1 |
p.Q49R | LUAD | 1 |
p.K228Q | STAD | 1 |
p.L170R | STAD | 1 |
p.D213N | UCEC | 1 |
p.E90D | UCEC | 1 |
p.I392T | SKCM | 1 |
p.R313K | SKCM | 1 |
p.R352G | HNSC | 1 |
p.T247A | THYM | 1 |
p.R327* | SKCM | 1 |
p.P350T | THYM | 1 |
p.E117G | LUSC | 1 |
p.M1I | SKCM | 1 |
p.K50N | SKCM | 1 |
p.H283Y | SKCM | 1 |
p.R33Q | SKCM | 1 |
p.R248* | HNSC | 1 |
p.E195Q | LUAD | 1 |
p.K280N | UCEC | 1 |
p.T168S | ESCA | 1 |
p.H240Y | CESC | 1 |
p.K281Q | ESCA | 1 |
p.A144E | COAD | 1 |
p.D200N | BLCA | 1 |
p.R74X | COAD | 1 |
p.P106T | ESCA | 1 |
p.D385N | SKCM | 1 |
p.Q306R | COAD | 1 |
p.P350L | SKCM | 1 |
p.P57L | SKCM | 1 |
p.T253M | SKCM | 1 |
p.P241T | ESCA | 1 |
p.S303Y | PAAD | 1 |
p.T379M | STAD | 1 |
p.S359F | SKCM | 1 |
p.K112N | UCEC | 1 |
p.Q53K | ESCA | 1 |
p.R339G | LUSC | 1 |
p.E223X | COAD | 1 |
p.E221G | LIHC | 1 |
p.P32S | STAD | 1 |
p.R327Q | SKCM | 1 |
p.R327* | UCEC | 1 |
p.T381K | LUAD | 1 |
p.M305I | BLCA | 1 |
p.K325E | BLCA | 1 |
p.S44T | LUSC | 1 |
p.Q315* | SKCM | 1 |
p.R313I | UCEC | 1 |
p.K186N | COAD | 1 |
p.K228I | SKCM | 1 |
p.K83T | UCEC | 1 |
p.E88K | SKCM | 1 |
p.A346V | LGG | 1 |
p.H240Y | LUAD | 1 |
p.P375Q | SKCM | 1 |
p.G55V | UCEC | 1 |
p.R322H | COAD | 1 |
p.E157K | SKCM | 1 |
p.P406S | SKCM | 1 |
p.C7F | LUSC | 1 |
p.K317* | LUAD | 1 |
p.A346V | GBM | 1 |
p.A346S | LUAD | 1 |
p.R389Q | SKCM | 1 |
p.T379M | LUSC | 1 |
p.A387T | LIHC | 1 |
p.W13C | LIHC | 1 |
p.Q53H | ESCA | 1 |
p.G55R | SKCM | 1 |
p.W388R | UCEC | 1 |
p.P17S | STAD | 1 |
p.T356M | SKCM | 1 |
p.P406Q | THYM | 1 |
p.H78Q | UVM | 1 |
p.Q315X | SKCM | 1 |
p.H321D | BLCA | 1 |
p.R343K | SKCM | 1 |
p.N366I | STAD | 1 |
p.P393L | SKCM | 1 |
p.E54* | GBM | 1 |
p.L58F | SKCM | 1 |
p.S10L | LUSC | 1 |
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TissGeneCNV for C12orf50 |
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 C12orf50 |
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 | SKCM | TCGA-BF-A1Q0-01A | AHI1-C12orf50 | In-frame | Chr6:135748305 | Chr12:88388520 |
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TissGeneNet for C12orf50 |
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 C12orf50 |
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. |
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TissGeneClin for C12orf50 |
TissGeneDrug for C12orf50 |
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 C12orf50 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |