TissGeneSummary for EFCAB3 |
Gene summary |
Basic gene information | Gene symbol | EFCAB3 |
Gene name | EF-hand calcium binding domain 3 | |
Synonyms | - | |
Cytomap | UCSC genome browser: 17q23.2 | |
Type of gene | protein-coding | |
RefGenes | NM_001144933.1, NM_173503.3, | |
Description | EF-hand calcium-binding domain-containing protein 3 | |
Modification date | 20141207 | |
dbXrefs | HGNC : HGNC | |
Ensembl : ENSG00000172421 | ||
HPRD : 08077 | ||
Vega : OTTHUMG00000179175 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_EFCAB3 | |
BioGPS: 146779 | ||
Pathway | NCI Pathway Interaction Database: EFCAB3 | |
KEGG: EFCAB3 | ||
REACTOME: EFCAB3 | ||
Pathway Commons: EFCAB3 | ||
Context | iHOP: EFCAB3 | |
ligand binding site mutation search in PubMed: EFCAB3 | ||
UCL Cancer Institute: EFCAB3 | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | HPA,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 EFCAB3 | ||
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 EFCAB3 |
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 |
KIRC | -0.749633853 | -2.327201909 | 1.577568056 | 4.03E-20 | 3.23E-19 |
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TissGene-miRNA for EFCAB3 |
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 EFCAB3 |
TissGeneSNV for EFCAB3 |
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.E439* | UCEC | 1 |
p.P324S | LGG | 1 |
p.R426K | SKCM | 1 |
p.P296S | SKCM | 1 |
p.D417H | BLCA | 1 |
p.I361V | UCEC | 1 |
p.M101V | BRCA | 1 |
p.D365H | BLCA | 1 |
p.D98N | SKCM | 1 |
p.A451T | UCEC | 1 |
p.K316N | READ | 1 |
p.A54T | UCEC | 1 |
p.F108S | COAD | 1 |
p.G236V | PRAD | 1 |
p.L275I | PAAD | 1 |
p.R385I | UCEC | 1 |
p.G232S | COAD | 1 |
p.L223I | PAAD | 1 |
p.P176A | BLCA | 1 |
p.V140F | LUSC | 1 |
p.E212* | UCEC | 1 |
p.R478K | SKCM | 1 |
p.F121L | UCEC | 1 |
p.N282S | UCEC | 1 |
p.T113R | BLCA | 1 |
p.P244S | SKCM | 1 |
p.T379A | BLCA | 1 |
p.A258V | LGG | 1 |
p.R219K | LUSC | 1 |
p.D270N | SKCM | 1 |
p.E143* | LUAD | 1 |
p.P19R | LUAD | 1 |
p.K366N | CESC | 1 |
p.L226H | ACC | 1 |
p.M101K | LUSC | 1 |
p.K24I | COAD | 1 |
p.G251E | SKCM | 1 |
p.G83* | STAD | 1 |
p.Y452C | CESC | 1 |
p.D150N | SKCM | 1 |
p.G411E | SKCM | 1 |
p.R482Q | LIHC | 1 |
p.M1I | BRCA | 1 |
p.Y141S | SKCM | 1 |
p.F222C | COAD | 1 |
p.R428K | SKCM | 1 |
p.S157Y | READ | 1 |
p.R399* | BLCA | 1 |
p.R385I | ESCA | 1 |
p.L117I | READ | 1 |
p.S238* | LUAD | 1 |
p.P272S | LGG | 1 |
p.P71R | LUAD | 1 |
p.G303E | SKCM | 1 |
p.L278H | ACC | 1 |
p.S442Y | UCEC | 1 |
p.R480K | SKCM | 1 |
p.R219* | LUAD | 1 |
p.M133I | BLCA | 1 |
p.T234I | SKCM | 1 |
p.K15N | DLBC | 1 |
p.T182I | SKCM | 1 |
p.V301A | ESCA | 1 |
p.K273T | UCEC | 1 |
p.D302Y | STAD | 1 |
p.V304M | SKCM | 1 |
p.V252M | SKCM | 1 |
p.P82Q | SARC | 1 |
p.L144I | LUAD | 1 |
p.L196I | LUAD | 1 |
p.P30L | COAD | 1 |
p.R410* | BLCA | 1 |
p.Y89S | SKCM | 1 |
p.I263F | LUAD | 1 |
p.A206V | LGG | 1 |
p.A374V | LUAD | 1 |
p.I211F | LUAD | 1 |
p.E329Q | BRCA | 1 |
p.S457F | SKCM | 1 |
p.S290* | LUAD | 1 |
p.L275I | UCEC | 1 |
p.G83X | STAD | 1 |
p.G359E | SKCM | 1 |
p.G477E | SKCM | 1 |
p.F272C | SKCM | 1 |
p.T431A | BLCA | 1 |
p.Q105K | LUAD | 1 |
p.S197* | BLCA | 1 |
p.W434* | SKCM | 1 |
p.L223I | COAD | 1 |
p.D80Y | LUAD | 1 |
p.L223I | STAD | 1 |
p.F427S | BRCA | 1 |
p.S20X | COAD | 1 |
p.T165R | BLCA | 1 |
p.P66A | LUSC | 1 |
p.I190V | SARC | 1 |
p.S405F | SKCM | 1 |
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TissGeneCNV for EFCAB3 |
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 EFCAB3 |
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 | BRCA | TCGA-A8-A09I-01A | MBTD1-EFCAB3 | 5UTR-CDS | Chr17:49336504 | Chr17:60451175 |
TCGAfusionPortal | PRADA | BRCA | TCGA-AN-A0FD-01A | RPS6KB1-EFCAB3 | CDS-5UTR | Chr17:57970686 | Chr17:60460324 |
TCGAfusionPortal | PRADA | BRCA | TCGA-AR-A0TT-01A | AKAP8L-EFCAB3 | Out-of-frame | Chr19:15507961 | Chr17:60472429 |
TCGAfusionPortal | PRADA | BRCA | TCGA-D8-A1JK-01A | TANC2-EFCAB3 | In-frame | Chr17:61278318 | Chr17:60451175 |
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TissGeneNet for EFCAB3 |
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 EFCAB3 |
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 EFCAB3 |
TissGeneDrug for EFCAB3 |
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 EFCAB3 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |