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| TissGeneSummary for EFCAB2 |
 Gene summary |
| Basic gene information | Gene symbol | EFCAB2 |
| Gene name | EF-hand calcium binding domain 2 | |
| Synonyms | CFAP200|DRC8 | |
| Cytomap | UCSC genome browser: 1q44 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001143943.1, NM_001290327.1,NM_032328.3,NR_026587.1,NR_026588.1, NR_026586.1, | |
| Description | EF-hand calcium-binding domain-containing protein 2dynein regulatory complex subunit 8 | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000203666 | ||
| HPRD : 14423 | ||
| Vega : OTTHUMG00000040474 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_EFCAB2 | |
| BioGPS: 84288 | ||
| Pathway | NCI Pathway Interaction Database: EFCAB2 | |
| KEGG: EFCAB2 | ||
| REACTOME: EFCAB2 | ||
| Pathway Commons: EFCAB2 | ||
| Context | iHOP: EFCAB2 | |
| ligand binding site mutation search in PubMed: EFCAB2 | ||
| UCL Cancer Institute: EFCAB2 | ||
| 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) | BladderThyroid gland | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | BLCATHCA | |
| Reference showing the relevant tissue of EFCAB2 | ||
| Description by TissGene annotations | Risk TissGene in OS TissgsLTS Fused withOncogene | |
| * 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 EFCAB2 |
| 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 |
| LUSC | -0.961164997 | 0.386836964 | -1.348001961 | 2.09E-14 | 1.18E-13 |
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| TissGene-miRNA for EFCAB2 |
| 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 |
| ACC | hsa-miR-214-5p | MIMAT0004564 | 0.016 | -0.27 | 78 |
| ACC | hsa-miR-214-5p | MIMAT0004564 | 0.016 | -0.27 | 78 |
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| TissGeneMut for EFCAB2 |
| TissGeneSNV for EFCAB2 |
| 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.E210K | SKCM | 2 |
| p.R99X | SKCM | 1 |
| p.X163K | LIHC | 1 |
| p.H152Y | SKCM | 1 |
| p.V103F | STAD | 1 |
| p.R44S | KIRC | 1 |
| p.R72X | STAD | 1 |
| p.R235* | SKCM | 1 |
| p.G246V | UCS | 1 |
| p.G129V | LUAD | 1 |
| p.P214S | SKCM | 1 |
| p.K224_splice | UCEC | 1 |
| p.R180S | KIRC | 1 |
| p.R208* | STAD | 1 |
| p.A107V | BRCA | 1 |
| p.D57Y | READ | 1 |
| p.E74K | SKCM | 1 |
| p.K255N | UCEC | 1 |
| p.V158L | HNSC | 1 |
| p.M133I | LUAD | 1 |
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| TissGeneCNV for EFCAB2 |
| 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 EFCAB2 |
| 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 | BC002836 | FGR-EFCAB2 | chr1:27953078 | chr1:245250923 | |
| Chimerdb3.0 | ChiTaRs | NA | BF999810 | BBS2-EFCAB2 | chr16:56534284 | chr1:245141471 | |
| TCGAfusionPortal | PRADA | LUAD | TCGA-78-7155-01A | EFCAB2-SDCCAG8 | In-frame | Chr1:245222760 | Chr1:243449574 |
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| TissGeneNet for EFCAB2 |
| 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 EFCAB2 |
| 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 EFCAB2 |
| TissGeneDrug for EFCAB2 |
| 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 EFCAB2 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
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