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TissGeneSummary for EFCAB2 |
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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. |
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GO ID | GO term | PubMed ID |
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TissGeneExp for EFCAB2 |
![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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![]() (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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![]() (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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![]() (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 |
![]() (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 |
![]() 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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![]() (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 |
![]() (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for EFCAB2 |
![]() (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 |
![]() (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 |
![]() (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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![]() (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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![]() (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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![]() (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 |
![]() (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 |
![]() (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |