TissGeneSummary for EFCAB5 |
Gene summary |
Basic gene information | Gene symbol | EFCAB5 |
Gene name | EF-hand calcium binding domain 5 | |
Synonyms | - | |
Cytomap | UCSC genome browser: 17q11.2 | |
Type of gene | protein-coding | |
RefGenes | NM_001033562.1, NM_001145053.1,NM_198529.3,NR_026738.1, | |
Description | EF-hand calcium-binding domain-containing protein 5 | |
Modification date | 20141207 | |
dbXrefs | HGNC : HGNC | |
Ensembl : ENSG00000176927 | ||
HPRD : 13528 | ||
Vega : OTTHUMG00000179743 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_EFCAB5 | |
BioGPS: 374786 | ||
Pathway | NCI Pathway Interaction Database: EFCAB5 | |
KEGG: EFCAB5 | ||
REACTOME: EFCAB5 | ||
Pathway Commons: EFCAB5 | ||
Context | iHOP: EFCAB5 | |
ligand binding site mutation search in PubMed: EFCAB5 | ||
UCL Cancer Institute: EFCAB5 | ||
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 EFCAB5 | ||
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 EFCAB5 |
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 |
KICH | -1.813112459 | 0.490691541 | -2.303804 | 1.81E-14 | 3.13E-13 |
KIRC | -0.735633737 | 0.32793293 | -1.063566667 | 4.16E-11 | 1.54E-10 |
LUSC | -1.484484145 | -0.442948851 | -1.041535294 | 4.03E-10 | 1.44E-09 |
STAD | -0.227596584 | -1.279309084 | 1.0517125 | 0.000504 | 0.003047032 |
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TissGene-miRNA for EFCAB5 |
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 EFCAB5 |
TissGeneSNV for EFCAB5 |
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.R1256C | STAD | 2 |
p.R1258I | UCEC | 2 |
p.E1028K | LUAD | 2 |
p.M238I | BLCA | 2 |
p.T1249M | COAD | 2 |
p.D1049N | UCEC | 1 |
p.N170T | UCEC | 1 |
p.G637V | LUAD | 1 |
p.R1380C | LIHC | 1 |
p.D1229N | UCS | 1 |
p.D830H | KIRC | 1 |
p.E375* | HNSC | 1 |
p.R1274T | DLBC | 1 |
p.R520I | UCEC | 1 |
p.N311D | UCEC | 1 |
p.G529C | LUAD | 1 |
p.P1496S | PAAD | 1 |
p.E1446K | BLCA | 1 |
p.S352L | SKCM | 1 |
p.A988G | BLCA | 1 |
p.S622P | THCA | 1 |
p.V1252I | LUAD | 1 |
p.N1417D | UCEC | 1 |
p.Q606H | UCEC | 1 |
p.Y1490H | PRAD | 1 |
p.N443I | LUAD | 1 |
p.E111G | LIHC | 1 |
p.I1462M | READ | 1 |
p.F347C | COAD | 1 |
p.A1385V | STAD | 1 |
p.E315* | UCEC | 1 |
p.R1329L | ESCA | 1 |
p.I751L | TGCT | 1 |
p.D1267N | SKCM | 1 |
p.E1129K | SKCM | 1 |
p.L313I | UCEC | 1 |
p.Q1285H | COAD | 1 |
p.D374Y | THYM | 1 |
p.D1283Y | UCEC | 1 |
p.W881X | LIHC | 1 |
p.V183A | SKCM | 1 |
p.G601E | SKCM | 1 |
p.I667T | PAAD | 1 |
p.R979W | STAD | 1 |
p.R979W | SARC | 1 |
p.I781N | LUAD | 1 |
p.S1363Y | COAD | 1 |
p.K121N | KIRP | 1 |
p.W1461X | COAD | 1 |
p.R869X | PAAD | 1 |
p.E737K | CESC | 1 |
p.S482N | KIRP | 1 |
p.D294N | STAD | 1 |
p.E22D | HNSC | 1 |
p.K177* | BLCA | 1 |
p.P1217L | SKCM | 1 |
p.A355V | READ | 1 |
p.D1267N | HNSC | 1 |
p.S1443F | SKCM | 1 |
p.R609C | HNSC | 1 |
p.P1496S | COAD | 1 |
p.R630K | BLCA | 1 |
p.R974M | LUAD | 1 |
p.S566P | THCA | 1 |
p.G887D | THYM | 1 |
p.S841F | SKCM | 1 |
p.E567D | LUSC | 1 |
p.R1380C | STAD | 1 |
p.R609C | BRCA | 1 |
p.S522L | CESC | 1 |
p.E515* | LGG | 1 |
p.H363R | COAD | 1 |
p.Q235R | STAD | 1 |
p.G1015E | HNSC | 1 |
p.K921N | THYM | 1 |
p.Q616K | HNSC | 1 |
p.R408K | SKCM | 1 |
p.S785F | SKCM | 1 |
p.G657E | SKCM | 1 |
p.S992T | STAD | 1 |
p.R1256H | PAAD | 1 |
p.R979W | COAD | 1 |
p.A411P | BRCA | 1 |
p.P12T | CHOL | 1 |
p.A865T | SKCM | 1 |
p.G302* | CESC | 1 |
p.G1170S | HNSC | 1 |
p.E1034D | BLCA | 1 |
p.K177N | KIRP | 1 |
p.K902N | PAAD | 1 |
p.E495K | BLCA | 1 |
p.P1496A | LUAD | 1 |
p.W881* | LIHC | 1 |
p.D209H | LUSC | 1 |
p.E601Q | BLCA | 1 |
p.F403S | LIHC | 1 |
p.L961V | BLCA | 1 |
p.S582* | BLCA | 1 |
p.V764L | READ | 1 |
p.R979W | ACC | 1 |
p.S598L | SKCM | 1 |
p.L1326V | BLCA | 1 |
p.E47D | KIRC | 1 |
p.I1314T | KIRP | 1 |
p.E611Q | BLCA | 1 |
p.K483X | KIRP | 1 |
p.G1117V | LUAD | 1 |
p.R1200C | UCS | 1 |
p.A964T | THYM | 1 |
p.D676Y | UCEC | 1 |
p.M1275L | SKCM | 1 |
p.E927K | BLCA | 1 |
p.Q1433H | LGG | 1 |
p.L181V | COAD | 1 |
p.C1278R | STAD | 1 |
p.R1444Q | GBM | 1 |
p.L538V | LIHC | 1 |
p.S1149T | HNSC | 1 |
p.W448* | LUSC | 1 |
p.K1405N | BLCA | 1 |
p.S932* | BLCA | 1 |
p.L1414S | SKCM | 1 |
p.K1307N | BLCA | 1 |
p.S1303A | BLCA | 1 |
p.H729Y | BRCA | 1 |
p.R609H | PAAD | 1 |
p.R1380C | LUSC | 1 |
p.E635* | BLCA | 1 |
p.E849K | SKCM | 1 |
p.D884Y | KIRC | 1 |
p.E908X | COAD | 1 |
p.R701K | SKCM | 1 |
p.D294N | UCEC | 1 |
p.D318A | COAD | 1 |
p.K620N | UCEC | 1 |
p.Q636P | HNSC | 1 |
p.M767K | BLCA | 1 |
p.I1251M | STAD | 1 |
p.C396F | THYM | 1 |
p.R373X | COAD | 1 |
p.P503Q | LGG | 1 |
p.R1256C | UCEC | 1 |
p.I1471T | LUAD | 1 |
p.I1306M | LUAD | 1 |
p.K246N | LUAD | 1 |
p.R869* | PAAD | 1 |
p.D356H | BLCA | 1 |
p.E927K | UCS | 1 |
p.E1429K | SKCM | 1 |
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TissGeneCNV for EFCAB5 |
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 EFCAB5 |
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 | FusionScan | BRCA | TCGA-C8-A275-01A | SSH2-EFCAB5 | In-Frame | chr17:28120911 | chr17:28320182 |
Chimerdb3.0 | FusionScan | BRCA | TCGA-C8-A275-01A | MSI2-EFCAB5 | In-Frame | chr17:55607085 | chr17:28434851 |
Chimerdb3.0 | FusionScan | BRCA | TCGA-C8-A275-01A | MSI2-EFCAB5 | In-Frame | chr17:55607085 | chr17:28418888 |
Chimerdb3.0 | FusionScan | BRCA | TCGA-C8-A275-01A | MSI2-EFCAB5 | Out-of-Frame | chr17:55607085 | chr17:28378135 |
Chimerdb3.0 | FusionScan | BRCA | TCGA-A8-A09C-01A | CBX4-EFCAB5 | Out-of-Frame | chr17:77811635 | chr17:28418888 |
Chimerdb3.0 | FusionScan | BRCA | TCGA-A8-A09C-01A | CBX4-EFCAB5 | Out-of-Frame | chr17:77811635 | chr17:28434851 |
Chimerdb3.0 | FusionScan | BRCA | TCGA-AR-A0TY-01A | TAOK1-EFCAB5 | Out-of-Frame | chr17:27844674 | chr17:28434851 |
TCGAfusionPortal | PRADA | BLCA | TCGA-HQ-A2OE-01A | NSRP1-EFCAB5 | In-frame | Chr17:28445191 | Chr17:28378136 |
TCGAfusionPortal | PRADA | BRCA | TCGA-A8-A09C-01A | CBX4-EFCAB5 | Out-of-frame | Chr17:77811636 | Chr17:28418889 |
TCGAfusionPortal | PRADA | BRCA | TCGA-C8-A275-01A | MSI2-EFCAB5 | Out-of-frame | Chr17:55607085 | Chr17:28378136 |
TCGAfusionPortal | PRADA | LUAD | TCGA-35-5375-01A | ATAD5-EFCAB5 | In-frame | Chr17:29164332 | Chr17:28409909 |
TCGAfusionPortal | PRADA | LUAD | TCGA-MP-A5C7-01A | KSR1-EFCAB5 | Out-of-frame | Chr17:25887482 | Chr17:28295809 |
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TissGeneNet for EFCAB5 |
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 EFCAB5 |
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 EFCAB5 |
TissGeneDrug for EFCAB5 |
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 EFCAB5 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |