TissGeneSummary for ENTHD1 |
Gene summary |
Basic gene information | Gene symbol | ENTHD1 |
Gene name | ENTH domain containing 1 | |
Synonyms | CACNA1I|dJ370M22.3 | |
Cytomap | UCSC genome browser: 22q13.1 | |
Type of gene | protein-coding | |
RefGenes | NM_152512.3, | |
Description | ENTH domain-containing protein 1dJ370M22.3 (EPSIN 2B)epsin-2B | |
Modification date | 20141207 | |
dbXrefs | HGNC : HGNC | |
Ensembl : ENSG00000176177 | ||
HPRD : 08063 | ||
Vega : OTTHUMG00000151098 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ENTHD1 | |
BioGPS: 150350 | ||
Pathway | NCI Pathway Interaction Database: ENTHD1 | |
KEGG: ENTHD1 | ||
REACTOME: ENTHD1 | ||
Pathway Commons: ENTHD1 | ||
Context | iHOP: ENTHD1 | |
ligand binding site mutation search in PubMed: ENTHD1 | ||
UCL Cancer Institute: ENTHD1 | ||
Assigned class in TissGDB* | B | |
Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | SkinTestis | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | SKCMTGCT | |
Reference showing the relevant tissue of ENTHD1 | ||
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 ENTHD1 |
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 |
LUSC | 0.216259727 | -0.810499096 | 1.026758824 | 9.94E-06 | 2.26E-05 |
BRCA | 0.025529593 | -1.67607567 | 1.701605263 | 1.26E-21 | 1.01E-20 |
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TissGene-miRNA for ENTHD1 |
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 ENTHD1 |
TissGeneSNV for ENTHD1 |
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.S588L | SKCM | 2 |
p.A279D | UCEC | 1 |
p.G85R | SKCM | 1 |
p.I400N | KICH | 1 |
p.V213D | ESCA | 1 |
p.L436V | BLCA | 1 |
p.N496S | ESCA | 1 |
p.S275L | SKCM | 1 |
p.A253E | LUAD | 1 |
p.E515K | BLCA | 1 |
p.D28N | LUSC | 1 |
p.E269K | SKCM | 1 |
p.L441M | COAD | 1 |
p.D537E | LUAD | 1 |
p.G65W | LUAD | 1 |
p.E270X | COAD | 1 |
p.N55I | SKCM | 1 |
p.D115H | HNSC | 1 |
p.D28Y | LUAD | 1 |
p.K83X | LIHC | 1 |
p.D537E | ESCA | 1 |
p.V478A | STAD | 1 |
p.I570T | LUSC | 1 |
p.P227T | LUAD | 1 |
p.T409N | LUAD | 1 |
p.S408L | SKCM | 1 |
p.G476C | ESCA | 1 |
p.A2T | SKCM | 1 |
p.F242L | BLCA | 1 |
p.R69H | STAD | 1 |
p.S517F | SKCM | 1 |
p.S34R | SKCM | 1 |
p.D522H | BLCA | 1 |
p.N99K | THYM | 1 |
p.G514E | SARC | 1 |
p.E318* | UCEC | 1 |
p.D375Y | LUAD | 1 |
p.P542A | LUAD | 1 |
p.V127F | LIHC | 1 |
p.E341* | BRCA | 1 |
p.Q523H | LUSC | 1 |
p.R150H | PRAD | 1 |
p.Q359K | ESCA | 1 |
p.R376Q | SKCM | 1 |
p.M581I | LUAD | 1 |
p.P288S | SKCM | 1 |
p.D28N | SKCM | 1 |
p.Q359H | LUSC | 1 |
p.K545N | COAD | 1 |
p.P177L | READ | 1 |
p.N546H | COAD | 1 |
p.R69C | LUAD | 1 |
p.A560T | READ | 1 |
p.E363K | LUAD | 1 |
p.F524L | ESCA | 1 |
p.I400N | LIHC | 1 |
p.R150C | THYM | 1 |
p.R557H | HNSC | 1 |
p.E515* | SARC | 1 |
p.E541K | SKCM | 1 |
p.G492E | SKCM | 1 |
p.S368P | LUAD | 1 |
p.L573F | BLCA | 1 |
p.T147S | SKCM | 1 |
p.L527M | BRCA | 1 |
p.S509C | BLCA | 1 |
p.F97L | UCEC | 1 |
p.E183D | BLCA | 1 |
p.H92R | OV | 1 |
p.S421F | SKCM | 1 |
p.R4K | HNSC | 1 |
p.R22T | BLCA | 1 |
p.L573R | ESCA | 1 |
p.H64L | LUAD | 1 |
p.Q223H | COAD | 1 |
p.K87N | ESCA | 1 |
p.D293E | UCEC | 1 |
p.S51L | SKCM | 1 |
p.L252I | LUSC | 1 |
p.E431D | READ | 1 |
p.S51* | HNSC | 1 |
p.P32L | KIRC | 1 |
p.P369S | LUAD | 1 |
p.A560T | COAD | 1 |
p.S498C | LIHC | 1 |
p.Q598P | LUAD | 1 |
p.S124A | PAAD | 1 |
p.R292K | CESC | 1 |
p.E412K | LUAD | 1 |
p.S15A | KIRP | 1 |
p.E564* | LUAD | 1 |
p.A466S | PRAD | 1 |
p.H231N | UCEC | 1 |
p.T404A | STAD | 1 |
p.R69C | GBM | 1 |
p.G192R | SKCM | 1 |
p.L156S | HNSC | 1 |
p.K88T | READ | 1 |
p.D105N | SKCM | 1 |
p.K187E | BLCA | 1 |
p.E111G | COAD | 1 |
p.A323E | LUSC | 1 |
p.L488P | ESCA | 1 |
p.V596A | COAD | 1 |
p.E341D | LGG | 1 |
p.K184* | OV | 1 |
p.R4K | OV | 1 |
p.G413E | HNSC | 1 |
p.S594F | SKCM | 1 |
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TissGeneCNV for ENTHD1 |
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 ENTHD1 |
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-AO-A03V-01A | POLR3H-ENTHD1 | CDS-5UTR | Chr22:41936703 | Chr22:40283907 |
TCGAfusionPortal | PRADA | LUAD | TCGA-MP-A4SV-01A | KREMEN1-ENTHD1 | In-frame | Chr22:29494941 | Chr22:40231963 |
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TissGeneNet for ENTHD1 |
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 ENTHD1 |
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 ENTHD1 |
TissGeneDrug for ENTHD1 |
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 ENTHD1 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |