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| TissGeneSummary for EPB42 |
 Gene summary |
| Basic gene information | Gene symbol | EPB42 |
| Gene name | erythrocyte membrane protein band 4.2 | |
| Synonyms | PA|SPH5 | |
| Cytomap | UCSC genome browser: 15q15-q21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000119.2, NM_001114134.1, | |
| Description | P4.2erythrocyte protein 4.2erythrocyte surface protein band 4.2 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 177070 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000166947 | ||
| HPRD : 01517 | ||
| Vega : OTTHUMG00000130701 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_EPB42 | |
| BioGPS: 2038 | ||
| Pathway | NCI Pathway Interaction Database: EPB42 | |
| KEGG: EPB42 | ||
| REACTOME: EPB42 | ||
| Pathway Commons: EPB42 | ||
| Context | iHOP: EPB42 | |
| ligand binding site mutation search in PubMed: EPB42 | ||
| UCL Cancer Institute: EPB42 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | HPA,TiGER | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Bone marrowLiver | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LAMLLIHC | |
| Reference showing the relevant tissue of EPB42 | ||
| 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 EPB42 |
| 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 | -1.972084962 | -0.756739864 | -1.215345098 | 1.59E-10 | 5.86E-10 |
| LUAD | -1.883859168 | -0.596803995 | -1.287055172 | 6.12E-09 | 2.81E-08 |
| BRCA | -1.293190535 | 2.050377009 | -3.343567544 | 1.94E-28 | 2.33E-27 |
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| TissGene-miRNA for EPB42 |
| 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 EPB42 |
| TissGeneSNV for EPB42 |
| 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.M672K | SKCM | 2 |
| p.M702K | SKCM | 2 |
| p.Q611X | SKCM | 1 |
| p.Q184* | SKCM | 1 |
| p.G318D | SKCM | 1 |
| p.R280Q | STAD | 1 |
| p.R495C | SKCM | 1 |
| p.G348D | SKCM | 1 |
| p.M364K | OV | 1 |
| p.A567V | LGG | 1 |
| p.R584X | STAD | 1 |
| p.G288V | KICH | 1 |
| p.T526M | STAD | 1 |
| p.Q3H | LUAD | 1 |
| p.Y44C | STAD | 1 |
| p.T298I | COAD | 1 |
| p.T375M | PAAD | 1 |
| p.R60H | UCEC | 1 |
| p.R80H | STAD | 1 |
| p.S483N | SKCM | 1 |
| p.W363* | SKCM | 1 |
| p.R185C | HNSC | 1 |
| p.V715I | SKCM | 1 |
| p.Q154X | SKCM | 1 |
| p.K38N | HNSC | 1 |
| p.R638K | STAD | 1 |
| p.V211M | STAD | 1 |
| p.G29R | SKCM | 1 |
| p.R280* | STAD | 1 |
| p.L312V | LUAD | 1 |
| p.E238K | SKCM | 1 |
| p.T695A | UCEC | 1 |
| p.W299C | PRAD | 1 |
| p.V424A | KICH | 1 |
| p.R46H | COAD | 1 |
| p.A383D | UCEC | 1 |
| p.E5* | LUAD | 1 |
| p.R243H | STAD | 1 |
| p.R143K | SKCM | 1 |
| p.A176D | UCS | 1 |
| p.V318M | STAD | 1 |
| p.R243H | THYM | 1 |
| p.T321M | PRAD | 1 |
| p.R275H | UCEC | 1 |
| p.E126V | LIHC | 1 |
| p.Q641* | SKCM | 1 |
| p.E645K | BLCA | 1 |
| p.Y338C | LIHC | 1 |
| p.L225F | LUSC | 1 |
| p.R668K | STAD | 1 |
| p.R173K | SKCM | 1 |
| p.R155C | HNSC | 1 |
| p.E489K | CESC | 1 |
| p.G66E | COAD | 1 |
| p.V398I | SKCM | 1 |
| p.A275V | COAD | 1 |
| p.D86N | SKCM | 1 |
| p.K88R | HNSC | 1 |
| p.G454C | GBM | 1 |
| p.R554Q | SKCM | 1 |
| p.R76H | KIRP | 1 |
| p.P633L | SKCM | 1 |
| p.R289Q | SKCM | 1 |
| p.F109L | PRAD | 1 |
| p.E596A | COAD | 1 |
| p.P370H | TGCT | 1 |
| p.A77P | HNSC | 1 |
| p.R30C | HNSC | 1 |
| p.P603L | SKCM | 1 |
| p.G288V | ACC | 1 |
| p.G29* | LGG | 1 |
| p.R584* | UCEC | 1 |
| p.Q344X | STAD | 1 |
| p.L507M | SKCM | 1 |
| p.D220Y | LIHC | 1 |
| p.P587L | SKCM | 1 |
| p.S513N | SKCM | 1 |
| p.E675K | BLCA | 1 |
| p.R554* | STAD | 1 |
| p.A153V | PAAD | 1 |
| p.Y74C | STAD | 1 |
| p.S324L | BLCA | 1 |
| p.V288M | STAD | 1 |
| p.Q641* | LUSC | 1 |
| p.Q314* | STAD | 1 |
| p.A554V | UCEC | 1 |
| p.T405M | PAAD | 1 |
| p.E268K | SKCM | 1 |
| p.L301F | LUAD | 1 |
| p.T375M | READ | 1 |
| p.R245C | COAD | 1 |
| p.R60C | HNSC | 1 |
| p.R584Q | SKCM | 1 |
| p.L160F | SKCM | 1 |
| p.E476V | LUAD | 1 |
| p.T685K | LUAD | 1 |
| p.K118R | HNSC | 1 |
| p.R350I | LGG | 1 |
| p.R50H | STAD | 1 |
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| TissGeneCNV for EPB42 |
| 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 EPB42 |
| 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 |
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| TissGeneNet for EPB42 |
| 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) |
| BRCA (tumor) | BRCA (normal) |
| EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (tumor) | EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (normal) |
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| COAD (tumor) | COAD (normal) |
| EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (tumor) | EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (tumor) | EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (normal) |
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| KICH (tumor) | KICH (normal) |
| EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (tumor) | EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (tumor) | EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (tumor) | EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (tumor) | EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (tumor) | EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (tumor) | EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (tumor) | EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (normal) |
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| STAD (tumor) | STAD (normal) |
| EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (tumor) | EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (normal) |
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| THCA (tumor) | THCA (normal) |
| EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (tumor) | EPB42, ANK2, MAPK14, SPTAN1, EPB41, CD47, ANK1, SLC4A1, GFI1, SLC4A2, SPINK7, KRAS, STX12 (normal) |
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| TissGeneProg for EPB42 |
| 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 EPB42 |
| TissGeneDrug for EPB42 |
| 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 EPB42 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0037889 | Hereditary spherocytosis | 4 | BeFree,LHGDN,ORPHANET |
| umls:C2675192 | Spherocytosis, Type 5 | 4 | CLINVAR,CTD_human,UNIPROT |
| umls:C0002881 | Anemia, Hemolytic, Congenital | 3 | GAD |
| umls:C2674218 | SPHEROCYTOSIS, TYPE 1 (disorder) | 3 | BeFree,MGD |
| umls:C0002878 | Anemia, Hemolytic | 2 | BeFree |
| umls:C0221409 | Anemia, hereditary spherocytic hemolytic | 0 | ORPHANET |
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