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| TissGeneSummary for HEPH |
 Gene summary |
| Basic gene information | Gene symbol | HEPH |
| Gene name | hephaestin | |
| Synonyms | CPL | |
| Cytomap | UCSC genome browser: Xq11-q12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001130860.3, NM_001282141.1,NM_014799.3,NM_138737.4, | |
| Description | - | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 300167 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000089472 | ||
| HPRD : 02159 | ||
| Vega : OTTHUMG00000021732 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HEPH | |
| BioGPS: 9843 | ||
| Pathway | NCI Pathway Interaction Database: HEPH | |
| KEGG: HEPH | ||
| REACTOME: HEPH | ||
| Pathway Commons: HEPH | ||
| Context | iHOP: HEPH | |
| ligand binding site mutation search in PubMed: HEPH | ||
| UCL Cancer Institute: HEPH | ||
| 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) | Colon | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | COAD | |
| Reference showing the relevant tissue of HEPH | ||
| 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 HEPH |
| 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 |
| PRAD | -0.273637868 | 0.926089055 | -1.199726923 | 4.80E-09 | 6.45E-08 |
| KIRP | -2.432108301 | -0.117005176 | -2.315103125 | 6.13E-09 | 4.87E-08 |
| KICH | -2.106282176 | -0.044926176 | -2.061356 | 1.24E-14 | 2.26E-13 |
| BLCA | -0.454309123 | 1.045243509 | -1.499552632 | 0.000643 | 0.004914199 |
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| TissGene-miRNA for HEPH |
| 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 HEPH |
| TissGeneSNV for HEPH |
| 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.E941K | SKCM | 3 |
| p.E992K | SKCM | 3 |
| p.A1179V | SKCM | 3 |
| p.R477Q | SKCM | 2 |
| p.R731H | UCEC | 2 |
| p.R973W | SKCM | 2 |
| p.A1127V | SKCM | 2 |
| p.R922W | SKCM | 2 |
| p.L700M | LUSC | 1 |
| p.G468D | UCEC | 1 |
| p.A78S | OV | 1 |
| p.E1069G | LUAD | 1 |
| p.R461I | ACC | 1 |
| p.G998W | LUAD | 1 |
| p.G967R | LUAD | 1 |
| p.W937C | STAD | 1 |
| p.T1120A | DLBC | 1 |
| p.A906V | KIRC | 1 |
| p.E920* | LUAD | 1 |
| p.T847A | LUSC | 1 |
| p.V665A | PAAD | 1 |
| p.R410I | ACC | 1 |
| p.H307Q | UCEC | 1 |
| p.Y783S | KIRP | 1 |
| p.S948Y | UCEC | 1 |
| p.R383X | SKCM | 1 |
| p.P773T | LUSC | 1 |
| p.S57* | BLCA | 1 |
| p.R486* | HNSC | 1 |
| p.V719A | PAAD | 1 |
| p.D409V | ESCA | 1 |
| p.V881F | LUAD | 1 |
| p.L1173F | SKCM | 1 |
| p.E631* | UCS | 1 |
| p.L231I | UCEC | 1 |
| p.R1194Q | SKCM | 1 |
| p.Y701F | UCEC | 1 |
| p.R973Q | LUSC | 1 |
| p.N648Y | LUAD | 1 |
| p.Q725X | ACC | 1 |
| p.P306S | SKCM | 1 |
| p.A833V | UCEC | 1 |
| p.R1066W | SKCM | 1 |
| p.T90I | UCEC | 1 |
| p.A884V | LGG | 1 |
| p.S484I | STAD | 1 |
| p.R729H | UCEC | 1 |
| p.H488N | LUAD | 1 |
| p.D417E | UCEC | 1 |
| p.S1112F | SKCM | 1 |
| p.F1012S | UCEC | 1 |
| p.H455Y | UCEC | 1 |
| p.I1129V | PRAD | 1 |
| p.G327D | STAD | 1 |
| p.W988C | STAD | 1 |
| p.W242C | BRCA | 1 |
| p.D138V | HNSC | 1 |
| p.A995S | LUAD | 1 |
| p.R486* | PRAD | 1 |
| p.S535N | BLCA | 1 |
| p.D546Y | ESCA | 1 |
| p.L106V | BLCA | 1 |
| p.K469T | ESCA | 1 |
| p.L1072V | STAD | 1 |
| p.E1090K | PAAD | 1 |
| p.S882F | SKCM | 1 |
| p.F581L | UCEC | 1 |
| p.R1119* | SKCM | 1 |
| p.D1001G | HNSC | 1 |
| p.P381T | BLCA | 1 |
| p.P686S | LUAD | 1 |
| p.D689H | SARC | 1 |
| p.R1144L | HNSC | 1 |
| p.W483L | LUAD | 1 |
| p.Y885X | SKCM | 1 |
| p.H294N | LUSC | 1 |
| p.R1144H | UCEC | 1 |
| p.P1002R | LUSC | 1 |
| p.L459M | HNSC | 1 |
| p.T369S | SKCM | 1 |
| p.I131V | LUAD | 1 |
| p.W483* | SKCM | 1 |
| p.E758K | SKCM | 1 |
| p.L1178Q | LUAD | 1 |
| p.R572P | HNSC | 1 |
| p.P181S | SKCM | 1 |
| p.I791V | LUAD | 1 |
| p.K119N | UCEC | 1 |
| p.R1068P | LUAD | 1 |
| p.M1098I | HNSC | 1 |
| p.R477* | HNSC | 1 |
| p.L773P | SKCM | 1 |
| p.V524M | BLCA | 1 |
| p.K630T | SKCM | 1 |
| p.L55V | BLCA | 1 |
| p.R426* | HNSC | 1 |
| p.R790T | LUAD | 1 |
| p.H358Q | UCEC | 1 |
| p.K1148N | BLCA | 1 |
| p.A742T | COAD | 1 |
| p.F931C | UCEC | 1 |
| p.V1086A | LIHC | 1 |
| p.R1194Q | ACC | 1 |
| p.M450I | SKCM | 1 |
| p.R87W | SARC | 1 |
| p.R47K | SKCM | 1 |
| p.G1081E | SKCM | 1 |
| p.R852W | STAD | 1 |
| p.T899A | STAD | 1 |
| p.I910M | BRCA | 1 |
| p.R426Q | SKCM | 1 |
| p.R1191K | SKCM | 1 |
| p.K1157N | HNSC | 1 |
| p.F823L | LUAD | 1 |
| p.R426Q | UCEC | 1 |
| p.E1081D | READ | 1 |
| p.A78D | LUAD | 1 |
| p.Q671H | UCEC | 1 |
| p.A39V | OV | 1 |
| p.L589F | SKCM | 1 |
| p.F470L | HNSC | 1 |
| p.H363Y | SKCM | 1 |
| p.W759* | UCEC | 1 |
| p.G359S | LUAD | 1 |
| p.I1142F | CESC | 1 |
| p.K1105N | READ | 1 |
| p.S671F | SKCM | 1 |
| p.I110T | DLBC | 1 |
| p.P951L | STAD | 1 |
| p.V796I | LUAD | 1 |
| p.R343H | LUAD | 1 |
| p.G1030E | SKCM | 1 |
| p.L194V | LIHC | 1 |
| p.Q90H | LUAD | 1 |
| p.H539N | LUAD | 1 |
| p.Y527C | LUSC | 1 |
| p.R434* | SKCM | 1 |
| p.P1155S | SKCM | 1 |
| p.R435* | STAD | 1 |
| p.R1195L | HNSC | 1 |
| p.A646V | BRCA | 1 |
| p.G606D | LUSC | 1 |
| p.V932F | LUAD | 1 |
| p.W91* | SKCM | 1 |
| p.R1195C | GBM | 1 |
| p.W522C | LUAD | 1 |
| p.R486X | STAD | 1 |
| p.G769V | READ | 1 |
| p.A579G | LUAD | 1 |
| p.G147D | UCEC | 1 |
| p.A1136T | LIHC | 1 |
| p.A884V | UCEC | 1 |
| p.P953H | LUAD | 1 |
| p.M713I | LUAD | 1 |
| p.R1119P | LUAD | 1 |
| p.G627E | SKCM | 1 |
| p.A755S | LUAD | 1 |
| p.Q915* | BLCA | 1 |
| p.M690T | STAD | 1 |
| p.G508* | LUAD | 1 |
| p.L1207F | SKCM | 1 |
| p.S118F | STAD | 1 |
| p.T456A | LUAD | 1 |
| p.P130S | SKCM | 1 |
| p.E859D | UCEC | 1 |
| p.Y888C | THYM | 1 |
| p.R71Q | BRCA | 1 |
| p.E1018G | LUAD | 1 |
| p.L1155F | SKCM | 1 |
| p.E580* | UCEC | 1 |
| p.E187K | BLCA | 1 |
| p.V1085I | SKCM | 1 |
| p.H1048Q | LUAD | 1 |
| p.P576H | LUAD | 1 |
| p.P176S | SKCM | 1 |
| p.W573C | LUAD | 1 |
| p.G410S | LUAD | 1 |
| p.W902C | LUAD | 1 |
| p.R1189G | LUSC | 1 |
| p.L510M | HNSC | 1 |
| p.E1144K | PAAD | 1 |
| p.A1039T | COAD | 1 |
| p.E615K | BRCA | 1 |
| p.S1164F | SKCM | 1 |
| p.C750Y | UCEC | 1 |
| p.I238M | LUAD | 1 |
| p.S882F | UCEC | 1 |
| p.R1119Q | SKCM | 1 |
| p.Y936* | SKCM | 1 |
| p.R36W | UCEC | 1 |
| p.I740V | LUAD | 1 |
| p.R1144C | HNSC | 1 |
| p.L1121F | SKCM | 1 |
| p.R1195C | HNSC | 1 |
| p.E516* | UCEC | 1 |
| p.E809K | SKCM | 1 |
| p.R1015W | SKCM | 1 |
| p.P398S | SKCM | 1 |
| p.W62R | HNSC | 1 |
| p.I740T | STAD | 1 |
| p.E933K | BLCA | 1 |
| p.G909C | LUAD | 1 |
| p.D468E | UCEC | 1 |
| p.H347L | HNSC | 1 |
| p.T748I | LUSC | 1 |
| p.P868Q | UCEC | 1 |
| p.E974K | SKCM | 1 |
| p.P1029T | UCEC | 1 |
| p.W1185X | STAD | 1 |
| p.L1123V | STAD | 1 |
| p.R841T | LUAD | 1 |
| p.M1152I | LUAD | 1 |
| p.D950G | HNSC | 1 |
| p.K1157R | LGG | 1 |
| p.P181R | LUSC | 1 |
| p.E303K | BRCA | 1 |
| p.P1080R | LUAD | 1 |
| p.V940G | LUSC | 1 |
| p.E912* | STAD | 1 |
| p.R852Q | BLCA | 1 |
| p.R801Q | BLCA | 1 |
| p.E1087V | LUAD | 1 |
| p.W483R | LUAD | 1 |
| p.W810* | UCEC | 1 |
| p.G431V | LUAD | 1 |
| p.G997C | UCEC | 1 |
| p.G814S | SKCM | 1 |
| p.G627R | SKCM | 1 |
| p.G457* | LUAD | 1 |
| p.G960C | LUAD | 1 |
| p.W432R | LUAD | 1 |
| p.H452N | LUSC | 1 |
| p.E984K | BLCA | 1 |
| p.R835H | COAD | 1 |
| p.P919Q | UCEC | 1 |
| p.P449S | SKCM | 1 |
| p.D999Y | UCEC | 1 |
| p.H1105N | LUAD | 1 |
| p.Q776* | ACC | 1 |
| p.P289L | OV | 1 |
| p.V989A | COAD | 1 |
| p.P1002L | STAD | 1 |
| p.L824P | SKCM | 1 |
| p.D112G | STAD | 1 |
| p.Y1071N | TGCT | 1 |
| p.Q720* | LUAD | 1 |
| p.H1099Q | LUAD | 1 |
| p.F594L | BLCA | 1 |
| p.T996I | CHOL | 1 |
| p.G124V | KIRC | 1 |
| p.T236I | SKCM | 1 |
| p.R124C | SKCM | 1 |
| p.H347Q | LUSC | 1 |
| p.R852Q | LGG | 1 |
| p.P1139L | SKCM | 1 |
| p.R175C | SKCM | 1 |
| p.N597Y | LUAD | 1 |
| p.M1152L | SKCM | 1 |
| p.R673Q | UCS | 1 |
| p.L779F | SKCM | 1 |
| p.P586S | SKCM | 1 |
| p.D87V | HNSC | 1 |
| p.H1059Y | SKCM | 1 |
| p.R196* | UCEC | 1 |
| p.G183D | SKCM | 1 |
| p.W1134* | STAD | 1 |
| p.L830F | SKCM | 1 |
| p.D119V | LUAD | 1 |
| p.P202L | SKCM | 1 |
| p.A598T | COAD | 1 |
| p.F1117S | HNSC | 1 |
| p.V613M | LUSC | 1 |
| p.T848A | STAD | 1 |
| p.P857L | SKCM | 1 |
| p.G132D | SKCM | 1 |
| p.F1066S | HNSC | 1 |
| p.G97E | SKCM | 1 |
| p.S535I | STAD | 1 |
| p.A704S | LUAD | 1 |
| p.P255S | SKCM | 1 |
| p.L282P | LIHC | 1 |
| p.G97E | HNSC | 1 |
| p.S933F | SKCM | 1 |
| p.G1109V | BLCA | 1 |
| p.R968W | UCEC | 1 |
| p.R98K | SKCM | 1 |
| p.T228I | HNSC | 1 |
| p.Q776X | ACC | 1 |
| p.W40X | SKCM | 1 |
| p.E354K | SKCM | 1 |
| p.E859* | LUSC | 1 |
| p.R764W | LUAD | 1 |
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| TissGeneCNV for HEPH |
| 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 HEPH |
| 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 | ESCA | TCGA-IC-A6RE-11A | HEPH-KDM2A | Out-of-Frame | chrX:65382718 | chr11:66982810 |
| Chimerdb3.0 | FusionScan | ESCA | TCGA-IG-A3I8-11A | HEPH-ZC4H2 | Out-of-Frame | chrX:65428088 | chrX:64141868 |
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| TissGeneNet for HEPH |
| 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 HEPH |
| 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 HEPH |
| TissGeneDrug for HEPH |
| 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 HEPH |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0018995 | Hemochromatosis | 3 | BeFree |
| umls:C0240066 | Iron deficiency | 3 | BeFree |
| umls:C0282193 | Iron Overload | 3 | BeFree |
| umls:C0002871 | Anemia | 2 | BeFree |
| umls:C0000786 | Spontaneous abortion | 1 | GAD |
| umls:C0009402 | Colorectal Carcinoma | 1 | BeFree |
| umls:C0023895 | Liver diseases | 1 | BeFree |
| umls:C0149931 | Migraine Disorders | 1 | BeFree |
| umls:C0242350 | Erectile dysfunction | 1 | GAD |
| umls:C0268070 | Hypocupremia | 1 | BeFree |
| umls:C0392514 | Hereditary hemochromatosis | 1 | BeFree |
| umls:C1527249 | Colorectal Cancer | 1 | BeFree |
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