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| TissGeneSummary for CYP7A1 |
 Gene summary |
| Basic gene information | Gene symbol | CYP7A1 |
| Gene name | cytochrome P450, family 7, subfamily A, polypeptide 1 | |
| Synonyms | CP7A|CYP7|CYPVII | |
| Cytomap | UCSC genome browser: 8q11-q12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000780.3, | |
| Description | cholesterol 7-alpha-hydroxylasecholesterol 7-alpha-monooxygenasecytochrome P450 7A1cytochrome P450, subfamily VIIA polypeptide 1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 118455 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000167910 | ||
| HPRD : 00324 | ||
| Vega : OTTHUMG00000164301 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CYP7A1 | |
| BioGPS: 1581 | ||
| Pathway | NCI Pathway Interaction Database: CYP7A1 | |
| KEGG: CYP7A1 | ||
| REACTOME: CYP7A1 | ||
| Pathway Commons: CYP7A1 | ||
| Context | iHOP: CYP7A1 | |
| ligand binding site mutation search in PubMed: CYP7A1 | ||
| UCL Cancer Institute: CYP7A1 | ||
| Assigned class in TissGDB* | A | |
| Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Liver | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHC | |
| Reference showing the relevant tissue of CYP7A1 | Hepatocyte specific expression of an oncogenic variant of β-catenin results in cholestatic liver disease. Lemberger UJ, Fuchs CD, Karer M, Haas S, Stojakovic T, Schöfer C, Marschall HU, Wrba F, Taketo MM, Egger G, Trauner M, Österreicher CH. Oncotarget. 2016 Dec 27;7(52):86985-86998. doi: 10.18632/oncotarget.13521. (pmid:27895309) go to article | |
| Description by TissGene annotations | TissgsKTS | |
| * 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 | GO:0006699 | bile acid biosynthetic process | 19965590 | GO:0070857 | regulation of bile acid biosynthetic process | 19965590 | GO:0071333 | cellular response to glucose stimulus | 19965590 | GO:0006699 | bile acid biosynthetic process | 19965590 | GO:0070857 | regulation of bile acid biosynthetic process | 19965590 | GO:0071333 | cellular response to glucose stimulus | 19965590 |
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| TissGeneExp for CYP7A1 |
| 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 |
| KICH | -2.23983452 | -1.08965452 | -1.15018 | 8.70E-11 | 6.78E-10 |
| BRCA | -1.995067959 | -0.79875217 | -1.196315789 | 2.75E-34 | 4.96E-33 |
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| TissGene-miRNA for CYP7A1 |
| 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 CYP7A1 |
| TissGeneSNV for CYP7A1 |
| 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.D213N | UCEC | 2 |
| p.P40T | CESC | 1 |
| p.R177L | COAD | 1 |
| p.H136Q | SKCM | 1 |
| p.H244Q | THYM | 1 |
| p.L486F | LGG | 1 |
| p.M72T | PRAD | 1 |
| p.R61S | STAD | 1 |
| p.T419A | PAAD | 1 |
| p.P82L | SKCM | 1 |
| p.L42M | LUSC | 1 |
| p.R250K | SKCM | 1 |
| p.S173Y | UCEC | 1 |
| p.S173Y | UCS | 1 |
| p.R112I | UCEC | 1 |
| p.L267* | SKCM | 1 |
| p.T419R | CESC | 1 |
| p.K475E | UCEC | 1 |
| p.H395Q | THYM | 1 |
| p.D96Y | BLCA | 1 |
| p.D272Y | BLCA | 1 |
| p.R195W | GBM | 1 |
| p.A231V | COAD | 1 |
| p.D213N | STAD | 1 |
| p.S286L | UCEC | 1 |
| p.P436S | SKCM | 1 |
| p.R382Q | HNSC | 1 |
| p.K93* | LUSC | 1 |
| p.P155L | UCEC | 1 |
| p.G440R | SKCM | 1 |
| p.A234D | HNSC | 1 |
| p.W166C | LUSC | 1 |
| p.C69Y | COAD | 1 |
| p.L42P | LUSC | 1 |
| p.G119* | LUAD | 1 |
| p.S286L | LUAD | 1 |
| p.I459F | LUAD | 1 |
| p.N233S | COAD | 1 |
| p.P404S | BLCA | 1 |
| p.S463C | BLCA | 1 |
| p.I470L | LUSC | 1 |
| p.F100I | HNSC | 1 |
| p.E236K | SKCM | 1 |
| p.K87M | LUSC | 1 |
| p.Q198R | LUAD | 1 |
| p.T163I | HNSC | 1 |
| p.D213N | BLCA | 1 |
| p.D403N | STAD | 1 |
| p.D384H | BLCA | 1 |
| p.G49S | UCEC | 1 |
| p.P445T | LUAD | 1 |
| p.H232N | LGG | 1 |
| p.S353L | COAD | 1 |
| p.H77N | UCEC | 1 |
| p.H395N | LUAD | 1 |
| p.D494Y | COAD | 1 |
| p.V76I | STAD | 1 |
| p.L22P | STAD | 1 |
| p.A288S | COAD | 1 |
| p.Y85* | LUAD | 1 |
| p.R195L | KIRP | 1 |
| p.R260L | COAD | 1 |
| p.A366V | SKCM | 1 |
| p.P52S | SKCM | 1 |
| p.S258R | BLCA | 1 |
| p.G377A | SKCM | 1 |
| p.A164T | HNSC | 1 |
| p.E453K | SKCM | 1 |
| p.A231T | THYM | 1 |
| p.L467F | OV | 1 |
| p.P332A | HNSC | 1 |
| p.R260C | LIHC | 1 |
| p.L346F | BRCA | 1 |
| p.A45S | BRCA | 1 |
| p.E236D | BLCA | 1 |
| p.V281M | COAD | 1 |
| p.L267X | SKCM | 1 |
| p.M435V | UCEC | 1 |
| p.A484T | STAD | 1 |
| p.L340M | LUAD | 1 |
| p.R151C | COAD | 1 |
| p.D494N | UCEC | 1 |
| p.A474P | PAAD | 1 |
| p.I114M | STAD | 1 |
| p.S268F | BLCA | 1 |
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| TissGeneCNV for CYP7A1 |
| 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 CYP7A1 |
| 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 CYP7A1 |
| 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) |
| CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (tumor) | CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (normal) |
 |  |
| COAD (tumor) | COAD (normal) |
| CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (tumor) | CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (tumor) | CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (normal) |
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| KICH (tumor) | KICH (normal) |
| CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (tumor) | CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (normal) |
 |  |
| KIRC (tumor) | KIRC (normal) |
| CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (tumor) | CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (normal) |
 |  |
| KIRP (tumor) | KIRP (normal) |
| CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (tumor) | CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (tumor) | CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (tumor) | CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (tumor) | CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (tumor) | CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (tumor) | CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (tumor) | CYP7A1, NR1H3, NR5A2, HNF1A, NR2F2 (normal) |
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| TissGeneProg for CYP7A1 |
| 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 CYP7A1 |
| TissGeneDrug for CYP7A1 |
| 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 CYP7A1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0008350 | Cholelithiasis | 6 | BeFree,GAD |
| umls:C0020443 | Hypercholesterolemia | 6 | BeFree,CTD_human,GAD |
| umls:C2239176 | Liver carcinoma | 6 | BeFree,LHGDN |
| umls:C0008370 | Cholestasis | 5 | BeFree,CTD_human |
| umls:C0947622 | Cholecystolithiasis | 5 | BeFree,GAD |
| umls:C1956346 | Coronary Artery Disease | 5 | BeFree,GAD |
| umls:C0007222 | Cardiovascular Diseases | 4 | BeFree,GAD |
| umls:C0010054 | Coronary Arteriosclerosis | 4 | BeFree,GAD |
| umls:C0023903 | Liver neoplasms | 4 | BeFree |
| umls:C0008312 | Primary biliary cirrhosis | 3 | BeFree |
| umls:C0020445 | Hypercholesterolemia, Familial | 3 | BeFree |
| umls:C0020473 | Hyperlipidemia | 3 | BeFree,GAD,LHGDN |
| umls:C0856727 | Cholesterol gallstones | 3 | BeFree |
| umls:C1527249 | Colorectal Cancer | 3 | BeFree,GAD |
| umls:C0005684 | Malignant neoplasm of urinary bladder | 2 | GAD |
| umls:C0007102 | Malignant tumor of colon | 2 | BeFree |
| umls:C0009402 | Colorectal Carcinoma | 2 | BeFree |
| umls:C0010068 | Coronary heart disease | 2 | BeFree |
| umls:C0011847 | Diabetes | 2 | BeFree |
| umls:C0011849 | Diabetes Mellitus | 2 | BeFree |
| umls:C0020557 | Hypertriglyceridemia | 2 | GAD |
| umls:C0027051 | Myocardial Infarction | 2 | GAD |
| umls:C0027873 | Neuromyelitis Optica | 2 | BeFree,GAD |
| umls:C0028754 | Obesity | 2 | BeFree,GAD |
| umls:C0153452 | Malignant neoplasm of gallbladder | 2 | BeFree |
| umls:C0235782 | Gallbladder Carcinoma | 2 | BeFree |
| umls:C0596263 | Carcinogenesis | 2 | BeFree |
| umls:C0699790 | Colon Carcinoma | 2 | BeFree |
| umls:C1302401 | Adenoma of large intestine | 2 | BeFree |
| umls:C1522137 | Hypertriglyceridemia result | 2 | GAD |
| umls:C0000786 | Spontaneous abortion | 1 | GAD |
| umls:C0003850 | Arteriosclerosis | 1 | BeFree |
| umls:C0004153 | Atherosclerosis | 1 | BeFree |
| umls:C0004352 | Autistic Disorder | 1 | GAD |
| umls:C0007273 | Carotid Artery Diseases | 1 | GAD |
| umls:C0016978 | gallbladder neoplasm | 1 | LHGDN |
| umls:C0020474 | Hyperlipidemia, Familial Combined | 1 | BeFree |
| umls:C0020479 | Hyperlipoproteinemia Type III | 1 | GAD |
| umls:C0020538 | Hypertensive disease | 1 | BeFree |
| umls:C0020550 | Hyperthyroidism | 1 | BeFree |
| umls:C0023895 | Liver diseases | 1 | BeFree |
| umls:C0025517 | Metabolic Diseases | 1 | BeFree |
| umls:C0040053 | Thrombosis | 1 | GAD |
| umls:C0041296 | Tuberculosis | 1 | BeFree |
| umls:C0042755 | Virilism | 1 | GAD |
| umls:C0085215 | Ovarian Failure, Premature | 1 | BeFree |
| umls:C0242216 | Biliary calculi | 1 | LHGDN |
| umls:C0518010 | body mass | 1 | GAD |
| umls:C0796126 | AICARDI-GOUTIERES SYNDROME 1 | 1 | BeFree |
| umls:C0860204 | Cholestatic liver disease | 1 | BeFree |
| umls:C1271104 | Blood pressure finding | 1 | GAD |
| umls:C1272641 | Systemic arterial pressure | 1 | GAD |
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