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mutLBSgeneDB |
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| Gene summary for CYP7A1 |
 Gene summary |
| Basic gene Info. | 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: P22680 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 mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| 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 |
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| Ligand binding site mutations for CYP7A1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R260 | S258R | BLCA | 1 | V281 | V281M | COAD | 1 | N289 | A288S | COAD | 1 | I125,F129 | D127N | COAD | 1 | P445 | P445T | LUAD | 1 | S286 | S286L | LUAD | 1 | E453 | E453K | SKCM | 1 | P436 | P436S | SKCM | 1 | G485 | A484T | STAD | 1 | I114 | I114M | STAD | 1 | P436 | M435V | UCEC | 1 | S286 | S286L | UCEC | 1 | I114 | R112I | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for CYP7A1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | N289 | A288S | -1.2816808 | I125 | D127N | -1.2717798 | F129 | D127N | -1.2717798 | P436 | P436S | -1.1689725 | I114 | I114M | -1.0608163 | P436 | M435V | -1.0113904 | V281 | V281M | -0.90091151 | P445 | P445T | -0.63204202 | E453 | E453K | -0.55627484 | G485 | A484T | -0.26400278 | S286 | S286L | -0.25704268 | R260 | S258R | -0.20028187 | I114 | R112I | -0.046135305 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for CYP7A1 from PDB |
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| Differential gene expression and gene-gene network for CYP7A1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for CYP7A1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0020443 | Hypercholesterolemia | 6 | Biomarker, GeneticVariation, Therapeutic |
| umls:C0008370 | Cholestasis | 5 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CYP7A1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CYP7A1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | HEM | HEME B | 3dax | A | F129 S286 N289 P436 P445 E453 | HEM | HEME B | 3dax | B | F129 S286 N289 P436 P445 E453 | HEM | HEME B | 3sn5 | A | F129 S286 N289 P436 P445 E453 | HEM | HEME B | 3sn5 | B | F129 S286 N289 P436 P445 E453 | HEM | HEME B | 3v8d | A | F129 S286 N289 P436 P445 E453 | HEM | HEME B | 3v8d | B | F129 S286 N289 P436 P445 E453 | K2B | (1R)-4-[(1E,3E,5E,7Z,9E,11Z,13E,15E)-17-HYDROXY-3,7,12,16-TETRAMETHYLHEPTADECA-1,3,5,7,9,11,13,15-OCTAEN-1-YL]-3,5,5-TRIMETHYLCYCLOHEX-3-EN-1-OL | 3sn5 | A | I114 I125 F129 R260 V281 G485 | K2B | (1R)-4-[(1E,3E,5E,7Z,9E,11Z,13E,15E)-17-HYDROXY-3,7,12,16-TETRAMETHYLHEPTADECA-1,3,5,7,9,11,13,15-OCTAEN-1-YL]-3,5,5-TRIMETHYLCYCLOHEX-3-EN-1-OL | 3sn5 | B | I114 I125 F129 R260 V281 G485 | 0GV | 7-KETOCHOLESTEROL | (3BETA,8ALPHA,9BETA)-3-HYDROXYCHOLEST-5-EN-7-ONE | 3v8d | B | I114 I125 F129 R260 V281 G485 | 0GV | 7-KETOCHOLESTEROL | (3BETA,8ALPHA,9BETA)-3-HYDROXYCHOLEST-5-EN-7-ONE | 3v8d | A | I114 I125 R260 V281 G485 |
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| Conservation information for LBS of CYP7A1 |
| Multiple alignments for P22680 in multiple species |
| LBS | AA sequence | # species | Species | A285 | LVVLWASQANT | 1 | Homo sapiens | A285 | LVILWASQANT | 1 | Mus musculus | A285 | LAILWASQANT | 1 | Rattus norvegicus | A293 | ANTIPATFWSL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A450 | PGRLFAVQEIK | 2 | Mus musculus, Rattus norvegicus | A450 | PGRLFAIHEIK | 1 | Homo sapiens | C444 | SGATICPGRLF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E453 | LFAVQEIKQFL | 2 | Mus musculus, Rattus norvegicus | E453 | LFAIHEIKQFL | 1 | Homo sapiens | F129 | NINDTFIKTLQ | 1 | Homo sapiens | F129 | NINKTFNKTLQ | 1 | Mus musculus | F129 | NINNTFTKTLQ | 1 | Rattus norvegicus | F437 | YYYMPFGSGAT | 1 | Homo sapiens | F437 | YFYMPFGSGAT | 1 | Mus musculus | F437 | CFYMPFGSGAT | 1 | Rattus norvegicus | F449 | CPGRLFAVQEI | 2 | Mus musculus, Rattus norvegicus | F449 | CPGRLFAIHEI | 1 | Homo sapiens | G446 | ATICPGRLFAV | 2 | Mus musculus, Rattus norvegicus | G446 | ATICPGRLFAI | 1 | Homo sapiens | G485 | DQSRAGLGILP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H101 | DWKKFHYTTSA | 2 | Mus musculus, Rattus norvegicus | H101 | DWKKFHFATSA | 1 | Homo sapiens | I114 | FGHRSIDPMDG | 1 | Homo sapiens | I114 | FGHRSIDPSDG | 1 | Mus musculus | I114 | FGHRSIDPNDG | 1 | Rattus norvegicus | I125 | NTTENINDTFI | 1 | Homo sapiens | I125 | NTTENINKTFN | 1 | Mus musculus | I125 | NTTENINNTFT | 1 | Rattus norvegicus | I488 | RAGLGILPPLN | 2 | Homo sapiens, Mus musculus | I488 | RAGLGILPPLH | 1 | Rattus norvegicus | L133 | TFIKTLQGHAL | 1 | Homo sapiens | L133 | TFNKTLQGDAL | 1 | Mus musculus | L133 | TFTKTLQGDAL | 1 | Rattus norvegicus | L361 | LSSASLNIRTA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L486 | QSRAGLGILPP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N289 | WASQANTIPAT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N362 | SSASLNIRTAK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P436 | KYYYMPFGSGA | 1 | Homo sapiens | P436 | KYFYMPFGSGA | 1 | Mus musculus | P436 | KCFYMPFGSGA | 1 | Rattus norvegicus | P445 | GATICPGRLFA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R260 | ELIRLRMFLND | 2 | Mus musculus, Rattus norvegicus | R260 | ELISLRMFLND | 1 | Homo sapiens | S105 | FHYTTSAKAFG | 2 | Mus musculus, Rattus norvegicus | S105 | FHFATSAKAFG | 1 | Homo sapiens | S286 | VVLWASQANTI | 1 | Homo sapiens | S286 | VILWASQANTI | 1 | Mus musculus | S286 | AILWASQANTI | 1 | Rattus norvegicus | S360 | RLSSASLNIRT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T278 | LEKAKTHLVVL | 1 | Homo sapiens | T278 | MEKAKTHLVIL | 1 | Mus musculus | T278 | MEKAKTHLAIL | 1 | Rattus norvegicus | T290 | ASQANTIPATF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T442 | FGSGATICPGR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V281 | AKTHLVVLWAS | 1 | Homo sapiens | V281 | AKTHLVILWAS | 1 | Mus musculus | V281 | AKTHLAILWAS | 1 | Rattus norvegicus | W284 | HLVVLWASQAN | 1 | Homo sapiens | W284 | HLVILWASQAN | 1 | Mus musculus | W284 | HLAILWASQAN | 1 | Rattus norvegicus |
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