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mutLBSgeneDB |
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| Gene summary for CYP19A1 |
 Gene summary |
| Basic gene Info. | Gene symbol | CYP19A1 |
| Gene name | cytochrome P450, family 19, subfamily A, polypeptide 1 | |
| Synonyms | ARO|ARO1|CPV1|CYAR|CYP19|CYPXIX|P-450AROM | |
| Cytomap | UCSC genome browser: 15q21.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000103.3, NM_031226.2, | |
| Description | aromatasecytochrome P-450AROMcytochrome P450 19A1cytochrome P450, subfamily XIX (aromatization of androgens)estrogen synthaseestrogen synthetaseflavoprotein-linked monooxygenasemicrosomal monooxygenase | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 107910 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000137869 | ||
| HPRD : 00488 | ||
| Vega : OTTHUMG00000131747 | ||
| Protein | UniProt: P11511 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CYP19A1 | |
| BioGPS: 1588 | ||
| Pathway | NCI Pathway Interaction Database: CYP19A1 | |
| KEGG: CYP19A1 | ||
| REACTOME: CYP19A1 | ||
| Pathway Commons: CYP19A1 | ||
| Context | iHOP: CYP19A1 | |
| ligand binding site mutation search in PubMed: CYP19A1 | ||
| UCL Cancer Institute: CYP19A1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for CYP19A1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L477 | D476N | COAD | 1 | F430 | F430L | LUSC | 1 | A306 | A306T | PRAD | 1 | M447 | A449V | STAD | 1 | R375 | R375C | STAD | 1 | W224 | A223T | 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 CYP19A1 |
| 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 | M447 | A449V | 0.045865606 | R375 | R375C | -0.98347671 | W224 | A223T | -0.86946926 | A306 | A306T | -0.80665747 | L477 | D476N | -0.53732148 | F430 | F430L | -0.11130232 |
| (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 CYP19A1 from PDB |
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| Differential gene expression and gene-gene network for CYP19A1 |
| 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 CYP19A1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1458155 | Breast Neoplasms | 40 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0014175 | Endometriosis | 34 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0032460 | Polycystic Ovary Syndrome | 23 | Biomarker, GeneticVariation |
| umls:C1970109 | Aromatase deficiency | 17 | Biomarker, GeneticVariation |
| umls:C0029928 | Ovarian Diseases | 13 | Biomarker, GeneticVariation |
| umls:C0029456 | Osteoporosis | 11 | Biomarker, GeneticVariation |
| umls:C0033578 | Prostatic Neoplasms | 7 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0001418 | Adenocarcinoma | 4 | Biomarker, GeneticVariation |
| umls:C0021361 | Infertility, Female | 3 | Biomarker, GeneticVariation |
| umls:C0004352 | Autistic Disorder | 2 | Biomarker, GeneticVariation |
| umls:C0020619 | Hypogonadism | 2 | Biomarker |
| umls:C0242341 | Sexual Infantilism | 1 | Biomarker |
| umls:C0002453 | Amenorrhea | 1 | Biomarker |
| umls:C0005974 | Bone Resorption | 1 | Biomarker |
| umls:C0010340 | Critical Illness | 1 | Biomarker |
| umls:C0085207 | Diabetes, Gestational | 1 | Biomarker |
| umls:C0014859 | Esophageal Neoplasms | 1 | Biomarker |
| umls:C0015695 | Fatty Liver | 1 | Biomarker |
| umls:C0016059 | Fibrosis | 1 | Biomarker |
| umls:C0020635 | Hypopituitarism | 1 | Biomarker |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CYP19A1 |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00184 | Nicotine | Small molecule |  |
| Approved | DB00357 | Aminoglutethimide | Small molecule |  |
| Approved | DB00894 | Testolactone | Small molecule |  |
| Approved|investigational | DB00990 | Exemestane | Small molecule |  |
| Approved|investigational | DB01006 | Letrozole | Small molecule |  |
| Approved|investigational | DB01026 | Ketoconazole | Small molecule |  |
| Approved|investigational | DB01217 | Anastrozole | Small molecule |  |
| Investigational | DB02342 | 2-Methoxyestradiol | Small molecule |  |
| Investigational | DB05338 | atamestane-plus-toremifene | Small molecule |  |
| Investigational | DB05749 | MPI-674 | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CYP19A1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | HEM | HEME B | 3eqm | A | A306 R375 F430 M447 | HEM | HEME B | 3s79 | A | A306 R375 F430 M447 | HEM | HEME B | 3s7s | A | A306 R375 F430 M447 | HEM | HEME B | 4gl5 | A | A306 R375 F430 M447 | HEM | HEME B | 4gl7 | A | A306 R375 F430 M447 | HEM | HEME B | 4kq8 | A | A306 R375 F430 M447 | ASD | ANDROST-4-ENE-3,17-DIONE | 3eqm | A | W224 A306 L477 | ASD | ANDROST-4-ENE-3,17-DIONE | 3s79 | A | W224 A306 L477 | EXM | EXEMESTANE, AROMASIN | (8ALPHA,10ALPHA,13ALPHA)-6-METHYLIDENEANDROSTA-1,4- DIENE-3,17-DIONE | 3s7s | A | W224 A306 L477 | G29 | (6ALPHA,8ALPHA)-6-(BUT-2-YN-1-YLOXY)ANDROSTA-1,4-DIENE- 3,17-DIONE | 4gl5 | A | W224 A306 L477 | 0XJ | (6ALPHA,8ALPHA)-6-(PENT-2-YN-1-YLOXY)ANDROSTA-1,4- DIENE-3,17-DIONE | 4gl7 | A | W224 A306 L477 | ASD | ANDROST-4-ENE-3,17-DIONE | 4kq8 | A | W224 A306 L477 |
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| Conservation information for LBS of CYP19A1 |
| Multiple alignments for P11511 in multiple species |
| LBS | AA sequence | # species | Species | A306 | LEMLIAAPDTM | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | A306 | LEMVIAAPDTL | 1 | Danio rerio | A443 | AGKYIAMVMMK | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | A443 | VGKHIAMVMMK | 1 | Danio rerio | A443 | AGKYITMVMMK | 1 | Bos taurus | C437 | FGPRGCAGKYI | 2 | Homo sapiens, Mus musculus | C437 | SGPRSCVGKHI | 1 | Danio rerio | C437 | FGPRSCAGKYI | 1 | Canis lupus familiaris | C437 | FGPRACAGKYI | 1 | Bos taurus | D309 | LIAAPDTMSVS | 3 | Homo sapiens, Canis lupus familiaris, Bos taurus | D309 | VIAAPDTLSIS | 1 | Danio rerio | D309 | LIAAPDTMSVT | 1 | Mus musculus | F221 | KIQGYFDAWQA | 3 | Homo sapiens, Canis lupus familiaris, Bos taurus | F221 | KIHKYFDTWQT | 1 | Danio rerio | F221 | KIQGYFNAWQA | 1 | Mus musculus | F430 | RYFQPFGFGPR | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | F430 | RFFQPFGSGPR | 1 | Danio rerio | G431 | YFQPFGFGPRG | 2 | Homo sapiens, Mus musculus | G431 | FFQPFGSGPRS | 1 | Danio rerio | G431 | YFQPFGFGPRS | 1 | Canis lupus familiaris | G431 | YFQPFGFGPRA | 1 | Bos taurus | G436 | GFGPRGCAGKY | 2 | Homo sapiens, Mus musculus | G436 | GSGPRSCVGKH | 1 | Danio rerio | G436 | GFGPRSCAGKY | 1 | Canis lupus familiaris | G436 | GFGPRACAGKY | 1 | Bos taurus | G439 | PRGCAGKYIAM | 2 | Homo sapiens, Mus musculus | G439 | PRSCVGKHIAM | 1 | Danio rerio | G439 | PRSCAGKYIAM | 1 | Canis lupus familiaris | G439 | PRACAGKYITM | 1 | Bos taurus | I132 | MHEKGIIFNNN | 2 | Homo sapiens, Bos taurus | I132 | MHENGIIFNNN | 2 | Mus musculus, Canis lupus familiaris | I132 | MHEQGIIFNSN | 1 | Danio rerio | I133 | HEKGIIFNNNP | 2 | Homo sapiens, Bos taurus | I133 | HENGIIFNNNP | 2 | Mus musculus, Canis lupus familiaris | I133 | HEQGIIFNSNV | 1 | Danio rerio | L152 | FFTKALSGPGL | 2 | Canis lupus familiaris, Bos taurus | L152 | FFMKALSGPGL | 1 | Homo sapiens | L152 | FYAKALTGPGL | 1 | Danio rerio | L152 | FFMKALTGPGL | 1 | Mus musculus | L372 | QPVVDLVMRKA | 2 | Homo sapiens, Bos taurus | L372 | HPVVDFTMRRA | 1 | Danio rerio | L372 | QPVVDLVMRRA | 1 | Mus musculus | L372 | QPVVNLVMRKA | 1 | Canis lupus familiaris | L477 | QKIHDLSLHPD | 1 | Homo sapiens | L477 | PQTNNLSQQPV | 1 | Danio rerio | L477 | PKKNDLSLHPN | 1 | Mus musculus | L477 | QKKYGLSLHPD | 1 | Canis lupus familiaris | L477 | QKKNDLSLHPD | 1 | Bos taurus | M107 | SMFHVMKHSHY | 2 | Mus musculus, Bos taurus | M107 | SMFHIMKHNHY | 1 | Homo sapiens | M107 | AVYHVLRKSLY | 1 | Danio rerio | M107 | SMFHIMKHSHY | 1 | Canis lupus familiaris | M311 | AAPDTMSVSVF | 2 | Canis lupus familiaris, Bos taurus | M311 | AAPDTMSVSLF | 1 | Homo sapiens | M311 | AAPDTLSISLF | 1 | Danio rerio | M311 | AAPDTMSVTLY | 1 | Mus musculus | M364 | FIYESMRYQPV | 2 | Homo sapiens, Canis lupus familiaris | M364 | FINESMRYQPV | 2 | Mus musculus, Bos taurus | M364 | FINESLRFHPV | 1 | Danio rerio | M374 | VVDLVMRKALE | 2 | Homo sapiens, Bos taurus | M374 | VVDFTMRRALD | 1 | Danio rerio | M374 | VVDLVMRRALE | 1 | Mus musculus | M374 | VVNLVMRKALQ | 1 | Canis lupus familiaris | M446 | YIAMVMMKVVL | 2 | Mus musculus, Canis lupus familiaris | M446 | YIAMVMMKAIL | 1 | Homo sapiens | M446 | HIAMVMMKSIL | 1 | Danio rerio | M446 | YITMVMMKVVL | 1 | Bos taurus | M447 | IAMVMMKVVLV | 2 | Mus musculus, Canis lupus familiaris | M447 | IAMVMMKAILV | 1 | Homo sapiens | M447 | IAMVMMKSILV | 1 | Danio rerio | M447 | ITMVMMKVVLV | 1 | Bos taurus | P429 | YRYFQPFGFGP | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | P429 | SRFFQPFGSGP | 1 | Danio rerio | R115 | NHYSSRFGSKL | 1 | Homo sapiens | R115 | SLYTSRFGSKL | 1 | Danio rerio | R115 | SHYISRFGSKR | 1 | Mus musculus | R115 | SHYSSRFGSKL | 1 | Canis lupus familiaris | R115 | SHYISRFGSKL | 1 | Bos taurus | R145 | LWKTTRPFFMK | 1 | Homo sapiens | R145 | LWKKVRAFYAK | 1 | Danio rerio | R145 | LWRTIRPFFMK | 1 | Mus musculus | R145 | LWKAIRPFFTK | 1 | Canis lupus familiaris | R145 | LWKAVRPFFTK | 1 | Bos taurus | R375 | VDLVMRKALED | 2 | Homo sapiens, Bos taurus | R375 | VDFTMRRALDD | 1 | Danio rerio | R375 | VDLVMRRALED | 1 | Mus musculus | R375 | VNLVMRKALQD | 1 | Canis lupus familiaris | R435 | FGFGPRGCAGK | 2 | Homo sapiens, Mus musculus | R435 | FGSGPRSCVGK | 1 | Danio rerio | R435 | FGFGPRSCAGK | 1 | Canis lupus familiaris | R435 | FGFGPRACAGK | 1 | Bos taurus | S314 | DTMSVSVFFML | 2 | Canis lupus familiaris, Bos taurus | S314 | DTMSVSLFFML | 1 | Homo sapiens | S314 | DTLSISLFFML | 1 | Danio rerio | S314 | DTMSVTLYFML | 1 | Mus musculus | S478 | KIHDLSLHPDE | 1 | Homo sapiens | S478 | QTNNLSQQPVE | 1 | Danio rerio | S478 | KKNDLSLHPNE | 1 | Mus musculus | S478 | KKYGLSLHPDE | 1 | Canis lupus familiaris | S478 | KKNDLSLHPDE | 1 | Bos taurus | T310 | IAAPDTMSVSV | 2 | Canis lupus familiaris, Bos taurus | T310 | IAAPDTMSVSL | 1 | Homo sapiens | T310 | IAAPDTLSISL | 1 | Danio rerio | T310 | IAAPDTMSVTL | 1 | Mus musculus | V370 | RYQPVVDLVMR | 3 | Homo sapiens, Mus musculus, Bos taurus | V370 | RFHPVVDFTMR | 1 | Danio rerio | V370 | RYQPVVNLVMR | 1 | Canis lupus familiaris | V373 | PVVDLVMRKAL | 2 | Homo sapiens, Bos taurus | V373 | PVVDFTMRRAL | 1 | Danio rerio | V373 | PVVDLVMRRAL | 1 | Mus musculus | V373 | PVVNLVMRKAL | 1 | Canis lupus familiaris | W141 | NNPELWKTTRP | 1 | Homo sapiens | W141 | SNVALWKKVRA | 1 | Danio rerio | W141 | NNPSLWRTIRP | 1 | Mus musculus | W141 | NNPTLWKAIRP | 1 | Canis lupus familiaris | W141 | NNPALWKAVRP | 1 | Bos taurus | W224 | GYFDAWQALLL | 2 | Canis lupus familiaris, Bos taurus | W224 | GYFDAWQALLI | 1 | Homo sapiens | W224 | KYFDTWQTVLI | 1 | Danio rerio | W224 | GYFNAWQALLI | 1 | Mus musculus |
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