mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for CYP19A1
Gene summary
Basic gene Info.Gene symbolCYP19A1
Gene namecytochrome P450, family 19, subfamily A, polypeptide 1
CytomapUCSC genome browser: 15q21.1
Type of geneprotein-coding
Descriptionaromatasecytochrome P-450AROMcytochrome P450 19A1cytochrome P450, subfamily XIX (aromatization of androgens)estrogen synthaseestrogen synthetaseflavoprotein-linked monooxygenasemicrosomal monooxygenase
Modification date20141222
dbXrefs MIM : 107910
Ensembl : ENSG00000137869
HPRD : 00488
Vega : OTTHUMG00000131747
ProteinUniProt: P11511
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CYP19A1
BioGPS: 1588
PathwayNCI Pathway Interaction Database: CYP19A1
Pathway Commons: CYP19A1
ContextiHOP: CYP19A1
ligand binding site mutation search in PubMed: CYP19A1
UCL Cancer Institute: CYP19A1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for CYP19A1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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

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.
LBSAAchange of nsSNVRelative stability change
(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

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)
* Left PPI network was created from samples with mutations in the LBS of CYP19A1 and the right PPI network was created from samples without mutations in the LBS of CYP19A1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for CYP19A1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1458155Breast Neoplasms40AlteredExpression, Biomarker, GeneticVariation
umls:C0014175Endometriosis34AlteredExpression, Biomarker, GeneticVariation
umls:C0032460Polycystic Ovary Syndrome23Biomarker, GeneticVariation
umls:C1970109Aromatase deficiency17Biomarker, GeneticVariation
umls:C0029928Ovarian Diseases13Biomarker, GeneticVariation
umls:C0029456Osteoporosis11Biomarker, GeneticVariation
umls:C0033578Prostatic Neoplasms7AlteredExpression, Biomarker, GeneticVariation
umls:C0001418Adenocarcinoma4Biomarker, GeneticVariation
umls:C0021361Infertility, Female3Biomarker, GeneticVariation
umls:C0004352Autistic Disorder2Biomarker, GeneticVariation
umls:C0242341Sexual Infantilism1Biomarker
umls:C0005974Bone Resorption1Biomarker
umls:C0010340Critical Illness1Biomarker
umls:C0085207Diabetes, Gestational1Biomarker
umls:C0014859Esophageal Neoplasms1Biomarker
umls:C0015695Fatty Liver1Biomarker
umls:C0031117Peripheral Nervous System Diseases1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB00184NicotineSmall molecule
ApprovedDB00357AminoglutethimideSmall molecule
ApprovedDB00894TestolactoneSmall molecule
Approved|investigationalDB00990ExemestaneSmall molecule
Approved|investigationalDB01006LetrozoleSmall molecule
Approved|investigationalDB01026KetoconazoleSmall molecule
Approved|investigationalDB01217AnastrozoleSmall molecule
InvestigationalDB023422-MethoxyestradiolSmall molecule
InvestigationalDB05338atamestane-plus-toremifeneSmall molecule
InvestigationalDB05749MPI-674Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CYP19A1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
HEMHEME B3eqmAA306 R375 F430 M447
HEMHEME B3s79AA306 R375 F430 M447
HEMHEME B3s7sAA306 R375 F430 M447
HEMHEME B4gl5AA306 R375 F430 M447
HEMHEME B4gl7AA306 R375 F430 M447
HEMHEME B4kq8AA306 R375 F430 M447
ASDANDROST-4-ENE-3,17-DIONE3eqmAW224 A306 L477
ASDANDROST-4-ENE-3,17-DIONE3s79AW224 A306 L477
G29(6ALPHA,8ALPHA)-6-(BUT-2-YN-1-YLOXY)ANDROSTA-1,4-DIENE- 3,17-DIONE4gl5AW224 A306 L477
ASDANDROST-4-ENE-3,17-DIONE4kq8AW224 A306 L477

Conservation information for LBS of CYP19A1
Multiple alignments for P11511 in multiple species
LBSAA sequence# speciesSpecies
A306LEMLIAAPDTM4Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus
A306LEMVIAAPDTL1Danio rerio
A443AGKYIAMVMMK3Homo sapiens, Mus musculus, Canis lupus familiaris
A443VGKHIAMVMMK1Danio rerio
A443AGKYITMVMMK1Bos taurus
C437FGPRGCAGKYI2Homo sapiens, Mus musculus
C437SGPRSCVGKHI1Danio rerio
C437FGPRSCAGKYI1Canis lupus familiaris
C437FGPRACAGKYI1Bos taurus
D309LIAAPDTMSVS3Homo sapiens, Canis lupus familiaris, Bos taurus
D309VIAAPDTLSIS1Danio rerio
D309LIAAPDTMSVT1Mus musculus
F221KIQGYFDAWQA3Homo sapiens, Canis lupus familiaris, Bos taurus
F221KIHKYFDTWQT1Danio rerio
F221KIQGYFNAWQA1Mus musculus
F430RYFQPFGFGPR4Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus
F430RFFQPFGSGPR1Danio rerio
G431YFQPFGFGPRG2Homo sapiens, Mus musculus
G431FFQPFGSGPRS1Danio rerio
G431YFQPFGFGPRS1Canis lupus familiaris
G431YFQPFGFGPRA1Bos taurus
G436GFGPRGCAGKY2Homo sapiens, Mus musculus
G436GSGPRSCVGKH1Danio rerio
G436GFGPRSCAGKY1Canis lupus familiaris
G436GFGPRACAGKY1Bos taurus
G439PRGCAGKYIAM2Homo sapiens, Mus musculus
G439PRSCVGKHIAM1Danio rerio
G439PRSCAGKYIAM1Canis lupus familiaris
G439PRACAGKYITM1Bos taurus
I132MHEKGIIFNNN2Homo sapiens, Bos taurus
I132MHENGIIFNNN2Mus musculus, Canis lupus familiaris
I132MHEQGIIFNSN1Danio rerio
I133HEKGIIFNNNP2Homo sapiens, Bos taurus
I133HENGIIFNNNP2Mus musculus, Canis lupus familiaris
I133HEQGIIFNSNV1Danio rerio
L152FFTKALSGPGL2Canis lupus familiaris, Bos taurus
L152FFMKALSGPGL1Homo sapiens
L152FYAKALTGPGL1Danio rerio
L152FFMKALTGPGL1Mus musculus
L372QPVVDLVMRKA2Homo sapiens, Bos taurus
L372HPVVDFTMRRA1Danio rerio
L372QPVVDLVMRRA1Mus musculus
L372QPVVNLVMRKA1Canis lupus familiaris
L477QKIHDLSLHPD1Homo sapiens
L477PQTNNLSQQPV1Danio rerio
L477PKKNDLSLHPN1Mus musculus
L477QKKYGLSLHPD1Canis lupus familiaris
L477QKKNDLSLHPD1Bos taurus
M107SMFHVMKHSHY2Mus musculus, Bos taurus
M107SMFHIMKHNHY1Homo sapiens
M107AVYHVLRKSLY1Danio rerio
M107SMFHIMKHSHY1Canis lupus familiaris
M311AAPDTMSVSVF2Canis lupus familiaris, Bos taurus
M311AAPDTMSVSLF1Homo sapiens
M311AAPDTLSISLF1Danio rerio
M311AAPDTMSVTLY1Mus musculus
M364FIYESMRYQPV2Homo sapiens, Canis lupus familiaris
M364FINESMRYQPV2Mus musculus, Bos taurus
M364FINESLRFHPV1Danio rerio
M374VVDLVMRKALE2Homo sapiens, Bos taurus
M374VVDFTMRRALD1Danio rerio
M374VVDLVMRRALE1Mus musculus
M374VVNLVMRKALQ1Canis lupus familiaris
M446YIAMVMMKVVL2Mus musculus, Canis lupus familiaris
M446YIAMVMMKAIL1Homo sapiens
M446HIAMVMMKSIL1Danio rerio
M446YITMVMMKVVL1Bos taurus
M447IAMVMMKVVLV2Mus musculus, Canis lupus familiaris
M447IAMVMMKAILV1Homo sapiens
M447IAMVMMKSILV1Danio rerio
M447ITMVMMKVVLV1Bos taurus
P429YRYFQPFGFGP4Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus
P429SRFFQPFGSGP1Danio rerio
R115NHYSSRFGSKL1Homo sapiens
R115SLYTSRFGSKL1Danio rerio
R115SHYISRFGSKR1Mus musculus
R115SHYSSRFGSKL1Canis lupus familiaris
R115SHYISRFGSKL1Bos taurus
R145LWKTTRPFFMK1Homo sapiens
R145LWKKVRAFYAK1Danio rerio
R145LWRTIRPFFMK1Mus musculus
R145LWKAIRPFFTK1Canis lupus familiaris
R145LWKAVRPFFTK1Bos taurus
R375VDLVMRKALED2Homo sapiens, Bos taurus
R375VDFTMRRALDD1Danio rerio
R375VDLVMRRALED1Mus musculus
R375VNLVMRKALQD1Canis lupus familiaris
R435FGFGPRGCAGK2Homo sapiens, Mus musculus
R435FGSGPRSCVGK1Danio rerio
R435FGFGPRSCAGK1Canis lupus familiaris
R435FGFGPRACAGK1Bos taurus
S314DTMSVSVFFML2Canis lupus familiaris, Bos taurus
S314DTMSVSLFFML1Homo sapiens
S314DTLSISLFFML1Danio rerio
S314DTMSVTLYFML1Mus musculus
S478KIHDLSLHPDE1Homo sapiens
S478QTNNLSQQPVE1Danio rerio
S478KKNDLSLHPNE1Mus musculus
S478KKYGLSLHPDE1Canis lupus familiaris
S478KKNDLSLHPDE1Bos taurus
T310IAAPDTMSVSV2Canis lupus familiaris, Bos taurus
T310IAAPDTMSVSL1Homo sapiens
T310IAAPDTLSISL1Danio rerio
T310IAAPDTMSVTL1Mus musculus
V370RYQPVVDLVMR3Homo sapiens, Mus musculus, Bos taurus
V370RFHPVVDFTMR1Danio rerio
V370RYQPVVNLVMR1Canis lupus familiaris
V373PVVDLVMRKAL2Homo sapiens, Bos taurus
V373PVVDFTMRRAL1Danio rerio
V373PVVDLVMRRAL1Mus musculus
V373PVVNLVMRKAL1Canis lupus familiaris
W141NNPELWKTTRP1Homo sapiens
W141SNVALWKKVRA1Danio rerio
W141NNPSLWRTIRP1Mus musculus
W141NNPTLWKAIRP1Canis lupus familiaris
W141NNPALWKAVRP1Bos taurus
W224GYFDAWQALLL2Canis lupus familiaris, Bos taurus
W224GYFDAWQALLI1Homo sapiens
W224KYFDTWQTVLI1Danio rerio
W224GYFNAWQALLI1Mus musculus

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