mutLBSgeneDB

mutLBSgeneDB
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 FASN
Gene summary
Basic gene Info.Gene symbolFASN
Gene namefatty acid synthase
SynonymsFAS|OA-519|SDR27X1
CytomapUCSC genome browser: 17q25
Type of geneprotein-coding
RefGenesNM_004104.4,
Descriptionshort chain dehydrogenase/reductase family 27X, member 1
Modification date20141207
dbXrefs MIM : 600212
HGNC : HGNC
Ensembl : ENSG00000169710
HPRD : 02567
Vega : OTTHUMG00000178527
ProteinUniProt: P49327
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FASN
BioGPS: 2194
PathwayNCI Pathway Interaction Database: FASN
KEGG: FASN
REACTOME: FASN
Pathway Commons: FASN
ContextiHOP: FASN
ligand binding site mutation search in PubMed: FASN
UCL Cancer Institute: FASN
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0001649osteoblast differentiation16210410


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Ligand binding site mutations for FASN

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
F1766E1768KBRCA1
G500Q502HCOAD1
L1753A1755TCOAD1
F1791H1792YHNSC1
R2026R2026HLUAD1
F1791G1793VLUAD1
R1917R1917CSKCM1
A2363A2363VSTAD1
F2109F2109LSTAD1
R2428R2428HUCEC1
Y2034N2033DUCEC1
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 FASN
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
F1791G1793V0.32376397
L1753A1755T-1.1921025
R1917R1917C-1.1421166
R2428R2428H-0.90563631
R2026R2026H-0.86877958
F1766E1768K-0.8268441
Y2034N2033D-0.71993448
A2363A2363V-0.47323043
F1791H1792Y-0.40120917
F2109F2109L-0.18272053
G500Q502H-0.14404941
(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 FASN from PDB

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


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Phenotype information for FASN
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C2239176Carcinoma, Hepatocellular20Biomarker
umls:C0028754Obesity17Biomarker, GeneticVariation
umls:C1458155Breast Neoplasms12AlteredExpression, Biomarker
umls:C0025202Melanoma9Biomarker
umls:C0027651Neoplasms6AlteredExpression, Biomarker
umls:C0023827Liposarcoma3Biomarker, Therapeutic
umls:C0919267Ovarian Neoplasms2Biomarker
umls:C3714756Intellectual Disability1Biomarker
umls:C0022661Kidney Failure, Chronic1Biomarker

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

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Pharmacological information for FASN
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
ApprovedDB01034CeruleninSmall molecule
Approved|investigationalDB01083OrlistatSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of FASN go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
DH9(2S,3S,5S)-5-[(N-FORMYL-L-LEUCYL)OXY]-2-HEXYL-3-HYDROXYHEXADECANOIC ACID2px6AA2363
DH9(2S,3S,5S)-5-[(N-FORMYL-L-LEUCYL)OXY]-2-HEXYL-3-HYDROXYHEXADECANOIC ACID2px6BA2363
TCLTRICLOSAN4w9nBF1766 F1791
TCLTRICLOSAN4w9nCF1766 F1791
COACOENZYME A2jfkAG500
TCLTRICLOSAN4w9nAL1753 F1766 F1791
TCLTRICLOSAN4w9nDL1753 F1766 F1791
NDPNADPH4pivAR1917 Y2034
NDPNADPH4pivBR1917 Y2034
2W44-[4-(1-BENZOFURAN-5-YL)PHENYL]-5-{[(3S)-1- (CYCLOPROPYLCARBONYL)PYRROLIDIN-3-YL]METHYL}-2,4- DIHYDRO-3H-1,2,4-TRIAZOL-3-ONE4pivAR2026 Y2034 F2109
2W44-[4-(1-BENZOFURAN-5-YL)PHENYL]-5-{[(3S)-1- (CYCLOPROPYLCARBONYL)PYRROLIDIN-3-YL]METHYL}-2,4- DIHYDRO-3H-1,2,4-TRIAZOL-3-ONE4pivBR2026 Y2034 F2109
7FAMETHYL (S)-(6Z,9Z)-OCTADECA-6,9,12-TRIEN-1-YLPHOSPHONOFLUORIDATE3tjmAR2428


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Conservation information for LBS of FASN
Multiple alignments for P49327 in multiple species
LBSAA sequence# speciesSpecies
A1972GVFNLAMVLRD2Mus musculus, Rattus norvegicus
A1972GVFNLAVVLRD1Homo sapiens
A1972GIFNLAVVLRD1Bos taurus
A2363GCEAEAETEAI1Homo sapiens
A2363GCEAEAEAEAM1Bos taurus
A2363GCEAEAEAEAL1Mus musculus
A2363GCEAEAEAEAI1Rattus norvegicus
A2367EAETEAICFFV1Homo sapiens
A2367EAEAEAMCFFM1Bos taurus
A2367EAEAEALCFFI1Mus musculus
A2367EAEAEAICFFI1Rattus norvegicus
A2430YKLRAAEQYTP1Homo sapiens
A2430HKLRAAEEYTP1Bos taurus
A2430HKLRAADQYKP1Mus musculus
A2430YKLRAADQYKP1Rattus norvegicus
E2251LVHPIEGSTTV3Homo sapiens, Bos taurus, Mus musculus
E2251LVHPIEGSITV1Rattus norvegicus
E2366AEAETEAICFF1Homo sapiens
E2366AEAEAEAMCFF1Bos taurus
E2366AEAEAEALCFF1Mus musculus
E2366AEAEAEAICFF1Rattus norvegicus
E2431KLRAADQYKPK2Mus musculus, Rattus norvegicus
E2431KLRAAEQYTPK1Homo sapiens
E2431KLRAAEEYTPR1Bos taurus
F1766AQHGRFLEIGK3Bos taurus, Mus musculus, Rattus norvegicus
F1766ATHGRFLEIGK1Homo sapiens
F1791LKNVTFHGILL3Bos taurus, Mus musculus, Rattus norvegicus
F1791LKNVTFHGVLL1Homo sapiens
F1896GGLGGFGLELA4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
F2019DYFVAFSSVSC2Mus musculus, Rattus norvegicus
F2019DYFVVFSSVSC1Homo sapiens
F2019DYFEVFSSVSC1Bos taurus
F2109AVLSSFVLAEK2Mus musculus, Rattus norvegicus
F2109MVLSSFVLAE-1Homo sapiens
F2109PVLSSFVLAE-1Bos taurus
F2370TEAICFFVQQF1Homo sapiens
F2370AEAMCFFMQQF1Bos taurus
F2370AEALCFFIKQF1Mus musculus
F2370AEAICFFIKQF1Rattus norvegicus
F2423FAARSFYYKLR1Homo sapiens
F2423FAARSFYHKLR1Bos taurus
F2423FAAVSFYHKLR1Mus musculus
F2423FAAVSFYYKLR1Rattus norvegicus
G1891SYIITGGLGGF3Bos taurus, Mus musculus, Rattus norvegicus
G1891SYIIAGGLGGF1Homo sapiens
G1894ITGGLGGFGLE3Bos taurus, Mus musculus, Rattus norvegicus
G1894IAGGLGGFGLE1Homo sapiens
G1895TGGLGGFGLEL3Bos taurus, Mus musculus, Rattus norvegicus
G1895AGGLGGFGLEL1Homo sapiens
G2027VSCGRGNAGQS2Homo sapiens, Rattus norvegicus
G2027VSCGRGNAGQT2Bos taurus, Mus musculus
G2061LAVQWGAIGDV3Homo sapiens, Mus musculus, Rattus norvegicus
G2061LAVQWGAIADV1Bos taurus
G2067AIGDVGILVET1Homo sapiens
G2067AIADVGLLMEL1Bos taurus
G2067AIGDVGIVLEA1Mus musculus
G2067AIGDVGIILEA1Rattus norvegicus
G2339LFLFDGSHTYV2Mus musculus, Rattus norvegicus
G2339LFLFDGSPTYV1Homo sapiens
G2339LFLFDGSHTFV1Bos taurus
G500ICSGMGTQWRG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
H1263ALLNTQPMLQL2Mus musculus, Rattus norvegicus
H1263GLLSPHPLLQL1Homo sapiens
H1263TLLNTQPLLEL1Bos taurus
H2481IIEGDHRTLLE3Bos taurus, Mus musculus, Rattus norvegicus
H2481VIEGDHRTLLE1Homo sapiens
I1784PLGMAIFLKNV4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
I2063VQWGAIGDVGI3Homo sapiens, Mus musculus, Rattus norvegicus
I2063VQWGAIADVGL1Bos taurus
I2068IGDVGILVETM1Homo sapiens
I2068IADVGLLMELK1Bos taurus
I2068IGDVGIVLEAM1Mus musculus
I2068IGDVGIILEAM1Rattus norvegicus
I2250FLVHPIEGSTT3Homo sapiens, Bos taurus, Mus musculus
I2250FLVHPIEGSIT1Rattus norvegicus
K1995DVNKPKYNGTL3Bos taurus, Mus musculus, Rattus norvegicus
K1995DVCKPKYSGTL1Homo sapiens
K673EGVFAKEVRTG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
L1753LAEEKLQASVR4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
L1780SNNHPLGMAIF2Mus musculus, Rattus norvegicus
L1780SQNHPLGMAIF1Homo sapiens
L1780SKNHPLGMAIF1Bos taurus
L1971GGVFNLAMVLR2Mus musculus, Rattus norvegicus
L1971GGVFNLAVVLR1Homo sapiens
L1971GGIFNLAVVLR1Bos taurus
L1975NLAMVLRDAML2Mus musculus, Rattus norvegicus
L1975NLAVVLRDGLL1Homo sapiens
L1975NLAVVLRDAML1Bos taurus
L2222LNLSTLLVNPE2Bos taurus, Mus musculus
L2222LNLRSLLVNPE1Homo sapiens
L2222LNLSILLVNPE1Rattus norvegicus
L2427SFYYKLRAAEQ1Homo sapiens
L2427SFYHKLRAAEE1Bos taurus
L2427SFYHKLRAADQ1Mus musculus
L2427SFYYKLRAADQ1Rattus norvegicus
N1945LVSTSNVSSLE2Mus musculus, Rattus norvegicus
N1945QVSTSNISSLE1Homo sapiens
N1945LVSTSDVSTLD1Bos taurus
N2028SCGRGNAGQSN2Homo sapiens, Rattus norvegicus
N2028SCGRGNAGQTN2Bos taurus, Mus musculus
P1264LLNTQPMLQLE2Mus musculus, Rattus norvegicus
P1264LLSPHPLLQLS1Homo sapiens
P1264LLNTQPLLELD1Bos taurus
P1994QDVNKPKYNGT3Bos taurus, Mus musculus, Rattus norvegicus
P1994QDVCKPKYSGT1Homo sapiens
P2249LFLVHPIEGST3Homo sapiens, Bos taurus, Mus musculus
P2249LFLVHPIEGSI1Rattus norvegicus
Q2374CFFVQQFTDME1Homo sapiens
Q2374CFFMQQFTEAE1Bos taurus
Q2374CFFIKQFLDVE1Mus musculus
Q2374CFFIKQFVDAE1Rattus norvegicus
R1917LVLTSRSGIRT4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
R2026SVSCGRGNAGQ4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
R2428FYYKLRAAEQY1Homo sapiens
R2428FYHKLRAAEEY1Bos taurus
R2428FYHKLRAADQY1Mus musculus
R2428FYYKLRAADQY1Rattus norvegicus
R2482IEGDHRTLLEG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
R676FAKEVRTGGMA2Homo sapiens, Bos taurus
R676FAKEVRTGGLA2Mus musculus, Rattus norvegicus
S1916KLVLTSRSGIR2Homo sapiens, Bos taurus
S1916RLVLTSRSGIR2Mus musculus, Rattus norvegicus
S1918VLTSRSGIRTG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
S1947STSNVSSLEGA2Mus musculus, Rattus norvegicus
S1947STSNISSLEGA1Homo sapiens
S1947STSDVSTLDGT1Bos taurus
S2020YFVAFSSVSCG2Mus musculus, Rattus norvegicus
S2020YFVVFSSVSCG1Homo sapiens
S2020YFEVFSSVSCG1Bos taurus
S2021FVAFSSVSCGR2Mus musculus, Rattus norvegicus
S2021FVVFSSVSCGR1Homo sapiens
S2021FEVFSSVSCGR1Bos taurus
S2023VFSSVSCGRGN2Homo sapiens, Bos taurus
S2023AFSSVSCGRGN2Mus musculus, Rattus norvegicus
S2081NDTIVSGTLPQ1Homo sapiens
S2081KDKAIGGTLPQ1Bos taurus
S2081NDTVIGGTLPQ1Mus musculus
S2081NDTVVGGTLPQ1Rattus norvegicus
S2308RVAGYSYGACV1Homo sapiens
S2308RIAGYSYGACV1Bos taurus
S2308RIAGYSFGACV1Mus musculus
S2308RVAGYSFGACV1Rattus norvegicus
T1915QKLVLTSRSGI2Homo sapiens, Bos taurus
T1915QRLVLTSRSGI2Mus musculus, Rattus norvegicus
T2083TIVSGTLPQRM1Homo sapiens
T2083KAIGGTLPQRI1Bos taurus
T2083TVIGGTLPQRI1Mus musculus
T2083TVVGGTLPQRI1Rattus norvegicus
V1789IFLKNVTFHGI3Bos taurus, Mus musculus, Rattus norvegicus
V1789IFLKNVTFHGV1Homo sapiens
V1973VFNLAMVLRDA2Mus musculus, Rattus norvegicus
V1973VFNLAVVLRDG1Homo sapiens
V1973IFNLAVVLRDA1Bos taurus
V1974FNLAMVLRDAM2Mus musculus, Rattus norvegicus
V1974FNLAVVLRDGL1Homo sapiens
V1974FNLAVVLRDAM1Bos taurus
V2022VAFSSVSCGRG2Mus musculus, Rattus norvegicus
V2022VVFSSVSCGRG1Homo sapiens
V2022EVFSSVSCGRG1Bos taurus
V2344GSHTYVLAYTQ2Mus musculus, Rattus norvegicus
V2344GSPTYVLAYTQ1Homo sapiens
V2344GSHTFVMAYTQ1Bos taurus
V675VFAKEVRTGGM2Homo sapiens, Bos taurus
V675VFAKEVRTGGL2Mus musculus, Rattus norvegicus
W2060GLAVQWGAIGD3Homo sapiens, Mus musculus, Rattus norvegicus
W2060GLAVQWGAIAD1Bos taurus
Y2034AGQSNYGFANS2Homo sapiens, Rattus norvegicus
Y2034AGQTNYGFANS2Bos taurus, Mus musculus
Y2309VAGYSYGACVA1Homo sapiens
Y2309IAGYSYGACVA1Bos taurus
Y2309IAGYSFGACVA1Mus musculus
Y2309VAGYSFGACVA1Rattus norvegicus
Y2351AYTQSYRAKLT2Homo sapiens, Rattus norvegicus
Y2351AYTQSYRAKLN1Bos taurus
Y2351AYTQSYRAKMT1Mus musculus


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