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 SERPINC1
Gene summary
Basic gene Info.Gene symbolSERPINC1
Gene nameserpin peptidase inhibitor, clade C (antithrombin), member 1
SynonymsAT3|AT3D|ATIII|THPH7
CytomapUCSC genome browser: 1q25.1
Type of geneprotein-coding
RefGenesNM_000488.3,
Descriptionantithrombin-IIIserine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1
Modification date20141207
dbXrefs MIM : 107300
HGNC : HGNC
Ensembl : ENSG00000117601
HPRD : 00122
Vega : OTTHUMG00000037276
ProteinUniProt: P01008
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SERPINC1
BioGPS: 462
PathwayNCI Pathway Interaction Database: SERPINC1
KEGG: SERPINC1
REACTOME: SERPINC1
Pathway Commons: SERPINC1
ContextiHOP: SERPINC1
ligand binding site mutation search in PubMed: SERPINC1
UCL Cancer Institute: SERPINC1
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


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Ligand binding site mutations for SERPINC1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
E145E145QBLCA1
V222W221LLUAD1
R45R45LLUAD1
R229G228VLUAD1
T122L124QLUAD1
F154F153LLUSC1
A118A118TSKCM1
E145E145KSKCM1
A75P73SSKCM1
H401H401NSKCM1
L405L405RSTAD1
R79R79HUCEC1
V233D232NUCEC1
K43K43NUCEC1
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 SERPINC1
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
R79R79H-1.4186187
A75P73S-1.4075334
K43K43N-1.4025565
E145E145Q-1.2770233
E145E145K-1.2417638
T122L124Q-1.0724242
L405L405R-0.99120112
R229G228V-0.86213304
V233D232N-0.74479886
H401H401N-0.67378259
F154F153L-0.66442246
V222W221L-0.59922181
A118A118T-0.58068332
R45R45L-0.51976678
(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 SERPINC1 from PDB

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Differential gene expression and gene-gene network for SERPINC1
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 SERPINC1 and the right PPI network was created from samples without mutations in the LBS of SERPINC1. 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 SERPINC1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0272375Antithrombin III Deficiency43Biomarker, GeneticVariation
umls:C0042487Venous Thrombosis12Biomarker, GeneticVariation
umls:C0040053Thrombosis6Biomarker, GeneticVariation, Therapeutic
umls:C0012739Disseminated Intravascular Coagulation4Biomarker, Therapeutic
umls:C0005779Blood Coagulation Disorders3Biomarker
umls:C1861172Venous Thromboembolism2Biomarker, GeneticVariation
umls:C0948089Acute Coronary Syndrome1Therapeutic
umls:C0270611Brain Injuries1Therapeutic
umls:C2937358Cerebral Hemorrhage1Biomarker
umls:C0018674Craniocerebral Trauma1Biomarker
umls:C0752143Intracranial Thrombosis1Biomarker
umls:C0162557Liver Failure, Acute1Biomarker
umls:C0027726Nephrotic Syndrome1Biomarker
umls:C0035222Respiratory Distress Syndrome, Adult1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
33053R79HLikely benign;PathogenicGermlineMedGen:C0272375
OMIM:613118
SNOMED CT:36351005
MedGen:CN221564

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Pharmacological information for SERPINC1
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
Approved|withdrawnDB00407ArdeparinSmall molecule
Approved|investigationalDB00569Fondaparinux sodiumSmall molecule
Approved|investigationalDB01109HeparinSmall molecule
ApprovedDB01225EnoxaparinSmall molecule
ExperimentalDB04464N-FormylmethionineSmall molecule
InvestigationalDB05361SR-123781ASmall molecule
Approved|investigationalDB06271SulodexideBiotech
ApprovedDB06779DalteparinSmall molecule
ApprovedDB06822TinzaparinSmall molecule
ApprovedDB08813NadroparinSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of SERPINC1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of SERPINC1
Multiple alignments for P01008 in multiple species
LBSAA sequence# speciesSpecies
A118LSISTAFAMTK3Homo sapiens, Bos taurus, Mus musculus
A118LSLHAALALLG1Oryza sativa subsp. japonica
A238VIPSEAINELT1Homo sapiens
A238FLPKDAVDRAT1Oryza sativa subsp. japonica
A238VIPPQAINEFT1Bos taurus
A238VIPQGAINELT1Mus musculus
A399LYVSDAFHKAF3Homo sapiens, Bos taurus, Mus musculus
A399IVVSAVYHESF1Oryza sativa subsp. japonica
A403DAFHKAFLEVN3Homo sapiens, Bos taurus, Mus musculus
A403AVYHESFVEVN1Oryza sativa subsp. japonica
A75QKIPEATNRRV1Homo sapiens
A75K----------1Oryza sativa subsp. japonica
A75QKIPGATNRRV1Bos taurus
A75QKVPEATNRRV1Mus musculus
C40PV-DICTAKPR1Homo sapiens
C40-----------1Oryza sativa subsp. japonica
C40PVEDVCTAKPR1Bos taurus
C40PVDDICIAKPR1Mus musculus
D393GR--DDLYVSD2Homo sapiens, Mus musculus
D393SPEAEKIVVSA1Oryza sativa subsp. japonica
D393GR--SDLYVSD1Bos taurus
D398DLYVSDAFHKA3Homo sapiens, Bos taurus, Mus musculus
D398KIVVSAVYHES1Oryza sativa subsp. japonica
E145FDTISEKTSDQ3Homo sapiens, Bos taurus, Mus musculus
E145PAGGPAHAALA1Oryza sativa subsp. japonica
E406HKAFLEVNEEG3Homo sapiens, Bos taurus, Mus musculus
E406HESFVEVNEEG1Oryza sativa subsp. japonica
F109DNDNIFLSPLS2Homo sapiens, Mus musculus
F109---NLAVSPLS1Oryza sativa subsp. japonica
F109NNDNIFLSPLS1Bos taurus
F119SISTAFAMTKL3Homo sapiens, Bos taurus, Mus musculus
F119SLHAALALLGA1Oryza sativa subsp. japonica
F154DQIHFFFAKLN3Homo sapiens, Bos taurus, Mus musculus
F154LASHVALCSLA1Oryza sativa subsp. japonica
F253VNTIYFKGLWK3Homo sapiens, Bos taurus, Mus musculus
F253GNALYFKGDWE1Oryza sativa subsp. japonica
F306VLELPF-----3Homo sapiens, Bos taurus, Mus musculus
F306VLRLPYARGGR1Oryza sativa subsp. japonica
F400YVSDAFHKAFL3Homo sapiens, Bos taurus, Mus musculus
F400VVSAVYHESFV1Oryza sativa subsp. japonica
F404AFHKAFLEVNE3Homo sapiens, Bos taurus, Mus musculus
F404VYHESFVEVNE1Oryza sativa subsp. japonica
F454LNTIIFMGRVA3Homo sapiens, Bos taurus, Mus musculus
F454TGVVVFAGQVT1Oryza sativa subsp. japonica
G255TIYFKGLWKSK3Homo sapiens, Bos taurus, Mus musculus
G255ALYFKGDWESK1Oryza sativa subsp. japonica
H401VSDAFHKAFLE3Homo sapiens, Bos taurus, Mus musculus
H401VSAVYHESFVE1Oryza sativa subsp. japonica
I115LSPLSISTAFA3Homo sapiens, Bos taurus, Mus musculus
I115VSPLSLHAALA1Oryza sativa subsp. japonica
I230KTEGRITDVIP2Homo sapiens, Bos taurus
I230ATAGRIKDFLP1Oryza sativa subsp. japonica
I230KTEGRIKDVIP1Mus musculus
I234RITDVIPSEAI1Homo sapiens
I234RIKDFLPKDAV1Oryza sativa subsp. japonica
I234RITDVIPPQAI1Bos taurus
I234RIKDVIPQGAI1Mus musculus
I251VLVNTIYFKGL3Homo sapiens, Bos taurus, Mus musculus
I251VLGNALYFKGD1Oryza sativa subsp. japonica
I386SKLPGIVAEGR1Homo sapiens
I386ADLSEMVESSP1Oryza sativa subsp. japonica
I386SRLPGIVAEGR1Bos taurus
I386SQLPGIVAGGR1Mus musculus
K146DTISEKTSDQI3Homo sapiens, Bos taurus, Mus musculus
K146AGGPAHAALAS1Oryza sativa subsp. japonica
K157HFFFAKLNCRL3Homo sapiens, Bos taurus, Mus musculus
K157HVALCSLADDS1Oryza sativa subsp. japonica
K254NTIYFKGLWKS3Homo sapiens, Bos taurus, Mus musculus
K254NALYFKGDWES1Oryza sativa subsp. japonica
K402SDAFHKAFLEV3Homo sapiens, Bos taurus, Mus musculus
K402SAVYHESFVEV1Oryza sativa subsp. japonica
K43DICTAKPRDIP1Homo sapiens
K43-----------1Oryza sativa subsp. japonica
K43DVCTAKPRDIP1Bos taurus
K43DICIAKPRDIP1Mus musculus
L242EAINELTVLVL1Homo sapiens
L242DAVDRATPAVL1Oryza sativa subsp. japonica
L242QAINEFTVLVL1Bos taurus
L242GAINELTALVL1Mus musculus
L245NELTVLVLVNT1Homo sapiens
L245DRATPAVLGNA1Oryza sativa subsp. japonica
L245NEFTVLVLVNT1Bos taurus
L245NELTALVLVNT1Mus musculus
L247LTVLVLVNTIY1Homo sapiens
L247ATPAVLGNALY1Oryza sativa subsp. japonica
L247FTVLVLVNTIY1Bos taurus
L247LTALVLVNTIY1Mus musculus
L363EDGFSLKEQLQ2Homo sapiens, Mus musculus
L363SYKTNAAETLR1Oryza sativa subsp. japonica
L363EDSFSVKEQLQ1Bos taurus
L383PEKSKLPGIVA1Homo sapiens
L383YPGADLSEMVE1Oryza sativa subsp. japonica
L383PEKSRLPGIVA1Bos taurus
L383PEKSQLPGIVA1Mus musculus
L394R--DDLYVSDA2Homo sapiens, Mus musculus
L394PEAEKIVVSAV1Oryza sativa subsp. japonica
L394R--SDLYVSDA1Bos taurus
L405FHKAFLEVNEE3Homo sapiens, Bos taurus, Mus musculus
L405YHESFVEVNEE1Oryza sativa subsp. japonica
M313---ITMVLILP3Homo sapiens, Bos taurus, Mus musculus
M313GRLFSMYIYLP1Oryza sativa subsp. japonica
N249VLVLVNTIYFK2Homo sapiens, Bos taurus
N249PAVLGNALYFK1Oryza sativa subsp. japonica
N249ALVLVNTIYFK1Mus musculus
N408AFLEVNEEGSE3Homo sapiens, Bos taurus, Mus musculus
N408SFVEVNEEGTE1Oryza sativa subsp. japonica
N77IPEATNRRVWE1Homo sapiens
N77-----------1Oryza sativa subsp. japonica
N77IPGATNRRVWE1Bos taurus
N77VPEATNRRVWE1Mus musculus
P44ICTAKPRDIPM1Homo sapiens
P44-----------1Oryza sativa subsp. japonica
P44VCTAKPRDIPV1Bos taurus
P44ICIAKPRDIPV1Mus musculus
Q150EKTSDQIHFFF3Homo sapiens, Bos taurus, Mus musculus
Q150AHAALASHVAL1Oryza sativa subsp. japonica
R161AKLNCRLYRKA3Homo sapiens, Bos taurus, Mus musculus
R161CSLADDSGPGD1Oryza sativa subsp. japonica
R229NKTEGRITDVI2Homo sapiens, Bos taurus
R229SATAGRIKDFL1Oryza sativa subsp. japonica
R229NKTEGRIKDVI1Mus musculus
R45CTAKPRDIPMN1Homo sapiens
R45-----------1Oryza sativa subsp. japonica
R45CTAKPRDIPVN1Bos taurus
R45CIAKPRDIPVN1Mus musculus
R78PEATNRRVWEL2Homo sapiens, Mus musculus
R78-----------1Oryza sativa subsp. japonica
R78PGATNRRVWEL1Bos taurus
R79EATNRRVWELS2Homo sapiens, Mus musculus
R79-----------1Oryza sativa subsp. japonica
R79GATNRRVWELS1Bos taurus
S111DNIFLSPLSIS3Homo sapiens, Bos taurus, Mus musculus
S111-NLAVSPLSLH1Oryza sativa subsp. japonica
S114FLSPLSISTAF3Homo sapiens, Bos taurus, Mus musculus
S114AVSPLSLHAAL1Oryza sativa subsp. japonica
S144KFDTISEKTSD3Homo sapiens, Bos taurus, Mus musculus
S144GPAGGPAHAAL1Oryza sativa subsp. japonica
S397DDLYVSDAFHK2Homo sapiens, Mus musculus
S397EKIVVSAVYHE1Oryza sativa subsp. japonica
S397SDLYVSDAFHK1Bos taurus
T122TAFAMTKLGAC3Homo sapiens, Bos taurus, Mus musculus
T122AALALLGAGAR1Oryza sativa subsp. japonica
T243AINELTVLVLV1Homo sapiens
T243AVDRATPAVLG1Oryza sativa subsp. japonica
T243AINEFTVLVLV1Bos taurus
T243AINELTALVLV1Mus musculus
T250LVLVNTIYFKG3Homo sapiens, Bos taurus, Mus musculus
T250AVLGNALYFKG1Oryza sativa subsp. japonica
T41V-DICTAKPRD1Homo sapiens
T41-----------1Oryza sativa subsp. japonica
T41VEDVCTAKPRD1Bos taurus
T41VDDICIAKPRD1Mus musculus
T76KIPEATNRRVW1Homo sapiens
T76-----------1Oryza sativa subsp. japonica
T76KIPGATNRRVW1Bos taurus
T76KVPEATNRRVW1Mus musculus
V222AINKWVSNKTE1Homo sapiens
V222EINEWFESATA1Oryza sativa subsp. japonica
V222TINQWISNKTE1Bos taurus
V222TINNWVANKTE1Mus musculus
V233GRITDVIPSEA1Homo sapiens
V233GRIKDFLPKDA1Oryza sativa subsp. japonica
V233GRITDVIPPQA1Bos taurus
V233GRIKDVIPQGA1Mus musculus
V244INELTVLVLVN1Homo sapiens
V244VDRATPAVLGN1Oryza sativa subsp. japonica
V244INEFTVLVLVN1Bos taurus
V244INELTALVLVN1Mus musculus
V246ELTVLVLVNTI1Homo sapiens
V246RATPAVLGNAL1Oryza sativa subsp. japonica
V246EFTVLVLVNTI1Bos taurus
V246ELTALVLVNTI1Mus musculus
V248TVLVLVNTIYF2Homo sapiens, Bos taurus
V248TPAVLGNALYF1Oryza sativa subsp. japonica
V248TALVLVNTIYF1Mus musculus
V396-DDLYVSDAFH2Homo sapiens, Mus musculus
V396AEKIVVSAVYH1Oryza sativa subsp. japonica
V396-SDLYVSDAFH1Bos taurus
V407KAFLEVNEEGS3Homo sapiens, Bos taurus, Mus musculus
V407ESFVEVNEEGT1Oryza sativa subsp. japonica
V80ATNRRVWELSK3Homo sapiens, Bos taurus, Mus musculus
V80-----------1Oryza sativa subsp. japonica
W257YFKGLWKSKFS3Homo sapiens, Bos taurus, Mus musculus
W257YFKGDWESKFD1Oryza sativa subsp. japonica
Y252LVNTIYFKGLW3Homo sapiens, Bos taurus, Mus musculus
Y252LGNALYFKGDW1Oryza sativa subsp. japonica
Y395--DDLYVSDAF2Homo sapiens, Mus musculus
Y395EAEKIVVSAVY1Oryza sativa subsp. japonica
Y395--SDLYVSDAF1Bos taurus


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