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 SERPINA7
Gene summary
Basic gene Info.Gene symbolSERPINA7
Gene nameserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
CytomapUCSC genome browser: Xq22.2
Type of geneprotein-coding
DescriptionT4-binding globulinserine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7serpin A7thyroxin-binding globulinthyroxine-binding globulin
Modification date20141207
dbXrefs MIM : 314200
Ensembl : ENSG00000123561
HPRD : 02438
Vega : OTTHUMG00000022144
ProteinUniProt: P05543
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SERPINA7
BioGPS: 6906
PathwayNCI Pathway Interaction Database: SERPINA7
Pathway Commons: SERPINA7
ligand binding site mutation search in PubMed: SERPINA7
UCL Cancer Institute: SERPINA7
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

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

Ligand binding site mutations for SERPINA7

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 SERPINA7
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 SERPINA7 from PDB

Differential gene expression and gene-gene network for SERPINA7
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 SERPINA7 and the right PPI network was created from samples without mutations in the LBS of SERPINA7. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for SERPINA7
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0025521Metabolism, Inborn Errors1Biomarker

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

Pharmacological information for SERPINA7
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of SERPINA7 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of SERPINA7
Multiple alignments for P05543 in multiple species
LBSAA sequence# speciesSpecies
A144HLKPLAKFLND2Homo sapiens, Pan troglodytes
A144QLKPLEKFLDD1Bos taurus
A282MESVEAAMSSK2Homo sapiens, Pan troglodytes
A282MEWVEGAMSSK1Bos taurus
A283ESVEAAMSSKT2Homo sapiens, Pan troglodytes
A283EWVEGAMSSKT1Bos taurus
A47MSSINADFAFN3Homo sapiens, Pan troglodytes, Bos taurus
D221PSKTEDSSSFL2Homo sapiens, Pan troglodytes
D221PSKTEEGSSFL1Bos taurus
D260TVLQMDYSKNA3Homo sapiens, Pan troglodytes, Bos taurus
D341SGLTEDNGLKL2Homo sapiens, Pan troglodytes
D341SGLTKDNGLKV1Bos taurus
E220DPSKTEDSSSF2Homo sapiens, Pan troglodytes
E220DPSKTEEGSSF1Bos taurus
E340FSGLTEDNGLK2Homo sapiens, Pan troglodytes
E340FSGLTKDNGLK1Bos taurus
E397MLLILERSTRS2Homo sapiens, Pan troglodytes
E397LLLILEKNTRS1Bos taurus
F163VFSTDFSNISA2Homo sapiens, Pan troglodytes
F163VFSTDFSNVSA1Bos taurus
G137NALFIGKHLKP2Homo sapiens, Pan troglodytes
G137NALFIGKQLKP1Bos taurus
H139LFIGKHLKPLA2Homo sapiens, Pan troglodytes
H139LFIGKQLKPLE1Bos taurus
H205LVNYIHFKAQW2Homo sapiens, Pan troglodytes
H205LVNYLCFKAQW1Bos taurus
I403RSTRSILFLGK2Homo sapiens, Pan troglodytes
I403KNTRSILFLGK1Bos taurus
K138ALFIGKHLKPL2Homo sapiens, Pan troglodytes
K138ALFIGKQLKPL1Bos taurus
K182VEMQTKGKVVG2Homo sapiens, Pan troglodytes
K182VEKQTKGKIVG1Bos taurus
K290SSKTLKKWNRL3Homo sapiens, Pan troglodytes, Bos taurus
L128KKELELQIGNA2Homo sapiens, Pan troglodytes
L128KKELELQMGNA1Bos taurus
L143KHLKPLAKFLN2Homo sapiens, Pan troglodytes
L143KQLKPLEKFLD1Bos taurus
L226DSSSFLIDKTT2Homo sapiens, Pan troglodytes
L226EGSSFLVDKTT1Bos taurus
L266YSKNALALFVL3Homo sapiens, Pan troglodytes, Bos taurus
L268KNALALFVLPK3Homo sapiens, Pan troglodytes, Bos taurus
L289MSSKTLKKWNR3Homo sapiens, Pan troglodytes, Bos taurus
L296KWNRLLQKGWV2Homo sapiens, Pan troglodytes
L296KWNRLLRKGWV1Bos taurus
L396FMLLILERSTR2Homo sapiens, Pan troglodytes
L396FLLLILEKNTR1Bos taurus
M284SVEAAMSSKTL2Homo sapiens, Pan troglodytes
M284WVEGAMSSKTL1Bos taurus
N293TLKKWNRLLQK2Homo sapiens, Pan troglodytes
N293TLKKWNRLLRK1Bos taurus
N342GLTEDNGLKLS2Homo sapiens, Pan troglodytes
N342GLTKDNGLKVS1Bos taurus
Q129KELELQIGNAL2Homo sapiens, Pan troglodytes
Q129KELELQMGNAL1Bos taurus
Q258NCTVLQMDYSK3Homo sapiens, Pan troglodytes, Bos taurus
R398LLILERSTRSI2Homo sapiens, Pan troglodytes
R398LLILEKNTRSI1Bos taurus
R401LERSTRSILFL2Homo sapiens, Pan troglodytes
R401LEKNTRSILFL1Bos taurus
S224TEDSSSFLIDK2Homo sapiens, Pan troglodytes
S224TEEGSSFLVDK1Bos taurus
S286EAAMSSKTLKK2Homo sapiens, Pan troglodytes
S286EGAMSSKTLKK1Bos taurus
S43TLYKMSSINAD3Homo sapiens, Pan troglodytes, Bos taurus
S44LYKMSSINADF3Homo sapiens, Pan troglodytes, Bos taurus
T161TEVFSTDFSNI2Homo sapiens, Pan troglodytes
T161TEVFSTDFSNV1Bos taurus
Y245QMEQYYHLVDM2Homo sapiens, Pan troglodytes
Y245QMEQYYHLVDT1Bos taurus

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