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 ANXA5
Gene summary
Basic gene Info.Gene symbolANXA5
Gene nameannexin A5
SynonymsANX5|ENX2|HEL-S-7|PP4|RPRGL3
CytomapUCSC genome browser: 4q27
Type of geneprotein-coding
RefGenesNM_001154.3,
DescriptionCBP-IPAP-IVAC-alphaanchorin CIIannexin Vannexin-5calphobindin Iendonexin IIepididymis secretory protein Li 7lipocortin Vplacental anticoagulant protein 4placental anticoagulant protein Ithromboplastin inhibitorvascular anticoagulant-alpha
Modification date20141207
dbXrefs MIM : 131230
HGNC : HGNC
Ensembl : ENSG00000164111
HPRD : 00568
Vega : OTTHUMG00000133034
ProteinUniProt: P08758
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ANXA5
BioGPS: 308
PathwayNCI Pathway Interaction Database: ANXA5
KEGG: ANXA5
REACTOME: ANXA5
Pathway Commons: ANXA5
ContextiHOP: ANXA5
ligand binding site mutation search in PubMed: ANXA5
UCL Cancer Institute: ANXA5
Assigned class in mutLBSgeneDBC: This gene just belongs to 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 ANXA5
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 : non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
S243S243CBLCA1
D303G302RLUAD1
D303D303VLUSC1
D303S305TOV1
T105N106SSTAD1
E78K76IUCEC1
S71S71PUCEC1
T118T118IUCEC1
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 ANXA5
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
S71S71P0.073411667
D303G302R-0.66472141
E78K76I-0.49885452
S243S243C-0.44925832
T118T118I-0.36401086
D303S305T-0.36275018
D303D303V-0.087789043
T105N106S-0.025705027
(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 ANXA5 from PDB

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Differential gene expression and gene-gene network for ANXA5
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 ANXA5 and the right PPI network was created from samples without mutations in the LBS of ANXA5. 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 ANXA5
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0032914Pre-Eclampsia2GeneticVariation, Therapeutic
umls:C0007137Carcinoma, Squamous Cell2Biomarker
umls:C0023467Leukemia, Myeloid, Acute2Biomarker
umls:C0152013Adenocarcinoma of lung1Biomarker
umls:C0017661Glomerulonephritis, IGA1Biomarker
umls:C0019202Hepatolenticular Degeneration1Biomarker
umls:C0026640Mouth Neoplasms1Biomarker
umls:C0038356Stomach Neoplasms1Biomarker
umls:C0043094Weight Gain1Biomarker

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

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Pharmacological information for ANXA5
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
ExperimentalDB02497L-Alpha-GlycerophosphorylserineSmall molecule
ExperimentalDB02846L-thioprolineSmall molecule
ExperimentalDB02929K201Small molecule
ExperimentalDB03484L-Alpha-GlycerophosphorylethanolamineSmall molecule
ExperimentalDB039351,4-Dideoxy-O2-Sulfo-Glucuronic AcidSmall molecule
ExperimentalDB03959N,O6-Disulfo-GlucosamineSmall molecule
ExperimentalDB039811,4-Dideoxy-5-Dehydro-O2-Sulfo-Glucuronic AcidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ANXA5 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)1anwAD303
CACALCIUM(2+)1anwBD303
CACALCIUM(2+)1avhAD303
CACALCIUM(2+)1avhBD303
CACALCIUM(2+)1avrAD303
CACALCIUM(2+)1hvdAD303
CACALCIUM(2+)1hveAD303
CACALCIUM(2+)1hvfAD303
CACALCIUM(2+)1savAD303
CACALCIUM(2+)1anxAE78
CACALCIUM(2+)1anxBE78
CACALCIUM(2+)1anxCE78
CACALCIUM(2+)1avrAE78
CACALCIUM(2+)1hveAS71
CACALCIUM(2+)1savAS71
CACALCIUM(2+)1hvdAT105
CACALCIUM(2+)1hveAT105
CACALCIUM(2+)1savAT105
K214-[3-{1-(4-BENZYL)PIPERODINYL}PROPIONYL]-7-METHOXY-2,3,4,5-TERTRAHYDRO-1,4-BENZOTHIAZEPINE1hakBT118 S243
K214-[3-{1-(4-BENZYL)PIPERODINYL}PROPIONYL]-7-METHOXY-2,3,4,5-TERTRAHYDRO-1,4-BENZOTHIAZEPINE1hakAT118 S243


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Conservation information for LBS of ANXA5
Multiple alignments for P08758 in multiple species
LBSAA sequence# speciesSpecies
D144DDVVGDTSGYY4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
D144DKITGETSGHF1Gallus gallus
D226IEETIDRETSG5Homo sapiens, Gallus gallus, Pan troglodytes, Mus musculus, Rattus norvegicus
D303SMIKGDTSGDY4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
D303QMIQKDTSGDY1Gallus gallus
E121SRTPEELRAIK3Homo sapiens, Pan troglodytes, Rattus norvegicus
E121SRTPAEVQNIK1Gallus gallus
E121SRTPEELSAIK1Mus musculus
E234TSGNLEQLLLA3Homo sapiens, Pan troglodytes, Mus musculus
E234TSGDLEKLLLA1Gallus gallus
E234TSGNLENLLLA1Rattus norvegicus
E72DDLKSELTGKF4Homo sapiens, Gallus gallus, Pan troglodytes, Mus musculus
E72NDMKSELTGKF1Rattus norvegicus
E78LTGKFEKLIVA4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
E78LTGKFETLMVS1Gallus gallus
G102KHALKGAGTNE2Homo sapiens, Pan troglodytes
G102KHALKGAGTDE2Mus musculus, Rattus norvegicus
G102KHAIKGAGTNE1Gallus gallus
G104ALKGAGTNEKV2Homo sapiens, Pan troglodytes
G104ALKGAGTDEKV2Mus musculus, Rattus norvegicus
G104AIKGAGTNEKV1Gallus gallus
G261YYAMKGAGTDD4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
G261YYSMKGAGTDD1Gallus gallus
G263AMKGAGTDDHT4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
G263SMKGAGTDDDT1Gallus gallus
G30RKAMKGLGTDE4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
G30RKAMKGMGTDE1Gallus gallus
G32AMKGLGTDEES2Homo sapiens, Pan troglodytes
G32AMKGLGTDEDS2Mus musculus, Rattus norvegicus
G32AMKGMGTDEET1Gallus gallus
I244AVVKSIRSIPA4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
I244AVVKCIRSVPA1Gallus gallus
I247KSIRSIPAYLA4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
I247KCIRSVPAYFA1Gallus gallus
I279VSRSEIDLFNI4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
I279VSRSEIDLLDI1Gallus gallus
K101LKHALKGAGTN2Homo sapiens, Pan troglodytes
K101LKHALKGAGTD2Mus musculus, Rattus norvegicus
K101LKHAIKGAGTN1Gallus gallus
K29LRKAMKGLGTD4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
K29LRKAMKGMGTD1Gallus gallus
K70LLDDLKSELTG2Homo sapiens, Pan troglodytes
K70LVDDLKSELTG2Gallus gallus, Mus musculus
K70LVNDMKSELTG1Rattus norvegicus
L100ELKHALKGAGT4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
L100ALKHAIKGAGT1Gallus gallus
L31KAMKGLGTDEE2Homo sapiens, Pan troglodytes
L31KAMKGLGTDED2Mus musculus, Rattus norvegicus
L31KAMKGMGTDEE1Gallus gallus
L55Homo sapiens, Gallus gallus, Pan troglodytes, Mus musculus, Rattus norvegicus
L73DLKSELTGKFE4Homo sapiens, Gallus gallus, Pan troglodytes, Mus musculus
L73DMKSELTGKFE1Rattus norvegicus
M259TLYYAMKGAGT4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
M259TLYYSMKGAGT1Gallus gallus
M28TLRKAMKGLGT2Homo sapiens, Pan troglodytes
M28VLRKAMKGLGT2Mus musculus, Rattus norvegicus
M28ALRKAMKGMGT1Gallus gallus
P119IASRTPEELRA3Homo sapiens, Pan troglodytes, Rattus norvegicus
P119LASRTPAEVQN1Gallus gallus
P119IASRTPEELSA1Mus musculus
R161LLQANRDPDAG2Homo sapiens, Pan troglodytes
R161LLQANRDPDTA2Mus musculus, Rattus norvegicus
R161LLQANRDPDGR1Gallus gallus
R207SVSHLRRVFDK3Gallus gallus, Mus musculus, Rattus norvegicus
R207SVSHLRKVFDK2Homo sapiens, Pan troglodytes
R276RVMVSRSEIDL3Homo sapiens, Gallus gallus, Pan troglodytes
R276RVVVSRSEIDL1Mus musculus
R276RVIVSRSEIDL1Rattus norvegicus
S243LAVVKSIRSIP4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
S243LAVVKCIRSVP1Gallus gallus
S71LDDLKSELTGK2Homo sapiens, Pan troglodytes
S71VDDLKSELTGK2Gallus gallus, Mus musculus
S71VNDMKSELTGK1Rattus norvegicus
T105LKGAGTNEKVL2Homo sapiens, Pan troglodytes
T105LKGAGTDEKVL2Mus musculus, Rattus norvegicus
T105IKGAGTNEKVL1Gallus gallus
T118IIASRTPEELR3Homo sapiens, Pan troglodytes, Rattus norvegicus
T118ILASRTPAEVQ1Gallus gallus
T118IIASRTPEELS1Mus musculus
T229TIDRETSGNLE4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
T229TIDRETSGDLE1Gallus gallus
T264MKGAGTDDHTL4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
T264MKGAGTDDDTL1Gallus gallus
T33MKGLGTDEESI2Homo sapiens, Pan troglodytes
T33MKGLGTDEDSI2Mus musculus, Rattus norvegicus
T33MKGMGTDEETI1Gallus gallus
V203FGTRSVSHLRK2Homo sapiens, Pan troglodytes
V203LGTRSVSHLRR2Gallus gallus, Rattus norvegicus
V203FGTRSVSHLRR1Mus musculus


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