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 ANAPC1
Gene summary
Basic gene Info.Gene symbolANAPC1
Gene nameanaphase promoting complex subunit 1
SynonymsAPC1|MCPR|TSG24
CytomapUCSC genome browser: 2q12.1
Type of geneprotein-coding
RefGenesNM_022662.3,
Descriptionanaphase-promoting complex 1 (meiotic checkpoint regulator)anaphase-promoting complex subunit 1cyclosome subunit 1mitotic checkpoint regulatortestis-specific gene 24 protein
Modification date20141207
dbXrefs MIM : 608473
HGNC : HGNC
Ensembl : ENSG00000153107
HPRD : 09769
Vega : OTTHUMG00000131277
ProteinUniProt: Q9H1A4
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ANAPC1
BioGPS: 64682
PathwayNCI Pathway Interaction Database: ANAPC1
KEGG: ANAPC1
REACTOME: ANAPC1
Pathway Commons: ANAPC1
ContextiHOP: ANAPC1
ligand binding site mutation search in PubMed: ANAPC1
UCL Cancer Institute: ANAPC1
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
GO:0070979protein K11-linked ubiquitination18485873


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Ligand binding site mutations for ANAPC1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
M1652L1651FLUSC1
M1652A1653VUCEC1
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 ANAPC1
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
M1652L1651F-1.606844
M1652A1653V-0.73579979
(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 ANAPC1 from PDB

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Differential gene expression and gene-gene network for ANAPC1
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 ANAPC1 and the right PPI network was created from samples without mutations in the LBS of ANAPC1. 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 ANAPC1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for ANAPC1
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 ANAPC1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (ALA,ALA,ALA,ALA,ALA,GLN,LEU,ALA,ALA,ALA,ALA,ALA,ALA,ALA,ALA,ALA,ALA,ALA,ALA,ALA,ALA)4ui9AM1652


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Conservation information for LBS of ANAPC1
Multiple alignments for Q9H1A4 in multiple species
LBSAA sequence# speciesSpecies
E1480RFAGSENLSAF2Homo sapiens, Mus musculus
E1480RFAGTRDGNAR1Arabidopsis thaliana
E1649YEQTKEELMAP2Homo sapiens, Mus musculus
E1649YSETKFCEITP1Arabidopsis thaliana
L1420LWDDILPNSKW2Homo sapiens, Mus musculus
L1420MWSRICPTCDW1Arabidopsis thaliana
L1482AGSENLSAFNC1Homo sapiens
L1482AGTRDGNARDL1Arabidopsis thaliana
L1482AGSENLSAFSC1Mus musculus
M1652TKEELMAPTLL2Homo sapiens, Mus musculus
M1652TKFCEITPCIL1Arabidopsis thaliana
N1320GMSDLNVPEQL2Homo sapiens, Mus musculus
N1320GSMD-SLVNRL1Arabidopsis thaliana
N1481FAGSENLSAFN1Homo sapiens
N1481FAGTRDGNARD1Arabidopsis thaliana
N1481FAGSENLSAFS1Mus musculus
P1322SDLNVPEQLYQ2Homo sapiens, Mus musculus
P1322MD-SLVNRLLL1Arabidopsis thaliana
P1421WDDILPNSKWV2Homo sapiens, Mus musculus
P1421WSRICPTCDWI1Arabidopsis thaliana
S1317NLIGMSDLNVP2Homo sapiens, Mus musculus
S1317DALGSMD-SLV1Arabidopsis thaliana
T1647QWYEQTKEELM2Homo sapiens, Mus musculus
T1647KLYSETKFCEI1Arabidopsis thaliana
W1386RSIADWLRAPD2Homo sapiens, Mus musculus
W1386EVIFSKLSIPQ1Arabidopsis thaliana


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