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 PHF21A
Gene summary
Basic gene Info.Gene symbolPHF21A
Gene namePHD finger protein 21A
SynonymsBHC80
CytomapUCSC genome browser: 11p11.2
Type of geneprotein-coding
RefGenesNM_001101802.1,
NM_016621.3,
DescriptionBHC80aBRAF35-HDAC complex protein BHC80BRAF35/HDAC2 complex (80 kDa)
Modification date20141207
dbXrefs MIM : 608325
HGNC : HGNC
ProteinUniProt: Q96BD5
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PHF21A
BioGPS: 51317
PathwayNCI Pathway Interaction Database: PHF21A
KEGG: PHF21A
REACTOME: PHF21A
Pathway Commons: PHF21A
ContextiHOP: PHF21A
ligand binding site mutation search in PubMed: PHF21A
UCL Cancer Institute: PHF21A
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:0000122negative regulation of transcription from RNA polymerase II promoter15325272


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Ligand binding site mutations for PHF21A

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
C503C503YCOAD1
C494R495KLUAD1
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 PHF21A
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
C503C503Y-1.2365742
C494R495K-0.9693919
(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 PHF21A from PDB

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Differential gene expression and gene-gene network for PHF21A
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 PHF21A and the right PPI network was created from samples without mutations in the LBS of PHF21A. 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 PHF21A
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 PHF21A
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 PHF21A go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)2puyAC494
ZNZINC(2+)2puyBC494
ZNZINC(2+)2puyAC503
ZNZINC(2+)2puyBC503


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Conservation information for LBS of PHF21A
Multiple alignments for Q96BD5 in multiple species
LBSAA sequence# speciesSpecies


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