mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

Download

 Statistics

Help

About Us

Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 BCL2A1
Gene summary
Basic gene Info.Gene symbolBCL2A1
Gene nameBCL2-related protein A1
SynonymsACC-1|ACC-2|BCL2L5|BFL1|GRS|HBPA1
CytomapUCSC genome browser: 15q24.3
Type of geneprotein-coding
RefGenesNM_001114735.1,
NM_004049.3,
Descriptionbcl-2-like protein 5bcl-2-related protein A1bcl2-L-5hematopoietic BCL2-related protein A1hemopoietic-specific early response proteinprotein BFL-1
Modification date20141207
dbXrefs MIM : 601056
HGNC : HGNC
Ensembl : ENSG00000140379
HPRD : 03034
Vega : OTTHUMG00000144173
ProteinUniProt: Q16548
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BCL2A1
BioGPS: 597
PathwayNCI Pathway Interaction Database: BCL2A1
KEGG: BCL2A1
REACTOME: BCL2A1
Pathway Commons: BCL2A1
ContextiHOP: BCL2A1
ligand binding site mutation search in PubMed: BCL2A1
UCL Cancer Institute: BCL2A1
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


Top
Ligand binding site mutations for BCL2A1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
C55C55RUCEC1
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.


Top
Protein structure related information for BCL2A1
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
C55C55R-0.92600817
(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 BCL2A1 from PDB

Top
Differential gene expression and gene-gene network for BCL2A1
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 BCL2A1 and the right PPI network was created from samples without mutations in the LBS of BCL2A1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Top

Top
Phenotype information for BCL2A1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1458155Breast Neoplasms3AlteredExpression, Biomarker
umls:C0014859Esophageal Neoplasms1Biomarker

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

Top
Pharmacological information for BCL2A1
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 BCL2A1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (ASP,MET,ARG,PRO,GLU,ILE,TRP,ILE,ALA,GLN,GLU,LEU,ARG,ARG,ILE,GLY,ASP,GLU,PHE,ASN,ALA,TYR,TYR,ALA,ARG)2vm6AC55
IIIPeptide ligand (GLY,GLN,VAL,GLY,ARG,GLN,LEU,ALA,ILE,ILE,GLY,ASP,ASP,ILE,ASN,ARG)3i1hAC55
IIIPeptide ligand (ALA,GLU,LEU,GLU,VAL,GLU,CYS,ALA,THR,GLN,LEU,ARG,ARG,PHE,GLY,ASP,LYS,LEU,ASN,PHE,ARG,GLN,LYS,LEU,LEU)3mqpAC55
IIIPeptide ligand (GLN,GLU,ASP,ILE,ILE,ARG,ASN,ILE,ALA,ARG,HIS,LEU,ALA,GLN,VAL,GLY,ASP,SER,MET,ASP,ARG,SER,ILE,PRO,PRO,GLY)4zeqAC55


Top
Conservation information for LBS of BCL2A1
Multiple alignments for Q16548 in multiple species
LBSAA sequence# speciesSpecies
C55KNLKSCLDNVN1Homo sapiens
C55KNLKSYLDDFH1Mus musculus
C55RTLKQCLDKFD1Bos taurus
D81EKEFEDGIINW2Homo sapiens, Mus musculus
D81EKEFEDGIVNW1Bos taurus
E47FSVQKEVEKNL2Homo sapiens, Mus musculus
E47SSVQDEVERTL1Bos taurus
E53Homo sapiens, Mus musculus, Bos taurus
E78QVMEKEFEDGI3Homo sapiens, Mus musculus, Bos taurus
E80MEKEFEDGIIN2Homo sapiens, Mus musculus
E80MEKEFEDGIVN1Bos taurus
F148GFVKKFEPKSG1Homo sapiens
F148GFIKKFEPKSG1Mus musculus
F148GFVKKFETKSG1Bos taurus
F79VMEKEFEDGII2Homo sapiens, Mus musculus
F79VMEKEFEDGIV1Bos taurus
F95VTIFAFEGILI1Homo sapiens
F95VTIFAFGGVLL1Mus musculus
F95VTIFAFEGILT1Bos taurus
G87GIINWGRIVTI2Homo sapiens, Mus musculus
G87GIVNWGRIVTI1Bos taurus
K146ENGFVKKFEPK1Homo sapiens
K146EDGFIKKFEPK1Mus musculus
K146ENGFVKKFETK1Bos taurus
K147NGFVKKFEPKS1Homo sapiens
K147DGFIKKFEPKS1Mus musculus
K147NGFVKKFETKS1Bos taurus
K77NQVMEKEFEDG3Homo sapiens, Mus musculus, Bos taurus
L52EVEKNLKSCLD1Homo sapiens
L52EVEKNLKSYLD1Mus musculus
L52EVERTLKQCLD1Bos taurus
L56NLKSCLDNVNV1Homo sapiens
L56NLKSYLDDFHV1Mus musculus
L56TLKQCLDKFDV1Bos taurus
L70DTARTLFNQVM1Homo sapiens
L70DTARIIFNQVM1Mus musculus
L70DTARTIFNQVM1Bos taurus
M75IFNQVMEKEFE2Mus musculus, Bos taurus
M75LFNQVMEKEFE1Homo sapiens
N51KEVEKNLKSCL1Homo sapiens
N51KEVEKNLKSYL1Mus musculus
N51DEVERTLKQCL1Bos taurus
N58KSCLDNVNVVS1Homo sapiens
N58KSYLDDFHVES1Mus musculus
N58KQCLDKFDVVS1Bos taurus
N85EDGIINWGRIV2Homo sapiens, Mus musculus
N85EDGIVNWGRIV1Bos taurus
Q73RTLFNQVMEKE1Homo sapiens
Q73RIIFNQVMEKE1Mus musculus
Q73RTIFNQVMEKE1Bos taurus
R88IINWGRIVTIF2Homo sapiens, Mus musculus
R88IVNWGRIVTIF1Bos taurus
S54EKNLKSCLDNV1Homo sapiens
S54EKNLKSYLDDF1Mus musculus
S54ERTLKQCLDKF1Bos taurus
T91WGRIVTIFAFE2Homo sapiens, Bos taurus
T91WGRIVTIFAFG1Mus musculus
V40RVLQNVAFSVQ1Homo sapiens
V40RVLQRVAFSVQ1Mus musculus
V40RVLQDVASSVQ1Bos taurus
V44NVAFSVQKEVE1Homo sapiens
V44RVAFSVQKEVE1Mus musculus
V44DVASSVQDEVE1Bos taurus
V48SVQKEVEKNLK2Homo sapiens, Mus musculus
V48SVQDEVERTLK1Bos taurus
V59SCLDNVNVVSV1Homo sapiens
V59SYLDDFHVESI1Mus musculus
V59QCLDKFDVVSV1Bos taurus
V74TLFNQVMEKEF1Homo sapiens
V74IIFNQVMEKEF1Mus musculus
V74TIFNQVMEKEF1Bos taurus
V90NWGRIVTIFAF3Homo sapiens, Mus musculus, Bos taurus
W86DGIINWGRIVT2Homo sapiens, Mus musculus
W86DGIVNWGRIVT1Bos taurus


Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas