mutLBSgeneDB |
Gene summary for BCL2A1 |
Gene summary |
Basic gene Info. | Gene symbol | BCL2A1 |
Gene name | BCL2-related protein A1 | |
Synonyms | ACC-1|ACC-2|BCL2L5|BFL1|GRS|HBPA1 | |
Cytomap | UCSC genome browser: 15q24.3 | |
Type of gene | protein-coding | |
RefGenes | NM_001114735.1, NM_004049.3, | |
Description | bcl-2-like protein 5bcl-2-related protein A1bcl2-L-5hematopoietic BCL2-related protein A1hemopoietic-specific early response proteinprotein BFL-1 | |
Modification date | 20141207 | |
dbXrefs | MIM : 601056 | |
HGNC : HGNC | ||
Ensembl : ENSG00000140379 | ||
HPRD : 03034 | ||
Vega : OTTHUMG00000144173 | ||
Protein | UniProt: Q16548 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_BCL2A1 | |
BioGPS: 597 | ||
Pathway | NCI Pathway Interaction Database: BCL2A1 | |
KEGG: BCL2A1 | ||
REACTOME: BCL2A1 | ||
Pathway Commons: BCL2A1 | ||
Context | iHOP: BCL2A1 | |
ligand binding site mutation search in PubMed: BCL2A1 | ||
UCL Cancer Institute: BCL2A1 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID |
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Ligand binding site mutations for BCL2A1 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | C55 | C55R | UCEC | 1 |
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 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. |
LBS | AAchange of nsSNV | Relative stability change | C55 | C55R | -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 |
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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) |
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Phenotype information for BCL2A1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C1458155 | Breast Neoplasms | 3 | AlteredExpression, Biomarker |
umls:C0014859 | Esophageal Neoplasms | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of BCL2A1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide 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) | 2vm6 | A | C55 | III | Peptide ligand (GLY,GLN,VAL,GLY,ARG,GLN,LEU,ALA,ILE,ILE,GLY,ASP,ASP,ILE,ASN,ARG) | 3i1h | A | C55 | III | Peptide 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) | 3mqp | A | C55 | III | Peptide 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) | 4zeq | A | C55 |
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Conservation information for LBS of BCL2A1 |
Multiple alignments for Q16548 in multiple species |
LBS | AA sequence | # species | Species | C55 | KNLKSCLDNVN | 1 | Homo sapiens | C55 | KNLKSYLDDFH | 1 | Mus musculus | C55 | RTLKQCLDKFD | 1 | Bos taurus | D81 | EKEFEDGIINW | 2 | Homo sapiens, Mus musculus | D81 | EKEFEDGIVNW | 1 | Bos taurus | E47 | FSVQKEVEKNL | 2 | Homo sapiens, Mus musculus | E47 | SSVQDEVERTL | 1 | Bos taurus | E5 | 3 | Homo sapiens, Mus musculus, Bos taurus | E78 | QVMEKEFEDGI | 3 | Homo sapiens, Mus musculus, Bos taurus | E80 | MEKEFEDGIIN | 2 | Homo sapiens, Mus musculus | E80 | MEKEFEDGIVN | 1 | Bos taurus | F148 | GFVKKFEPKSG | 1 | Homo sapiens | F148 | GFIKKFEPKSG | 1 | Mus musculus | F148 | GFVKKFETKSG | 1 | Bos taurus | F79 | VMEKEFEDGII | 2 | Homo sapiens, Mus musculus | F79 | VMEKEFEDGIV | 1 | Bos taurus | F95 | VTIFAFEGILI | 1 | Homo sapiens | F95 | VTIFAFGGVLL | 1 | Mus musculus | F95 | VTIFAFEGILT | 1 | Bos taurus | G87 | GIINWGRIVTI | 2 | Homo sapiens, Mus musculus | G87 | GIVNWGRIVTI | 1 | Bos taurus | K146 | ENGFVKKFEPK | 1 | Homo sapiens | K146 | EDGFIKKFEPK | 1 | Mus musculus | K146 | ENGFVKKFETK | 1 | Bos taurus | K147 | NGFVKKFEPKS | 1 | Homo sapiens | K147 | DGFIKKFEPKS | 1 | Mus musculus | K147 | NGFVKKFETKS | 1 | Bos taurus | K77 | NQVMEKEFEDG | 3 | Homo sapiens, Mus musculus, Bos taurus | L52 | EVEKNLKSCLD | 1 | Homo sapiens | L52 | EVEKNLKSYLD | 1 | Mus musculus | L52 | EVERTLKQCLD | 1 | Bos taurus | L56 | NLKSCLDNVNV | 1 | Homo sapiens | L56 | NLKSYLDDFHV | 1 | Mus musculus | L56 | TLKQCLDKFDV | 1 | Bos taurus | L70 | DTARTLFNQVM | 1 | Homo sapiens | L70 | DTARIIFNQVM | 1 | Mus musculus | L70 | DTARTIFNQVM | 1 | Bos taurus | M75 | IFNQVMEKEFE | 2 | Mus musculus, Bos taurus | M75 | LFNQVMEKEFE | 1 | Homo sapiens | N51 | KEVEKNLKSCL | 1 | Homo sapiens | N51 | KEVEKNLKSYL | 1 | Mus musculus | N51 | DEVERTLKQCL | 1 | Bos taurus | N58 | KSCLDNVNVVS | 1 | Homo sapiens | N58 | KSYLDDFHVES | 1 | Mus musculus | N58 | KQCLDKFDVVS | 1 | Bos taurus | N85 | EDGIINWGRIV | 2 | Homo sapiens, Mus musculus | N85 | EDGIVNWGRIV | 1 | Bos taurus | Q73 | RTLFNQVMEKE | 1 | Homo sapiens | Q73 | RIIFNQVMEKE | 1 | Mus musculus | Q73 | RTIFNQVMEKE | 1 | Bos taurus | R88 | IINWGRIVTIF | 2 | Homo sapiens, Mus musculus | R88 | IVNWGRIVTIF | 1 | Bos taurus | S54 | EKNLKSCLDNV | 1 | Homo sapiens | S54 | EKNLKSYLDDF | 1 | Mus musculus | S54 | ERTLKQCLDKF | 1 | Bos taurus | T91 | WGRIVTIFAFE | 2 | Homo sapiens, Bos taurus | T91 | WGRIVTIFAFG | 1 | Mus musculus | V40 | RVLQNVAFSVQ | 1 | Homo sapiens | V40 | RVLQRVAFSVQ | 1 | Mus musculus | V40 | RVLQDVASSVQ | 1 | Bos taurus | V44 | NVAFSVQKEVE | 1 | Homo sapiens | V44 | RVAFSVQKEVE | 1 | Mus musculus | V44 | DVASSVQDEVE | 1 | Bos taurus | V48 | SVQKEVEKNLK | 2 | Homo sapiens, Mus musculus | V48 | SVQDEVERTLK | 1 | Bos taurus | V59 | SCLDNVNVVSV | 1 | Homo sapiens | V59 | SYLDDFHVESI | 1 | Mus musculus | V59 | QCLDKFDVVSV | 1 | Bos taurus | V74 | TLFNQVMEKEF | 1 | Homo sapiens | V74 | IIFNQVMEKEF | 1 | Mus musculus | V74 | TIFNQVMEKEF | 1 | Bos taurus | V90 | NWGRIVTIFAF | 3 | Homo sapiens, Mus musculus, Bos taurus | W86 | DGIINWGRIVT | 2 | Homo sapiens, Mus musculus | W86 | DGIVNWGRIVT | 1 | Bos taurus |
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