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mutLBSgeneDB |
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| Gene summary for PLEKHA1 |
 Gene summary |
| Basic gene Info. | Gene symbol | PLEKHA1 |
| Gene name | pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 | |
| Synonyms | TAPP1 | |
| Cytomap | UCSC genome browser: 10q26.13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001001974.2, NM_001195608.1,NM_021622.4, | |
| Description | pleckstrin homology domain-containing family A member 1tandem PH domain-containing protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 607772 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000107679 | ||
| HPRD : 09686 | ||
| Vega : OTTHUMG00000019184 | ||
| Protein | UniProt: Q9HB21 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PLEKHA1 | |
| BioGPS: 59338 | ||
| Pathway | NCI Pathway Interaction Database: PLEKHA1 | |
| KEGG: PLEKHA1 | ||
| REACTOME: PLEKHA1 | ||
| Pathway Commons: PLEKHA1 | ||
| Context | iHOP: PLEKHA1 | |
| ligand binding site mutation search in PubMed: PLEKHA1 | ||
| UCL Cancer Institute: PLEKHA1 | ||
| 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 | GO:0014065 | phosphatidylinositol 3-kinase signaling | 12101241 | GO:0031529 | ruffle organization | 15485858 | GO:0045184 | establishment of protein localization | 14516276 | GO:0050853 | B cell receptor signaling pathway | 12101241 | GO:0070301 | cellular response to hydrogen peroxide | 14516276 |
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| Ligand binding site mutations for PLEKHA1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R211 | Y212C | BRCA | 1 | R265 | R265Q | COAD | 1 | R233 | I235K | 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 PLEKHA1 |
| 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 |
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| 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 | R265 | R265Q | -1.1234564 | R233 | I235K | -1.1098778 | R211 | Y212C | -0.78153977 |
| (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 PLEKHA1 from PDB |
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| Differential gene expression and gene-gene network for PLEKHA1 |
| 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 PLEKHA1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PLEKHA1 |
| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Nutraceutical|vet_approved | DB04272 | Citric Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PLEKHA1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CIT | CITRIC ACID | 1eaz | A | R211 R233 R265 |
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| Conservation information for LBS of PLEKHA1 |
| Multiple alignments for Q9HB21 in multiple species |
| LBS | AA sequence | # species | Species |
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