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mutLBSgeneDB |
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| Gene summary for APBA1 |
 Gene summary |
| Basic gene Info. | Gene symbol | APBA1 |
| Gene name | amyloid beta (A4) precursor protein-binding, family A, member 1 | |
| Synonyms | D9S411E|LIN10|MINT1|X11|X11A|X11ALPHA | |
| Cytomap | UCSC genome browser: 9q13-q21.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001163.3, | |
| Description | adapter protein X11alphaadaptor protein X11alphaamyloid beta (A4) precursor protein-binding, family A, member 1 (X11)amyloid beta A4 precursor protein-binding family A member 1mint-1neuron-specific X11 proteinneuronal munc18-1-interacting protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602414 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000107282 | ||
| HPRD : 03879 | ||
| Vega : OTTHUMG00000019984 | ||
| Protein | UniProt: Q02410 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_APBA1 | |
| BioGPS: 320 | ||
| Pathway | NCI Pathway Interaction Database: APBA1 | |
| KEGG: APBA1 | ||
| REACTOME: APBA1 | ||
| Pathway Commons: APBA1 | ||
| Context | iHOP: APBA1 | |
| ligand binding site mutation search in PubMed: APBA1 | ||
| UCL Cancer Institute: APBA1 | ||
| 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 APBA1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V670 | V670A | COAD | 1 | G552 | G552E | HNSC | 1 | F615 | L616F | SKCM | 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 APBA1 |
| 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 | F615 | L616F | -1.3543709 | V670 | V670A | -0.85712291 | G552 | G552E | -0.71246231 |
| (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 APBA1 from PDB |
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| Differential gene expression and gene-gene network for APBA1 |
| 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 APBA1 |
| 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 APBA1 |
| 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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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of APBA1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of APBA1 |
| Multiple alignments for Q02410 in multiple species |
| LBS | AA sequence | # species | Species | A549 | TISYIADIGNI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A601 | DAQLIAQSIGQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A611 | QAFSVAYQEFL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D550 | ISYIADIGNIV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F608 | SIGQAFSVAYQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F615 | VAYQEFLRANG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G552 | YIADIGNIVVL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G581 | HPSQDGKRQYK | 2 | Homo sapiens, Mus musculus | G581 | HPSQDAKRQYK | 1 | Rattus norvegicus | G668 | KGEILGVVIVE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I545 | HPLRTISYIAD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I548 | RTISYIADIGN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I666 | KQKGEILGVVI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I726 | TCQSIIKGLKN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K475 | QLLSDKTPSKN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K479 | DKTPSKNVRMM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K582 | PSQDGKRQYKM | 2 | Homo sapiens, Mus musculus | K582 | PSQDAKRQYKM | 1 | Rattus norvegicus | L542 | MMDHPLRTISY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L667 | QKGEILGVVIV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M483 | SKNVRMMQAQE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M587 | KRQYKMICHVF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M688 | VIIANMMHGGP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M689 | IIANMMHGGPA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N687 | TVIIANMMHGG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q487 | RMMQAQEAVSR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q584 | QDGKRQYKMIC | 2 | Homo sapiens, Mus musculus | Q584 | QDAKRQYKMIC | 1 | Rattus norvegicus | Q598 | ESEDAQLIAQS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q602 | AQLIAQSIGQA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q606 | AQSIGQAFSVA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q723 | PLSTCQSIIKG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R482 | PSKNVRMMQAQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R543 | MDHPLRTISYI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S546 | PLRTISYIADI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T476 | LLSDKTPSKNV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T544 | DHPLRTISYIA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V669 | GEILGVVIVES | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V670 | EILGVVIVESG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y547 | LRTISYIADIG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y612 | AFSVAYQEFLR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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