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mutLBSgeneDB |
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| Gene summary for APBB1 |
 Gene summary |
| Basic gene Info. | Gene symbol | APBB1 |
| Gene name | amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) | |
| Synonyms | FE65|MGC:9072|RIR | |
| Cytomap | UCSC genome browser: 11p15 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001164.4, NM_001257319.2,NM_001257320.2,NM_001257321.2,NM_001257323.2, NM_001257325.2,NM_001257326.2,NM_145689.2,NR_047512.2, NM_001257322.1,NM_001257324.1, | |
| Description | adaptor protein FE65a2amyloid beta A4 precursor protein-binding family B member 1stat-like protein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602709 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000166313 | ||
| HPRD : 04087 | ||
| Vega : OTTHUMG00000165454 | ||
| Protein | UniProt: O00213 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_APBB1 | |
| BioGPS: 322 | ||
| Pathway | NCI Pathway Interaction Database: APBB1 | |
| KEGG: APBB1 | ||
| REACTOME: APBB1 | ||
| Pathway Commons: APBB1 | ||
| Context | iHOP: APBB1 | |
| ligand binding site mutation search in PubMed: APBB1 | ||
| UCL Cancer Institute: APBB1 | ||
| 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:0006974 | cellular response to DNA damage stimulus | 18468999 | GO:0043065 | positive regulation of apoptotic process | 18468999 | GO:0045893 | positive regulation of transcription, DNA-templated | 19343227 |
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| Ligand binding site mutations for APBB1 |
| 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 | R51 | L50V | BLCA | 1 | V614 | V614A | COAD | 1 | C654 | A653V | COAD | 1 | A626 | G628S | COAD | 1 | Y269 | G267V | OV | 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 APBB1 |
| 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 | V614 | V614A | -1.4403464 | R51 | L50V | -1.0901689 | A626 | G628S | -0.5805104 | C654 | A653V | -0.45949918 | Y269 | G267V | -0.016605267 |
| (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 APBB1 from PDB |
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| Differential gene expression and gene-gene network for APBB1 |
| 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 APBB1 |
| 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 APBB1 |
| 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 APBB1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ALA,VAL,THR,PRO,GLU,GLU,ARG,HIS,LEU,SER,LYS,MET,GLN,GLN,ASN,GLY,TYR,GLU,ASN,PRO,THR,TYR,LYS,PHE,PHE,GLU,GLN,MET) | 3dxc | A | V614 A626 C654 | III | Peptide ligand (VAL,THR,PRO,GLU,GLU,ARG,HIS,LEU,SER,LYS,MET,GLN,GLN,ASN,GLY,TYR,GLU,ASN,PRO,THR,TYR,LYS,PHE,PHE,GLU,GLN) | 3dxc | C | V614 A626 C654 | III | Peptide ligand (VAL,GLU,PRO,GLU,GLU,ARG,HIS,LEU,SER,LYS,MET,GLN,GLN,ASN,GLY,TYR,GLU,ASN,PRO,THR,TYR,LYS,PHE,PHE,GLU,GLN,MET) | 3dxd | A | V614 A626 C654 | III | Peptide ligand (VAL,GLU,PRO,GLU,GLU,ARG,HIS,LEU,SER,LYS,MET,GLN,GLN,ASN,GLY,TYR,GLU,ASN,PRO,THR,TYR,LYS,PHE,PHE,GLU,GLN) | 3dxd | C | V614 A626 C654 | III | Peptide ligand (VAL,ALA,PRO,GLU,GLU,ARG,HIS,LEU,SER,LYS,MET,GLN,GLN,ASN,GLY,TYR,GLU,ASN,PRO,THR,TYR,LYS,PHE,PHE,GLU,GLN,MET) | 3dxe | A | V614 A626 C654 | III | Peptide ligand (VAL,ALA,PRO,GLU,GLU,ARG,HIS,LEU,SER,LYS,MET,GLN,GLN,ASN,GLY,TYR,GLU,ASN,PRO,THR,TYR,LYS,PHE,PHE,GLU,GLN,MET) | 3dxe | C | V614 A626 C654 | III | Peptide ligand (PRO,PRO,PRO,PRO,PRO,PRO,PRO,PRO,PRO,LEU) | 2ho2 | A | Y269 | III | Peptide ligand (PRO,PRO,PRO,PRO,PRO,PRO,LEU,PRO,PRO) | 2oei | A | Y269 |
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| Conservation information for LBS of APBB1 |
| Multiple alignments for O00213 in multiple species |
| LBS | AA sequence | # species | Species | A613 | FLSFLAVGRDV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A626 | FAFIMAAGPAS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A644 | CEPNAASLSEA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C654 | AVQAACMLRYQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C661 | LRYQKCLDARS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D264 | WMRVQDTSGTY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E281 | GTTQWEPPGRA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E648 | AASLSEAVQAA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F611 | VRFLSFLAVGR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F632 | AGPASFCCHMF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G615 | SFLAVGRDVHT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L609 | CRVRFLSFLAV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L612 | RFLSFLAVGRD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L662 | RYQKCLDARSQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M655 | VQAACMLRYQK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N642 | FWCEPNAASLS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q279 | PTGTTQWEPPG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q651 | LSEAVQAACML | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R51 | VPKDLRSAMGE | 2 | Mus musculus, Rattus norvegicus | R51 | GPKDLRSAMGE | 1 | Homo sapiens | R607 | GECRVRFLSFL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R616 | FLAVGRDVHTF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R657 | AACMLRYQKCL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S610 | RVRFLSFLAVG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T278 | IPTGTTQWEPP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V557 | PVAKPVGVDVI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V559 | AKPVGVDVING | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V606 | LGECRVRFLSF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V614 | LSFLAVGRDVH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V618 | AVGRDVHTFAF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W271 | SGTYYWHIPTG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W280 | TGTTQWEPPGR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y269 | DTSGTYYWHIP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y658 | ACMLRYQKCLD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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