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mutLBSgeneDB |
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| Gene summary for AP4M1 |
 Gene summary |
| Basic gene Info. | Gene symbol | AP4M1 |
| Gene name | adaptor-related protein complex 4, mu 1 subunit | |
| Synonyms | CPSQ3|MU-4|MU-ARP2|SPG50 | |
| Cytomap | UCSC genome browser: 7q22.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004722.3, | |
| Description | AP-4 adaptor complex mu subunitAP-4 complex subunit mu-1adapter-related protein complex 4 mu-1 subunitadapter-related protein complex 4 subunit mu-1adaptor-related protein complex 4 subunit mu-1adaptor-related protein complex AP-4 mu4 subunitmu subu | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602296 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000221838 | ||
| HPRD : 03803 | ||
| Vega : OTTHUMG00000154722 | ||
| Protein | UniProt: O00189 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AP4M1 | |
| BioGPS: 9179 | ||
| Pathway | NCI Pathway Interaction Database: AP4M1 | |
| KEGG: AP4M1 | ||
| REACTOME: AP4M1 | ||
| Pathway Commons: AP4M1 | ||
| Context | iHOP: AP4M1 | |
| ligand binding site mutation search in PubMed: AP4M1 | ||
| UCL Cancer Institute: AP4M1 | ||
| 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 AP4M1 |
| 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 | F264 | E263K | HNSC | 1 | T280 | E278K | 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 AP4M1 |
| 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 | F264 | E263K | -1.361637 | T280 | E278K | -1.2718556 |
| (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 AP4M1 from PDB |
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| Differential gene expression and gene-gene network for AP4M1 |
| 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 AP4M1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3714756 | Intellectual Disability | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for AP4M1 |
| 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 AP4M1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (THR,TYR,LYS,PHE,PHE,GLU,GLN) | 3l81 | A | F264 T280 | III | Peptide ligand (THR,TYR,LYS,PHE,PHE,GLU,GLN) | 4mdr | A | T280 |
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| Conservation information for LBS of AP4M1 |
| Multiple alignments for O00189 in multiple species |
| LBS | AA sequence | # species | Species | E265 | NLDEFESHRIL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E265 | RLDSFDSDRTL | 1 | Arabidopsis thaliana | E265 | YLDEFESHRIL | 1 | Bos taurus | F255 | VDEVSFHSSVN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F255 | LDDCNFHESVR | 1 | Arabidopsis thaliana | F255 | VDEVSFHSSVY | 1 | Bos taurus | F264 | VNLDEFESHRI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F264 | VRLDSFDSDRT | 1 | Arabidopsis thaliana | F264 | VYLDEFESHRI | 1 | Bos taurus | H256 | DEVSFHSSVNL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H256 | DDCNFHESVRL | 1 | Arabidopsis thaliana | H256 | DEVSFHSSVYL | 1 | Bos taurus | L261 | HSSVNLDEFES | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L261 | HESVRLDSFDS | 1 | Arabidopsis thaliana | L261 | HSSVYLDEFES | 1 | Bos taurus | R283 | ELTVMRYQLSD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R283 | EFPVMNYRMTQ | 1 | Arabidopsis thaliana | S254 | RVDEVSFHSSV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S254 | ILDDCNFHESV | 1 | Arabidopsis thaliana | S257 | EVSFHSSVNLD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S257 | DCNFHESVRLD | 1 | Arabidopsis thaliana | S257 | EVSFHSSVYLD | 1 | Bos taurus | T280 | PQGELTVMRYQ | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T280 | PDGEFPVMNYR | 1 | Arabidopsis thaliana | V259 | SFHSSVNLDEF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V259 | NFHESVRLDSF | 1 | Arabidopsis thaliana | V259 | SFHSSVYLDEF | 1 | Bos taurus |
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