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mutLBSgeneDB |
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| Gene summary for ARRDC3 |
 Gene summary |
| Basic gene Info. | Gene symbol | ARRDC3 |
| Gene name | arrestin domain containing 3 | |
| Synonyms | TLIMP | |
| Cytomap | UCSC genome browser: 5q14.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_020801.2, | |
| Description | TBP-2-like inducible membrane proteinalpha-arrestin 3arrestin domain-containing protein 3thioredoxin-binding protein-2-like inducible membrane | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 612464 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000113369 | ||
| HPRD : 09810 | ||
| Vega : OTTHUMG00000162616 | ||
| Protein | UniProt: Q96B67 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ARRDC3 | |
| BioGPS: 57561 | ||
| Pathway | NCI Pathway Interaction Database: ARRDC3 | |
| KEGG: ARRDC3 | ||
| REACTOME: ARRDC3 | ||
| Pathway Commons: ARRDC3 | ||
| Context | iHOP: ARRDC3 | |
| ligand binding site mutation search in PubMed: ARRDC3 | ||
| UCL Cancer Institute: ARRDC3 | ||
| 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 ARRDC3 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R52 | R52G | COAD | 1 | K45 | S46F | COAD | 1 | K45 | S46Y | COAD | 1 | H50 | I49S | COAD | 1 | R52 | R52S | COAD | 1 | R135 | R135C | GBM | 1 | R135,W137 | Y136C | STAD | 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 ARRDC3 |
| 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 | H50 | I49S | -1.6957029 | R135 | R135C | -1.2946094 | R52 | R52G | -0.97268466 | R52 | R52S | -0.7811962 | W137 | Y136C | -0.77338297 | R135 | Y136C | -0.77338297 | K45 | S46Y | -0.64674606 | K45 | S46F | -0.60759025 |
| (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 ARRDC3 from PDB |
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| Differential gene expression and gene-gene network for ARRDC3 |
| 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 ARRDC3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1458155 | Breast 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 ARRDC3 |
| 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 ARRDC3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PO4 | PHOSPHATE ION | 4r7x | A | H50 | PO4 | PHOSPHATE ION | 4r7x | B | H50 | PO4 | PHOSPHATE ION | 4r7x | A | K45 | PO4 | PHOSPHATE ION | 4r7x | A | R135 W137 | PO4 | PHOSPHATE ION | 4r7x | B | R135 W137 | PO4 | PHOSPHATE ION | 4r7x | B | R52 |
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| Conservation information for LBS of ARRDC3 |
| Multiple alignments for Q96B67 in multiple species |
| LBS | AA sequence | # species | Species | E141 | YWVKAELHRPW | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | H103 | SEEGFHTIHSG | 2 | Homo sapiens, Mus musculus | H103 | SEEGFNTIHSG | 1 | Bos taurus | H103 | CEEGFSTIHSG | 1 | Rattus norvegicus | H110 | IHSGRHEYAFS | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | H143 | VKAELHRPWLL | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | H50 | KSLKIHARGHA | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | H54 | IHARGHAKVRW | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | K139 | VRYWVKAELHR | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | K151 | WLLPVKLKKEF | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | K153 | LPVKLKKEFTV | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | K45 | GEIRVKSLKIH | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | K56 | ARGHAKVRWTE | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | P149 | RPWLLPVKLKK | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | R135 | RHGSVRYWVKA | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | R52 | LKIHARGHAKV | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | R58 | GHAKVRWTESR | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | W137 | GSVRYWVKAEL | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | Y112 | SGRHEYAFSFE | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus |
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