mutLBSgeneDB |
Gene summary for AMFR |
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Basic gene Info. | Gene symbol | AMFR |
Gene name | autocrine motility factor receptor, E3 ubiquitin protein ligase | |
Synonyms | GP78|RNF45 | |
Cytomap | UCSC genome browser: 16q21 | |
Type of gene | protein-coding | |
RefGenes | NM_001144.5, NM_138958.1, | |
Description | E3 ubiquitin-protein ligase AMFRRING finger protein 45 | |
Modification date | 20141207 | |
dbXrefs | MIM : 603243 | |
HGNC : HGNC | ||
Ensembl : ENSG00000159461 | ||
HPRD : 09130 | ||
Vega : OTTHUMG00000133239 | ||
Protein | UniProt: Q9UKV5 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_AMFR | |
BioGPS: 267 | ||
Pathway | NCI Pathway Interaction Database: AMFR | |
KEGG: AMFR | ||
REACTOME: AMFR | ||
Pathway Commons: AMFR | ||
Context | iHOP: AMFR | |
ligand binding site mutation search in PubMed: AMFR | ||
UCL Cancer Institute: AMFR | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
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GO ID | GO Term | PubMed ID | GO:0000209 | protein polyubiquitination | 17310145 | GO:0030433 | ER-associated ubiquitin-dependent protein catabolic process | 11724934 | GO:0051259 | protein oligomerization | 17310145 |
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Ligand binding site mutations for AMFR |
![]() We represented ligand binding site mutations only. (You can see big image via clicking.) ![]() |
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LBS | AAchange of nsSNV | Cancer type | # samples | C364 | R366P | LUAD | 1 | C356 | L354V | 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 AMFR |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | C356 | L354V | -1.2380279 | C364 | R366P | -0.58432334 |
(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) |
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Differential gene expression and gene-gene network for AMFR |
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Phenotype information for AMFR |
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Disease ID | Disease name | # PubMed | Association type |
umls:C0002395 | Alzheimer Disease | 1 | Biomarker |
umls:C0242656 | Disease Progression | 1 | Biomarker |
umls:C0005695 | Urinary Bladder Neoplasms | 1 | Biomarker |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for AMFR |
![]() 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 status | DrugBank ID | Name | Type | Drug structure |
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Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2lxh | C | C356 | ZN | ZINC(2+) | 2lxp | C | C356 | ZN | ZINC(2+) | 4lad | B | C356 | ZN | ZINC(2+) | 2lxh | C | C364 | ZN | ZINC(2+) | 2lxp | C | C364 | ZN | ZINC(2+) | 4lad | B | C364 |
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Conservation information for LBS of AMFR |
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LBS | AA sequence | # species | Species | C341 | NNDD-CAICWD | 2 | Homo sapiens, Mus musculus | C341 | NGDDRCVVCWE | 1 | Caenorhabditis elegans | C344 | D-CAICWDSMQ | 2 | Homo sapiens, Mus musculus | C344 | DRCVVCWELLG | 1 | Caenorhabditis elegans | C356 | ARKLPCGHLFH | 2 | Homo sapiens, Mus musculus | C356 | SRRLPCSHQFH | 1 | Caenorhabditis elegans | C364 | LFHNSCLRSWL | 2 | Homo sapiens, Mus musculus | C364 | QFHDWCLMWWL | 1 | Caenorhabditis elegans | C375 | EQDTSCPTCRM | 2 | Homo sapiens, Mus musculus | C375 | AQDSSCPTCRC | 1 | Caenorhabditis elegans | C378 | TSCPTCRMSLN | 2 | Homo sapiens, Mus musculus | C378 | SSCPTCRCTIP | 1 | Caenorhabditis elegans | H358 | KLPCGHLFHNS | 2 | Homo sapiens, Mus musculus | H358 | RLPCSHQFHDW | 1 | Caenorhabditis elegans | H361 | CGHLFHNSCLR | 2 | Homo sapiens, Mus musculus | H361 | CSHQFHDWCLM | 1 | Caenorhabditis elegans |
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