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mutLBSgeneDB |
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| Gene summary for MEN1 |
 Gene summary |
| Basic gene Info. | Gene symbol | MEN1 |
| Gene name | multiple endocrine neoplasia I | |
| Synonyms | MEAI|SCG2 | |
| Cytomap | UCSC genome browser: 11q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000244.3, NM_130799.2,NM_130800.2,NM_130801.2,NM_130802.2, NM_130803.2,NM_130804.2, | |
| Description | menin | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 613733 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000133895 | ||
| HPRD : 00564 | ||
| Vega : OTTHUMG00000045366 | ||
| Protein | UniProt: O00255 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MEN1 | |
| BioGPS: 4221 | ||
| Pathway | NCI Pathway Interaction Database: MEN1 | |
| KEGG: MEN1 | ||
| REACTOME: MEN1 | ||
| Pathway Commons: MEN1 | ||
| Context | iHOP: MEN1 | |
| ligand binding site mutation search in PubMed: MEN1 | ||
| UCL Cancer Institute: MEN1 | ||
| 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:0000122 | negative regulation of transcription from RNA polymerase II promoter | 9989505 | GO:0000165 | MAPK cascade | 12226747 | GO:0001933 | negative regulation of protein phosphorylation | 12226747 | GO:0006974 | cellular response to DNA damage stimulus | 16690369 | GO:0008285 | negative regulation of cell proliferation | 15331604 | GO:0009411 | response to UV | 16690369 | GO:0010332 | response to gamma radiation | 12874027 | GO:0032092 | positive regulation of protein binding | 20484083 | GO:0034968 | histone lysine methylation | 14992727 | GO:0043433 | negative regulation of sequence-specific DNA binding transcription factor activity | 11526476 | GO:0045786 | negative regulation of cell cycle | 15331604 | GO:0045892 | negative regulation of transcription, DNA-templated | 12226747 | GO:0046329 | negative regulation of JNK cascade | 12226747 |
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| Ligand binding site mutations for MEN1 |
| 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 | A187 | W188R | COAD | 2 | S183 | S183P | COAD | 2 | Y324 | P325S | COAD | 1 | Y324 | P325H | COAD | 1 | W203 | G205D | GBM | 1 | R108 | R108L | LUSC | 1 | E364 | E363G | OV | 1 | E364 | E363K | SKCM | 1 | F243 | A242V | STAD | 1 | W203 | G205S | UCEC | 1 | G111 | G110W | UCEC | 1 | S159 | S159N | UCEC | 1 | N208 | E209K | 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. |
| Clinical information for MEN1 from My Cancer Genome. |
| Multiple endocrine neoplasia I (MEN1) is a gene that encodes menin. Menin is a tumor suppressor protein that functions in the inhibition of transcriptional activation. Missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame deletions and insertions are observed in cancers such as parathyroid cancer, retroperitoneal cancer, and thymus cancer.Modified: July 1, 2015 |
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| Protein structure related information for MEN1 |
| 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 | S183 | S183P | 0.068922604 | Y324 | P325S | -1.5346961 | Y324 | P325H | -1.5289458 | S159 | S159N | -1.3470044 | A187 | W188R | -1.1577953 | W203 | G205S | -1.0916134 | W203 | G205D | -1.0031427 | E364 | E363G | -0.86351943 | G111 | G110W | -0.7194277 | E364 | E363K | -0.65390145 | N208 | E209K | -0.59132512 | R108 | R108L | -0.53334645 | F243 | A242V | -0.22982941 |
| (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 MEN1 from PDB |
| PDB ID | PDB title | PDB structure | 3U84 | Crystal Structure of Human Menin |  |
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| Differential gene expression and gene-gene network for MEN1 |
| 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 MEN1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0025267 | Multiple Endocrine Neoplasia Type 1 | 225 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0206754 | Neuroendocrine Tumors | 38 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0017150 | Gastrinoma | 26 | Biomarker, GeneticVariation |
| umls:C0021670 | Insulinoma | 26 | Biomarker, GeneticVariation |
| umls:C0030297 | Pancreatic Neoplasms | 24 | Biomarker, GeneticVariation |
| umls:C1840402 | Hyperparathyroidism 1 | 14 | Biomarker, GeneticVariation |
| umls:C0206686 | Adrenocortical Carcinoma | 5 | Biomarker |
| umls:C0017689 | Glucagonoma | 5 | Biomarker |
| umls:C0011993 | Vipoma | 2 | Biomarker |
| umls:C0280089 | Carcinoid tumor of lung | 2 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MEN1 |
| 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 MEN1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GGB | L-CANAVANINE | 3u88 | A | R108 G111 |
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| Conservation information for LBS of MEN1 |
| Multiple alignments for O00255 in multiple species |
| LBS | AA sequence | # species | Species | A138 | YFKDRAHIQSL | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | A187 | LSEDHAWVVFG | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | A247 | AFMVCAINPSI | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | C246 | VAFMVCAINPS | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | D136 | RSYFKDRAHIQ | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | D158 | TGTKLDSSGVA | 4 | Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | D158 | VGTKLDSSGVA | 1 | Homo sapiens | D185 | LALSEDHAWVV | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | D290 | LGNLADLEELE | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | D375 | FEVANDVIPNL | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | E184 | HLALSEDHAWV | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | E364 | CREDEEIYKEF | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | E368 | EEIYKEFFEVA | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | E371 | YKEFFEVANDV | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | F134 | LSRSYFKDRAH | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | F243 | KMEVAFMVCAI | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | G111 | YPREGGVSSRE | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | H186 | ALSEDHAWVVF | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | K135 | SRSYFKDRAHI | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | K156 | --TGTKLDSSG | 3 | Mus musculus, Rattus norvegicus, Bos taurus | K156 | SPVGTKLDSSG | 1 | Homo sapiens | K156 | SPTGTKLDSSG | 1 | Canis lupus familiaris | L129 | VIWNSLSRSYF | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | L182 | DVHLALSEDHA | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | L254 | NPSIDLHTDSL | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | M283 | LERYPMALGNL | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | M327 | HIYPYMYLAGY | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | N208 | WHGKGNEDRRG | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | N249 | MVCAINPSIDL | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | N287 | PMALGNLADLE | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | R108 | LSLYPREGGVS | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | R131 | WNSLSRSYFKD | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | R137 | SYFKDRAHIQS | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | R176 | QALGLRDVHLA | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | S113 | REGGVSSRELV | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | S130 | IWNSLSRSYFK | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | S159 | GTKLDSSGVAF | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | S160 | TKLDSSGVAFA | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | S183 | VHLALSEDHAW | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | S251 | CAINPSIDLHT | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | V112 | PREGGVSSREL | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | V376 | EVANDVIPNLL | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | W126 | VSDVIWNSLSR | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | W203 | TAEVTWHGKGN | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | W346 | EALQAWADTAT | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | Y133 | SLSRSYFKDRA | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | Y281 | GHLERYPMALG | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | Y324 | RDEHIYPYMYL | 3 | Homo sapiens, Canis lupus familiaris, Bos taurus | Y324 | QDEHIYPYMYL | 2 | Mus musculus, Rattus norvegicus | Y328 | IYPYMYLAGYH | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus |
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