CR2Cancer

Summary
Symbol	MEN1
Name	menin 1
Aliases	menin; MEAI
Location	11q13
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Domain, Function and Classification > Gene Ontology > KEGG and Reactome Pathway

> Domain, Function and Classification

[ TOP ]

Domain

PF05053 Menin

Function

Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved in normal hematopoiesis through the activation of HOXA9 expression (By similarity). May be involved in DNA repair.

Classification

Class	Modification	Substrate	Product	PubMed
#	#	#	#	#

> Gene Ontology [ TOP ]
Biological Process	GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0001503 ossification GO:0001649 osteoblast differentiation GO:0001678 cellular glucose homeostasis GO:0001890 placenta development GO:0001893 maternal placenta development GO:0001933 negative regulation of protein phosphorylation GO:0002065 columnar/cuboidal epithelial cell differentiation GO:0002067 glandular epithelial cell differentiation GO:0002076 osteoblast development GO:0003309 type B pancreatic cell differentiation GO:0006469 negative regulation of protein kinase activity GO:0006479 protein methylation GO:0007162 negative regulation of cell adhesion GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007179 transforming growth factor beta receptor signaling pathway GO:0007254 JNK cascade GO:0007565 female pregnancy GO:0008213 protein alkylation GO:0009314 response to radiation GO:0009411 response to UV GO:0009416 response to light stimulus GO:0009743 response to carbohydrate GO:0009746 response to hexose GO:0009749 response to glucose GO:0010212 response to ionizing radiation GO:0010332 response to gamma radiation GO:0010810 regulation of cell-substrate adhesion GO:0010812 negative regulation of cell-substrate adhesion GO:0010948 negative regulation of cell cycle process GO:0016570 histone modification GO:0016571 histone methylation GO:0017015 regulation of transforming growth factor beta receptor signaling pathway GO:0018022 peptidyl-lysine methylation GO:0018205 peptidyl-lysine modification GO:0030278 regulation of ossification GO:0030279 negative regulation of ossification GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway GO:0031016 pancreas development GO:0031018 endocrine pancreas development GO:0031098 stress-activated protein kinase signaling cascade GO:0031589 cell-substrate adhesion GO:0032092 positive regulation of protein binding GO:0032259 methylation GO:0032872 regulation of stress-activated MAPK cascade GO:0032873 negative regulation of stress-activated MAPK cascade GO:0032924 activin receptor signaling pathway GO:0032925 regulation of activin receptor signaling pathway GO:0033500 carbohydrate homeostasis GO:0033673 negative regulation of kinase activity GO:0034284 response to monosaccharide GO:0034968 histone lysine methylation GO:0035270 endocrine system development GO:0035883 enteroendocrine cell differentiation GO:0042326 negative regulation of phosphorylation GO:0042593 glucose homeostasis GO:0043393 regulation of protein binding GO:0043409 negative regulation of MAPK cascade GO:0043414 macromolecule methylation GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity GO:0043434 response to peptide hormone GO:0044342 type B pancreatic cell proliferation GO:0044706 multi-multicellular organism process GO:0044770 cell cycle phase transition GO:0044843 cell cycle G1/S phase transition GO:0045667 regulation of osteoblast differentiation GO:0045668 negative regulation of osteoblast differentiation GO:0045736 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045786 negative regulation of cell cycle GO:0046328 regulation of JNK cascade GO:0046329 negative regulation of JNK cascade GO:0046697 decidualization GO:0048608 reproductive structure development GO:0050673 epithelial cell proliferation GO:0050678 regulation of epithelial cell proliferation GO:0050680 negative regulation of epithelial cell proliferation GO:0051052 regulation of DNA metabolic process GO:0051053 negative regulation of DNA metabolic process GO:0051090 regulation of sequence-specific DNA binding transcription factor activity GO:0051098 regulation of binding GO:0051099 positive regulation of binding GO:0051348 negative regulation of transferase activity GO:0051403 stress-activated MAPK cascade GO:0051972 regulation of telomerase activity GO:0051974 negative regulation of telomerase activity GO:0060135 maternal process involved in female pregnancy GO:0061458 reproductive system development GO:0061469 regulation of type B pancreatic cell proliferation GO:0070302 regulation of stress-activated protein kinase signaling cascade GO:0070303 negative regulation of stress-activated protein kinase signaling cascade GO:0071322 cellular response to carbohydrate stimulus GO:0071326 cellular response to monosaccharide stimulus GO:0071331 cellular response to hexose stimulus GO:0071333 cellular response to glucose stimulus GO:0071375 cellular response to peptide hormone stimulus GO:0071417 cellular response to organonitrogen compound GO:0071559 response to transforming growth factor beta GO:0071560 cellular response to transforming growth factor beta stimulus GO:0071897 DNA biosynthetic process GO:0071900 regulation of protein serine/threonine kinase activity GO:0071901 negative regulation of protein serine/threonine kinase activity GO:0090092 regulation of transmembrane receptor protein serine/threonine kinase signaling pathway GO:0090100 positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway GO:0090287 regulation of cellular response to growth factor stimulus GO:1901652 response to peptide GO:1901653 cellular response to peptide GO:1901987 regulation of cell cycle phase transition GO:1901988 negative regulation of cell cycle phase transition GO:1902532 negative regulation of intracellular signal transduction GO:1902806 regulation of cell cycle G1/S phase transition GO:1902807 negative regulation of cell cycle G1/S phase transition GO:1903844 regulation of cellular response to transforming growth factor beta stimulus GO:1903846 positive regulation of cellular response to transforming growth factor beta stimulus GO:1904029 regulation of cyclin-dependent protein kinase activity GO:1904030 negative regulation of cyclin-dependent protein kinase activity GO:1904837 beta-catenin-TCF complex assembly GO:2000278 regulation of DNA biosynthetic process GO:2000279 negative regulation of DNA biosynthetic process
Molecular Function	GO:0000217 DNA secondary structure binding GO:0000400 four-way junction DNA binding GO:0000403 Y-form DNA binding GO:0003682 chromatin binding GO:0008168 methyltransferase activity GO:0008170 N-methyltransferase activity GO:0008276 protein methyltransferase activity GO:0008757 S-adenosylmethionine-dependent methyltransferase activity GO:0016278 lysine N-methyltransferase activity GO:0016279 protein-lysine N-methyltransferase activity GO:0016741 transferase activity, transferring one-carbon groups GO:0018024 histone-lysine N-methyltransferase activity GO:0030674 protein binding, bridging GO:0042054 histone methyltransferase activity GO:0043566 structure-specific DNA binding GO:0046332 SMAD binding GO:0047485 protein N-terminus binding GO:0060090 binding, bridging GO:0070412 R-SMAD binding
Cellular Component	GO:0000781 chromosome, telomeric region GO:0000784 nuclear chromosome, telomeric region GO:0000785 chromatin GO:0000790 nuclear chromatin GO:0016363 nuclear matrix GO:0032153 cell division site GO:0032154 cleavage furrow GO:0032155 cell division site part GO:0034399 nuclear periphery GO:0034708 methyltransferase complex GO:0035097 histone methyltransferase complex GO:0044454 nuclear chromosome part GO:0097610 cell surface furrow GO:0098687 chromosomal region

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	R-HSA-3769402: Deactivation of the beta-catenin transactivating complex R-HSA-201722: Formation of the beta-catenin R-HSA-74160: Gene Expression R-HSA-212436: Generic Transcription Pathway R-HSA-195258: RHO GTPase Effectors R-HSA-5626467: RHO GTPases activate IQGAPs R-HSA-2173796: SMAD2/SMAD3 R-HSA-162582: Signal Transduction R-HSA-194315: Signaling by Rho GTPases R-HSA-170834: Signaling by TGF-beta Receptor Complex R-HSA-195721: Signaling by Wnt R-HSA-201681: TCF dependent signaling in response to WNT R-HSA-2173793: Transcriptional activity of SMAD2/SMAD3

> KEGG and Reactome Pathway

[ TOP ]

KEGG

Reactome

R-HSA-3769402: Deactivation of the beta-catenin transactivating complex
R-HSA-201722: Formation of the beta-catenin
R-HSA-74160: Gene Expression
R-HSA-212436: Generic Transcription Pathway
R-HSA-195258: RHO GTPase Effectors
R-HSA-5626467: RHO GTPases activate IQGAPs
R-HSA-2173796: SMAD2/SMAD3
R-HSA-162582: Signal Transduction
R-HSA-194315: Signaling by Rho GTPases
R-HSA-170834: Signaling by TGF-beta Receptor Complex
R-HSA-195721: Signaling by Wnt
R-HSA-201681: TCF dependent signaling in response to WNT
R-HSA-2173793: Transcriptional activity of SMAD2/SMAD3

Summary
Symbol	MEN1
Name	menin 1
Aliases	menin; MEAI
Location	11q13
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Mutation landscape in primary tumor tissue from TCGA > Mutation landscape in cancer cell line from CCLE > All mutations from COSMIC database V81 > Variations from text mining

> The Cancer Genome Atlas (TCGA) [ TOP ]

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM4970692	c.484G>C	p.V162L	Substitution - Missense	Central_nervous_system
COSM22590	c.242delC	p.D82fs*37	Deletion - Frameshift	Parathyroid
COSM23035	c.199_202delCCCG	p.A68fs*50	Deletion - Frameshift	Parathyroid
COSM255140	c.901_901delC	p.L301fs*67	Deletion - Frameshift	Parathyroid
COSM85852	c.652_653delCG	p.R218fs*13	Deletion - Frameshift	Pancreas
COSM22602	c.725_742del18	p.A242_I247del	Deletion - In frame	Parathyroid
COSM255150	c.1636_1637insCCACCGCC	p.E547fs*15	Insertion - Frameshift	Parathyroid
COSM23056	c.1033delG	p.A345fs*23	Deletion - Frameshift	Gastrointestinal_tract_(site_indeterminate)
COSM4997235	c.521A>C	p.H174P	Substitution - Missense	Pituitary
COSM22631	c.?	p.?	Unknown	Pancreas
COSM255162	c.?	p.Y227*	Substitution - Nonsense	Parathyroid
COSM1237321	c.1091_1095delTCTTT	p.F364fs*1	Deletion - Frameshift	Parathyroid
COSM22647	c.1252G>A	p.D418N	Substitution - Missense	Parathyroid
COSM22627	c.?	p.Q209*	Substitution - Nonsense	Small_intestine
COSM5092756	c.1454G>A	p.R485Q	Substitution - Missense	Large_intestine
COSM23021	c.1327T>C	p.S443P	Substitution - Missense	Parathyroid
COSM5961975	c.358A>T	p.K120*	Substitution - Nonsense	Breast
COSM255101	c.90_140del51	p.E30_F47>D	Complex - deletion inframe	Parathyroid
COSM3451582	c.1072G>A	p.E358K	Substitution - Missense	Skin
COSM23009	c.1045C>T	p.Q349*	Substitution - Nonsense	Skin
COSM5946129	c.?	p.L117fs*?	Deletion - Frameshift	Pituitary
COSM85835	c.88G>T	p.E30*	Substitution - Nonsense	Pancreas
COSM22594	c.758C>T	p.S253L	Substitution - Missense	Stomach
COSM22665	c.1162G>T	p.E388*	Substitution - Nonsense	Parathyroid
COSM5762503	c.1013T>C	p.L338P	Substitution - Missense	Pancreas
COSM23051	c.1546_1547insC	p.R516fs*15	Insertion - Frameshift	Parathyroid
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM1716065	c.349C>G	p.L117V	Substitution - Missense	Small_intestine
COSM312833	c.1287G>A	p.T429T	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1577230	c.593G>A	p.W198*	Substitution - Nonsense	Parathyroid
COSM1577241	c.759_771del13	p.L254fs*23	Deletion - Frameshift	Parathyroid
COSM1604979	c.678A>G	p.S226S	Substitution - coding silent	Liver
COSM22585	c.1102_1108delGCCAATG	p.A368fs*7	Deletion - Frameshift	Small_intestine
COSM22625	c.?	p.Q450*	Substitution - Nonsense	Pancreas
COSM23062	c.83_118del36	p.G28_L39del	Deletion - In frame	Parathyroid
COSM5999732	c.1619C>G	p.P540R	Substitution - Missense	Prostate
COSM4767610	c.472G>A	p.A158T	Substitution - Missense	Biliary_tract
COSM22572	c.?	p.R415*	Substitution - Nonsense	Parathyroid
COSM4701743	c.1159G>A	p.E387K	Substitution - Missense	Large_intestine
COSM3809983	c.1802C>G	p.S601C	Substitution - Missense	Breast
COSM22618	c.435C>G	p.S145R	Substitution - Missense	Pancreas
COSM255106	c.152_153delAC	p.N51fs*65	Deletion - Frameshift	Parathyroid
COSM23399	c.1405G>T	p.E469*	Substitution - Nonsense	Parathyroid
COSM22659	c.533_534insC	p.E179fs*1	Insertion - Frameshift	Gastrointestinal_tract_(site_indeterminate)
COSM23398	c.249_252delGTCT	p.I85fs*33	Deletion - Frameshift	Parathyroid
COSM1355797	c.989G>A	p.R330H	Substitution - Missense	Adrenal_gland
COSM3724540	c.98_105delACCTGGTG	p.D33fs*81	Deletion - Frameshift	Lung
COSM22644	c.445+?C>T	p.?	Unknown	Pituitary
COSM5025104	c.655-5delC	p.?	Unknown	Large_intestine
COSM23067	c.?	p.A49D	Substitution - Missense	Parathyroid
COSM23015	c.252_253insT	p.I85fs*32	Insertion - Frameshift	Parathyroid
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Lung
COSM22646	c.322C>T	p.R108*	Substitution - Nonsense	Pancreas
COSM4609662	c.304_311delGACCTGTC	p.D102fs*12	Deletion - Frameshift	Adrenal_gland
COSM689654	c.323G>T	p.R108L	Substitution - Missense	Lung
COSM22612	c.440_442delTCA	p.I147del	Deletion - In frame	Pancreas
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM4497019	c.473C>T	p.A158V	Substitution - Missense	Skin
COSM4135695	c.536A>G	p.E179G	Substitution - Missense	Pancreas
COSM23019	c.95C>G	p.P32R	Substitution - Missense	Pancreas
COSM23011	c.1361_1362delAG	p.K454fs*76	Deletion - Frameshift	Parathyroid
COSM22639	c.794delG	p.W265fs*16	Deletion - Frameshift	Gastrointestinal_tract_(site_indeterminate)
COSM1355790	c.1740G>A	p.T580T	Substitution - coding silent	Large_intestine
COSM3724542	c.1220_1221delCT	p.P407fs*41	Deletion - Frameshift	Lung
COSM255215	c.646G>A	p.A216T	Substitution - Missense	Lung
COSM23051	c.1546_1547insC	p.R516fs*15	Insertion - Frameshift	Breast
COSM255125	c.491_493delCCT	p.A164_C165>G	Complex - deletion inframe	Parathyroid
COSM5739305	c.1567G>A	p.A523T	Substitution - Missense	Small_intestine
COSM255116	c.?	p.Q96*	Substitution - Nonsense	Parathyroid
COSM250168	c.446_446delG	p.G149fs*36	Deletion - Frameshift	Parathyroid
COSM23036	c.291_292delCC	p.I97fs*19	Deletion - Frameshift	Parathyroid
COSM23063	c.292delC	p.R98fs*21	Deletion - Frameshift	Parathyroid
COSM211759	c.113_123del11	p.S38fs*75	Deletion - Frameshift	Parathyroid
COSM255122	c.?	p.L152F	Substitution - Missense	Parathyroid
COSM3809985	c.323G>C	p.R108P	Substitution - Missense	Breast
COSM23060	c.654+2T>A	p.?	Unknown	Pancreas
COSM23051	c.1546_1547insC	p.R516fs*15	Insertion - Frameshift	Stomach
COSM23398	c.249_252delGTCT	p.I85fs*33	Deletion - Frameshift	Lung
COSM2164473	c.1367G>A	p.R456H	Substitution - Missense	Large_intestine
COSM255127	c.?	p.S178P	Substitution - Missense	Parathyroid
COSM22662	c.536A>T	p.E179V	Substitution - Missense	Pancreas
COSM85840	c.282_282delC	p.A95fs*24	Deletion - Frameshift	Pancreas
COSM5020195	c.1049+9C>T	p.?	Unknown	Soft_tissue
COSM22661	c.?_?delTGTC	p.?fs	Deletion - Frameshift	Soft_tissue
COSM255124	c.?	p.V161F	Substitution - Missense	Parathyroid
COSM22573	c.1351delG	p.V451fs*7	Deletion - Frameshift	Lung
COSM1577236	c.1357C>T	p.Q453*	Substitution - Nonsense	Parathyroid
COSM5413593	c.1409C>T	p.P470L	Substitution - Missense	Prostate
COSM4963776	c.1050-1G>A	p.?	Unknown	Pancreas
COSM2164481	c.939T>A	p.Y313*	Substitution - Nonsense	Prostate
COSM85833	c.50_53delACGA	p.D17fs*101	Deletion - Frameshift	Pancreas
COSM23037	c.?	p.R98*	Substitution - Nonsense	Parathyroid
COSM22619	c.248_251delTGTC	p.I85fs*33	Deletion - Frameshift	Pancreas
COSM4767408	c.?_?del?	p.A465_A467del	Deletion - In frame	Thyroid
COSM23039	c.?	p.G156D	Substitution - Missense	Parathyroid
COSM5716562	c.897C>T	p.L299L	Substitution - coding silent	Skin
COSM23019	c.95C>G	p.P32R	Substitution - Missense	Parathyroid
COSM22569	c.1318_1319delCT	p.L440fs*8	Deletion - Frameshift	Thymus
COSM2164478	c.1071C>T	p.D357D	Substitution - coding silent	Large_intestine
COSM1355794	c.1546delC	p.R516fs*43	Deletion - Frameshift	Thyroid
COSM4445247	c.812G>C	p.G271A	Substitution - Missense	Adrenal_gland
COSM22620	c.989G>C	p.R330P	Substitution - Missense	Pancreas
COSM43351	c.207_207delC	p.D70fs*49	Deletion - Frameshift	Parathyroid
COSM23153	c.?	p.Q166*	Substitution - Nonsense	Gastrointestinal_tract_(site_indeterminate)
COSM85846	c.79_95del17	p.L27fs*84	Deletion - Frameshift	Pancreas
COSM162453	c.1779C>A	p.S593S	Substitution - coding silent	Breast
COSM255135	c.?	p.L264P	Substitution - Missense	Parathyroid
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM22592	c.597_597C>GG	p.H199fs*19	Complex - frameshift	Parathyroid
COSM23059	c.?	p.?	Unknown	Pancreas
COSM22617	c.484_485GT>TG	p.V162C	Substitution - Missense	Pancreas
COSM22611	c.422A>G	p.Q141R	Substitution - Missense	Pancreas
COSM85854	c.800_822del23	p.L267fs*42	Deletion - Frameshift	Pancreas
COSM23018	c.178G>T	p.E60*	Substitution - Nonsense	Parathyroid
COSM22645	c.76G>A	p.E26K	Substitution - Missense	Parathyroid
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM255145	c.1341_1341delT	p.F447fs*11	Deletion - Frameshift	Parathyroid
COSM22634	c.?	p.H139D	Substitution - Missense	Parathyroid
COSM1704226	c.590_591CC>TT	p.T197I	Substitution - Missense	Skin
COSM23020	c.1324C>T	p.Q442*	Substitution - Nonsense	Parathyroid
COSM255111	c.205_206insC	p.D70fs*47	Insertion - Frameshift	Parathyroid
COSM4169845	c.?	p.F43fs*74	Unknown	Adrenal_gland
COSM1355794	c.1546delC	p.R516fs*43	Deletion - Frameshift	Large_intestine
COSM22655	c.?	p.L175R	Substitution - Missense	Parathyroid
COSM23051	c.1546_1547insC	p.R516fs*15	Insertion - Frameshift	Large_intestine
COSM23398	c.249_252delGTCT	p.I85fs*33	Deletion - Frameshift	Bone
COSM23036	c.291_292delCC	p.I97fs*19	Deletion - Frameshift	Parathyroid
COSM1577227	c.152_152delA	p.N51fs*68	Deletion - Frameshift	Parathyroid
COSM255113	c.241_242insG	p.A81fs*36	Insertion - Frameshift	Parathyroid
COSM255139	c.?	p.P277R	Substitution - Missense	Parathyroid
COSM85830	c.674G>T	p.G225V	Substitution - Missense	Pancreas
COSM25821	c.1256delG	p.G419fs*26	Deletion - Frameshift	Parathyroid
COSM4767404	c.?_?del?	p.I247fs*?	Deletion - Frameshift	Thyroid
COSM22641	c.1050_1051delCT	p.?	Unknown	Gastrointestinal_tract_(site_indeterminate)
COSM4767406	c.?_?del?	p.G111fs*?	Deletion - Frameshift	Thyroid
COSM23002	c.981C>G	p.Y327*	Substitution - Nonsense	Parathyroid
COSM255129	c.499_523del25	p.A167fs*10	Deletion - Frameshift	Parathyroid
COSM5080147	c.766C>A	p.L256I	Substitution - Missense	Large_intestine
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM4135694	c.1049+1G>C	p.?	Unknown	Pancreas
COSM255126	c.495_495delC	p.Q166fs*19	Deletion - Frameshift	Parathyroid
COSM236791	c.1249T>A	p.Y417N	Substitution - Missense	Prostate
COSM3967728	c.995G>A	p.R332H	Substitution - Missense	Central_nervous_system
COSM51688	c.362T>A	p.V121D	Substitution - Missense	Parathyroid
COSM22622	c.620delG	p.G208fs*16	Deletion - Frameshift	Small_intestine
COSM1237322	c.559_568del10	p.P188fs*33	Deletion - Frameshift	Parathyroid
COSM23059	c.?	p.?	Unknown	Small_intestine
COSM23052	c.445+2delTTGG	p.?	Unknown	Parathyroid
COSM22586	c.1604C>T	p.A535V	Substitution - Missense	Pancreas
COSM23151	c.402delC	p.F134fs*51	Deletion - Frameshift	Gastrointestinal_tract_(site_indeterminate)
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM22594	c.758C>T	p.S253L	Substitution - Missense	Parathyroid
COSM3398027	c.599G>A	p.G200D	Substitution - Missense	Central_nervous_system
COSM255138	c.?	p.Y276*	Substitution - Nonsense	Parathyroid
COSM23068	c.?	p.W126*	Substitution - Nonsense	Parathyroid
COSM255142	c.1084_1091delAAGGAGTT	p.K362fs*2	Deletion - Frameshift	Parathyroid
COSM30787	c.1217delA	p.D406fs*39	Deletion - Frameshift	Retroperitoneum
COSM23016	c.?	p.W341*	Substitution - Nonsense	Parathyroid
COSM23057	c.?	p.H433P	Substitution - Missense	Small_intestine
COSM1298393	c.1716G>A	p.S572S	Substitution - coding silent	Urinary_tract
COSM255143	c.1231_1231delG	p.A411fs*34	Deletion - Frameshift	Parathyroid
COSM3791778	c.1809C>G	p.L603L	Substitution - coding silent	Urinary_tract
COSM23048	c.1154_1155insG	p.E387fs*22	Insertion - Frameshift	Parathyroid
COSM23015	c.252_253insT	p.I85fs*32	Insertion - Frameshift	Parathyroid
COSM5946128	c.?	p.K454fs*?	Deletion - Frameshift	Pituitary
COSM23001	c.1116delC	p.N374fs*3	Deletion - Frameshift	Lung
COSM22600	c.1606C>T	p.Q536*	Substitution - Nonsense	Oesophagus
COSM22654	c.671_675delAAGGA	p.K224fs*6	Deletion - Frameshift	Parathyroid
COSM930216	c.1206C>T	p.S402S	Substitution - coding silent	Endometrium
COSM23068	c.?	p.W126*	Substitution - Nonsense	Parathyroid
COSM85853	c.491C>T	p.A164V	Substitution - Missense	Pancreas
COSM3724539	c.473C>A	p.A158D	Substitution - Missense	Lung
COSM22579	c.256A>T	p.I86F	Substitution - Missense	Small_intestine
COSM255146	c.1431_1440del10	p.E477fs*79	Deletion - Frameshift	Parathyroid
COSM363656	c.650A>T	p.E217V	Substitution - Missense	Lung
COSM85834	c.817_818delCT	p.L273fs*43	Deletion - Frameshift	Pancreas
COSM22637	c.44_59del16	p.S15fs*99	Deletion - Frameshift	Parathyroid
COSM3359465	c.429C>T	p.L143L	Substitution - coding silent	Kidney
COSM22622	c.620delG	p.G208fs*16	Deletion - Frameshift	Small_intestine
COSM23023	c.1482_1483insC	p.K496fs*35	Insertion - Frameshift	Parathyroid
COSM1577232	c.833_858del26	p.M278fs*30	Deletion - Frameshift	Parathyroid
COSM1659156	c.496C>T	p.Q166*	Substitution - Nonsense	Central_nervous_system
COSM4035255	c.988C>T	p.R330C	Substitution - Missense	Stomach
COSM23064	c.794_802del9	p.W265_L267del	Deletion - In frame	Parathyroid
COSM23017	c.398_430del33	p.Y133_L143del	Deletion - In frame	Parathyroid
COSM3718424	c.1025C>T	p.A342V	Substitution - Missense	Upper_aerodigestive_tract
COSM23041	c.?	p.A284P	Substitution - Missense	Parathyroid
COSM291152	c.660G>A	p.W220*	Substitution - Nonsense	Large_intestine
COSM1577234	c.1248_1267del20	p.F416fs*26	Deletion - Frameshift	Parathyroid
COSM4553769	c.585G>A	p.E195E	Substitution - coding silent	Skin
COSM23156	c.1623_1652del30	p.A542_L551del	Deletion - In frame	Gastrointestinal_tract_(site_indeterminate)
COSM5946129	c.?	p.L117fs*?	Deletion - Frameshift	Pituitary
COSM23159	c.1413G>A	p.W471*	Substitution - Nonsense	Central_nervous_system
COSM255103	c.?	p.G42V	Substitution - Missense	Parathyroid
COSM255114	c.?	p.L89R	Substitution - Missense	Parathyroid
COSM22649	c.1169_1170ins11	p.G391fs*58	Insertion - Frameshift	Parathyroid
COSM1237074	c.1351-1_1357delGGTGCGGC	p.?	Unknown	Parathyroid
COSM5999732	c.1619C>G	p.P540R	Substitution - Missense	Prostate
COSM22576	c.654+3A>G	p.?	Unknown	Parathyroid
COSM255149	c.1635_1635delG	p.P546fs*13	Deletion - Frameshift	Parathyroid
COSM23054	c.512G>A	p.R171Q	Substitution - Missense	Prostate
COSM1604980	c.655-1G>A	p.?	Unknown	Liver
COSM22663	c.959C>T	p.P320L	Substitution - Missense	Parathyroid
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM23051	c.1546_1547insC	p.R516fs*15	Insertion - Frameshift	Parathyroid
COSM1237092	c.491C>A	p.A164D	Substitution - Missense	Parathyroid
COSM255097	c.272_275delCCCG	p.R92fs*26	Deletion - Frameshift	Parathyroid
COSM255147	c.?	p.S512*	Substitution - Nonsense	Parathyroid
COSM85850	c.581_582insACAG	p.E195fs*2	Insertion - Frameshift	Pancreas
COSM22624	c.515A>T	p.D172V	Substitution - Missense	Lung
COSM255109	c.?	p.Q64*	Substitution - Nonsense	Parathyroid
COSM22635	c.1313_1331del19	p.T438fs*14	Deletion - Frameshift	Parathyroid
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM22572	c.?	p.R415*	Substitution - Nonsense	Pancreas
COSM4641531	c.1395C>T	p.A465A	Substitution - coding silent	Large_intestine
COSM22642	c.403A>T	p.K135*	Substitution - Nonsense	Soft_tissue
COSM23015	c.252_253insT	p.I85fs*32	Insertion - Frameshift	Lung
COSM250167	c.625C>T	p.Q209*	Substitution - Nonsense	Parathyroid
COSM23154	c.673delG	p.G225fs*56	Deletion - Frameshift	Gastrointestinal_tract_(site_indeterminate)
COSM3752612	c.1254C>T	p.D418D	Substitution - coding silent	Thyroid
COSM23065	c.372_393del22	p.I125fs*53	Deletion - Frameshift	Parathyroid
COSM1237311	c.784-1G>C	p.?	Unknown	Parathyroid
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM22652	c.806_824del19	p.?	Unknown	Pituitary
COSM23025	c.1654A>T	p.T552S	Substitution - Missense	Adrenal_gland
COSM22616	c.660_668del9	p.L221_L223del	Deletion - In frame	Pancreas
COSM255134	c.?	p.Q260*	Substitution - Nonsense	Parathyroid
COSM85837	c.159_165delCATCCCT	p.I54fs*63	Deletion - Frameshift	Pancreas
COSM1355794	c.1546delC	p.R516fs*43	Deletion - Frameshift	Liver
COSM3809984	c.324A>T	p.R108R	Substitution - coding silent	Breast
COSM22638	c.124G>A	p.G42S	Substitution - Missense	Parathyroid
COSM23024	c.824+2T>G	p.?	Unknown	Parathyroid
COSM4035257	c.710C>T	p.A237V	Substitution - Missense	Stomach
COSM401231	c.1813C>A	p.R605R	Substitution - coding silent	Lung
COSM22610	c.210_225del16	p.D70fs*44	Deletion - Frameshift	Pancreas
COSM22633	c.405delG	p.D136fs*49	Deletion - Frameshift	Parathyroid
COSM255107	c.182_183insG	p.T62fs*55	Insertion - Frameshift	Parathyroid
COSM22575	c.1539_1540insC	p.R516fs*15	Insertion - Frameshift	Lung
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM5188123	c.652C>T	p.R218W	Substitution - Missense	Large_intestine
COSM22576	c.654+3A>G	p.?	Unknown	Parathyroid
COSM22570	c.266T>G	p.L89R	Substitution - Missense	Pancreas
COSM23022	c.151delA	p.N51fs*68	Deletion - Frameshift	Parathyroid
COSM1257620	c.753C>T	p.T251T	Substitution - coding silent	Stomach
COSM255104	c.?	p.E45K	Substitution - Missense	Parathyroid
COSM4445250	c.1336C>T	p.R446C	Substitution - Missense	Adrenal_gland
COSM23020	c.1324C>T	p.Q442*	Substitution - Nonsense	Pancreas
COSM255100	c.89_91delAGG	p.E31del	Deletion - In frame	Parathyroid
COSM4558735	c.763G>A	p.E255K	Substitution - Missense	Skin
COSM1355794	c.1546delC	p.R516fs*43	Deletion - Frameshift	Large_intestine
COSM4806006	c.22A>T	p.K8*	Substitution - Nonsense	Liver
COSM4773979	c.230delA	p.Y77fs*42	Deletion - Frameshift	Stomach
COSM22666	c.1378C>T	p.R460*	Substitution - Nonsense	Parathyroid
COSM1237837	c.1248C>G	p.F416L	Substitution - Missense	Thyroid
COSM23024	c.824+2T>G	p.?	Unknown	Parathyroid
COSM22614	c.1159delG	p.E387fs*58	Deletion - Frameshift	Pancreas
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM255132	c.721_724delTGTG	p.C241fs*39	Deletion - Frameshift	Parathyroid
COSM1355794	c.1546delC	p.R516fs*43	Deletion - Frameshift	Large_intestine
COSM22570	c.266T>G	p.L89R	Substitution - Missense	Parathyroid
COSM255117	c.303_316del14	p.D102fs*10	Deletion - Frameshift	Parathyroid
COSM3451583	c.702G>A	p.M234I	Substitution - Missense	Skin
COSM22664	c.981_982insAGC	p.Y327_H328insS	Insertion - In frame	Parathyroid
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM85839	c.959C>G	p.P320R	Substitution - Missense	Pancreas
COSM22599	c.871C>G	p.P291A	Substitution - Missense	Parathyroid
COSM255110	c.201_202insG	p.A68fs*49	Insertion - Frameshift	Parathyroid
COSM1604978	c.1718_1723delGCGCCA	p.S573_A574delSA	Deletion - In frame	Liver
COSM6005556	c.293G>A	p.R98Q	Substitution - Missense	Prostate
COSM4923661	c.715A>G	p.M239V	Substitution - Missense	Liver
COSM5752436	c.1015_1022delCAGGCCTG	p.Q339fs*25	Deletion - Frameshift	Breast
COSM23042	c.?	p.K310*	Substitution - Nonsense	Parathyroid
COSM23152	c.419delT	p.I140fs*45	Deletion - Frameshift	Gastrointestinal_tract_(site_indeterminate)
COSM429562	c.387C>G	p.L129L	Substitution - coding silent	Breast
COSM4649476	c.881G>A	p.G294D	Substitution - Missense	Large_intestine
COSM22608	c.292C>T	p.R98*	Substitution - Nonsense	Parathyroid
COSM23053	c.912+1delG	p.?	Unknown	Parathyroid
COSM4963751	c.912+1G>T	p.?	Unknown	Pancreas
COSM4805895	c.1023G>A	p.W341*	Substitution - Nonsense	Liver
COSM4972245	c.1759delA	p.M587fs*1	Deletion - Frameshift	Thyroid
COSM930218	c.610G>A	p.E204K	Substitution - Missense	Endometrium
COSM85843	c.1_109del109	p.M1fs*82	Deletion - Frameshift	Pancreas
COSM22596	c.1739C>G	p.T580R	Substitution - Missense	Parathyroid
COSM1577239	c.446-?_783+?del	p.?	Unknown	Parathyroid
COSM211761	c.207_220del14	p.D70fs*42	Deletion - Frameshift	Parathyroid
COSM23054	c.512G>A	p.R171Q	Substitution - Missense	Prostate
COSM1577237	c.783+1G>T	p.?	Unknown	Parathyroid
COSM23054	c.512G>A	p.R171Q	Substitution - Missense	Adrenal_gland
COSM255120	c.363_367delCTCCG	p.S122fs*56	Deletion - Frameshift	Parathyroid
COSM23049	c.1240_1275del36	p.L414_E425del	Deletion - In frame	Parathyroid
COSM4767407	c.?_?del?	p.A464_E468del	Deletion - In frame	Thyroid
COSM22574	c.24_36del13	p.K8fs*107	Deletion - Frameshift	Lung
COSM23055	c.378G>A	p.W126*	Substitution - Nonsense	Adrenal_gland
COSM255119	c.361_362insGGAG	p.V121fs*60	Insertion - Frameshift	Parathyroid
COSM22609	c.533C>A	p.S178Y	Substitution - Missense	Pancreas
COSM4445249	c.808C>A	p.L270M	Substitution - Missense	Adrenal_gland
COSM22622	c.620delG	p.G208fs*16	Deletion - Frameshift	Small_intestine
COSM22568	c.325G>T	p.E109*	Substitution - Nonsense	Adrenal_gland
COSM390459	c.329G>C	p.G110A	Substitution - Missense	Lung
COSM22577	c.247_250delCTGT	p.I85fs*33	Deletion - Frameshift	Small_intestine
COSM4607519	c.1342G>T	p.E448*	Substitution - Nonsense	Adrenal_gland
COSM23040	c.?	p.W183R	Substitution - Missense	Parathyroid
COSM255163	c.?	p.?	Unknown	Parathyroid
COSM1577235	c.1298_1311>GCA	p.H433fs*12	Complex - frameshift	Parathyroid
COSM22594	c.758C>T	p.S253L	Substitution - Missense	Prostate
COSM22608	c.292C>T	p.R98*	Substitution - Nonsense	Pancreas
COSM4035256	c.781C>T	p.Q261*	Substitution - Nonsense	Stomach
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM22662	c.536A>T	p.E179V	Substitution - Missense	Liver
COSM23050	c.1360delA	p.K454fs*4	Deletion - Frameshift	Parathyroid
COSM85842	c.1198C>T	p.Q400*	Substitution - Nonsense	Pancreas
COSM3791779	c.923C>T	p.S308L	Substitution - Missense	Urinary_tract
COSM23046	c.161_162insG	p.I54fs*63	Insertion - Frameshift	Parathyroid
COSM1577233	c.936C>G	p.Y312*	Substitution - Nonsense	Parathyroid
COSM5762487	c.524T>C	p.L175P	Substitution - Missense	Pancreas
COSM5946128	c.?	p.K454fs*?	Deletion - Frameshift	Pituitary
COSM23158	c.196_201AGCCCC>T	p.S66fs*49	Complex - frameshift	Gastrointestinal_tract_(site_indeterminate)
COSM4135696	c.505G>T	p.G169C	Substitution - Missense	Pancreas
COSM23159	c.1413G>A	p.W471*	Substitution - Nonsense	Central_nervous_system
COSM255121	c.401_401delT	p.F134fs*51	Deletion - Frameshift	Parathyroid
COSM43352	c.1716_1721delGAGCGC	p.S573_A574del	Deletion - In frame	Parathyroid
COSM22603	c.111_112insT	p.S38fs*79	Insertion - Frameshift	Parathyroid
COSM85847	c.548G>A	p.W183*	Substitution - Nonsense	Pancreas
COSM40313	c.909C>T	p.H303H	Substitution - coding silent	Central_nervous_system
COSM22640	c.354_356delGAA	p.K119del	Deletion - In frame	Parathyroid
COSM255141	c.1091_1099del9	p.F364_V367>L	Complex - deletion inframe	Parathyroid
COSM5967213	c.32_33insA	p.F11fs*106	Insertion - Frameshift	Salivary_gland
COSM22656	c.1034delC	p.T346fs*22	Deletion - Frameshift	Parathyroid
COSM4135692	c.1267T>C	p.W423R	Substitution - Missense	Pancreas
COSM4387145	c.1243C>T	p.R415*	Substitution - Nonsense	Lung
COSM4199425	c.510C>T	p.L170L	Substitution - coding silent	Skin
COSM4701742	c.1396G>A	p.E466K	Substitution - Missense	Large_intestine
COSM23051	c.1546_1547insC	p.R516fs*15	Insertion - Frameshift	Parathyroid
COSM3746251	c.1021T>G	p.W341G	Substitution - Missense	Liver
COSM22622	c.620delG	p.G208fs*16	Deletion - Frameshift	Gastrointestinal_tract_(site_indeterminate)
COSM4767403	c.?_?del?	p.V173fs*?	Deletion - Frameshift	Thyroid
COSM307055	c.654G>T	p.R218R	Substitution - coding silent	Central_nervous_system
COSM22636	c.258_261delCGCC	p.I86fs*32	Deletion - Frameshift	Parathyroid
COSM22632	c.?	p.L152W	Substitution - Missense	Parathyroid
COSM22627	c.?	p.Q209*	Substitution - Nonsense	Parathyroid
COSM22648	c.1682T>C	p.M561T	Substitution - Missense	Parathyroid
COSM23398	c.249_252delGTCT	p.I85fs*33	Deletion - Frameshift	Pancreas
COSM1355794	c.1546delC	p.R516fs*43	Deletion - Frameshift	Large_intestine
COSM22571	c.?	p.E392*	Substitution - Nonsense	Pancreas
COSM22640	c.354_356delGAA	p.K119del	Deletion - In frame	Gastrointestinal_tract_(site_indeterminate)
COSM3724541	c.131_132insT	p.E45fs*72	Insertion - Frameshift	Lung
COSM5609363	c.1806C>T	p.F602F	Substitution - coding silent	Skin
COSM1577229	c.539A>T	p.D180V	Substitution - Missense	Parathyroid
COSM6014485	c.1710C>G	p.I570M	Substitution - Missense	Skin
COSM22598	c.912+2T>A	p.?	Unknown	Parathyroid
COSM4035254	c.1252G>T	p.D418Y	Substitution - Missense	Stomach
COSM5035339	c.994C>T	p.R332C	Substitution - Missense	Oesophagus
COSM94695	c.253A>G	p.I85V	Substitution - Missense	Lung
COSM3718424	c.1025C>T	p.A342V	Substitution - Missense	Upper_aerodigestive_tract
COSM930221	c.357G>A	p.K119K	Substitution - coding silent	Endometrium
COSM255137	c.804_824del21	p.Y268_R275>*	Complex - deletion inframe	Parathyroid
COSM22597	c.1704delC	p.K569fs*19	Deletion - Frameshift	Parathyroid
COSM3791780	c.669G>A	p.L223L	Substitution - coding silent	Urinary_tract
COSM23153	c.?	p.Q166*	Substitution - Nonsense	Parathyroid
COSM4387292	c.134A>T	p.E45V	Substitution - Missense	Lung
COSM1604980	c.655-1G>A	p.?	Unknown	Liver
COSM23014	c.1657delT	p.F553fs*6	Deletion - Frameshift	Parathyroid
COSM1735135	c.248delT	p.L83fs*36	Deletion - Frameshift	Pancreas
COSM22638	c.124G>A	p.G42S	Substitution - Missense	Gastrointestinal_tract_(site_indeterminate)
COSM23051	c.1546_1547insC	p.R516fs*15	Insertion - Frameshift	Large_intestine
COSM22591	c.342delC	p.R115fs*4	Deletion - Frameshift	Parathyroid
COSM22650	c.1702_1706delACCAA	p.T568fs*27	Deletion - Frameshift	Parathyroid
COSM255151	c.1-20_51del71	p.?	Unknown	Parathyroid
COSM5716562	c.897C>T	p.L299L	Substitution - coding silent	Skin
COSM22593	c.483_484GG>TT	p.V162F	Substitution - Missense	Parathyroid
COSM4428395	c.139T>A	p.F47I	Substitution - Missense	Oesophagus
COSM3451580	c.1830C>A	p.L610L	Substitution - coding silent	Skin
COSM85832	c.330_346del17	p.G111fs*63	Deletion - Frameshift	Pancreas
COSM85845	c.1038_1038delT	p.V347fs*21	Deletion - Frameshift	Pancreas
COSM4772376	c.1546C>T	p.R516W	Substitution - Missense	Stomach
COSM255099	c.63_176del114	p.L22_P59del	Deletion - In frame	Parathyroid
COSM4978984	c.723T>C	p.C241C	Substitution - coding silent	Oesophagus
COSM5078787	c.320C>G	p.P107R	Substitution - Missense	Large_intestine
COSM4767405	c.?_?del?	p.P493fs*?	Deletion - Frameshift	Thyroid
COSM23054	c.512G>A	p.R171Q	Substitution - Missense	Soft_tissue
COSM342657	c.1720G>T	p.A574S	Substitution - Missense	Lung
COSM23056	c.1033delG	p.A345fs*23	Deletion - Frameshift	Small_intestine
COSM23047	c.163_173del11	p.P55fs*58	Deletion - Frameshift	Parathyroid
COSM4135697	c.135G>C	p.E45D	Substitution - Missense	Pancreas
COSM23159	c.1413G>A	p.W471*	Substitution - Nonsense	Central_nervous_system
COSM5716562	c.897C>T	p.L299L	Substitution - coding silent	Skin
COSM23061	c.437delT	p.F146fs*39	Deletion - Frameshift	Parathyroid
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM22613	c.37_97del61	p.L13fs*86	Deletion - Frameshift	Pancreas
COSM3398026	c.1256G>A	p.G419D	Substitution - Missense	Central_nervous_system
COSM23045	c.8_42>GGCCT	p.L3_R14>RP	Complex - deletion inframe	Parathyroid
COSM22651	c.824+1G>A	p.?	Unknown	Parathyroid
COSM3383714	c.851C>A	p.A284E	Substitution - Missense	Pancreas
COSM4633387	c.1283C>T	p.P428L	Substitution - Missense	Large_intestine
COSM4963776	c.1050-1G>A	p.?	Unknown	Pancreas
COSM25824	c.168_171delCAAC	p.N57fs*61	Deletion - Frameshift	Parathyroid
COSM85844	c.377_377delG	p.W126fs*1	Deletion - Frameshift	Pancreas
COSM211760	c.397_398insT	p.Y133fs*47	Insertion - Frameshift	Parathyroid
COSM1355794	c.1546delC	p.R516fs*43	Deletion - Frameshift	Large_intestine
COSM1237085	c.703G>A	p.E235K	Substitution - Missense	Parathyroid
COSM1355794	c.1546delC	p.R516fs*43	Deletion - Frameshift	Large_intestine
COSM22582	c.434_435insT	p.F146fs*34	Insertion - Frameshift	Pancreas
COSM23012	c.341_376>TC	p.S114fs*60	Complex - frameshift	Parathyroid
COSM85829	c.65T>G	p.L22R	Substitution - Missense	Pancreas
COSM255097	c.272_275delCCCG	p.R92fs*26	Deletion - Frameshift	Parathyroid
COSM4787851	c.476T>C	p.F159S	Substitution - Missense	Liver
COSM1298394	c.387C>T	p.L129L	Substitution - coding silent	Urinary_tract
COSM22657	c.?	p.K119del	Deletion - In frame	Parathyroid
COSM22626	c.?	p.L37P	Substitution - Missense	Pancreas
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM23026	c.1351-4C>T	p.?	Unknown	Adrenal_gland
COSM23400	c.?	p.V121D	Substitution - Missense	Parathyroid
COSM1704225	c.640G>A	p.G214S	Substitution - Missense	Skin
COSM22595	c.850G>C	p.A284P	Substitution - Missense	Parathyroid
COSM4169844	c.?	p.V58fs*60	Unknown	Adrenal_gland
COSM1127690	c.1355G>A	p.R452Q	Substitution - Missense	Prostate
COSM6014486	c.1460C>T	p.S487F	Substitution - Missense	Skin
COSM5809410	c.154C>G	p.R52G	Substitution - Missense	Liver
COSM2164488	c.686G>A	p.R229H	Substitution - Missense	Large_intestine
COSM4035256	c.781C>T	p.Q261*	Substitution - Nonsense	Stomach
COSM23401	c.?	p.W183G	Substitution - Missense	Pancreas
COSM1188290	c.1508G>A	p.G503D	Substitution - Missense	Lung
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM1645281	c.484G>T	p.V162F	Substitution - Missense	Large_intestine
COSM3980533	c.984C>T	p.H328H	Substitution - coding silent	Ovary
COSM23005	c.?	p.Q584*	Substitution - Nonsense	Parathyroid
COSM4609661	c.1795_1796delAC	p.T599fs*>12	Deletion - Frameshift	Adrenal_gland
COSM930214	c.1820G>A	p.R607H	Substitution - Missense	Endometrium
COSM1659156	c.496C>T	p.Q166*	Substitution - Nonsense	Breast
COSM22577	c.247_250delCTGT	p.I85fs*33	Deletion - Frameshift	Stomach
COSM4701741	c.1510C>A	p.L504M	Substitution - Missense	Large_intestine
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM930215	c.1264A>G	p.K422E	Substitution - Missense	Endometrium
COSM23043	c.?	p.E358*	Substitution - Nonsense	Parathyroid
COSM22628	c.?	p.V53I	Substitution - Missense	Small_intestine
COSM23020	c.1324C>T	p.Q442*	Substitution - Nonsense	Parathyroid
COSM23037	c.?	p.R98*	Substitution - Nonsense	Parathyroid
COSM23398	c.249_252delGTCT	p.I85fs*33	Deletion - Frameshift	Lung
COSM211758	c.1125_1128delGCTG	p.L376fs*68	Deletion - Frameshift	Parathyroid
COSM22580	c.373_374delAT	p.I125fs*54	Deletion - Frameshift	Pancreas
COSM1604979	c.678A>G	p.S226S	Substitution - coding silent	Liver
COSM23006	c.467_468insT	p.V157fs*23	Insertion - Frameshift	Parathyroid
COSM930219	c.598G>A	p.G200S	Substitution - Missense	Endometrium
COSM5683022	c.1209C>T	p.A403A	Substitution - coding silent	Soft_tissue
COSM85855	c.784-2A>G	p.?	Unknown	Pancreas
COSM5716562	c.897C>T	p.L299L	Substitution - coding silent	Skin
COSM23153	c.?	p.Q166*	Substitution - Nonsense	Parathyroid
COSM255108	c.185_186insT	p.F63fs*54	Insertion - Frameshift	Parathyroid
COSM255131	c.628_631delACAG	p.T210fs*13	Deletion - Frameshift	Thyroid
COSM255136	c.784_804del21	p.K262_Y268del	Deletion - In frame	Parathyroid
COSM22629	c.?_?ins?	p.?fs	Insertion - Frameshift	Lung
COSM23044	c.?	p.S543*	Substitution - Nonsense	Parathyroid
COSM1509530	c.479C>A	p.A160D	Substitution - Missense	Parathyroid
COSM930222	c.328G>T	p.G110W	Substitution - Missense	Endometrium
COSM1509531	c.553G>T	p.V185L	Substitution - Missense	Large_intestine
COSM930220	c.461G>A	p.S154N	Substitution - Missense	Endometrium
COSM22658	c.588_589insA	p.T197fs*21	Insertion - Frameshift	Parathyroid
COSM85848	c.960_960delC	p.Y321fs*47	Deletion - Frameshift	Pancreas
COSM255144	c.1245_1245delA	p.F416fs*29	Deletion - Frameshift	Parathyroid
COSM4035253	c.1410G>A	p.P470P	Substitution - coding silent	Stomach
COSM1577228	c.527_539del13	p.A176fs*5	Deletion - Frameshift	Parathyroid
COSM255102	c.?	p.E30*	Substitution - Nonsense	Parathyroid
COSM23016	c.?	p.W341*	Substitution - Nonsense	Parathyroid
COSM22623	c.1050-2A>G	p.?	Unknown	Pituitary
COSM22594	c.758C>T	p.S253L	Substitution - Missense	Prostate
COSM1561683	c.125G>A	p.G42D	Substitution - Missense	Adrenal_gland
COSM1738267	c.1045C>G	p.Q349E	Substitution - Missense	Ovary
COSM23057	c.?	p.H433P	Substitution - Missense	Small_intestine
COSM43351	c.207_207delC	p.D70fs*49	Deletion - Frameshift	Parathyroid
COSM1577231	c.617_624delGCAGGGGC	p.R206fs*9	Deletion - Frameshift	Parathyroid
COSM23038	c.?	p.R108*	Substitution - Nonsense	Parathyroid
COSM23398	c.249_252delGTCT	p.I85fs*33	Deletion - Frameshift	Pancreas
COSM22601	c.802_803delTA	p.Y268fs*1	Deletion - Frameshift	Parathyroid
COSM1355794	c.1546delC	p.R516fs*43	Deletion - Frameshift	Large_intestine
COSM1577240	c.?_?del?	p.?	Unknown	Parathyroid
COSM2164488	c.686G>A	p.R229H	Substitution - Missense	Large_intestine
COSM23027	c.268delT	p.Y90fs*29	Deletion - Frameshift	Pituitary
COSM22581	c.376T>G	p.W126G	Substitution - Missense	Pancreas
COSM5795354	c.800T>G	p.L267R	Substitution - Missense	Breast
COSM22576	c.654+3A>G	p.?	Unknown	Lung
COSM2164481	c.939T>A	p.Y313*	Substitution - Nonsense	Prostate
COSM23037	c.?	p.R98*	Substitution - Nonsense	Parathyroid
COSM255130	c.550_550delG	p.V184fs*1	Deletion - Frameshift	Parathyroid
COSM1577233	c.936C>G	p.Y312*	Substitution - Nonsense	Lung
COSM255112	c.230_230delA	p.Y77fs*42	Deletion - Frameshift	Parathyroid
COSM4135693	c.1241T>C	p.L414P	Substitution - Missense	Pancreas
COSM22575	c.1539_1540insC	p.R516fs*15	Insertion - Frameshift	Parathyroid
COSM85831	c.547T>C	p.W183R	Substitution - Missense	Pancreas
COSM1257619	c.871C>T	p.P291S	Substitution - Missense	Stomach
COSM22604	c.1177C>T	p.Q393*	Substitution - Nonsense	Thymus
COSM25822	c.631G>T	p.V211F	Substitution - Missense	Parathyroid
COSM4645064	c.1439G>A	p.R480Q	Substitution - Missense	Large_intestine
COSM85851	c.561_561delG	p.N189fs*35	Deletion - Frameshift	Pancreas
COSM1577224	c.415C>T	p.H139Y	Substitution - Missense	Parathyroid
COSM22570	c.266T>G	p.L89R	Substitution - Missense	Lung
COSM2164481	c.939T>A	p.Y313*	Substitution - Nonsense	Prostate
COSM4574633	c.868G>C	p.E290Q	Substitution - Missense	Bone
COSM544448	c.1064G>T	p.R355L	Substitution - Missense	Skin
COSM23058	c.?	p.E473*	Substitution - Nonsense	Gastrointestinal_tract_(site_indeterminate)
COSM22588	c.1505A>T	p.K502M	Substitution - Missense	Pituitary
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM42092	c.237_237delC	p.V80fs*39	Deletion - Frameshift	Pituitary
COSM1628156	c.972G>A	p.L324L	Substitution - coding silent	Liver
COSM255163	c.?	p.?	Unknown	Parathyroid
COSM689656	c.1310C>A	p.A437D	Substitution - Missense	Lung
COSM3752612	c.1254C>T	p.D418D	Substitution - coding silent	Liver
COSM3398028	c.465C>T	p.S155S	Substitution - coding silent	Central_nervous_system
COSM22621	c.218_228>CCT	p.G73fs*41	Complex - frameshift	Pancreas
COSM85847	c.548G>A	p.W183*	Substitution - Nonsense	Skin
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM1168055	c.115_163del49	p.V40fs*63	Deletion - Frameshift	Parathyroid
COSM85838	c.203_203delC	p.D70fs*49	Deletion - Frameshift	Pancreas
COSM5970278	c.162C>T	p.I54I	Substitution - coding silent	Upper_aerodigestive_tract
COSM312833	c.1287G>A	p.T429T	Substitution - coding silent	Lung
COSM3451581	c.1270G>T	p.E424*	Substitution - Nonsense	Skin
COSM255124	c.?	p.V161F	Substitution - Missense	Parathyroid
COSM22620	c.989G>C	p.R330P	Substitution - Missense	Pancreas
COSM22600	c.1606C>T	p.Q536*	Substitution - Nonsense	Parathyroid
COSM22608	c.292C>T	p.R98*	Substitution - Nonsense	Parathyroid
COSM48559	c.884G>T	p.R295L	Substitution - Missense	Lung
COSM23017	c.398_430del33	p.Y133_L143del	Deletion - In frame	Parathyroid
COSM4387034	c.654+1G>A	p.?	Unknown	Lung
COSM23398	c.249_252delGTCT	p.I85fs*33	Deletion - Frameshift	Pancreas
COSM5825379	c.535G>T	p.E179*	Substitution - Nonsense	Pancreas
COSM22630	c.?_?del?	p.?fs	Deletion - Frameshift	Pancreas
COSM23013	c.754_761delGACTCGCT	p.D252fs*15	Deletion - Frameshift	Parathyroid
COSM30752	c.734delC	p.P245fs*36	Deletion - Frameshift	Pancreas
COSM22646	c.322C>T	p.R108*	Substitution - Nonsense	Parathyroid
COSM22608	c.292C>T	p.R98*	Substitution - Nonsense	Gastrointestinal_tract_(site_indeterminate)
COSM255131	c.628_631delACAG	p.T210fs*13	Deletion - Frameshift	Parathyroid
COSM930223	c.287A>C	p.Q96P	Substitution - Missense	Endometrium
COSM255112	c.230_230delA	p.Y77fs*42	Deletion - Frameshift	Parathyroid
COSM4832084	c.432C>T	p.F144F	Substitution - coding silent	Cervix
COSM5051003	c.1011C>T	p.A337A	Substitution - coding silent	Stomach
COSM255214	c.427_427delC	p.L143fs*42	Deletion - Frameshift	Lung
COSM255216	c.?	p.G99S	Substitution - Missense	Lung
COSM255112	c.230_230delA	p.Y77fs*42	Deletion - Frameshift	Parathyroid
COSM23004	c.?	p.E378V	Substitution - Missense	Parathyroid
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue
COSM255097	c.272_275delCCCG	p.R92fs*26	Deletion - Frameshift	Parathyroid
COSM23008	c.194_219del26	p.P65fs*43	Deletion - Frameshift	Parathyroid
COSM3752612	c.1254C>T	p.D418D	Substitution - coding silent	Large_intestine
COSM4806006	c.22A>T	p.K8*	Substitution - Nonsense	Liver
COSM119968	c.1073A>G	p.E358G	Substitution - Missense	Ovary
COSM23010	c.221delG	p.G74fs*45	Deletion - Frameshift	Parathyroid
COSM689655	c.1222G>C	p.E408Q	Substitution - Missense	Lung
COSM85856	c.654+1G>T	p.?	Unknown	Pancreas
COSM5020099	c.435C>T	p.S145S	Substitution - coding silent	Soft_tissue
COSM22660	c.212_218delCGCCTGG	p.P72fs*45	Deletion - Frameshift	Pancreas
COSM1659156	c.496C>T	p.Q166*	Substitution - Nonsense	Pancreas
COSM5795354	c.800T>G	p.L267R	Substitution - Missense	Breast
COSM23021	c.1327T>C	p.S443P	Substitution - Missense	Parathyroid
COSM255118	c.343_356del14	p.R115fs*60	Deletion - Frameshift	Parathyroid
COSM4445248	c.1132G>T	p.E378*	Substitution - Nonsense	Adrenal_gland
COSM22589	c.1230C>A	p.F410L	Substitution - Missense	Pituitary
COSM1577226	c.150_151insC	p.N51fs*66	Insertion - Frameshift	Parathyroid
COSM930224	c.262G>A	p.A88T	Substitution - Missense	Endometrium
COSM2164488	c.686G>A	p.R229H	Substitution - Missense	Large_intestine
COSM23055	c.378G>A	p.W126*	Substitution - Nonsense	Breast
COSM255097	c.272_275delCCCG	p.R92fs*26	Deletion - Frameshift	Parathyroid
COSM85853	c.491C>T	p.A164V	Substitution - Missense	Pancreas
COSM23153	c.?	p.Q166*	Substitution - Nonsense	Parathyroid
COSM5025104	c.655-5delC	p.?	Unknown	Biliary_tract
COSM930217	c.695G>A	p.R232H	Substitution - Missense	Endometrium
COSM4408901	c.1659C>G	p.F553L	Substitution - Missense	Oesophagus
COSM23398	c.249_252delGTCT	p.I85fs*33	Deletion - Frameshift	Lung
COSM23402	c.39delG	p.R14fs*105	Deletion - Frameshift	Parathyroid
COSM4169855	c.?	p.R516fs*43	Unknown	Adrenal_gland
COSM1676160	c.914G>A	p.G305D	Substitution - Missense	Lung
COSM255147	c.?	p.S512*	Substitution - Nonsense	Parathyroid
COSM22585	c.1102_1108delGCCAATG	p.A368fs*7	Deletion - Frameshift	Small_intestine
COSM23403	c.51delC	p.D17fs*102	Deletion - Frameshift	Soft_tissue
COSM23014	c.1657delT	p.F553fs*6	Deletion - Frameshift	Parathyroid
COSM85841	c.156_156delC	p.V53fs*66	Deletion - Frameshift	Pancreas
COSM85836	c.1628C>A	p.S543*	Substitution - Nonsense	Pancreas
COSM3687502	c.774G>C	p.Q258H	Substitution - Missense	Large_intestine
COSM4550924	c.498G>A	p.Q166Q	Substitution - coding silent	Skin
COSM4963751	c.912+1G>T	p.?	Unknown	Pancreas
COSM23398	c.249_252delGTCT	p.I85fs*33	Deletion - Frameshift	Breast
COSM22615	c.412delG	p.A138fs*47	Deletion - Frameshift	Pancreas
COSM4787851	c.476T>C	p.F159S	Substitution - Missense	Liver
COSM255133	c.751_751delA	p.T251fs*30	Deletion - Frameshift	Parathyroid
COSM255123	c.?	p.G156V	Substitution - Missense	Parathyroid
COSM4632006	c.1300G>A	p.V434M	Substitution - Missense	Large_intestine
COSM2164488	c.686G>A	p.R229H	Substitution - Missense	Large_intestine
COSM22653	c.135G>T	p.E45D	Substitution - Missense	Parathyroid
COSM255115	c.288_308del21	p.I97_L103del	Deletion - In frame	Parathyroid
COSM255105	c.?	p.E45V	Substitution - Missense	Parathyroid
COSM22643	c.1074_1075GG>AA	p.E359K	Substitution - Missense	Soft_tissue
COSM23056	c.1033delG	p.A345fs*23	Deletion - Frameshift	Pancreas
COSM4805895	c.1023G>A	p.W341*	Substitution - Nonsense	Liver
COSM255213	c.1621A>G	p.T541A	Substitution - Missense	Soft_tissue

> Text Mining based Variations

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PMID	Variation	Cancer	Evidence
26424307	Mutation	Multiple Endocrine Neoplasia Type 1	Genetic testing revealed a novel missense mutation at codon 561 in exon 10, resulting in an amino acid substitution from methionine to arginine (M561R) in the MEN1 gene.
25350067	Mutation	Multiple Endocrine Neoplasia Type 1	Germline mutations in MEN1 (encoding menin) result in multiple endocrine neoplasia type 1 and are found in very young patients with isolated sporadic pituitary adenomas, which highlights the importance of the chromosome 11q13 locus in pituitary tumorigenesis.
25210877	Mutation	Pancreatic Neuroendocrine Tumour	MEN1 patients with MEN1 mutations leading to CHES1-LOI have a higher risk of malignant pNENs with an aggressive course of disease and disease-related death.
24276465	Mutation; Underexpression	Lung Neuroendocrine Neuroplasms	MEN1 mutations were found in 7 of 55 (13%) carcinoids and in 1 HGNEC, mostly associated with loss of the second allele. MEN1 decreased expression levels correlated with the presence of mutations (P = .0060) and was also lower in HGNECs than carcinoids (P = .0024). Patients with carcinoids harboring MEN1 mutation and loss had shorter overall survival (P = .039 and P = .035, respectively) and low MEN1 mRNA levels correlated with distant metastasis (P = .00010) and shorter survival (P = .0071).
22207168	Mutation	Parathyroid Carcinoma	Genetic analysis revealed a novel germline mutation in the MEN1 gene - a nucleotide insertion at codon 43 in exon 2 (c.129insA), which caused the occurrence of the MEN1 syndrome.
22026581	Mutation	Multiple Endocrine Neoplasia Type 1	A total of 79 different sporadic and familial cases with the MEN1 phenotype have been studied, in which 34 of them (48%) present a mutation in MEN1 gene.
21950691	Mutation	Multiple Endocrine Neoplasia Type 1	The MEN1 mutation positive rate was 91·7% in familial cases and only 49·3% in sporadic cases. Eight novel mutations were identified.
21627674	Mutation	Multiple Endocrine Neoplasia Type 1	LOH analysis indicated somatic deletion of maternal chromosome 11, including MEN1 locus (11q13) and 11p15 imprinting control regions (ICR). Although large MEN1 deletion causes MEN1, disruption of imprinted CDKN1C/p57KIP2 and IGF-2 gene expression may contribute to tumour progression and aggressive phenotype.
21464564	Mutation	Multiple Endocrine Neoplasia Type 1	Menin gene sequencing revealed a novel frameshift mutation c.1642_1648dup in exon 10.
21454242	Mutation	Multiple Endocrine Neoplasia Type 1	We report a novel disease-causing germline missense mutation in exon 2 of the MEN1 gene in a patient with MEN 1. The Arg52Gly mutation replaces the normal arginine residue (CGC) with a glycine residue (GGC) at position 52 of the resultant menin protein.
21069576	Mutation	Multiple Endocrine Neoplasia Type 1	We describe a new mutation at codon 443 in the coding region of exon 9 in the MEN1 gene, where a cytosine residue was exchanged for adenosine (TCC > TAC) and, consequently, serine for tyrosine (p.Ser443Tyr; c.1328C > A).
20367983	Mutation	Multiple Endocrine Neoplasia Type 1	In this family, a heterozygous cytosine insertion in exon 10 (c.1546_1547insC) inducing a frame shift mutation of MEN1 was found in the proband and the other two suffering members of his family. The mutation in exon 10 of MEN1 gene might induce development of parathyroid hyperplasia and pituitary adenoma and cosegregate with MEN1 syndrome.
28701629	Mutation	Pituitary Gland Neoplasm	Genetic analysis revealed that the tumor had homozygous gene mutation of MEN1 associated with pituitary tumorigenesis and mutS homolog 6 (MSH6) gene.
28674121	Mutation	Neuroendocrine Neoplasm	Each of these autosomal dominant syndromes results from a specific germline mutation in unique genes: MEN1 is due to pathogenicMEN1variants (11q13), MEN2A and MEN2B are due to pathogenicRETvariants (10q11.21), MEN4 is due to pathogenicCDKN1Bvariants (12p13.1), and the HPT-JT syndrome is due to pathogenicCDC73variants (1q25).
28503312	Mutation	Pancreatic Neoplasm; duodenal Neoplasm	In the present study, using whole-exome sequencing, we analyzed germline and somatic genetic changes in blood cells, two pancreatic endocrine tumors and one duodenal tumor obtained from a patient with MEN1 gastrinoma. We found that this patient possessed a novel germline mutation of theMEN1gene [NM_137099.2:c.1505dupA (p.Lys502Lysfs); the localization was Chr11:64572134 on Assembly GRCh37], in which an adenine insertion in codon 502 of theMEN1gene resulted in a frame shift and a premature stop codon.
28329921	Mutation	Neuroendocrine Neoplasm	Here, we report a case of MEN1 with neuroendocrine tumors (NETs) in the stomach, duodenum, and pancreas. Genetic testing was performed, and a heterozygous mutation was detected in the MEN1 gene, which is located on 11q13.
28220018	Mutation	Pituitary Gland Adenoma	Eleven patients (25%) had a rare variant across the eight FPTS genes tested:AIP(p.A299V, p.R106C, p.F269F, p.R304X, p.K156K, p.R271W),MEN1(p.R176Q),SDHB(p.A2V, p.S8S),SDHC(p.E110Q) andSDHD(p.G12S), with two patients harbouring dual variants.
28199314	Mutation	Pancreatic Neuroendocrine Tumor	Clinically sporadic PanNETs contain a larger-than-expected proportion of germline mutations, including previously unreported mutations in the DNA repair genes MUTYH, CHEK2 and BRCA2. Together with mutations in MEN1 and VHL, these mutations occur in 17% of patients.
28179320	Mutation	Neuroendocrine Neoplasm	A total of 494 genetic variants were discovered, four of which were identified as pathogenic. All pathogenic variants were validated using Sanger sequencing and were found exclusively in menin 1 (MEN1) and death domain associated protein (DAXX) genes.
28130400	Mutation	Gastrointestinal Stromal Tumor	The mostrelevantsomaticoncogenicmutationsidentifiedwere inTP53,MEN1,MAX,FGF1R,CHD4, and CTDNN2.
27913610	Mutation	Neuroendocrine Neoplasm	Somatic mutations of three potential tumor-related genes (HRAS, PAK1 and MEN1) might contribute to the tumorigenesis of thymic neuroendocrine tumors with EAS.
27071708	Mutation	Parathyroid Adenoma	Recurrent mutations in the MEN1 gene have been confirmed by the whole-exome sequencing in 35% of PAs, suggesting that non-protein-coding genes, regulatory elements or epigenetic derangements may also have roles in the majority of PAs.

Summary
Symbol	MEN1
Name	menin 1
Aliases	menin; MEAI
Location	11q13
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Post-translational modification (PTM)

> Post-translational modification (PTM)

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Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
O00255	548	S	Phosphoserine	-	No	None detected
O00255	599	T	Phosphothreonine	-	No	None detected

Summary
Symbol	MEN1
Name	menin 1
Aliases	menin; MEAI
Location	11q13
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Expression analysis in primary tumor tissue from TCGA > Expression level in cancer cell line from CCLE > Expression level in human normal tissue from HPA > Text mining based expression change

> The Cancer Genome Atlas (TCGA)

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Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	4.839	6.006	1.315	4.41e-25	Over
BRCA	Breast invasive carcinoma	112	1100	4.923	5.73	0.782	3.29e-48	Over
CESC	Cervical and endocervical cancers	3	306	4.922	5.615	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	5.206	5.695	0.516	1.94e-12	NS
ESCA	Esophageal carcinoma	11	185	5.313	5.75	0.675	0.00041	Over
GBM	Glioblastoma multiforme	5	166	5.526	5.726	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	5.149	5.471	0.46	1.3e-09	NS
KIRC	Kidney renal clear cell carcinoma	72	534	4.986	5.088	0.124	0.00724	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	5.241	5.648	0.398	9.87e-11	NS
LAML	Acute Myeloid Leukemia	0	173	NA	5.871	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	5.51	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	4.753	5.099	0.337	2.72e-06	NS
LUAD	Lung adenocarcinoma	59	517	4.841	5.505	0.74	2.11e-24	Over
LUSC	Lung squamous cell carcinoma	51	501	4.862	5.713	0.9	5.43e-31	Over
OV	Ovarian serous cystadenocarcinoma	0	307	NA	6.427	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	5.169	5.207	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	5.632	4.893	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	5.344	5.844	0.588	4.79e-22	Over
READ	Rectum adenocarcinoma	10	167	4.848	5.717	0.925	6.95e-08	Over
SARC	Sarcoma	2	263	4.611	5.448	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	5.515	5.763	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	5.336	5.598	0.541	2.58e-06	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	5.907	NA	NA	NA
THCA	Thyroid carcinoma	59	509	5.514	5.554	0.049	0.244	NS
THYM	Thymoma	2	120	6.057	6.396	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	5.504	6.106	0.717	5.05e-20	Over

> Cancer Cell Line Encyclopedia (CCLE)

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Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	8.9
Autonomic ganglia	CHP212	8.6
Autonomic ganglia	IMR32	9
Autonomic ganglia	KELLY	8.2
Autonomic ganglia	KPNRTBM1	8.9
Autonomic ganglia	KPNSI9S	8.3
Autonomic ganglia	KPNYN	8.2
Autonomic ganglia	MHHNB11	8.5
Autonomic ganglia	NB1	8.3
Autonomic ganglia	NH6	8.6
Autonomic ganglia	SHSY5Y	9.1
Autonomic ganglia	SIMA	8.2
Autonomic ganglia	SKNAS	9.3
Autonomic ganglia	SKNBE2	8.7
Autonomic ganglia	SKNDZ	8.9
Autonomic ganglia	SKNFI	9.3
Autonomic ganglia	SKNSH	8.5
Biliary tract	HUCCT1	8.8
Biliary tract	HUH28	6.9
Biliary tract	SNU1079	7.2
Biliary tract	SNU1196	8.9
Biliary tract	SNU245	8.2
Biliary tract	SNU308	8.2
Biliary tract	SNU478	9.1
Bone	143B	8.6
Bone	A673	9.1
Bone	CADOES1	8.4
Bone	CAL78	8
Bone	G292CLONEA141B1	9.2
Bone	HOS	8.6
Bone	HS706T	8
Bone	HS737T	8.2
Bone	HS819T	7.8
Bone	HS821T	7.5
Bone	HS822T	7.9
Bone	HS863T	7.7
Bone	HS870T	7.8
Bone	HS888T	8.3
Bone	MG63	8.6
Bone	MHHES1	8.7
Bone	OUMS27	8.3
Bone	RDES	9.9
Bone	SJSA1	8.6
Bone	SKES1	8.7
Bone	SKNMC	9.1
Bone	SW1353	8.4
Bone	T173	8.2
Bone	TC71	9
Bone	U2OS	8.9
Breast	AU565	9.4
Breast	BT20	8
Breast	BT474	9.5
Breast	BT483	8.3
Breast	BT549	8
Breast	CAL120	8.5
Breast	CAL148	9.9
Breast	CAL51	8.3
Breast	CAL851	8.3
Breast	CAMA1	7.6
Breast	DU4475	8.5
Breast	EFM192A	8.7
Breast	EFM19	9
Breast	EVSAT	9.4
Breast	HCC1143	8.5
Breast	HCC1187	9.8
Breast	HCC1395	8.8
Breast	HCC1419	8.8
Breast	HCC1428	8.5
Breast	HCC1500	8.6
Breast	HCC1569	9
Breast	HCC1599	8.3
Breast	HCC1806	8.3
Breast	HCC1937	8.7
Breast	HCC1954	8.3
Breast	HCC202	9.3
Breast	HCC2157	9.7
Breast	HCC2218	8.9
Breast	HCC38	8.5
Breast	HCC70	7.7
Breast	HDQP1	7.7
Breast	HMC18	9.3
Breast	HS274T	7.7
Breast	HS281T	7.8
Breast	HS343T	7.9
Breast	HS578T	7.8
Breast	HS606T	8
Breast	HS739T	7.8
Breast	HS742T	7.7
Breast	JIMT1	8.6
Breast	KPL1	9
Breast	MCF7	8.8
Breast	MDAMB134VI	7.2
Breast	MDAMB157	8.3
Breast	MDAMB175VII	5.9
Breast	MDAMB231	8.8
Breast	MDAMB361	8.4
Breast	MDAMB415	8.3
Breast	MDAMB436	8.7
Breast	MDAMB453	8.8
Breast	MDAMB468	8.6
Breast	SKBR3	9
Breast	T47D	9.4
Breast	UACC812	9.4
Breast	UACC893	8.8
Breast	YMB1	7.1
Breast	ZR751	6.5
Breast	ZR7530	8.8
Central nervous system	1321N1	8.7
Central nervous system	42MGBA	8.4
Central nervous system	8MGBA	8.9
Central nervous system	A172	8
Central nervous system	AM38	9
Central nervous system	BECKER	8.5
Central nervous system	CAS1	8.5
Central nervous system	CCFSTTG1	8.2
Central nervous system	D283MED	9.2
Central nervous system	D341MED	8.6
Central nervous system	DAOY	8.3
Central nervous system	DBTRG05MG	8.6
Central nervous system	DKMG	7.5
Central nervous system	GAMG	8.3
Central nervous system	GB1	8.9
Central nervous system	GI1	9.1
Central nervous system	GMS10	8
Central nervous system	GOS3	8.9
Central nervous system	H4	8.8
Central nervous system	HS683	8.5
Central nervous system	KALS1	7.4
Central nervous system	KG1C	8.1
Central nervous system	KNS42	8.9
Central nervous system	KNS60	8.1
Central nervous system	KNS81	8
Central nervous system	KS1	8.1
Central nervous system	LN18	9.3
Central nervous system	LN229	8.9
Central nervous system	M059K	7.8
Central nervous system	MOGGCCM	8.2
Central nervous system	MOGGUVW	8.2
Central nervous system	NMCG1	8.5
Central nervous system	ONS76	9
Central nervous system	SF126	8.3
Central nervous system	SF295	8.6
Central nervous system	SNB19	8
Central nervous system	SNU1105	8
Central nervous system	SNU201	8.2
Central nervous system	SNU466	8
Central nervous system	SNU489	9.3
Central nervous system	SNU626	7.9
Central nervous system	SNU738	8.3
Central nervous system	SW1088	8.5
Central nervous system	SW1783	8.4
Central nervous system	T98G	8.9
Central nervous system	TM31	9.4
Central nervous system	U118MG	9.3
Central nervous system	U138MG	8.6
Central nervous system	U251MG	8.6
Central nervous system	U87MG	8.8
Central nervous system	YH13	8.6
Central nervous system	YKG1	7.9
Endometrium	AN3CA	9.6
Endometrium	COLO684	9.8
Endometrium	EFE184	8.2
Endometrium	EN	9.1
Endometrium	ESS1	8
Endometrium	HEC108	8.6
Endometrium	HEC151	8.7
Endometrium	HEC1A	8.2
Endometrium	HEC1B	8.9
Endometrium	HEC251	8.2
Endometrium	HEC265	8.5
Endometrium	HEC50B	8.5
Endometrium	HEC59	8.6
Endometrium	HEC6	9
Endometrium	ISHIKAWAHERAKLIO02ER	8.9
Endometrium	JHUEM1	9
Endometrium	JHUEM2	8.7
Endometrium	JHUEM3	7.8
Endometrium	KLE	8.1
Endometrium	MFE280	8.8
Endometrium	MFE296	9.4
Endometrium	MFE319	9.1
Endometrium	RL952	9.1
Endometrium	SNGM	8.9
Endometrium	SNU1077	9.8
Endometrium	SNU685	9.9
Endometrium	TEN	9.1
Haematopoietic and lymphoid	697	8.7
Haematopoietic and lymphoid	A3KAW	8.6
Haematopoietic and lymphoid	A4FUK	8.8
Haematopoietic and lymphoid	ALLSIL	9.1
Haematopoietic and lymphoid	AML193	8.8
Haematopoietic and lymphoid	AMO1	8.3
Haematopoietic and lymphoid	BCP1	8.2
Haematopoietic and lymphoid	BDCM	8.3
Haematopoietic and lymphoid	BL41	9.3
Haematopoietic and lymphoid	BL70	9.6
Haematopoietic and lymphoid	BV173	7.8
Haematopoietic and lymphoid	CA46	9.5
Haematopoietic and lymphoid	CI1	9.4
Haematopoietic and lymphoid	CMK115	8.3
Haematopoietic and lymphoid	CMK86	9.3
Haematopoietic and lymphoid	CMK	8.2
Haematopoietic and lymphoid	CMLT1	9.2
Haematopoietic and lymphoid	COLO775	9.2
Haematopoietic and lymphoid	DAUDI	9
Haematopoietic and lymphoid	DB	10.2
Haematopoietic and lymphoid	DEL	8.2
Haematopoietic and lymphoid	DND41	9.6
Haematopoietic and lymphoid	DOHH2	9.7
Haematopoietic and lymphoid	EB1	8.7
Haematopoietic and lymphoid	EB2	8.7
Haematopoietic and lymphoid	EHEB	8.1
Haematopoietic and lymphoid	EJM	8.8
Haematopoietic and lymphoid	EM2	9.2
Haematopoietic and lymphoid	EOL1	8.8
Haematopoietic and lymphoid	F36P	8.6
Haematopoietic and lymphoid	GA10	9
Haematopoietic and lymphoid	GDM1	9.1
Haematopoietic and lymphoid	GRANTA519	8.5
Haematopoietic and lymphoid	HDLM2	8.5
Haematopoietic and lymphoid	HDMYZ	7.7
Haematopoietic and lymphoid	HEL9217	9.5
Haematopoietic and lymphoid	HEL	8.9
Haematopoietic and lymphoid	HH	8.7
Haematopoietic and lymphoid	HL60	9.4
Haematopoietic and lymphoid	HPBALL	9.4
Haematopoietic and lymphoid	HS604T	7.9
Haematopoietic and lymphoid	HS611T	9
Haematopoietic and lymphoid	HS616T	8.1
Haematopoietic and lymphoid	HS751T	7.3
Haematopoietic and lymphoid	HT	9.6
Haematopoietic and lymphoid	HTK	8.5
Haematopoietic and lymphoid	HUNS1	8.6
Haematopoietic and lymphoid	HUT102	8.4
Haematopoietic and lymphoid	HUT78	9.2
Haematopoietic and lymphoid	JEKO1	10
Haematopoietic and lymphoid	JK1	8.1
Haematopoietic and lymphoid	JM1	9.5
Haematopoietic and lymphoid	JURKAT	9
Haematopoietic and lymphoid	JURLMK1	8.3
Haematopoietic and lymphoid	JVM2	7.7
Haematopoietic and lymphoid	JVM3	8.1
Haematopoietic and lymphoid	K562	8.5
Haematopoietic and lymphoid	KARPAS299	8.3
Haematopoietic and lymphoid	KARPAS422	9.3
Haematopoietic and lymphoid	KARPAS620	8.5
Haematopoietic and lymphoid	KASUMI1	8.3
Haematopoietic and lymphoid	KASUMI2	8.9
Haematopoietic and lymphoid	KASUMI6	9
Haematopoietic and lymphoid	KCL22	7.1
Haematopoietic and lymphoid	KE37	8.6
Haematopoietic and lymphoid	KE97	8
Haematopoietic and lymphoid	KG1	9.6
Haematopoietic and lymphoid	KHM1B	8.8
Haematopoietic and lymphoid	KIJK	8.9
Haematopoietic and lymphoid	KMH2	8.4
Haematopoietic and lymphoid	KMM1	9.3
Haematopoietic and lymphoid	KMS11	8.5
Haematopoietic and lymphoid	KMS12BM	9.5
Haematopoietic and lymphoid	KMS18	8.4
Haematopoietic and lymphoid	KMS20	8
Haematopoietic and lymphoid	KMS21BM	8.6
Haematopoietic and lymphoid	KMS26	7.2
Haematopoietic and lymphoid	KMS27	9.3
Haematopoietic and lymphoid	KMS28BM	9.1
Haematopoietic and lymphoid	KMS34	8.6
Haematopoietic and lymphoid	KO52	8.9
Haematopoietic and lymphoid	KOPN8	9.8
Haematopoietic and lymphoid	KU812	9.6
Haematopoietic and lymphoid	KYO1	9.4
Haematopoietic and lymphoid	L1236	8.1
Haematopoietic and lymphoid	L363	8
Haematopoietic and lymphoid	L428	8.9
Haematopoietic and lymphoid	L540	8.4
Haematopoietic and lymphoid	LAMA84	8.9
Haematopoietic and lymphoid	LOUCY	8.8
Haematopoietic and lymphoid	LP1	8.7
Haematopoietic and lymphoid	M07E	8.7
Haematopoietic and lymphoid	MC116	8.7
Haematopoietic and lymphoid	ME1	9.3
Haematopoietic and lymphoid	MEC1	8
Haematopoietic and lymphoid	MEC2	8.9
Haematopoietic and lymphoid	MEG01	9.6
Haematopoietic and lymphoid	MHHCALL2	8.6
Haematopoietic and lymphoid	MHHCALL3	8.5
Haematopoietic and lymphoid	MHHCALL4	8.9
Haematopoietic and lymphoid	MINO	8.9
Haematopoietic and lymphoid	MJ	9.3
Haematopoietic and lymphoid	MM1S	8.6
Haematopoietic and lymphoid	MOLM13	9.1
Haematopoietic and lymphoid	MOLM16	9.5
Haematopoietic and lymphoid	MOLM6	8.8
Haematopoietic and lymphoid	MOLP2	9.2
Haematopoietic and lymphoid	MOLP8	7.5
Haematopoietic and lymphoid	MOLT13	8.9
Haematopoietic and lymphoid	MOLT16	8.5
Haematopoietic and lymphoid	MOLT4	9.3
Haematopoietic and lymphoid	MONOMAC1	8.6
Haematopoietic and lymphoid	MONOMAC6	8.7
Haematopoietic and lymphoid	MOTN1	9.3
Haematopoietic and lymphoid	MUTZ5	9.3
Haematopoietic and lymphoid	MV411	9.6
Haematopoietic and lymphoid	NALM19	9.2
Haematopoietic and lymphoid	NALM1	9
Haematopoietic and lymphoid	NALM6	9.1
Haematopoietic and lymphoid	NAMALWA	9.6
Haematopoietic and lymphoid	NB4	9.2
Haematopoietic and lymphoid	NCIH929	7.7
Haematopoietic and lymphoid	NCO2	9
Haematopoietic and lymphoid	NOMO1	8.5
Haematopoietic and lymphoid	NUDHL1	9.6
Haematopoietic and lymphoid	NUDUL1	8.8
Haematopoietic and lymphoid	OCIAML2	8.6
Haematopoietic and lymphoid	OCIAML3	9
Haematopoietic and lymphoid	OCIAML5	8.3
Haematopoietic and lymphoid	OCILY10	9.7
Haematopoietic and lymphoid	OCILY19	9.4
Haematopoietic and lymphoid	OCILY3	9.2
Haematopoietic and lymphoid	OCIM1	8.3
Haematopoietic and lymphoid	OPM2	8
Haematopoietic and lymphoid	P12ICHIKAWA	8.7
Haematopoietic and lymphoid	P31FUJ	8.3
Haematopoietic and lymphoid	P3HR1	9.3
Haematopoietic and lymphoid	PCM6	8.8
Haematopoietic and lymphoid	PEER	9
Haematopoietic and lymphoid	PF382	8.7
Haematopoietic and lymphoid	PFEIFFER	9.2
Haematopoietic and lymphoid	PL21	7.9
Haematopoietic and lymphoid	RAJI	9.6
Haematopoietic and lymphoid	RCHACV	8.5
Haematopoietic and lymphoid	REC1	9
Haematopoietic and lymphoid	REH	9.2
Haematopoietic and lymphoid	RI1	9.3
Haematopoietic and lymphoid	RL	9.4
Haematopoietic and lymphoid	RPMI8226	8.9
Haematopoietic and lymphoid	RPMI8402	8.9
Haematopoietic and lymphoid	RS411	8.6
Haematopoietic and lymphoid	SEM	8.1
Haematopoietic and lymphoid	SET2	8.9
Haematopoietic and lymphoid	SIGM5	8.6
Haematopoietic and lymphoid	SKM1	8.7
Haematopoietic and lymphoid	SKMM2	9
Haematopoietic and lymphoid	SR786	8.6
Haematopoietic and lymphoid	ST486	8.7
Haematopoietic and lymphoid	SUDHL10	9.4
Haematopoietic and lymphoid	SUDHL1	7.4
Haematopoietic and lymphoid	SUDHL4	9.8
Haematopoietic and lymphoid	SUDHL5	9
Haematopoietic and lymphoid	SUDHL6	9.9
Haematopoietic and lymphoid	SUDHL8	8.9
Haematopoietic and lymphoid	SUPB15	8.6
Haematopoietic and lymphoid	SUPHD1	9.1
Haematopoietic and lymphoid	SUPM2	8.1
Haematopoietic and lymphoid	SUPT11	9.8
Haematopoietic and lymphoid	SUPT1	9.4
Haematopoietic and lymphoid	TALL1	9.1
Haematopoietic and lymphoid	TF1	8.2
Haematopoietic and lymphoid	THP1	8.8
Haematopoietic and lymphoid	TO175T	8.2
Haematopoietic and lymphoid	TOLEDO	9.2
Haematopoietic and lymphoid	U266B1	8.4
Haematopoietic and lymphoid	U937	8.5
Haematopoietic and lymphoid	UT7	8.8
Haematopoietic and lymphoid	WSUDLCL2	9.4
Kidney	769P	7.8
Kidney	786O	8.3
Kidney	A498	7.8
Kidney	A704	7.2
Kidney	ACHN	8.1
Kidney	BFTC909	7.5
Kidney	CAKI1	8.4
Kidney	CAKI2	7.6
Kidney	CAL54	8.6
Kidney	KMRC1	7.2
Kidney	KMRC20	8.1
Kidney	KMRC2	8.1
Kidney	KMRC3	7.8
Kidney	OSRC2	8
Kidney	RCC10RGB	8.8
Kidney	SNU1272	8.4
Kidney	SNU349	7.9
Kidney	TUHR10TKB	8.7
Kidney	TUHR14TKB	8.7
Kidney	TUHR4TKB	8.2
Kidney	VMRCRCW	8.2
Kidney	VMRCRCZ	7.9
Large intestine	C2BBE1	8.4
Large intestine	CCK81	8.5
Large intestine	CL11	8.8
Large intestine	CL14	9.1
Large intestine	CL34	8.7
Large intestine	CL40	8.5
Large intestine	COLO205	8.1
Large intestine	COLO320	8.8
Large intestine	COLO678	9.4
Large intestine	CW2	9.8
Large intestine	DLD1	8.9
Large intestine	GP2D	8.3
Large intestine	HCC56	8.3
Large intestine	HCT116	9.4
Large intestine	HCT15	9.2
Large intestine	HS675T	8.2
Large intestine	HS698T	8.1
Large intestine	HT115	9
Large intestine	HT29	9.1
Large intestine	HT55	8.5
Large intestine	KM12	8.6
Large intestine	LOVO	8.4
Large intestine	LS1034	8.3
Large intestine	LS123	8.6
Large intestine	LS180	8.5
Large intestine	LS411N	8.3
Large intestine	LS513	7.6
Large intestine	MDST8	9.2
Large intestine	NCIH508	8.9
Large intestine	NCIH716	8.1
Large intestine	NCIH747	8.3
Large intestine	OUMS23	9.1
Large intestine	RCM1	8.5
Large intestine	RKO	8.8
Large intestine	SKCO1	8.4
Large intestine	SNU1040	9.1
Large intestine	SNU1197	8.4
Large intestine	SNU175	8.8
Large intestine	SNU283	7.6
Large intestine	SNU407	9.5
Large intestine	SNU503	8.7
Large intestine	SNU61	8.6
Large intestine	SNU81	8.6
Large intestine	SNUC1	8.9
Large intestine	SNUC2A	8.6
Large intestine	SNUC4	9.1
Large intestine	SNUC5	8.7
Large intestine	SW1116	8.5
Large intestine	SW1417	8.8
Large intestine	SW1463	9.1
Large intestine	SW403	8.4
Large intestine	SW480	8.4
Large intestine	SW48	8.2
Large intestine	SW620	9.2
Large intestine	SW837	7.7
Large intestine	SW948	9.3
Large intestine	T84	8.7
Liver	ALEXANDERCELLS	8.1
Liver	C3A	8.6
Liver	HEP3B217	8.3
Liver	HEPG2	9
Liver	HLE	8.4
Liver	HLF	8.4
Liver	HUH1	8.1
Liver	HUH6	8.3
Liver	HUH7	8.1
Liver	JHH1	8.8
Liver	JHH2	8.2
Liver	JHH4	8.2
Liver	JHH5	9.3
Liver	JHH6	8.2
Liver	JHH7	9.3
Liver	LI7	8.2
Liver	PLCPRF5	9
Liver	SKHEP1	7.8
Liver	SNU182	8.5
Liver	SNU387	7.9
Liver	SNU398	9.3
Liver	SNU423	8.8
Liver	SNU449	7.9
Liver	SNU475	8.1
Liver	SNU761	7.1
Liver	SNU878	7.1
Liver	SNU886	9.1
Lung	A549	8.3
Lung	ABC1	7.8
Lung	BEN	9.7
Lung	CAL12T	8.5
Lung	CALU1	9
Lung	CALU3	8.2
Lung	CALU6	8.8
Lung	CHAGOK1	7.7
Lung	COLO668	8.6
Lung	COLO699	9
Lung	CORL105	8.9
Lung	CORL23	9.2
Lung	CORL24	8.4
Lung	CORL279	9.3
Lung	CORL311	9.4
Lung	CORL47	8.6
Lung	CORL51	8.5
Lung	CORL88	8.5
Lung	CORL95	8.5
Lung	CPCN	8.4
Lung	DMS114	9.4
Lung	DMS153	8.1
Lung	DMS273	8.8
Lung	DMS454	8
Lung	DMS53	8.7
Lung	DMS79	8.2
Lung	DV90	9
Lung	EBC1	9.2
Lung	EPLC272H	9.1
Lung	HARA	8.8
Lung	HCC1171	8.5
Lung	HCC1195	8.6
Lung	HCC15	8.6
Lung	HCC2279	8.5
Lung	HCC2935	8.3
Lung	HCC33	9.1
Lung	HCC366	7.7
Lung	HCC4006	7.7
Lung	HCC44	7.2
Lung	HCC78	8.3
Lung	HCC827	8.7
Lung	HCC95	8.6
Lung	HLC1	9.2
Lung	HLFA	7.8
Lung	HS229T	7.9
Lung	HS618T	8.3
Lung	IALM	9.7
Lung	KNS62	8.7
Lung	LC1F	8.3
Lung	LC1SQSF	8.1
Lung	LCLC103H	8.4
Lung	LCLC97TM1	8.7
Lung	LK2	9.1
Lung	LOUNH91	8.2
Lung	LU65	8.2
Lung	LU99	8.3
Lung	LUDLU1	8.4
Lung	LXF289	8.9
Lung	MORCPR	8.5
Lung	NCIH1048	9
Lung	NCIH1092	8
Lung	NCIH1105	8.7
Lung	NCIH1155	8.6
Lung	NCIH1184	8.9
Lung	NCIH1299	8.8
Lung	NCIH1339	8.2
Lung	NCIH1341	8.6
Lung	NCIH1355	8.5
Lung	NCIH1373	8.8
Lung	NCIH1385	7.8
Lung	NCIH1395	7.2
Lung	NCIH1435	8.5
Lung	NCIH1436	8.3
Lung	NCIH1437	8.5
Lung	NCIH146	8.7
Lung	NCIH1563	8.5
Lung	NCIH1568	8.3
Lung	NCIH1573	8.4
Lung	NCIH1581	9.4
Lung	NCIH1618	9.2
Lung	NCIH1623	8.2
Lung	NCIH1648	9
Lung	NCIH1650	8.4
Lung	NCIH1651	7.8
Lung	NCIH1666	8.9
Lung	NCIH1693	7.9
Lung	NCIH1694	8.6
Lung	NCIH1703	7.6
Lung	NCIH1734	8.9
Lung	NCIH1755	8.4
Lung	NCIH1781	8.3
Lung	NCIH1792	8.7
Lung	NCIH1793	8.5
Lung	NCIH1836	9
Lung	NCIH1838	8.9
Lung	NCIH1869	8.5
Lung	NCIH1876	8.1
Lung	NCIH1915	8.6
Lung	NCIH1930	9.1
Lung	NCIH1944	7.7
Lung	NCIH1963	9
Lung	NCIH196	7.6
Lung	NCIH1975	8.7
Lung	NCIH2009	7.6
Lung	NCIH2023	7.7
Lung	NCIH2029	9
Lung	NCIH2030	8.1
Lung	NCIH2066	8.9
Lung	NCIH2081	8.5
Lung	NCIH2085	8.3
Lung	NCIH2087	8.6
Lung	NCIH209	9
Lung	NCIH2106	8.9
Lung	NCIH2110	7.8
Lung	NCIH211	9.6
Lung	NCIH2122	7.8
Lung	NCIH2126	8.1
Lung	NCIH2141	9.1
Lung	NCIH2170	8.6
Lung	NCIH2171	9.3
Lung	NCIH2172	8.1
Lung	NCIH2196	8.6
Lung	NCIH2227	9.2
Lung	NCIH2228	9.1
Lung	NCIH226	8.7
Lung	NCIH2286	8.3
Lung	NCIH2291	7.8
Lung	NCIH2342	8.3
Lung	NCIH2347	8.5
Lung	NCIH23	8.8
Lung	NCIH2405	8.4
Lung	NCIH2444	7.9
Lung	NCIH292	9.5
Lung	NCIH322	8.2
Lung	NCIH3255	8.5
Lung	NCIH358	8.6
Lung	NCIH441	8.8
Lung	NCIH446	9.3
Lung	NCIH460	8.1
Lung	NCIH510	9.2
Lung	NCIH520	9
Lung	NCIH522	9.4
Lung	NCIH524	9
Lung	NCIH526	9.5
Lung	NCIH596	8.2
Lung	NCIH647	8.8
Lung	NCIH650	8.8
Lung	NCIH661	8.2
Lung	NCIH69	9.2
Lung	NCIH727	8.9
Lung	NCIH810	8.7
Lung	NCIH82	8.6
Lung	NCIH838	8.2
Lung	NCIH841	9.1
Lung	NCIH854	8.5
Lung	NCIH889	8.5
Lung	PC14	9
Lung	RERFLCAD1	8.3
Lung	RERFLCAD2	8.2
Lung	RERFLCAI	8.8
Lung	RERFLCKJ	8.5
Lung	RERFLCMS	8
Lung	RERFLCSQ1	7.9
Lung	SBC5	8.4
Lung	SCLC21H	8.4
Lung	SHP77	8.5
Lung	SKLU1	9.3
Lung	SKMES1	8.2
Lung	SQ1	9.2
Lung	SW1271	8.5
Lung	SW1573	8.1
Lung	SW900	8.4
Lung	VMRCLCD	8.9
Lung	VMRCLCP	9.6
Oesophagus	COLO680N	9.8
Oesophagus	ECGI10	8.1
Oesophagus	KYSE140	8.5
Oesophagus	KYSE150	8.7
Oesophagus	KYSE180	9
Oesophagus	KYSE270	10.1
Oesophagus	KYSE30	9
Oesophagus	KYSE410	8.6
Oesophagus	KYSE450	8.9
Oesophagus	KYSE510	9
Oesophagus	KYSE520	9.5
Oesophagus	KYSE70	8.3
Oesophagus	OE19	8.8
Oesophagus	OE33	8.9
Oesophagus	TE10	9
Oesophagus	TE11	8.5
Oesophagus	TE14	9
Oesophagus	TE15	8
Oesophagus	TE1	7.7
Oesophagus	TE4	9.2
Oesophagus	TE5	9.4
Oesophagus	TE6	8.4
Oesophagus	TE8	8.4
Oesophagus	TE9	8.6
Oesophagus	TT	9
Ovary	59M	9.3
Ovary	A2780	9
Ovary	CAOV3	8.7
Ovary	CAOV4	7.8
Ovary	COLO704	9.2
Ovary	COV318	8.7
Ovary	COV362	8.6
Ovary	COV434	8.2
Ovary	COV504	8
Ovary	COV644	7.8
Ovary	EFO21	8.6
Ovary	EFO27	8.9
Ovary	ES2	9.4
Ovary	FUOV1	9.1
Ovary	HEYA8	8.2
Ovary	HS571T	7.9
Ovary	IGROV1	8.8
Ovary	JHOC5	8.6
Ovary	JHOM1	8.3
Ovary	JHOM2B	7.6
Ovary	JHOS2	7.9
Ovary	JHOS4	8.8
Ovary	KURAMOCHI	9.5
Ovary	MCAS	9
Ovary	NIHOVCAR3	8.7
Ovary	OAW28	8.8
Ovary	OAW42	8.6
Ovary	OC314	8.9
Ovary	OC316	8.8
Ovary	ONCODG1	8.8
Ovary	OV56	8.4
Ovary	OV7	8.4
Ovary	OV90	8.7
Ovary	OVCAR4	8.4
Ovary	OVCAR8	8.6
Ovary	OVISE	8.5
Ovary	OVK18	8.8
Ovary	OVKATE	8.7
Ovary	OVMANA	6.9
Ovary	OVSAHO	8.5
Ovary	OVTOKO	8.5
Ovary	RMGI	8.7
Ovary	RMUGS	8.3
Ovary	SKOV3	8.2
Ovary	SNU119	8.7
Ovary	SNU840	8
Ovary	SNU8	8.2
Ovary	TOV112D	9.2
Ovary	TOV21G	7.8
Ovary	TYKNU	8.3
Pancreas	ASPC1	8.2
Pancreas	BXPC3	8.2
Pancreas	CAPAN1	8.9
Pancreas	CAPAN2	8.5
Pancreas	CFPAC1	8.3
Pancreas	DANG	8.9
Pancreas	HPAC	8.5
Pancreas	HPAFII	8.5
Pancreas	HS766T	8.9
Pancreas	HUPT3	9
Pancreas	HUPT4	8.9
Pancreas	KCIMOH1	7.9
Pancreas	KLM1	10
Pancreas	KP2	9.6
Pancreas	KP3	8.2
Pancreas	KP4	9.1
Pancreas	L33	8.3
Pancreas	MIAPACA2	9
Pancreas	PANC0203	8.9
Pancreas	PANC0213	9
Pancreas	PANC0327	8.5
Pancreas	PANC0403	8.1
Pancreas	PANC0504	8.8
Pancreas	PANC0813	9.2
Pancreas	PANC1005	9.1
Pancreas	PANC1	8.8
Pancreas	PATU8902	8.5
Pancreas	PATU8988S	8.7
Pancreas	PATU8988T	9.8
Pancreas	PK1	8.8
Pancreas	PK45H	7.9
Pancreas	PK59	7.9
Pancreas	PL45	8.8
Pancreas	PSN1	9.4
Pancreas	QGP1	8.1
Pancreas	SNU213	9
Pancreas	SNU324	8.4
Pancreas	SNU410	8.3
Pancreas	SU8686	8.7
Pancreas	SUIT2	7.5
Pancreas	SW1990	7.9
Pancreas	T3M4	8.6
Pancreas	TCCPAN2	9.1
Pancreas	YAPC	9.1
Pleura	ACCMESO1	7.4
Pleura	DM3	8.2
Pleura	ISTMES1	8.4
Pleura	ISTMES2	8.6
Pleura	JL1	8.7
Pleura	MPP89	8
Pleura	MSTO211H	8.5
Pleura	NCIH2052	9.1
Pleura	NCIH2452	8.4
Pleura	NCIH28	7.8
Prostate	22RV1	9.5
Prostate	DU145	8.8
Prostate	LNCAPCLONEFGC	7.8
Prostate	MDAPCA2B	9.2
Prostate	NCIH660	8.4
Prostate	PC3	9.5
Prostate	VCAP	10.4
Salivary gland	A253	8.6
Salivary gland	YD15	9.4
Skin	A101D	8.7
Skin	A2058	9.1
Skin	A375	9.7
Skin	C32	8.1
Skin	CHL1	9.1
Skin	CJM	8.8
Skin	COLO679	8
Skin	COLO741	8.7
Skin	COLO783	7.9
Skin	COLO792	8.3
Skin	COLO800	8
Skin	COLO818	7.4
Skin	COLO829	8.9
Skin	COLO849	8.6
Skin	G361	8.8
Skin	GRM	9.9
Skin	HMCB	8.8
Skin	HS294T	9.1
Skin	HS600T	7.9
Skin	HS688AT	8.1
Skin	HS695T	7.8
Skin	HS839T	8.2
Skin	HS852T	8.1
Skin	HS895T	7.3
Skin	HS934T	7.9
Skin	HS936T	8
Skin	HS939T	8.6
Skin	HS940T	8
Skin	HS944T	8.2
Skin	HT144	8.8
Skin	IGR1	7.9
Skin	IGR37	8.6
Skin	IGR39	8.3
Skin	IPC298	7.9
Skin	K029AX	8.5
Skin	LOXIMVI	9.2
Skin	MALME3M	7.1
Skin	MDAMB435S	8.5
Skin	MELHO	7.5
Skin	MELJUSO	8.3
Skin	MEWO	8.5
Skin	RPMI7951	8.1
Skin	RVH421	8.7
Skin	SH4	8.5
Skin	SKMEL1	8.1
Skin	SKMEL24	8.2
Skin	SKMEL28	7.5
Skin	SKMEL2	6.9
Skin	SKMEL30	8.5
Skin	SKMEL31	8.1
Skin	SKMEL3	8.5
Skin	SKMEL5	8.4
Skin	UACC257	8.7
Skin	UACC62	8.5
Skin	WM115	8.5
Skin	WM1799	8.4
Skin	WM2664	8.7
Skin	WM793	8
Skin	WM88	8.4
Skin	WM983B	8.3
Small intestine	HUTU80	9.5
Soft tissue	A204	8.9
Soft tissue	G401	9.1
Soft tissue	G402	9
Soft tissue	GCT	9.2
Soft tissue	HS729	8.7
Soft tissue	HT1080	8.9
Soft tissue	KYM1	8.2
Soft tissue	MESSA	9.2
Soft tissue	RD	8.2
Soft tissue	RH30	9.7
Soft tissue	RH41	9
Soft tissue	RKN	8.8
Soft tissue	S117	7.9
Soft tissue	SJRH30	9
Soft tissue	SKLMS1	9
Soft tissue	SKUT1	9.3
Soft tissue	TE125T	7.3
Soft tissue	TE159T	8
Soft tissue	TE441T	8.4
Soft tissue	TE617T	9.2
Stomach	2313287	7.9
Stomach	AGS	8.1
Stomach	AZ521	9.3
Stomach	ECC10	9.5
Stomach	ECC12	8.8
Stomach	FU97	8.4
Stomach	GCIY	8.5
Stomach	GSS	9.4
Stomach	GSU	8.9
Stomach	HGC27	9.2
Stomach	HS746T	8.9
Stomach	HUG1N	8.3
Stomach	IM95	9
Stomach	KATOIII	8.1
Stomach	KE39	9.1
Stomach	LMSU	9.4
Stomach	MKN1	8.3
Stomach	MKN45	8.7
Stomach	MKN74	8
Stomach	MKN7	9
Stomach	NCCSTCK140	8.6
Stomach	NCIN87	8.3
Stomach	NUGC2	8.9
Stomach	NUGC3	8.9
Stomach	NUGC4	8.6
Stomach	OCUM1	8.3
Stomach	RERFGC1B	9.1
Stomach	SH10TC	8.5
Stomach	SNU16	8.6
Stomach	SNU1	9.1
Stomach	SNU216	9.4
Stomach	SNU520	7.3
Stomach	SNU5	8.6
Stomach	SNU601	8.6
Stomach	SNU620	8.5
Stomach	SNU668	8
Stomach	SNU719	8.8
Stomach	TGBC11TKB	8.7
Thyroid	8305C	8.6
Thyroid	8505C	8.8
Thyroid	BCPAP	9.4
Thyroid	BHT101	7.8
Thyroid	CAL62	9.1
Thyroid	CGTHW1	8.5
Thyroid	FTC133	8.2
Thyroid	FTC238	8.1
Thyroid	ML1	7.3
Thyroid	SW579	8.8
Thyroid	TT2609C02	8.7
Thyroid	TT	9
Upper aerodigestive tract	BHY	9.2
Upper aerodigestive tract	BICR16	9.1
Upper aerodigestive tract	BICR18	8.6
Upper aerodigestive tract	BICR22	8.9
Upper aerodigestive tract	BICR31	8.6
Upper aerodigestive tract	BICR56	7.9
Upper aerodigestive tract	BICR6	8.7
Upper aerodigestive tract	CAL27	9.5
Upper aerodigestive tract	CAL33	8.5
Upper aerodigestive tract	DETROIT562	8.5
Upper aerodigestive tract	FADU	8.4
Upper aerodigestive tract	HS840T	8.4
Upper aerodigestive tract	HSC2	8.9
Upper aerodigestive tract	HSC3	9.1
Upper aerodigestive tract	HSC4	8.3
Upper aerodigestive tract	PECAPJ15	8.9
Upper aerodigestive tract	PECAPJ34CLONEC12	8
Upper aerodigestive tract	PECAPJ41CLONED2	7.9
Upper aerodigestive tract	PECAPJ49	8.8
Upper aerodigestive tract	SCC15	8.4
Upper aerodigestive tract	SCC25	8.6
Upper aerodigestive tract	SCC4	8.8
Upper aerodigestive tract	SCC9	9.4
Upper aerodigestive tract	SNU1076	8.6
Upper aerodigestive tract	SNU1214	8.4
Upper aerodigestive tract	SNU46	9.3
Upper aerodigestive tract	SNU899	9
Upper aerodigestive tract	YD10B	9.6
Upper aerodigestive tract	YD38	8.3
Upper aerodigestive tract	YD8	9.3
Urinary tract	5637	9.4
Urinary tract	639V	9.6
Urinary tract	647V	9.3
Urinary tract	BC3C	8.4
Urinary tract	BFTC905	8.6
Urinary tract	CAL29	7.4
Urinary tract	HS172T	7.1
Urinary tract	HT1197	8.1
Urinary tract	HT1376	8.7
Urinary tract	J82	8.7
Urinary tract	JMSU1	8.5
Urinary tract	KMBC2	8.6
Urinary tract	KU1919	8.5
Urinary tract	RT11284	8.7
Urinary tract	RT112	8.8
Urinary tract	RT4	8.3
Urinary tract	SCABER	9.1
Urinary tract	SW1710	8.7
Urinary tract	SW780	9
Urinary tract	T24	9.5
Urinary tract	TCCSUP	9
Urinary tract	UMUC1	9.4
Urinary tract	UMUC3	8.4
Urinary tract	VMCUB1	8.9

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	10.6
Adrenal gland	13.8
Appendix	17.5
Bone marrow	6.5
Breast	9.1
Cerebral cortex	17.7
Cervix, uterine	16.3
Colon	9.9
Duodenum	13.3
Endometrium	15
Epididymis	15.8
Esophagus	11
Fallopian tube	20.6
Gallbladder	13.1
Heart muscle	4.6
Kidney	9.5
Liver	6.1
Lung	13.8
Lymph node	21.7
Ovary	17.3
Pancreas	3.5
Parathyroid gland	18.9
Placenta	16.5
Prostate	14.7
Rectum	9.5
Salivary gland	8
Seminal vesicle	16
Skeletal muscle	2.2
Skin	19.7
Small intestine	13
Smooth muscle	11.3
Spleen	22
Stomach	11.2
Testis	17
Thyroid gland	22.2
Tonsil	15.1
Urinary bladder	12.4

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
25034529	Underexpression	Osteosarcoma	Here, our results show menin expression is significantly down-regulated in osteosarcoma tissues, compared with adjacent normal tissues.
24845612	Overexpression	Hepatocellular Carcinoma	Importantly, Kaplan-Meier analysis reveals that 3-year overall and tumour-free survival rates are dramatically reduced in patients that simultaneously express EZH2 and menin, compared to rates in the EZH2 or menin under expressing patients.
24276465	Mutation; Underexpression	Lung Neuroendocrine Neuroplasms	MEN1 mutations were found in 7 of 55 (13%) carcinoids and in 1 HGNEC, mostly associated with loss of the second allele. MEN1 decreased expression levels correlated with the presence of mutations (P = .0060) and was also lower in HGNECs than carcinoids (P = .0024). Patients with carcinoids harboring MEN1 mutation and loss had shorter overall survival (P = .039 and P = .035, respectively) and low MEN1 mRNA levels correlated with distant metastasis (P = .00010) and shorter survival (P = .0071).
22825745	Aberrant Expression	Sporadic Carcinoids	Menin was expressed in 71% of cases, with a prevalent cytoplasmic (c) localization, β-catenin was expressed in 68.4% of cases, of which 36.8% with a membranous (m) and 31.6% with a cytoplasmic localization.
20566584	Aberrant Expression	Pancreatic Endocrine Tumour	Menin immunostaining showed strong nuclear and very faint cytoplasmic signal in normal islet cells, whereas it displayed abnormal location and expression levels in 80% of tumors.
28442921	Underexpression	Ovarian Carcinoma	Menin is encoded by MEN1, a tumor suppressor gene, that is usually downregulated in ovarian cancer.
28087162	Underexpression	Cholangiocarcinoma	Menin expression was decreased in advanced CCA specimens, whereas miR-24 expression was increased in CCA.

Summary
Symbol	MEN1
Name	menin 1
Aliases	menin; MEAI
Location	11q13
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Somatic copy number alteration in primary tomur tissue

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Correlation between expression and SCNA as well as percentage of patients in different status.

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.497	1.42e-26	21.3	56.2	22.5	Neutral
BRCA	Breast invasive carcinoma	1075	0.591	3.35e-102	22.4	61.2	16.4	Neutral
CESC	Cervical and endocervical cancers	292	0.578	1.98e-27	21.2	68.2	10.6	Neutral
COAD	Colon adenocarcinoma	449	0.468	7.58e-26	14.5	75.1	10.5	Neutral
ESCA	Esophageal carcinoma	183	0.449	1.83e-10	18.6	51.9	29.5	Neutral
GBM	Glioblastoma multiforme	147	0.294	0.000297	17	81	2	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.641	8.94e-61	13.2	58.8	28	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.133	0.00227	3.4	90.3	6.3	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.262	6.47e-06	5.6	91.3	3.1	Neutral
LAML	Acute Myeloid Leukemia	166	0.319	2.79e-05	0	96.4	3.6	Neutral
LGG	Brain Lower Grade Glioma	513	0.219	5.47e-07	4.3	86.5	9.2	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.418	8.24e-17	18.1	76.4	5.5	Neutral
LUAD	Lung adenocarcinoma	512	0.502	5.13e-34	15.8	58	26.2	Neutral
LUSC	Lung squamous cell carcinoma	498	0.509	3.96e-34	20.1	55.6	24.3	Neutral
OV	Ovarian serous cystadenocarcinoma	300	0.567	7.19e-27	21.3	50.3	28.3	Neutral
PAAD	Pancreatic adenocarcinoma	177	0.379	1.91e-07	7.9	83.6	8.5	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.618	1.86e-18	21.6	75.9	2.5	Neutral
PRAD	Prostate adenocarcinoma	491	0.337	1.72e-14	1.4	91	7.5	Neutral
READ	Rectum adenocarcinoma	164	0.548	2.92e-14	20.7	64	15.2	Neutral
SARC	Sarcoma	255	0.546	3.08e-21	24.3	61.2	14.5	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.495	4.93e-24	35.4	52.9	11.7	Loss
STAD	Stomach adenocarcinoma	413	0.38	1.33e-15	12.3	71.4	16.2	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.457	4.31e-09	76	21.3	2.7	Loss
THCA	Thyroid carcinoma	497	0.341	5.48e-15	1.6	97.4	1	Neutral
THYM	Thymoma	119	0.402	5.91e-06	5.9	93.3	0.8	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.498	5.46e-35	8.9	79.1	11.9	Neutral

Summary
Symbol	MEN1
Name	menin 1
Aliases	menin; MEAI
Location	11q13
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Methylation level in the promoter region of CR

> Methylation level in the promoter region of CR

[ TOP ]

Correlation between expression and methylation as well as differential methylation analysis.

Cancer	Full Name	R	P	# N	# T	Delta beta (T vs N)	P value (T vs N)	Status
BLCA	Bladder urothelial carcinoma	-0.307	1.23e-10	17	408	-0.149	2.89e-26	NS/NA
BRCA	Breast invasive carcinoma	-0.156	4.02e-06	83	785	-0.043	6.94e-54	NS/NA
CESC	Cervical and endocervical cancers	-0.093	0.102	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.211	0.000166	19	297	-0.064	0.000439	NS/NA
ESCA	Esophageal carcinoma	-0.321	5.64e-06	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.235	0.0595	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.098	0.0227	20	522	-0.015	0.695	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.127	0.0187	24	319	0.002	0.0355	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.143	0.0134	23	275	-0.011	0.000256	NS/NA
LAML	Acute Myeloid Leukemia	-0.067	0.383	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.244	1.46e-08	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.143	0.00361	41	373	-0.022	7.59e-17	NS/NA
LUAD	Lung adenocarcinoma	-0.159	0.000511	21	456	-0.031	1.8e-06	NS/NA
LUSC	Lung squamous cell carcinoma	-0.231	6.1e-06	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.65	0.0666	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.343	2.3e-06	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.352	8.97e-07	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.365	0	35	498	-0.066	1.58e-05	NS/NA
READ	Rectum adenocarcinoma	-0.323	0.00103	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.258	2.34e-05	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.225	8.11e-07	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.206	6.72e-05	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.29	0.00025	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.119	0.0049	50	509	-0.005	0.0356	NS/NA
THYM	Thymoma	-0.045	0.625	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.046	0.32	34	431	-0.037	8.26e-20	NS/NA

Summary
Symbol	MEN1
Name	menin 1
Aliases	menin; MEAI
Location	11q13
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Primary tumor tissue from TCGA > Normal tumor tissue from HPA

>The Cancer Genome Atlas (TCGA) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Level	Level Name
Adrenal gland	2	Medium
Appendix	2	Medium
Bone marrow	1	Low
Breast	1	Low
Bronchus	0	Not detected
Caudate	2	Medium
Cerebellum	1	Low
Cerebral cortex	2	Medium
Cervix, uterine	0	Not detected
Colon	2	Medium
Duodenum	2	Medium
Endometrium	0	Not detected
Epididymis	1	Low
Esophagus	1	Low
Fallopian tube	0	Not detected
Gallbladder	0	Not detected
Heart muscle	0	Not detected
Hippocampus	2	Medium
Kidney	2	Medium
Liver	0	Not detected
Lung	0	Not detected
Lymph node	1	Low
Nasopharynx	0	Not detected
Oral mucosa	1	Low
Ovary	0	Not detected
Pancreas	0	Not detected
Parathyroid gland	0	Not detected
Placenta	2	Medium
Prostate	0	Not detected
Rectum	2	Medium
Salivary gland	0	Not detected
Seminal vesicle	0	Not detected
Skeletal muscle	1	Low
Skin	2	Medium
Small intestine	0	Not detected
Smooth muscle	0	Not detected
Soft tissue	2	Medium
Spleen	0	Not detected
Stomach	2	Medium
Testis	2	Medium
Thyroid gland	1	Low
Tonsil	2	Medium
Urinary bladder	1	Low
Vagina	1	Low

Summary
Symbol	MEN1
Name	menin 1
Aliases	menin; MEAI
Location	11q13
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Association between expresson and subtype > Overall survival analysis based on expression > Association between expresson and stage > Association between expresson and grade

> Subtype

[ TOP ]

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.195	NS	24476821
BRCA	Breast invasive carcinoma	521	0.00192	Significant	23000897
COAD	Colon adenocarcinoma	149	0.0138	Significant	22810696
GBM	Glioblastoma multiforme	157	0.0012	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	3.42e-05	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.476	NS	26536169
LGG	Brain Lower Grade Glioma	513	0.00364	Significant	26824661
LUAD	Lung adenocarcinoma	230	0.478	NS	25079552
LUSC	Lung squamous cell carcinoma	178	7.83e-06	Significant	22960745
OV	Ovarian serous cystadenocarcinoma	287	1.27e-05	Significant	21720365
PRAD	Prostate adenocarcinoma	333	0.0228	Significant	26544944
READ	Rectum adenocarcinoma	67	0.00118	Significant	22810696
SKCM	Skin Cutaneous Melanoma	315	0.192	NS	26091043
STAD	Stomach adenocarcinoma	277	5.09e-06	Significant	25079317
THCA	Thyroid carcinoma	391	4.54e-08	Significant	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.00213	Significant	23636398

> Overall survival

[ TOP ]

Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	1.045	0.844	NS
BRCA	Breast invasive carcinoma	1079	1.153	0.523	NS
CESC	Cervical and endocervical cancers	291	1.4	0.33	NS
COAD	Colon adenocarcinoma	439	0.825	0.487	NS
ESCA	Esophageal carcinoma	184	0.769	0.419	NS
GBM	Glioblastoma multiforme	158	0.988	0.965	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.999	0.997	NS
KIRC	Kidney renal clear cell carcinoma	531	1.906	0.0019	Shorter
KIRP	Kidney renal papillary cell carcinoma	287	1.197	0.632	NS
LAML	Acute Myeloid Leukemia	149	1.485	0.174	NS
LGG	Brain Lower Grade Glioma	511	2.266	0.00107	Shorter
LIHC	Liver hepatocellular carcinoma	365	1.105	0.696	NS
LUAD	Lung adenocarcinoma	502	1.256	0.29	NS
LUSC	Lung squamous cell carcinoma	494	0.844	0.381	NS
OV	Ovarian serous cystadenocarcinoma	303	0.736	0.145	NS
PAAD	Pancreatic adenocarcinoma	177	0.851	0.594	NS
PCPG	Pheochromocytoma and Paraganglioma	179	785037358.569	0.0505	NS
PRAD	Prostate adenocarcinoma	497	0.929	0.941	NS
READ	Rectum adenocarcinoma	159	0.621	0.378	NS
SARC	Sarcoma	259	1.806	0.0244	Shorter
SKCM	Skin Cutaneous Melanoma	459	1.618	0.00865	Shorter
STAD	Stomach adenocarcinoma	388	0.595	0.0167	Longer
TGCT	Testicular Germ Cell Tumors	134	1	1	NS
THCA	Thyroid carcinoma	500	0.639	0.537	NS
THYM	Thymoma	119	0.234	0.18	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	1.506	0.164	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.064	0.201	NS
BRCA	Breast invasive carcinoma	1071	0.052	0.0904	NS
CESC	Cervical and endocervical cancers	167	0.146	0.0591	NS
COAD	Colon adenocarcinoma	445	0.005	0.924	NS
ESCA	Esophageal carcinoma	162	-0.104	0.187	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.062	0.193	NS
KIRC	Kidney renal clear cell carcinoma	531	0.059	0.173	NS
KIRP	Kidney renal papillary cell carcinoma	260	0.047	0.446	NS
LIHC	Liver hepatocellular carcinoma	347	-0.067	0.213	NS
LUAD	Lung adenocarcinoma	507	0.07	0.118	NS
LUSC	Lung squamous cell carcinoma	497	0.106	0.0182	Higher
OV	Ovarian serous cystadenocarcinoma	302	-0.071	0.216	NS
PAAD	Pancreatic adenocarcinoma	176	-0.095	0.208	NS
READ	Rectum adenocarcinoma	156	0.04	0.617	NS
SKCM	Skin Cutaneous Melanoma	410	-0.063	0.204	NS
STAD	Stomach adenocarcinoma	392	-0.116	0.0222	Lower
TGCT	Testicular Germ Cell Tumors	81	0.035	0.76	NS
THCA	Thyroid carcinoma	499	0.113	0.0116	Higher
UCEC	Uterine Corpus Endometrial Carcinoma	501	0.1	0.0253	Higher

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	0.071	0.24	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.011	0.806	NS
KIRC	Kidney renal clear cell carcinoma	525	0.087	0.0474	Higher
LGG	Brain Lower Grade Glioma	514	0.213	1.16e-06	Higher
LIHC	Liver hepatocellular carcinoma	366	0.079	0.13	NS
OV	Ovarian serous cystadenocarcinoma	296	0.126	0.0297	Higher
PAAD	Pancreatic adenocarcinoma	176	0.035	0.645	NS
STAD	Stomach adenocarcinoma	406	-0.183	0.000205	Lower
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.285	1.82e-11	Higher

Summary
Symbol	MEN1
Name	menin 1
Aliases	menin; MEAI
Location	11q13
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Targets inferred by reverse engineering method > Targets identified by ChIP-seq data

> Targets inferred by reverse engineering method [ TOP ]

> Targets identified by ChIP-seq data [ TOP ]

Summary
Symbol	MEN1
Name	menin 1
Aliases	menin; MEAI
Location	11q13
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Drugs from DrugBank database

> Drugs from DrugBank database [ TOP ]
There is no record for MEN1.

Summary
Symbol	MEN1
Name	menin 1
Aliases	menin; MEAI
Location	11q13
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Protein-Protein Interaction Network > miRNA Regulatory Relationship > Interactions from Text Mining

> Protein-Protein Interaction Network [ TOP ]

> miRNA Regulatory Relationship [ TOP ]
There is no record for MEN1.

> Interactions from Text Mining

[ TOP ]

PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
24845612	Hepatocellular Carcinoma	partner	EZH2	correlation	Importantly, Kaplan-Meier analysis reveals that 3-year overall and tumour-free survival rates are dramatically reduced in patients that simultaneously express EZH2 and menin, compared to rates in the EZH2 or menin under expressing patients.
28701629	Pituitary Gland Neoplasm	partner	MSH6	Association	Furthermore, immunohistochemical analysis showed that MLH1 and MSH6 immunoexpression were negative. We reveal for the first time that MMR abnormality could cause somatic mutation of MEN1 and pituitary tumor occurrence is associated with Lynch syndrome.
28442921	Ovarian Carcinoma	upstream	miR-762	Negative regulation	In addition, we found that miR-762 can downregulate the expression of menin through a binding site in its 3'-UTR and consequently upregulate the Wnt cell signaling pathway to promote the development of ovarian cancer.
28087162	Cholangiocarcinoma	upstream	miR-24	Negative regulation	Inhibition of miR-24 increased menin protein expression while decreasing proliferation, angiogenesis, migration, and invasion. miR-24 was shown to negatively regulate menin expression by luciferase assay.