Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

2100

Name

ESR2

Synonymous

estrogen receptor 2 (ER beta);ESR2;estrogen receptor 2 (ER beta)

Definition

estrogen receptor beta|estrogen receptor beta 4|nuclear receptor subfamily 3 group A member 2

Position

14q23.2

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.05.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.680G>T; p.R227L; 14:64260721-64260721

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.759C>T; p.P253P; 14:64260642-64260642

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.652G>T; p.G218C; 14:64268795-64268795

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.238T>C; p.W80R; 14:64282748-64282748

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.238T>C; p.W80R; 14:64282748-64282748

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1542G>A; p.P514P; 14:64233188-64233188

 skinmalignant_melanomaSubstitution - coding silent

c.1586C>T; p.S529F; 14:64233144-64233144

 skinmalignant_melanomaSubstitution - Missense

c.772C>T; p.L258L; 14:64260629-64260629

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.831G>A; p.P277P; 14:64260570-64260570

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1342T>A; p.S448T; 14:64235034-64235034

 skin; handcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1457C>T; p.P486L; 14:64233273-64233273

 thyroidother; neoplasmSubstitution - Missense

c.460G>A; p.D154N; 14:64280056-64280056

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1014G>A; p.V338V; 14:64257303-64257303

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1014G>A; p.V338V; 14:64257303-64257303

 livercarcinomaSubstitution - coding silent

c.485G>C; p.G162A; 14:64280031-64280031

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1265G>T; p.S422I; 14:64235111-64235111

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.552T>G; p.I184M; 14:64268895-64268895

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.81C>T; p.H27H; 14:64282905-64282905

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1101G>A; p.G367G; 14:64249670-64249670

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.455G>T; p.C152F; 14:64280061-64280061

 livercarcinomaSubstitution - Missense

c.455G>T; p.C152F; 14:64280061-64280061

 livercarcinomaSubstitution - Missense

c.1132G>C; p.D378H; 14:64249639-64249639

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.1132G>C; p.D378H; 14:64249639-64249639

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.1132G>C; p.D378H; 14:64249639-64249639

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.679C>T; p.R227C; 14:64260722-64260722

 breastcarcinomaSubstitution - Missense

c.414T>C; p.T138T; 14:64280102-64280102

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.137T>C; p.M46T; 14:64282849-64282849

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1297G>A; p.V433M; 14:64235079-64235079

 prostatecarcinomaSubstitution - Missense

c.733G>A; p.A245T; 14:64260668-64260668

 skinmalignant_melanomaSubstitution - Missense

c.439C>T; p.H147Y; 14:64280077-64280077

 breastcarcinomaSubstitution - Missense

c.766C>T; p.R256W; 14:64260635-64260635

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1010A>T; p.E337V; 14:64257307-64257307

 skinmalignant_melanomaSubstitution - Missense

c.861G>A; p.A287A; 14:64260540-64260540

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.937G>A; p.A313T; 14:64260464-64260464

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.674G>T; p.G225V; 14:64260727-64260727

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1065C>A; p.I355I; 14:64257252-64257252

 livercarcinomaSubstitution - coding silent

c.1054G>A; p.G352S; 14:64257263-64257263

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1065C>A; p.I355I; 14:64257252-64257252

 livercarcinomaSubstitution - coding silent

c.1086G>A; p.L362L; 14:64257231-64257231

 skinmalignant_melanomaSubstitution - coding silent

c.1091delG; p.D365fs*6; 14:64249680-64249680

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.1495G>A; p.V499M; 14:64233235-64233235

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.371T>C; p.L124P; 14:64280145-64280145

 pancreascarcinomaSubstitution - Missense

c.783C>T; p.D261D; 14:64260618-64260618

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.549T>C; p.Y183Y; 14:64268898-64268898

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1576A>T; p.N526Y; 14:64233154-64233154

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1494C>T; p.H498H; 14:64233236-64233236

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.859G>A; p.A287T; 14:64260542-64260542

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.474A>C; p.G158G; 14:64280042-64280042

 breastcarcinomaSubstitution - coding silent

c.996G>A; p.E332E; 14:64257321-64257321

 skinmalignant_melanomaSubstitution - coding silent

c.850C>T; p.R284C; 14:64260551-64260551

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.961G>A; p.E321K; 14:64257356-64257356

 skinmalignant_melanomaSubstitution - Missense

c.1575G>A; p.Q525Q; 14:64233155-64233155

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.631G>A; p.E211K; 14:64268816-64268816

 breastcarcinomaSubstitution - Missense

c.810C>T; p.L270L; 14:64260591-64260591

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.659G>A; p.R220Q; 14:64260742-64260742

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.519T>A; p.F173L; 14:64279997-64279997

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1055G>A; p.G352D; 14:64257262-64257262

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.353C>T; p.P118L; 14:64282633-64282633

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.98C>T; p.P33L; 14:64282888-64282888

 skinmalignant_melanomaSubstitution - Missense

c.14delA; p.N5fs*33; 14:64282972-64282972

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.1525G>A; p.G509R; 14:64233205-64233205

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.740G>A; p.R247K; 14:64260661-64260661

 skinmalignant_melanomaSubstitution - Missense

c.947T>A; p.I316N; 14:64260454-64260454

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.984G>A; p.V328V; 14:64257333-64257333

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1572C>T; p.S524S; 14:64233158-64233158

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.984G>A; p.V328V; 14:64257333-64257333

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.984G>A; p.V328V; 14:64257333-64257333

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.115A>C; p.S39R; 14:64282871-64282871

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.115A>C; p.S39R; 14:64282871-64282871

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.335C>T; p.S112L; 14:64282651-64282651

 skinmalignant_melanomaSubstitution - Missense

c.1186G>T; p.E396*; 14:64249585-64249585

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.620G>A; p.R207Q; 14:64268827-64268827

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.335C>T; p.S112L; 14:64282651-64282651

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.335C>T; p.S112L; 14:64282651-64282651

 skinmalignant_melanomaSubstitution - Missense

c.620G>A; p.R207Q; 14:64268827-64268827

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.620G>A; p.R207Q; 14:64268827-64268827

 central_nervous_system; braingliomaSubstitution - Missense

c.473G>A; p.G158E; 14:64280043-64280043

 skinmalignant_melanomaSubstitution - Missense

c.1501C>T; p.R501C; 14:64233229-64233229

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.343C>T; p.H115Y; 14:64282643-64282643

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.343C>T; p.H115Y; 14:64282643-64282643

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1075G>T; p.D359Y; 14:64257242-64257242

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.263C>T; p.P88L; 14:64282723-64282723

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.976G>C; p.D326H; 14:64257341-64257341

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.870C>T; p.T290T; 14:64260531-64260531

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.812C>T; p.T271I; 14:64260589-64260589

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.690G>A; p.R230R; 14:64260711-64260711

 skinmalignant_melanomaSubstitution - coding silent

c.1490C>T; p.A497V; 14:64233240-64233240

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1115G>A; p.G372E; 14:64249656-64249656

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.580G>A; p.D194N; 14:64268867-64268867

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.580G>A; p.D194N; 14:64268867-64268867

 skinmalignant_melanomaSubstitution - Missense

c.1205C>T; p.A402V; 14:64249566-64249566

 livercarcinomaSubstitution - Missense

c.1182C>G; p.H394Q; 14:64249589-64249589

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1182C>G; p.H394Q; 14:64249589-64249589

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.951C>A; p.P317P; 14:64260450-64260450

 ovaryother; neoplasmSubstitution - coding silent

c.951C>A; p.P317P; 14:64260450-64260450

 ovaryother; neoplasmSubstitution - coding silent

c.726C>T; p.A242A; 14:64260675-64260675

 stomachadenocarcinomaSubstitution - coding silent

c.1054G>T; p.G352C; 14:64257263-64257263

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.292C>T; p.L98L; 14:64282694-64282694

 skinmalignant_melanomaSubstitution - coding silent

c.63C>A; p.S21S; 14:64282923-64282923

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.784G>A; p.A262T; 14:64260617-64260617

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.63C>T; p.S21S; 14:64282923-64282923

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.784G>A; p.A262T; 14:64260617-64260617

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1121T>C; p.L374P; 14:64249650-64249650

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1530C>T; p.S510S; 14:64233200-64233200

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1108G>A; p.V370I; 14:64249663-64249663

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.536G>A; p.G179E; 14:64268911-64268911

 skinmalignant_melanomaSubstitution - Missense

c.502G>A; p.G168R; 14:64280014-64280014

 skinmalignant_melanomaSubstitution - Missense

c.1407-4A>G; p.?; 14:64233327-64233327

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.977A>G; p.D326G; 14:64257340-64257340

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.638G>A; p.G213E; 14:64268809-64268809

 skin; extremitymalignant_melanomaSubstitution - Missense

c.976G>A; p.D326N; 14:64257341-64257341

 breastcarcinomaSubstitution - Missense

c.106T>C; p.Y36H; 14:64282880-64282880

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1504G>A; p.G502R; 14:64233226-64233226

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1100G>A; p.G367E; 14:64249671-64249671

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1302C>T; p.T434T; 14:64235074-64235074

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1212C>T; p.I404I; 14:64249559-64249559

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1356C>T; p.S452S; 14:64235020-64235020

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.400G>A; p.A134T; 14:64280116-64280116

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.277C>T; p.R93C; 14:64282709-64282709

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.589C>T; p.R197W; 14:64268858-64268858

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1194C>T; p.L398L; 14:64249577-64249577

 skinmalignant_melanomaSubstitution - coding silent

c.952G>A; p.G318S; 14:64260449-64260449

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.775C>A; p.L259M; 14:64260626-64260626

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

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