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

Basic Information

Gene ID

56981

Name

PRDM11

Synonymous

PR domain containing 11;PRDM11;PR domain containing 11

Definition

PR domain-containing protein 11|PR-domain containing protein 11

Position

11p11

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 0.06.

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.897A>C; p.E299D; 11:45224269-45224269

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.9G>T; p.K3N; 11:45095814-45095814

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1273G>T; p.D425Y; 11:45224645-45224645

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1011G>C; p.L337L; 11:45224383-45224383

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.431C>T; p.A144V; 11:45182966-45182966

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.154G>T; p.D52Y; 11:45181818-45181818

 skinmalignant_melanomaSubstitution - Missense

c.524T>G; p.I175S; 11:45183059-45183059

 skinmalignant_melanomaSubstitution - Missense

c.1122C>T; p.D374D; 11:45224494-45224494

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1139C>T; p.A380V; 11:45224511-45224511

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.169G>C; p.V57L; 11:45181833-45181833

 livercarcinomaSubstitution - Missense

c.169G>C; p.V57L; 11:45181833-45181833

 livercarcinomaSubstitution - Missense

c.1485G>A; p.W495*; 11:45224857-45224857

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.89G>A; p.R30K; 11:45095894-45095894

 skinmalignant_melanomaSubstitution - Missense

c.42G>T; p.V14V; 11:45095847-45095847

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1309C>G; p.H437D; 11:45224681-45224681

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1016T>C; p.F339S; 11:45224388-45224388

 skinmalignant_melanomaSubstitution - Missense

c.1121A>C; p.D374A; 11:45224493-45224493

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.375C>A; p.G125G; 11:45182910-45182910

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1366C>T; p.R456W; 11:45224738-45224738

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1029_1030GG>AA; p.L343>?; 11:45224401-45224402

 kidneycarcinoma; clear_cell_renal_cell_carcinomaComplex

c.1526G>A; p.C509Y; 11:45224898-45224898

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1268A>T; p.K423M; 11:45224640-45224640

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.525C>A; p.I175I; 11:45183060-45183060

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.826C>G; p.H276D; 11:45219739-45219739

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.428C>T; p.A143V; 11:45182963-45182963

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.196C>T; p.R66*; 11:45181860-45181860

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.932G>T; p.R311I; 11:45224304-45224304

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1220A>T; p.K407M; 11:45224592-45224592

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.487G>A; p.V163M; 11:45183022-45183022

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.631G>A; p.D211N; 11:45204753-45204753

 skinmalignant_melanomaSubstitution - Missense

c.91G>A; p.E31K; 11:45095896-45095896

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1039C>G; p.L347V; 11:45224411-45224411

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.501C>T; p.N167N; 11:45183036-45183036

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.607C>A; p.R203S; 11:45204729-45204729

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.781G>A; p.E261K; 11:45219694-45219694

 skinmalignant_melanomaSubstitution - Missense

c.1237G>C; p.E413Q; 11:45224609-45224609

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1188delG; p.D398fs*54; 11:45224560-45224560

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1239G>A; p.E413E; 11:45224611-45224611

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1186G>A; p.E396K; 11:45224558-45224558

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1048G>A; p.A350T; 11:45224420-45224420

 skinmalignant_melanomaSubstitution - Missense

c.381G>A; p.P127P; 11:45182916-45182916

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.291C>T; p.I97I; 11:45182315-45182315

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.39C>A; p.I13I; 11:45095844-45095844

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.816_817GG>AA; p.E273K; 11:45219729-45219730

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.146C>T; p.A49V; 11:45181810-45181810

 skin; armmalignant_melanomaSubstitution - Missense

c.1215C>T; p.V405V; 11:45224587-45224587

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.409G>A; p.V137M; 11:45182944-45182944

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1348C>T; p.R450C; 11:45224720-45224720

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1348C>T; p.R450C; 11:45224720-45224720

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1348C>T; p.R450C; 11:45224720-45224720

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1348C>T; p.R450C; 11:45224720-45224720

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1049C>T; p.A350V; 11:45224421-45224421

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.718C>T; p.R240C; 11:45219631-45219631

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.429G>A; p.A143A; 11:45182964-45182964

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.927G>A; p.V309V; 11:45224299-45224299

 breastcarcinomaSubstitution - coding silent

c.1029G>A; p.L343L; 11:45224401-45224401

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.283G>T; p.D95Y; 11:45182307-45182307

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.375delC; p.P127fs*40; 11:45182910-45182910

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.749G>A; p.R250Q; 11:45219662-45219662

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.426G>A; p.R142R; 11:45182961-45182961

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1458C>A; p.F486L; 11:45224830-45224830

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.639C>T; p.T213T; 11:45204761-45204761

 skinmalignant_melanomaSubstitution - coding silent

c.1197G>A; p.W399*; 11:45224569-45224569

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1147A>G; p.M383V; 11:45224519-45224519

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.874G>C; p.E292Q; 11:45224246-45224246

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1184G>T; p.G395V; 11:45224556-45224556

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.909T>A; p.G303G; 11:45224281-45224281

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1475A>C; p.K492T; 11:45224847-45224847

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.149T>G; p.V50G; 11:45181813-45181813

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1272C>T; p.A424A; 11:45224644-45224644

 breastcarcinomaSubstitution - coding silent

c.389T>G; p.V130G; 11:45182924-45182924

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.614A>C; p.K205T; 11:45204736-45204736

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.282C>T; p.R94R; 11:45182306-45182306

 pancreascarcinomaSubstitution - coding silent

c.855G>T; p.R285S; 11:45224227-45224227

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.855G>T; p.R285S; 11:45224227-45224227

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.855G>T; p.R285S; 11:45224227-45224227

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1055T>G; p.V352G; 11:45224427-45224427

 breastcarcinomaSubstitution - Missense

c.742G>T; p.D248Y; 11:45219655-45219655

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.148G>T; p.V50L; 11:45181812-45181812

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1411C>T; p.P471S; 11:45224783-45224783

 skinmalignant_melanomaSubstitution - Missense

c.1411C>T; p.P471S; 11:45224783-45224783

 skinmalignant_melanomaSubstitution - Missense

c.1030G>A; p.E344K; 11:45224402-45224402

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.510C>T; p.I170I; 11:45183045-45183045

 skinmalignant_melanomaSubstitution - coding silent

c.1461G>A; p.S487S; 11:45224833-45224833

 prostatecarcinomaSubstitution - coding silent

c.1460C>T; p.S487L; 11:45224832-45224832

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1460C>T; p.S487L; 11:45224832-45224832

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.49C>T; p.R17W; 11:45095854-45095854

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.452T>C; p.M151T; 11:45182987-45182987

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.978A>G; p.V326V; 11:45224350-45224350

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.780C>T; p.S260S; 11:45219693-45219693

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.641A>C; p.K214T; 11:45204763-45204763

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.955C>T; p.R319C; 11:45224327-45224327

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.364C>T; p.P122S; 11:45182899-45182899

 skinmalignant_melanomaSubstitution - Missense

c.148G>C; p.V50L; 11:45181812-45181812

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.955C>T; p.R319C; 11:45224327-45224327

 central_nervous_system; braingliomaSubstitution - Missense

c.1292C>T; p.S431F; 11:45224664-45224664

 skinmalignant_melanomaSubstitution - Missense

c.1042G>A; p.E348K; 11:45224414-45224414

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.549C>T; p.I183I; 11:45183084-45183084

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.869A>C; p.K290T; 11:45224241-45224241

 skinmalignant_melanomaSubstitution - Missense

c.869A>C; p.K290T; 11:45224241-45224241

 skinmalignant_melanomaSubstitution - Missense

c.195C>T; p.L65L; 11:45181859-45181859

 breastcarcinomaSubstitution - coding silent

c.806G>T; p.S269I; 11:45219719-45219719

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.327C>T; p.F109F; 11:45182862-45182862

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.964G>A; p.D322N; 11:45224336-45224336

 skinmalignant_melanomaSubstitution - Missense

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