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

Basic Information

Gene ID

116135

Name

LRRC3B

Synonymous

leucine rich repeat containing 3B;LRRC3B;leucine rich repeat containing 3B

Definition

leucine-rich repeat protein LRP15|leucine-rich repeat-containing protein 3B

Position

3p24

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 0.09.

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.607G>A; p.D203N; 3:26710279-26710279

 skinmalignant_melanomaSubstitution - Missense

c.328G>A; p.G110R; 3:26710000-26710000

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.110G>T; p.G37V; 3:26709782-26709782

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.335C>T; p.A112V; 3:26710007-26710007

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.642C>T; p.F214F; 3:26710314-26710314

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.185T>C; p.L62P; 3:26709857-26709857

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.185T>C; p.L62P; 3:26709857-26709857

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.185T>C; p.L62P; 3:26709857-26709857

 large_intestine; coloncarcinomaSubstitution - Missense

c.185T>C; p.L62P; 3:26709857-26709857

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.424A>C; p.I142L; 3:26710096-26710096

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.607G>T; p.D203Y; 3:26710279-26710279

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.115C>T; p.L39F; 3:26709787-26709787

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.191C>A; p.P64H; 3:26709863-26709863

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.115C>T; p.L39F; 3:26709787-26709787

 skinmalignant_melanomaSubstitution - Missense

c.180A>T; p.R60S; 3:26709852-26709852

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.187C>T; p.P63S; 3:26709859-26709859

 skinmalignant_melanomaSubstitution - Missense

c.595A>G; p.K199E; 3:26710267-26710267

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.760G>A; p.D254N; 3:26710432-26710432

 skinmalignant_melanomaSubstitution - Missense

c.751G>A; p.E251K; 3:26710423-26710423

 skinmalignant_melanomaSubstitution - Missense

c.508G>A; p.V170M; 3:26710180-26710180

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.280A>G; p.N94D; 3:26709952-26709952

 skinmalignant_melanomaSubstitution - Missense

c.42G>T; p.M14I; 3:26709714-26709714

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.244G>T; p.E82*; 3:26709916-26709916

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.527T>A; p.V176E; 3:26710199-26710199

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.15C>T; p.D5D; 3:26709687-26709687

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.15C>T; p.D5D; 3:26709687-26709687

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.237T>C; p.I79I; 3:26709909-26709909

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.726G>C; p.L242L; 3:26710398-26710398

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.522G>A; p.T174T; 3:26710194-26710194

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.337G>A; p.E113K; 3:26710009-26710009

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.364G>A; p.D122N; 3:26710036-26710036

 skinmalignant_melanomaSubstitution - Missense

c.595A>T; p.K199*; 3:26710267-26710267

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.574G>A; p.A192T; 3:26710246-26710246

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.574G>A; p.A192T; 3:26710246-26710246

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.360G>T; p.L120F; 3:26710032-26710032

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.396C>T; p.A132A; 3:26710068-26710068

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.477C>A; p.S159R; 3:26710149-26710149

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.614C>T; p.A205V; 3:26710286-26710286

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.380G>C; p.S127T; 3:26710052-26710052

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.659A>G; p.Y220C; 3:26710331-26710331

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.81C>G; p.C27W; 3:26709753-26709753

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.755C>A; p.P252H; 3:26710427-26710427

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.238C>T; p.P80S; 3:26709910-26709910

 skinmalignant_melanomaSubstitution - Missense

c.240C>T; p.P80P; 3:26709912-26709912

 skin; upper_legmalignant_melanomaSubstitution - coding silent

c.240C>T; p.P80P; 3:26709912-26709912

 skinmalignant_melanomaSubstitution - coding silent

c.521C>A; p.T174K; 3:26710193-26710193

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.639G>C; p.W213C; 3:26710311-26710311

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.238C>T; p.P80S; 3:26709910-26709910

 skinmalignant_melanomaSubstitution - Missense

c.410A>C; p.K137T; 3:26710082-26710082

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.282C>A; p.N94K; 3:26709954-26709954

 skinmalignant_melanomaSubstitution - Missense

c.722C>T; p.S241F; 3:26710394-26710394

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.120T>G; p.C40W; 3:26709792-26709792

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.211C>T; p.L71L; 3:26709883-26709883

 skinmalignant_melanomaSubstitution - coding silent

c.32C>T; p.S11F; 3:26709704-26709704

 skinmalignant_melanomaSubstitution - Missense

c.32C>T; p.S11F; 3:26709704-26709704

 skinmalignant_melanomaSubstitution - Missense

c.244G>A; p.E82K; 3:26709916-26709916

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.244G>A; p.E82K; 3:26709916-26709916

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.244G>A; p.E82K; 3:26709916-26709916

 skinmalignant_melanomaSubstitution - Missense

c.36C>A; p.L12L; 3:26709708-26709708

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.244G>A; p.E82K; 3:26709916-26709916

 skinmalignant_melanomaSubstitution - Missense

c.748G>A; p.D250N; 3:26710420-26710420

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.748G>A; p.D250N; 3:26710420-26710420

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.144C>T; p.V48V; 3:26709816-26709816

 skinmalignant_melanomaSubstitution - coding silent

c.310G>A; p.D104N; 3:26709982-26709982

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.72G>A; p.M24I; 3:26709744-26709744

 skinmalignant_melanomaSubstitution - Missense

c.202T>G; p.L68V; 3:26709874-26709874

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.202T>G; p.L68V; 3:26709874-26709874

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.35T>C; p.L12P; 3:26709707-26709707

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.167A>T; p.K56M; 3:26709839-26709839

 thyroidother; neoplasmSubstitution - Missense

c.626C>T; p.T209I; 3:26710298-26710298

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.738G>A; p.Q246Q; 3:26710410-26710410

 skinmalignant_melanomaSubstitution - coding silent

c.609T>A; p.D203E; 3:26710281-26710281

 skin; extremitymalignant_melanomaSubstitution - Missense

c.122C>T; p.S41F; 3:26709794-26709794

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.656C>T; p.S219L; 3:26710328-26710328

 skinmalignant_melanomaSubstitution - Missense

c.193G>A; p.E65K; 3:26709865-26709865

 skinmalignant_melanomaSubstitution - Missense

c.85C>T; p.H29Y; 3:26709757-26709757

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.348G>A; p.Q116Q; 3:26710020-26710020

 skinmalignant_melanomaSubstitution - coding silent

c.348G>A; p.Q116Q; 3:26710020-26710020

 skinmalignant_melanomaSubstitution - coding silent

c.189T>A; p.P63P; 3:26709861-26709861

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.363C>T; p.S121S; 3:26710035-26710035

 pancreasNSSubstitution - coding silent

c.595delA; p.T201fs*17; 3:26710267-26710267

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.595delA; p.T201fs*17; 3:26710267-26710267

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.595delA; p.T201fs*17; 3:26710267-26710267

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.595delA; p.T201fs*17; 3:26710267-26710267

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.595delA; p.T201fs*17; 3:26710267-26710267

 haematopoietic_and_lymphoid_tissue; spleenlymphoid_neoplasm; marginal_zone_lymphomaDeletion - Frameshift

c.595delA; p.T201fs*17; 3:26710267-26710267

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.135T>C; p.G45G; 3:26709807-26709807

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.766A>T; p.S256C; 3:26710438-26710438

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.482C>T; p.A161V; 3:26710154-26710154

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.177T>G; p.P59P; 3:26709849-26709849

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.309C>T; p.I103I; 3:26709981-26709981

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.697C>T; p.R233W; 3:26710369-26710369

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.270G>A; p.L90L; 3:26709942-26709942

 breastcarcinomaSubstitution - coding silent

c.29G>A; p.R10H; 3:26709701-26709701

 pancreasNSSubstitution - Missense

c.557T>C; p.L186P; 3:26710229-26710229

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.169G>A; p.E57K; 3:26709841-26709841

 skinmalignant_melanomaSubstitution - Missense

c.169G>A; p.E57K; 3:26709841-26709841

 skinmalignant_melanomaSubstitution - Missense

c.169G>A; p.E57K; 3:26709841-26709841

 skinmalignant_melanomaSubstitution - Missense

c.169G>A; p.E57K; 3:26709841-26709841

 skinmalignant_melanomaSubstitution - Missense

c.169G>A; p.E57K; 3:26709841-26709841

 skinmalignant_melanomaSubstitution - Missense

c.293A>T; p.N98I; 3:26709965-26709965

 skin; extremitymalignant_melanomaSubstitution - Missense

c.723C>T; p.S241S; 3:26710395-26710395

 skinmalignant_melanomaSubstitution - coding silent

c.709G>A; p.E237K; 3:26710381-26710381

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.158C>A; p.A53E; 3:26709830-26709830

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.350C>A; p.T117N; 3:26710022-26710022

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.151A>G; p.S51G; 3:26709823-26709823

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.573C>T; p.D191D; 3:26710245-26710245

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.573C>T; p.D191D; 3:26710245-26710245

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.778T>C; p.*260Q; 3:26710450-26710450

 endometriumcarcinoma; endometrioid_carcinomaNonstop extension

c.249T>G; p.I83M; 3:26709921-26709921

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.331G>A; p.V111I; 3:26710003-26710003

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.651G>A; p.V217V; 3:26710323-26710323

 skinmalignant_melanomaSubstitution - coding silent

c.287C>A; p.S96Y; 3:26709959-26709959

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.107A>T; p.K36M; 3:26709779-26709779

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.604A>G; p.T202A; 3:26710276-26710276

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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