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

Basic Information

Gene ID

4033

Name

LRMP

Synonymous

lymphoid-restricted membrane protein;LRMP;lymphoid-restricted membrane protein

Definition

protein Jaw1

Position

12p12.1

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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.15.

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.874C>T; p.P292S; 12:25101310-25101310

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1034G>A; p.R345K; 12:25104046-25104046

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1258T>A; p.Y420N; 12:25107818-25107818

 livercarcinomaSubstitution - Missense

c.1486C>T; p.P496S; 12:25108046-25108046

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1258T>A; p.Y420N; 12:25107818-25107818

 livercarcinomaSubstitution - Missense

c.1210C>T; p.L404F; 12:25107004-25107004

 skinmalignant_melanomaSubstitution - Missense

c.705G>A; p.V235V; 12:25097008-25097008

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.546C>T; p.S182S; 12:25090137-25090137

 skinmalignant_melanomaSubstitution - coding silent

c.471A>G; p.E157E; 12:25090062-25090062

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1437G>A; p.T479T; 12:25107997-25107997

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.282C>A; p.D94E; 12:25083460-25083460

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1061C>G; p.S354*; 12:25104375-25104375

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.480A>T; p.R160S; 12:25090071-25090071

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.441T>C; p.T147T; 12:25089766-25089766

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.124A>G; p.I42V; 12:25079450-25079450

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.124A>G; p.I42V; 12:25079450-25079450

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.969A>G; p.L323L; 12:25103872-25103872

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1379G>A; p.G460D; 12:25107939-25107939

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.590G>C; p.C197S; 12:25090181-25090181

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.832G>T; p.E278*; 12:25101268-25101268

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1282A>G; p.T428A; 12:25107842-25107842

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.243A>G; p.Q81Q; 12:25079762-25079762

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.548G>A; p.R183H; 12:25090139-25090139

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1149-1G>T; p.?; 12:25106942-25106942

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.485C>T; p.S162F; 12:25090076-25090076

 skinmalignant_melanomaSubstitution - Missense

c.784G>A; p.V262I; 12:25101220-25101220

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1204C>T; p.P402S; 12:25106998-25106998

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.242A>G; p.Q81R; 12:25079761-25079761

 livercarcinomaSubstitution - Missense

c.242A>G; p.Q81R; 12:25079761-25079761

 livercarcinomaSubstitution - Missense

c.728G>A; p.G243E; 12:25097031-25097031

 skinmalignant_melanomaSubstitution - Missense

c.389C>T; p.P130L; 12:25089629-25089629

 skinmalignant_melanomaSubstitution - Missense

c.701G>A; p.R234Q; 12:25097004-25097004

 skinmalignant_melanomaSubstitution - Missense

c.728G>A; p.G243E; 12:25097031-25097031

 skinmalignant_melanomaSubstitution - Missense

c.39A>G; p.E13E; 12:25079258-25079258

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.475C>A; p.L159I; 12:25090066-25090066

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.73G>A; p.E25K; 12:25079399-25079399

 skin; upper_backmalignant_melanomaSubstitution - Missense

c.932A>G; p.K311R; 12:25102240-25102240

 skinmalignant_melanomaSubstitution - Missense

c.1008G>A; p.M336I; 12:25104020-25104020

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.231G>A; p.T77T; 12:25079750-25079750

 skinmalignant_melanomaSubstitution - coding silent

c.231G>A; p.T77T; 12:25079750-25079750

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1141G>A; p.E381K; 12:25104455-25104455

 skinmalignant_melanomaSubstitution - Missense

c.155T>A; p.L52Q; 12:25079674-25079674

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.106T>G; p.S36A; 12:25079432-25079432

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.78T>G; p.Y26*; 12:25079404-25079404

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.787G>A; p.E263K; 12:25101223-25101223

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1054T>C; p.L352L; 12:25104368-25104368

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.926A>T; p.N309I; 12:25102234-25102234

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.506G>T; p.W169L; 12:25090097-25090097

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.343G>A; p.E115K; 12:25088127-25088127

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.950G>A; p.R317K; 12:25103853-25103853

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.946C>T; p.R316*; 12:25103849-25103849

 pancreascarcinomaSubstitution - Nonsense

c.946C>T; p.R316*; 12:25103849-25103849

 pancreascarcinomaSubstitution - Nonsense

c.946C>T; p.R316*; 12:25103849-25103849

 pancreascarcinomaSubstitution - Nonsense

c.245G>A; p.G82D; 12:25083423-25083423

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.126A>G; p.I42M; 12:25079452-25079452

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.371G>A; p.G124E; 12:25088155-25088155

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1425G>A; p.E475E; 12:25107985-25107985

 skinmalignant_melanomaSubstitution - coding silent

c.886G>A; p.D296N; 12:25101322-25101322

 skinmalignant_melanomaSubstitution - Missense

c.582C>T; p.I194I; 12:25090173-25090173

 skinmalignant_melanomaSubstitution - coding silent

c.1172C>T; p.S391F; 12:25106966-25106966

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1048C>T; p.R350C; 12:25104362-25104362

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1261G>T; p.D421Y; 12:25107821-25107821

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1021C>T; p.R341*; 12:25104033-25104033

 skinmalignant_melanomaSubstitution - Nonsense

c.844G>T; p.V282F; 12:25101280-25101280

 breastcarcinomaSubstitution - Missense

c.496A>T; p.K166*; 12:25090087-25090087

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.932A>T; p.K311M; 12:25102240-25102240

 stomachadenocarcinomaSubstitution - Missense

c.42C>T; p.R14R; 12:25079261-25079261

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.72G>A; p.R24R; 12:25079398-25079398

 skinmalignant_melanomaSubstitution - coding silent

c.247A>G; p.T83A; 12:25083425-25083425

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1452C>A; p.I484I; 12:25108012-25108012

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.310A>C; p.N104H; 12:25083488-25083488

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1338A>C; p.A446A; 12:25107898-25107898

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.555G>T; p.L185F; 12:25090146-25090146

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1033A>G; p.R345G; 12:25104045-25104045

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1434G>C; p.W478C; 12:25107994-25107994

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.811A>G; p.K271E; 12:25101247-25101247

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1033A>G; p.R345G; 12:25104045-25104045

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1417C>T; p.Q473*; 12:25107977-25107977

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1322T>C; p.L441P; 12:25107882-25107882

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.325G>A; p.E109K; 12:25088109-25088109

 skinmalignant_melanomaSubstitution - Missense

c.18T>A; p.S6R; 12:25069425-25069425

 thyroidother; neoplasmSubstitution - Missense

c.1177G>A; p.E393K; 12:25106971-25106971

 skinmalignant_melanomaSubstitution - Missense

c.421C>G; p.L141V; 12:25089661-25089661

 thyroidother; neoplasmSubstitution - Missense

c.110C>T; p.S37L; 12:25079436-25079436

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.110C>T; p.S37L; 12:25079436-25079436

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.444T>A; p.S148S; 12:25089769-25089769

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.1362G>C; p.L454F; 12:25107922-25107922

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.429A>T; p.Q143H; 12:25089669-25089669

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1255G>A; p.V419I; 12:25107049-25107049

 skinmalignant_melanomaSubstitution - Missense

c.1156G>A; p.D386N; 12:25106950-25106950

 skinmalignant_melanomaSubstitution - Missense

c.1402G>A; p.D468N; 12:25107962-25107962

 pancreascarcinomaSubstitution - Missense

c.259C>A; p.H87N; 12:25083437-25083437

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1231C>A; p.P411T; 12:25107025-25107025

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.800G>A; p.R267K; 12:25101236-25101236

 skinmalignant_melanomaSubstitution - Missense

c.1146A>G; p.L382L; 12:25104460-25104460

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.318A>G; p.E106E; 12:25088102-25088102

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1319_1320CC>TT; p.A440V; 12:25107879-25107880

 skin; neckmalignant_melanomaSubstitution - Missense

c.230C>T; p.T77M; 12:25079749-25079749

 pancreascarcinomaSubstitution - Missense

c.479G>T; p.R160I; 12:25090070-25090070

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1030A>G; p.R344G; 12:25104042-25104042

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1008G>C; p.M336I; 12:25104020-25104020

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.43G>A; p.V15M; 12:25079262-25079262

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.202G>A; p.E68K; 12:25079721-25079721

 livercarcinomaSubstitution - Missense

c.207G>A; p.E69E; 12:25079726-25079726

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.570G>A; p.L190L; 12:25090161-25090161

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.206A>T; p.E69V; 12:25079725-25079725

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1479C>G; p.H493Q; 12:25108039-25108039

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.25G>A; p.E9K; 12:25079244-25079244

 skinmalignant_melanomaSubstitution - Missense

c.185A>T; p.N62I; 12:25079704-25079704

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

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