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

Basic Information

Gene ID

2587

Name

GALR1

Synonymous

galanin receptor 1;GALR1;galanin receptor 1

Definition

GAL1-R|GALR-1|galanin receptor type 1

Position

18q23

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.443T>C; p.V148A; 18:77250991-77250991

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.192C>A; p.G64G; 18:77250740-77250740

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.455C>T; p.A152V; 18:77251003-77251003

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.392T>G; p.V131G; 18:77250940-77250940

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.865C>T; p.H289Y; 18:77268717-77268717

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.264C>T; p.C88C; 18:77250812-77250812

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.615C>T; p.F205F; 18:77251163-77251163

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.615C>T; p.F205F; 18:77251163-77251163

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.615C>T; p.F205F; 18:77251163-77251163

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.140G>T; p.G47V; 18:77250688-77250688

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.615C>T; p.F205F; 18:77251163-77251163

 skinmalignant_melanomaSubstitution - coding silent

c.398G>A; p.R133H; 18:77250946-77250946

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.529T>C; p.F177L; 18:77251077-77251077

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.283G>A; p.V95M; 18:77250831-77250831

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.764T>G; p.V255G; 18:77268616-77268616

 breastcarcinomaSubstitution - Missense

c.862G>A; p.A288T; 18:77268714-77268714

 breastcarcinomaSubstitution - Missense

c.862G>A; p.A288T; 18:77268714-77268714

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1048T>C; p.*350R; 18:77268900-77268900

 stomachcarcinoma; adenocarcinomaNonstop extension

c.538C>T; p.R180C; 18:77251086-77251086

 stomachadenocarcinomaSubstitution - Missense

c.758T>C; p.V253A; 18:77268610-77268610

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.276G>T; p.Q92H; 18:77250824-77250824

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.270C>A; p.P90P; 18:77250818-77250818

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.981C>A; p.H327Q; 18:77268833-77268833

 livercarcinomaSubstitution - Missense

c.1047G>A; p.V349V; 18:77268899-77268899

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.666+3G>A; p.?; 18:77251217-77251217

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaUnknown

c.174G>A; p.L58L; 18:77250722-77250722

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.866A>G; p.H289R; 18:77268718-77268718

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.448C>T; p.R150C; 18:77250996-77250996

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.866A>G; p.H289R; 18:77268718-77268718

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.972A>G; p.K324K; 18:77268824-77268824

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.623G>A; p.G208D; 18:77251171-77251171

 skinmalignant_melanomaSubstitution - Missense

c.577G>A; p.D193N; 18:77251125-77251125

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.110T>C; p.L37P; 18:77250658-77250658

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.977C>T; p.S326L; 18:77268829-77268829

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.454G>A; p.A152T; 18:77251002-77251002

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.352T>A; p.S118T; 18:77250900-77250900

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.425G>A; p.R142H; 18:77250973-77250973

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.425G>A; p.R142H; 18:77250973-77250973

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.513C>T; p.A171A; 18:77251061-77251061

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasmSubstitution - coding silent

c.513C>T; p.A171A; 18:77251061-77251061

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - coding silent

c.169G>A; p.V57M; 18:77250717-77250717

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.864C>T; p.A288A; 18:77268716-77268716

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.288C>T; p.Y96Y; 18:77250836-77250836

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.434_435CC>TT; p.S145F; 18:77250982-77250983

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.710A>C; p.K237T; 18:77256201-77256201

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.520C>T; p.Q174*; 18:77251068-77251068

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.911C>T; p.A304V; 18:77268763-77268763

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.932G>A; p.R311K; 18:77268784-77268784

 skinmalignant_melanomaSubstitution - Missense

c.967C>T; p.R323C; 18:77268819-77268819

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.967C>T; p.R323C; 18:77268819-77268819

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.967C>T; p.R323C; 18:77268819-77268819

 skinmalignant_melanomaSubstitution - Missense

c.976T>C; p.S326P; 18:77268828-77268828

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.698A>G; p.N233S; 18:77256189-77256189

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.591G>T; p.K197N; 18:77251139-77251139

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.432C>A; p.S144S; 18:77250980-77250980

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.789C>G; p.H263Q; 18:77268641-77268641

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.997G>T; p.E333*; 18:77268849-77268849

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.824T>C; p.F275S; 18:77268676-77268676

 skinmalignant_melanomaSubstitution - Missense

c.72G>A; p.G24G; 18:77250620-77250620

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.349G>A; p.V117M; 18:77250897-77250897

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.795C>T; p.I265I; 18:77268647-77268647

 skinmalignant_melanomaSubstitution - coding silent

c.238G>A; p.A80T; 18:77250786-77250786

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.463G>A; p.G155S; 18:77251011-77251011

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.343T>C; p.F115L; 18:77250891-77250891

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.640C>T; p.L214L; 18:77251188-77251188

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.675T>C; p.N225N; 18:77256166-77256166

 livercarcinomaSubstitution - coding silent

c.771A>G; p.G257G; 18:77268623-77268623

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.817G>A; p.G273R; 18:77268669-77268669

 skinmalignant_melanomaSubstitution - Missense

c.876G>A; p.A292A; 18:77268728-77268728

 skinmalignant_melanomaSubstitution - coding silent

c.441G>C; p.R147S; 18:77250989-77250989

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.325A>G; p.K109E; 18:77250873-77250873

 breastcarcinomaSubstitution - Missense

c.133G>A; p.A45T; 18:77250681-77250681

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.37G>A; p.A13T; 18:77250585-77250585

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.419C>T; p.S140L; 18:77250967-77250967

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.157C>A; p.L53I; 18:77250705-77250705

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.511G>A; p.A171T; 18:77251059-77251059

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.306G>T; p.V102V; 18:77250854-77250854

 breastcarcinomaSubstitution - coding silent

c.968G>A; p.R323H; 18:77268820-77268820

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.384G>A; p.A128A; 18:77250932-77250932

 prostatecarcinomaSubstitution - coding silent

c.190G>T; p.G64C; 18:77250738-77250738

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.611C>G; p.T204S; 18:77251159-77251159

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.141T>C; p.G47G; 18:77250689-77250689

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.141T>C; p.G47G; 18:77250689-77250689

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.141T>C; p.G47G; 18:77250689-77250689

 thyroidother; neoplasmSubstitution - coding silent

c.141T>C; p.G47G; 18:77250689-77250689

 thyroidother; neoplasmSubstitution - coding silent

c.621C>T; p.F207F; 18:77251169-77251169

 skinmalignant_melanomaSubstitution - coding silent

c.180C>T; p.R60R; 18:77250728-77250728

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.180C>T; p.R60R; 18:77250728-77250728

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.180C>T; p.R60R; 18:77250728-77250728

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.850T>C; p.F284L; 18:77268702-77268702

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.872T>A; p.L291Q; 18:77268724-77268724

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.669C>T; p.V223V; 18:77256160-77256160

 skinmalignant_melanomaSubstitution - coding silent

c.584G>A; p.R195H; 18:77251132-77251132

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.413T>C; p.V138A; 18:77250961-77250961

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.443T>A; p.V148E; 18:77250991-77250991

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.708G>A; p.K236K; 18:77256199-77256199

 skinmalignant_melanomaSubstitution - coding silent

c.708G>A; p.K236K; 18:77256199-77256199

 skinmalignant_melanomaSubstitution - coding silent

c.241G>A; p.D81N; 18:77250789-77250789

 skinmalignant_melanomaSubstitution - Missense

c.70G>A; p.G24R; 18:77250618-77250618

 skinmalignant_melanomaSubstitution - Missense

c.142G>A; p.V48M; 18:77250690-77250690

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.142G>A; p.V48M; 18:77250690-77250690

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.258C>G; p.L86L; 18:77250806-77250806

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.102C>T; p.F34F; 18:77250650-77250650

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.102C>T; p.F34F; 18:77250650-77250650

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.258C>G; p.L86L; 18:77250806-77250806

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.258C>G; p.L86L; 18:77250806-77250806

 breastcarcinomaSubstitution - coding silent

c.313G>A; p.A105T; 18:77250861-77250861

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.880A>T; p.S294C; 18:77268732-77268732

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.268C>T; p.P90S; 18:77250816-77250816

 skin; trunkmalignant_melanomaSubstitution - Missense

c.715G>C; p.E239Q; 18:77256206-77256206

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.435C>T; p.S145S; 18:77250983-77250983

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1050A>C; p.*350C; 18:77268902-77268902

 lungcarcinoma; adenocarcinomaNonstop extension

c.580_581CC>AA; p.P194N; 18:77251128-77251129

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.52delC; p.A20fs*23; 18:77250600-77250600

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.424C>T; p.R142C; 18:77250972-77250972

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.776C>G; p.S259C; 18:77268628-77268628

 central_nervous_system; braingliomaSubstitution - Missense

c.610A>C; p.T204P; 18:77251158-77251158

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.282C>A; p.T94T; 18:77250830-77250830

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

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