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

Basic Information

Gene ID

338442

Name

HCAR2

Synonymous

hydroxycarboxylic acid receptor 2;HCAR2;hydroxycarboxylic acid receptor 2

Definition

G protein-coupled receptor 109A|G protein-coupled receptor HM74a|G-protein coupled receptor 109A|G-protein coupled receptor HM74A|hydroxy-carboxylic acid receptor 2|niacin receptor 1|nicotinic acid receptor

Position

12q24.31

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 0.11.

The copy number variations for various cancers

Top

There is no record for HCAR2

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.974G>A; p.R325H; 12:122702310-122702310

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.783G>A; p.S261S; 12:122702501-122702501

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.901T>C; p.F301L; 12:122702383-122702383

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.427A>T; p.T143S; 12:122702857-122702857

 skinmalignant_melanomaSubstitution - Missense

c.598C>T; p.P200S; 12:122702686-122702686

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.139C>T; p.L47F; 12:122703145-122703145

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.16C>A; p.L6M; 12:122703268-122703268

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.769C>T; p.L257F; 12:122702515-122702515

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.690C>T; p.I230I; 12:122702594-122702594

 breastcarcinomaSubstitution - coding silent

c.358G>A; p.V120M; 12:122702926-122702926

 skinmalignant_melanomaSubstitution - Missense

c.274G>A; p.D92N; 12:122703010-122703010

 skinmalignant_melanomaSubstitution - Missense

c.536G>A; p.S179N; 12:122702748-122702748

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.530G>A; p.C177Y; 12:122702754-122702754

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.185G>A; p.S62N; 12:122703099-122703099

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1084T>C; p.S362P; 12:122702200-122702200

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.352C>T; p.L118F; 12:122702932-122702932

 skinmalignant_melanomaSubstitution - Missense

c.424C>T; p.R142W; 12:122702860-122702860

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.789G>A; p.T263T; 12:122702495-122702495

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.951G>A; p.M317I; 12:122702333-122702333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.951G>A; p.M317I; 12:122702333-122702333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.951G>A; p.M317I; 12:122702333-122702333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.951G>A; p.M317I; 12:122702333-122702333

 thyroidother; neoplasmSubstitution - Missense

c.951G>A; p.M317I; 12:122702333-122702333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.951G>A; p.M317I; 12:122702333-122702333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.951G>A; p.M317I; 12:122702333-122702333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.951G>A; p.M317I; 12:122702333-122702333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.951G>A; p.M317I; 12:122702333-122702333

 thyroidother; neoplasmSubstitution - Missense

c.473T>A; p.L158Q; 12:122702811-122702811

 skinmalignant_melanomaSubstitution - Missense

c.1032G>C; p.A344A; 12:122702252-122702252

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.584T>C; p.L195P; 12:122702700-122702700

 skinmalignant_melanomaSubstitution - Missense

c.247C>T; p.L83L; 12:122703037-122703037

 skinmalignant_melanomaSubstitution - coding silent

c.825G>A; p.A275A; 12:122702459-122702459

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.874G>A; p.V292M; 12:122702410-122702410

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.383G>A; p.R128Q; 12:122702901-122702901

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.469G>A; p.G157S; 12:122702815-122702815

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.190A>G; p.I64V; 12:122703094-122703094

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.549C>A; p.C183*; 12:122702735-122702735

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.741C>T; p.S247S; 12:122702543-122702543

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.188G>A; p.R63Q; 12:122703096-122703096

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.196C>T; p.L66L; 12:122703088-122703088

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.420C>T; p.S140S; 12:122702864-122702864

 skinmalignant_melanomaSubstitution - coding silent

c.465T>A; p.T155T; 12:122702819-122702819

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.18G>A; p.L6L; 12:122703266-122703266

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.18G>A; p.L6L; 12:122703266-122703266

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.213G>A; p.V71V; 12:122703071-122703071

 skinmalignant_melanomaSubstitution - coding silent

c.732_733CC>TT; p.L245F; 12:122702551-122702552

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.988G>A; p.E330K; 12:122702296-122702296

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.120C>T; p.F40F; 12:122703164-122703164

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.120C>T; p.F40F; 12:122703164-122703164

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.516C>T; p.G172G; 12:122702768-122702768

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1066T>A; p.S356T; 12:122702218-122702218

 ovaryother; neoplasmSubstitution - Missense

c.1066T>A; p.S356T; 12:122702218-122702218

 ovaryother; neoplasmSubstitution - Missense

c.809G>A; p.R270H; 12:122702475-122702475

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.931C>T; p.R311C; 12:122702353-122702353

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.931C>T; p.R311C; 12:122702353-122702353

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.931C>T; p.R311C; 12:122702353-122702353

 thyroidother; neoplasmSubstitution - Missense

c.931C>T; p.R311C; 12:122702353-122702353

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.931C>T; p.R311C; 12:122702353-122702353

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.931C>T; p.R311C; 12:122702353-122702353

 thyroidother; neoplasmSubstitution - Missense

c.931C>T; p.R311C; 12:122702353-122702353

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.121G>C; p.G41R; 12:122703163-122703163

 breastcarcinomaSubstitution - Missense

c.197T>A; p.L66Q; 12:122703087-122703087

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.915C>T; p.F305F; 12:122702369-122702369

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1048G>T; p.G350C; 12:122702236-122702236

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.980C>T; p.T327M; 12:122702304-122702304

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.905C>T; p.P302L; 12:122702379-122702379

 skinmalignant_melanomaSubstitution - Missense

c.83A>T; p.K28M; 12:122703201-122703201

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.321G>T; p.L107F; 12:122702963-122702963

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.321G>T; p.L107F; 12:122702963-122702963

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.83A>T; p.K28M; 12:122703201-122703201

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.9G>A; p.R3R; 12:122703275-122703275

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.436A>T; p.I146F; 12:122702848-122702848

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.663C>G; p.D221E; 12:122702621-122702621

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.324T>C; p.A108A; 12:122702960-122702960

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.324T>C; p.A108A; 12:122702960-122702960

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.304C>G; p.L102V; 12:122702980-122702980

 livercarcinomaSubstitution - Missense

c.131G>A; p.G44D; 12:122703153-122703153

 skinmalignant_melanomaSubstitution - Missense

c.17T>C; p.L6P; 12:122703267-122703267

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.757C>T; p.R253C; 12:122702527-122702527

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.757C>T; p.R253C; 12:122702527-122702527

 breastcarcinomaSubstitution - Missense

c.601delC; p.L201fs*85; 12:122702683-122702683

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.495G>A; p.K165K; 12:122702789-122702789

 breastcarcinomaSubstitution - coding silent

c.812C>T; p.S271L; 12:122702472-122702472

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.780T>C; p.T260T; 12:122702504-122702504

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.780T>C; p.T260T; 12:122702504-122702504

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.189G>T; p.R63R; 12:122703095-122703095

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.900C>A; p.S300S; 12:122702384-122702384

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.751C>T; p.R251W; 12:122702533-122702533

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.281A>G; p.K94R; 12:122703003-122703003

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.794A>C; p.N265T; 12:122702490-122702490

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.196_197CT>TA; p.L66*; 12:122703087-122703088

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.582C>G; p.L194L; 12:122702702-122702702

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.63C>A; p.F21L; 12:122703221-122703221

 oesophaguscarcinomaSubstitution - Missense

c.65G>A; p.R22Q; 12:122703219-122703219

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.498G>A; p.K166K; 12:122702786-122702786

 skinmalignant_melanomaSubstitution - coding silent

c.1029G>A; p.E343E; 12:122702255-122702255

 pancreascarcinomaSubstitution - coding silent

c.840C>G; p.L280L; 12:122702444-122702444

 breastcarcinomaSubstitution - coding silent

c.266G>C; p.R89T; 12:122703018-122703018

 pancreasother; cystic_tumourSubstitution - Missense

c.109G>C; p.E37Q; 12:122703175-122703175

 oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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