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

Basic Information

Gene ID

9052

Name

GPRC5A

Synonymous

G protein-coupled receptor, class C, group 5, member A;GPRC5A;G protein-coupled receptor, class C, group 5, member A

Definition

G protein-coupled receptor, family C, group 5, member A|G-protein coupled receptor family C group 5 member A|TPA induced gene 1|orphan G-protein-coupling receptor PEIG-1|phorbol ester induced protein-1|retinoic acid induced 3|retinoic acid responsive|reti

Position

12p13.1

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.10.

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.733C>T; p.L245F; 12:12908982-12908982

 skinmalignant_melanomaSubstitution - Missense

c.712C>T; p.R238C; 12:12908961-12908961

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.945G>A; p.T315T; 12:12912106-12912106

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.289C>G; p.R97G; 12:12908538-12908538

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.149C>T; p.P50L; 12:12908398-12908398

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.370C>T; p.R124W; 12:12908619-12908619

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.370C>T; p.R124W; 12:12908619-12908619

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.355C>T; p.L119L; 12:12908604-12908604

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.371G>A; p.R124Q; 12:12908620-12908620

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.371G>A; p.R124Q; 12:12908620-12908620

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.90C>T; p.V30V; 12:12908339-12908339

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.414C>T; p.A138A; 12:12908663-12908663

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.216C>T; p.L72L; 12:12908465-12908465

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.216C>T; p.L72L; 12:12908465-12908465

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.216C>T; p.L72L; 12:12908465-12908465

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.741C>T; p.S247S; 12:12908990-12908990

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.719G>A; p.W240*; 12:12908968-12908968

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.472A>G; p.N158D; 12:12908721-12908721

 skinmalignant_melanomaSubstitution - Missense

c.537C>T; p.L179L; 12:12908786-12908786

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.587C>T; p.S196F; 12:12908836-12908836

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.484G>A; p.V162I; 12:12908733-12908733

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.540G>T; p.L180L; 12:12908789-12908789

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.636C>T; p.H212H; 12:12908885-12908885

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.305G>T; p.G102V; 12:12908554-12908554

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.366C>T; p.L122L; 12:12908615-12908615

 skinmalignant_melanomaSubstitution - coding silent

c.313T>G; p.F105V; 12:12908562-12908562

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1024G>A; p.A342T; 12:12912489-12912489

 stomachadenocarcinomaSubstitution - Missense

c.609C>T; p.F203F; 12:12908858-12908858

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.648G>A; p.T216T; 12:12908897-12908897

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.907G>C; p.E303Q; 12:12909156-12909156

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.318C>T; p.S106S; 12:12908567-12908567

 skinmalignant_melanomaSubstitution - coding silent

c.88G>A; p.V30I; 12:12908337-12908337

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.156C>T; p.L52L; 12:12908405-12908405

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.156C>T; p.L52L; 12:12908405-12908405

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.88G>A; p.V30I; 12:12908337-12908337

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.88G>A; p.V30I; 12:12908337-12908337

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1035C>T; p.S345S; 12:12912500-12912500

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.815G>A; p.R272Q; 12:12909064-12909064

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.815G>A; p.R272Q; 12:12909064-12909064

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.90_91CC>TT; p.(=); 12:12908339-12908340

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.383C>G; p.P128R; 12:12908632-12908632

 livercarcinomaSubstitution - Missense

c.651G>T; p.M217I; 12:12908900-12908900

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.523G>T; p.E175*; 12:12908772-12908772

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.700C>T; p.P234S; 12:12908949-12908949

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.156C>A; p.L52L; 12:12908405-12908405

 pancreascarcinomaSubstitution - coding silent

c.973C>T; p.Q325*; 12:12912134-12912134

 skinmalignant_melanomaSubstitution - Nonsense

c.329C>T; p.S110F; 12:12908578-12908578

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.111C>T; p.A37A; 12:12908360-12908360

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.111C>T; p.A37A; 12:12908360-12908360

 thyroidother; neoplasmSubstitution - coding silent

c.329C>T; p.S110F; 12:12908578-12908578

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.369C>T; p.V123V; 12:12908618-12908618

 skinmalignant_melanomaSubstitution - coding silent

c.1007C>A; p.S336Y; 12:12912472-12912472

 breastcarcinomaSubstitution - Missense

c.1063G>C; p.E355Q; 12:12912528-12912528

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.328T>A; p.S110T; 12:12908577-12908577

 breastcarcinomaSubstitution - Missense

c.580A>G; p.M194V; 12:12908829-12908829

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.376A>G; p.R126G; 12:12908625-12908625

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.753C>T; p.A251A; 12:12909002-12909002

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.597C>T; p.F199F; 12:12908846-12908846

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.270C>T; p.D90D; 12:12908519-12908519

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.183delG; p.R61fs*59; 12:12908432-12908432

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaDeletion - Frameshift

c.642C>T; p.Y214Y; 12:12908891-12908891

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.629G>A; p.G210E; 12:12908878-12908878

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.680G>T; p.W227L; 12:12908929-12908929

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1069A>G; p.S357G; 12:12912534-12912534

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.508G>C; p.A170P; 12:12908757-12908757

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.312C>T; p.L104L; 12:12908561-12908561

 skinmalignant_melanomaSubstitution - coding silent

c.771G>A; p.L257L; 12:12909020-12909020

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.184C>T; p.R62*; 12:12908433-12908433

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Nonsense

c.384C>T; p.P128P; 12:12908633-12908633

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.814C>T; p.R272*; 12:12909063-12909063

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.390C>T; p.S130S; 12:12908639-12908639

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.99G>A; p.T33T; 12:12908348-12908348

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.262G>A; p.G88R; 12:12908511-12908511

 skinmalignant_melanomaSubstitution - Missense

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