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

Basic Information

Gene ID

26585

Name

GREM1

Synonymous

gremlin 1, DAN family BMP antagonist;GREM1;gremlin 1, DAN family BMP antagonist

Definition

DAN domain family member 2|cell proliferation-inducing gene 2 protein|colorectal adenoma and carcinoma 1|cysteine knot superfamily 1, BMP antagonist 1|down-regulated in Mos-transformed cells protein|gremlin 1, cysteine knot superfamily, homolog|gremlin 1-

Position

15q13.3

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 0.17.

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.347G>A; p.R116H; 15:32731037-32731037

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.240C>G; p.A80A; 15:32730930-32730930

 livercarcinomaSubstitution - coding silent

c.240C>G; p.A80A; 15:32730930-32730930

 livercarcinomaSubstitution - coding silent

c.88C>G; p.Q30E; 15:32730778-32730778

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.395G>A; p.R132Q; 15:32731085-32731085

 prostatecarcinomaSubstitution - Missense

c.271C>T; p.R91*; 15:32730961-32730961

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.87C>T; p.S29S; 15:32730777-32730777

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.11C>A; p.T4K; 15:32730701-32730701

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.322T>A; p.C108S; 15:32731012-32731012

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.54G>T; p.L18L; 15:32730744-32730744

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.54G>T; p.L18L; 15:32730744-32730744

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.72G>A; p.G24G; 15:32730762-32730762

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.394C>T; p.R132W; 15:32731084-32731084

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.95C>T; p.A32V; 15:32730785-32730785

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.103C>T; p.P35S; 15:32730793-32730793

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.93T>G; p.G31G; 15:32730783-32730783

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.187G>A; p.G63R; 15:32730877-32730877

 skinmalignant_melanomaSubstitution - Missense

c.78G>A; p.K26K; 15:32730768-32730768

 skinmalignant_melanomaSubstitution - coding silent

c.211G>A; p.E71K; 15:32730901-32730901

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.168G>A; p.R56R; 15:32730858-32730858

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.186A>T; p.Q62H; 15:32730876-32730876

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.67G>A; p.E23K; 15:32730757-32730757

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.523C>A; p.Q175K; 15:32731213-32731213

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.438C>A; p.P146P; 15:32731128-32731128

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.333C>A; p.R111R; 15:32731023-32731023

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.377A>T; p.Y126F; 15:32731067-32731067

 thyroidother; neoplasmSubstitution - Missense

c.99delC; p.P35fs*49; 15:32730789-32730789

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.346C>A; p.R116S; 15:32731036-32731036

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.492T>A; p.P164P; 15:32731182-32731182

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.237G>T; p.E79D; 15:32730927-32730927

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.410C>T; p.S137F; 15:32731100-32731100

 skinmalignant_melanomaSubstitution - Missense

c.410C>T; p.S137F; 15:32731100-32731100

 skin; solemalignant_melanoma; acral_lentiginousSubstitution - Missense

c.332G>C; p.R111P; 15:32731022-32731022

 breastcarcinomaSubstitution - Missense

c.111C>T; p.D37D; 15:32730801-32730801

 livercarcinomaSubstitution - coding silent

c.111C>T; p.D37D; 15:32730801-32730801

 livercarcinomaSubstitution - coding silent

c.490C>T; p.P164S; 15:32731180-32731180

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.461T>C; p.V154A; 15:32731151-32731151

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

')