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

Basic Information

Gene ID

81848

Name

SPRY4

Synonymous

sprouty homolog 4 (Drosophila);SPRY4;sprouty homolog 4 (Drosophila)

Definition

protein sprouty homolog 4

Position

5q31.3

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

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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

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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 0.07.

The copy number variations for various cancers

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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.444A>T; p.S148S; 5:142314734-142314734

breastcarcinomaSubstitution - coding silent

c.903G>A; p.T301T; 5:142314275-142314275

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.903G>A; p.T301T; 5:142314275-142314275

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.868C>T; p.R290C; 5:142314310-142314310

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.338T>A; p.I113N; 5:142314840-142314840

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.765C>T; p.C255C; 5:142314413-142314413

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.510G>A; p.A170A; 5:142314668-142314668

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.45C>T; p.S15S; 5:142315133-142315133

skinmalignant_melanomaSubstitution - coding silent

c.45C>T; p.S15S; 5:142315133-142315133

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasmSubstitution - coding silent

c.352C>T; p.R118C; 5:142314826-142314826

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.923C>G; p.A308G; 5:142314255-142314255

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.811C>T; p.L271L; 5:142314367-142314367

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.643A>G; p.T215A; 5:142314535-142314535

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.276C>T; p.G92G; 5:142314902-142314902

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.900C>T; p.H300H; 5:142314278-142314278

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.79C>T; p.P27S; 5:142315099-142315099

skinmalignant_melanomaSubstitution - Missense

c.683G>A; p.G228D; 5:142314495-142314495

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.158G>T; p.R53L; 5:142315020-142315020

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.158G>T; p.R53L; 5:142315020-142315020

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.662C>T; p.T221M; 5:142314516-142314516

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.327C>T; p.T109T; 5:142314851-142314851

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.426C>T; p.P142P; 5:142314752-142314752

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.203C>T; p.T68I; 5:142314975-142314975

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.367A>G; p.S123G; 5:142314811-142314811

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.632G>T; p.C211F; 5:142314546-142314546

lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.632G>T; p.C211F; 5:142314546-142314546

lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.299C>T; p.T100M; 5:142314879-142314879

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.153C>G; p.H51Q; 5:142315025-142315025

ovaryother; neoplasmSubstitution - Missense

c.769C>T; p.R257C; 5:142314409-142314409

breastcarcinomaSubstitution - Missense

c.427G>T; p.V143L; 5:142314751-142314751

urinary_tract; bladdercarcinomaSubstitution - Missense

c.681G>T; p.Q227H; 5:142314497-142314497

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.610G>A; p.V204I; 5:142314568-142314568

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.519C>T; p.P173P; 5:142314659-142314659

breastcarcinomaSubstitution - coding silent

c.157C>T; p.R53W; 5:142315021-142315021

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.157C>T; p.R53W; 5:142315021-142315021

genital_tract; extragonadalgerm_cell_tumour; yolk_sac_tumourSubstitution - Missense

c.796G>A; p.V266M; 5:142314382-142314382

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.513C>T; p.V171V; 5:142314665-142314665

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.513C>T; p.V171V; 5:142314665-142314665

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.883G>A; p.G295S; 5:142314295-142314295

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.349G>A; p.G117R; 5:142314829-142314829

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.349G>A; p.G117R; 5:142314829-142314829

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.855G>T; p.Q285H; 5:142314323-142314323

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.446C>G; p.P149R; 5:142314732-142314732

genital_tract; extragonadalgerm_cell_tumour; seminomaSubstitution - Missense

c.647T>C; p.L216P; 5:142314531-142314531

livercarcinomaSubstitution - Missense

c.647T>C; p.L216P; 5:142314531-142314531

livercarcinomaSubstitution - Missense

c.647T>C; p.L216P; 5:142314531-142314531

livercarcinomaSubstitution - Missense

c.647T>C; p.L216P; 5:142314531-142314531

livercarcinomaSubstitution - Missense

c.212T>C; p.V71A; 5:142314966-142314966

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.738C>A; p.P246P; 5:142314440-142314440

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.467C>T; p.P156L; 5:142314711-142314711

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.467C>T; p.P156L; 5:142314711-142314711

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.128C>G; p.P43R; 5:142315050-142315050

livercarcinomaSubstitution - Missense

c.304G>A; p.A102T; 5:142314874-142314874

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.142C>T; p.R48W; 5:142315036-142315036

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.400C>T; p.L134F; 5:142314778-142314778

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.380_382delGCA; p.S127delS; 5:142314796-142314798

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.380_382delGCA; p.S127delS; 5:142314796-142314798

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.348C>T; p.S116S; 5:142314830-142314830

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.348C>T; p.S116S; 5:142314830-142314830

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.949A>G; p.R317G; 5:142314229-142314229

pancreascarcinomaSubstitution - Missense

c.505C>T; p.P169S; 5:142314673-142314673

skinmalignant_melanomaSubstitution - Missense

c.158G>A; p.R53Q; 5:142315020-142315020

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.795C>T; p.S265S; 5:142314383-142314383

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.795C>T; p.S265S; 5:142314383-142314383

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.546C>T; p.C182C; 5:142314632-142314632

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.328C>T; p.H110Y; 5:142314850-142314850

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.538T>G; p.L180V; 5:142314640-142314640

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.726C>T; p.C242C; 5:142314452-142314452

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.159G>A; p.R53R; 5:142315019-142315019

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.44C>T; p.S15F; 5:142315134-142315134

skinmalignant_melanomaSubstitution - Missense

c.589delC; p.R197fs*85; 5:142314589-142314589

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.589delC; p.R197fs*85; 5:142314589-142314589

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.589delC; p.R197fs*85; 5:142314589-142314589

pancreascarcinoma; ductal_carcinomaDeletion - Frameshift


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