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

Basic Information

Gene ID

6424

Name

SFRP4

Synonymous

secreted frizzled-related protein 4;SFRP4;secreted frizzled-related protein 4

Definition

frizzled protein, human endometrium|secreted frizzled-related protein 4; secreted frizzled-related protein 4

Position

7p14.1

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 0.02.

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.73G>A; p.E25K; 7:37916465-37916465

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.231C>G; p.L77L; 7:37916307-37916307

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.376G>T; p.D126Y; 7:37916162-37916162

 oesophaguscarcinomaSubstitution - Missense

c.98G>T; p.R33L; 7:37916440-37916440

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.398G>A; p.R133H; 7:37916140-37916140

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.48G>A; p.A16A; 7:37916490-37916490

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.96C>G; p.C32W; 7:37916442-37916442

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.832G>T; p.D278Y; 7:37909640-37909640

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.653T>A; p.V218E; 7:37912257-37912257

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.917G>A; p.G306E; 7:37907603-37907603

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.309C>A; p.R103R; 7:37916229-37916229

 thyroidother; neoplasmSubstitution - coding silent

c.481G>A; p.V161I; 7:37914418-37914418

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.883C>T; p.R295W; 7:37907637-37907637

 livercarcinomaSubstitution - Missense

c.884G>A; p.R295Q; 7:37907636-37907636

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.317A>G; p.D106G; 7:37916221-37916221

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.444G>C; p.E148D; 7:37916094-37916094

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.594T>C; p.V198V; 7:37912316-37912316

 stomachadenocarcinomaSubstitution - coding silent

c.899A>G; p.D300G; 7:37907621-37907621

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.702A>T; p.Q234H; 7:37912208-37912208

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.367C>T; p.L123L; 7:37916171-37916171

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.313C>T; p.R105C; 7:37916225-37916225

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.319G>A; p.D107N; 7:37916219-37916219

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.695G>A; p.R232Q; 7:37912215-37912215

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.695G>A; p.R232Q; 7:37912215-37912215

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.360C>T; p.P120P; 7:37916178-37916178

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.695G>A; p.R232Q; 7:37912215-37912215

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.695G>A; p.R232Q; 7:37912215-37912215

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.695G>A; p.R232Q; 7:37912215-37912215

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.695G>A; p.R232Q; 7:37912215-37912215

 skin; neckmalignant_melanomaSubstitution - Missense

c.695G>A; p.R232Q; 7:37912215-37912215

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.982C>T; p.P328S; 7:37907538-37907538

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.695G>A; p.R232Q; 7:37912215-37912215

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.367C>G; p.L123V; 7:37916171-37916171

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.695G>A; p.R232Q; 7:37912215-37912215

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.919C>T; p.R307C; 7:37907601-37907601

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.939C>T; p.P313P; 7:37907581-37907581

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.249C>G; p.P83P; 7:37916289-37916289

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.364A>G; p.S122G; 7:37916174-37916174

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.759T>C; p.D253D; 7:37912151-37912151

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.160G>A; p.A54T; 7:37916378-37916378

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.736C>T; p.P246S; 7:37912174-37912174

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.908A>T; p.K303I; 7:37907612-37907612

 skinmalignant_melanomaSubstitution - Missense

c.379G>A; p.E127K; 7:37916159-37916159

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1023A>G; p.T341T; 7:37907497-37907497

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.315C>T; p.R105R; 7:37916223-37916223

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.315C>T; p.R105R; 7:37916223-37916223

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.687_688insC; p.I230fs*40; 7:37912222-37912223

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.315C>T; p.R105R; 7:37916223-37916223

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.315C>T; p.R105R; 7:37916223-37916223

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1016A>G; p.K339R; 7:37907504-37907504

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.844A>T; p.K282*; 7:37909628-37909628

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.951G>C; p.K317N; 7:37907569-37907569

 breastcarcinomaSubstitution - Missense

c.14T>A; p.I5N; 7:37916524-37916524

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.150G>T; p.T50T; 7:37916388-37916388

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.885G>A; p.R295R; 7:37907635-37907635

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.529C>T; p.R177W; 7:37914276-37914276

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.529C>T; p.R177W; 7:37914276-37914276

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.529C>T; p.R177W; 7:37914276-37914276

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.83G>A; p.R28H; 7:37916455-37916455

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.656A>G; p.D219G; 7:37912254-37912254

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.83G>A; p.R28H; 7:37916455-37916455

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.916G>T; p.G306W; 7:37907604-37907604

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.245C>T; p.A82V; 7:37916293-37916293

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.958C>A; p.P320T; 7:37907562-37907562

 skinmalignant_melanomaSubstitution - Missense

c.361G>A; p.E121K; 7:37916177-37916177

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.792-4_792-3insT; p.?; 7:37909683-37909684

 oesophaguscarcinoma; adenocarcinomaUnknown

c.1029G>A; p.P343P; 7:37907491-37907491

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.413C>T; p.S138L; 7:37916125-37916125

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1029G>A; p.P343P; 7:37907491-37907491

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.975A>G; p.P325P; 7:37907545-37907545

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.744C>T; p.I248I; 7:37912166-37912166

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.929G>T; p.R310L; 7:37907591-37907591

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.320A>G; p.D107G; 7:37916218-37916218

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.937C>T; p.P313S; 7:37907583-37907583

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.937C>T; p.P313S; 7:37907583-37907583

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.210C>G; p.S70R; 7:37916328-37916328

 oesophaguscarcinomaSubstitution - Missense

c.146G>A; p.S49N; 7:37916392-37916392

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.694C>T; p.R232*; 7:37912216-37912216

 skinmalignant_melanomaSubstitution - Nonsense

c.694C>T; p.R232*; 7:37912216-37912216

 skinmalignant_melanomaSubstitution - Nonsense

c.1019G>A; p.R340K; 7:37907501-37907501

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.732G>T; p.Q244H; 7:37912178-37912178

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.924C>T; p.T308T; 7:37907596-37907596

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1017G>A; p.K339K; 7:37907503-37907503

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.477G>T; p.M159I; 7:37914422-37914422

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.798G>T; p.M266I; 7:37909674-37909674

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.134A>T; p.H45L; 7:37916404-37916404

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.50T>C; p.L17P; 7:37916488-37916488

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.365G>A; p.S122N; 7:37916173-37916173

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.312G>A; p.A104A; 7:37916226-37916226

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.972A>C; p.K324N; 7:37907548-37907548

 thyroidother; neoplasmSubstitution - Missense

c.972A>C; p.K324N; 7:37907548-37907548

 thyroidother; neoplasmSubstitution - Missense

c.652G>A; p.V218M; 7:37912258-37912258

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.652G>A; p.V218M; 7:37912258-37912258

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.423C>A; p.A141A; 7:37916115-37916115

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.750C>A; p.P250P; 7:37912160-37912160

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.288G>A; p.P96P; 7:37916250-37916250

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.213C>T; p.A71A; 7:37916325-37916325

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.792G>A; p.R264R; 7:37909680-37909680

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.492G>A; p.R164R; 7:37914407-37914407

 skinmalignant_melanomaSubstitution - coding silent

c.722C>A; p.S241Y; 7:37912188-37912188

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.722C>A; p.S241Y; 7:37912188-37912188

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.514C>T; p.R172C; 7:37914385-37914385

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.514C>T; p.R172C; 7:37914385-37914385

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.514C>T; p.R172C; 7:37914385-37914385

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.514C>T; p.R172C; 7:37914385-37914385

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.514C>T; p.R172C; 7:37914385-37914385

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.514C>T; p.R172C; 7:37914385-37914385

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1009G>T; p.A337S; 7:37907511-37907511

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.74A>T; p.E25V; 7:37916464-37916464

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.311C>T; p.A104V; 7:37916227-37916227

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.150G>A; p.T50T; 7:37916388-37916388

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.805G>A; p.E269K; 7:37909667-37909667

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.217C>T; p.L73L; 7:37916321-37916321

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.254G>T; p.C85F; 7:37916284-37916284

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.66G>A; p.A22A; 7:37916472-37916472

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.722C>G; p.S241C; 7:37912188-37912188

 breastcarcinomaSubstitution - Missense

c.487G>A; p.E163K; 7:37914412-37914412

 skinmalignant_melanomaSubstitution - Missense

c.314G>A; p.R105H; 7:37916224-37916224

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.910A>G; p.T304A; 7:37907610-37907610

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.436C>A; p.L146I; 7:37916102-37916102

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.691C>T; p.P231S; 7:37912219-37912219

 skinmalignant_melanomaSubstitution - Missense

c.75G>A; p.E25E; 7:37916463-37916463

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.861G>A; p.W287*; 7:37907659-37907659

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.642C>T; p.V214V; 7:37912268-37912268

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.551A>G; p.K184R; 7:37914254-37914254

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.551A>G; p.K184R; 7:37914254-37914254

 skinmalignant_melanomaSubstitution - Missense

c.222C>T; p.R74R; 7:37916316-37916316

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.221G>A; p.R74H; 7:37916317-37916317

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.751C>T; p.H251Y; 7:37912159-37912159

 skinmalignant_melanomaSubstitution - Missense

c.339G>C; p.K113N; 7:37916199-37916199

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.567G>A; p.T189T; 7:37914238-37914238

 thyroidother; neoplasmSubstitution - coding silent

c.61G>A; p.G21S; 7:37916477-37916477

 oesophaguscarcinomaSubstitution - Missense

c.64G>A; p.A22T; 7:37916474-37916474

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.546G>T; p.K182N; 7:37914259-37914259

 haematopoietic_and_lymphoid_tissue; breastlymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.723T>G; p.S241S; 7:37912187-37912187

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.785G>A; p.R262H; 7:37912125-37912125

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.441G>A; p.P147P; 7:37916097-37916097

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.517C>G; p.L173V; 7:37914382-37914382

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.980G>T; p.S327I; 7:37907540-37907540

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.298G>T; p.V100L; 7:37916240-37916240

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1004G>A; p.R335K; 7:37907516-37907516

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.696A>G; p.R232R; 7:37912214-37912214

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.735T>A; p.C245*; 7:37912175-37912175

 skinmalignant_melanomaSubstitution - Nonsense

c.514C>G; p.R172G; 7:37914385-37914385

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.514C>G; p.R172G; 7:37914385-37914385

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.484C>G; p.Q162E; 7:37914415-37914415

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.282C>G; p.I94M; 7:37916256-37916256

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.707C>T; p.P236L; 7:37912203-37912203

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.564A>T; p.A188A; 7:37914241-37914241

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

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