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

Basic Information

Gene ID

83595

Name

SOX7

Synonymous

SRY (sex determining region Y)-box 7;SOX7;SRY (sex determining region Y)-box 7

Definition

transcription factor SOX-7

Position

8p23.1

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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.12.

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.282C>T; p.Y94Y; 8:10726623-10726623

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.558C>T; p.G186G; 8:10726347-10726347

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.937G>A; p.D313N; 8:10725968-10725968

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.382C>T; p.R128C; 8:10726523-10726523

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.559G>A; p.G187S; 8:10726346-10726346

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1124C>T; p.A375V; 8:10725781-10725781

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.135C>T; p.I45I; 8:10730299-10730299

 breastcarcinomaSubstitution - coding silent

c.959A>T; p.Q320L; 8:10725946-10725946

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.389A>G; p.D130G; 8:10726516-10726516

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.964G>A; p.E322K; 8:10725941-10725941

 skinmalignant_melanomaSubstitution - Missense

c.783C>T; p.A261A; 8:10726122-10726122

 skinmalignant_melanomaSubstitution - coding silent

c.646G>T; p.E216*; 8:10726259-10726259

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.421G>T; p.D141Y; 8:10726484-10726484

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.588G>A; p.T196T; 8:10726317-10726317

 livercarcinomaSubstitution - coding silent

c.588G>A; p.T196T; 8:10726317-10726317

 livercarcinomaSubstitution - coding silent

c.732G>T; p.P244P; 8:10726173-10726173

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1078G>C; p.V360L; 8:10725827-10725827

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1039_1040GG>TT; p.G347L; 8:10725865-10725866

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.817C>T; p.P273S; 8:10726088-10726088

 skinmalignant_melanomaSubstitution - Missense

c.384C>T; p.R128R; 8:10726521-10726521

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.293C>T; p.A98V; 8:10726612-10726612

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.997G>A; p.D333N; 8:10725908-10725908

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.350G>A; p.R117H; 8:10726555-10726555

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.908T>C; p.L303P; 8:10725997-10725997

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.854C>T; p.S285F; 8:10726051-10726051

 skinmalignant_melanomaSubstitution - Missense

c.156C>A; p.F52L; 8:10730278-10730278

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.383G>A; p.R128H; 8:10726522-10726522

 stomachadenocarcinomaSubstitution - Missense

c.854_855CC>TT; p.S285F; 8:10726050-10726051

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.260C>T; p.T87M; 8:10726645-10726645

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.657C>A; p.F219L; 8:10726248-10726248

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.563G>A; p.G188D; 8:10726342-10726342

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.799G>A; p.G267S; 8:10726106-10726106

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.298C>T; p.R100W; 8:10726607-10726607

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.377G>C; p.C126S; 8:10726528-10726528

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1088C>T; p.T363M; 8:10725817-10725817

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.839C>T; p.S280F; 8:10726066-10726066

 skinmalignant_melanomaSubstitution - Missense

c.1004A>G; p.Y335C; 8:10725901-10725901

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.281A>G; p.Y94C; 8:10726624-10726624

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.273G>C; p.K91N; 8:10726632-10726632

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.825C>T; p.P275P; 8:10726080-10726080

 breastcarcinomaSubstitution - coding silent

c.556G>T; p.G186C; 8:10726349-10726349

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.772G>T; p.G258C; 8:10726133-10726133

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1074C>T; p.S358S; 8:10725831-10725831

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.977A>G; p.D326G; 8:10725928-10725928

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.515C>T; p.P172L; 8:10726390-10726390

 skinmalignant_melanomaSubstitution - Missense

c.174C>T; p.D58D; 8:10730260-10730260

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.765C>A; p.H255Q; 8:10726140-10726140

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.806C>G; p.S269C; 8:10726099-10726099

 skinmalignant_melanomaSubstitution - Missense

c.283G>A; p.V95M; 8:10726622-10726622

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.177G>A; p.E59E; 8:10730257-10730257

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.765delC; p.L257fs*14; 8:10726140-10726140

 prostatecarcinomaDeletion - Frameshift

c.1082C>T; p.T361I; 8:10725823-10725823

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.418delC; p.R140fs*131; 8:10726487-10726487

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.769delC; p.L257fs*14; 8:10726136-10726136

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.769delC; p.L257fs*14; 8:10726136-10726136

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.769delC; p.L257fs*14; 8:10726136-10726136

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.769delC; p.L257fs*14; 8:10726136-10726136

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.769delC; p.L257fs*14; 8:10726136-10726136

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.738C>T; p.Y246Y; 8:10726167-10726167

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.457C>T; p.R153W; 8:10726448-10726448

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.255G>A; p.A85A; 8:10726650-10726650

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.911C>T; p.S304F; 8:10725994-10725994

 skinmalignant_melanomaSubstitution - Missense

c.911C>T; p.S304F; 8:10725994-10725994

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1090G>A; p.G364S; 8:10725815-10725815

 skinmalignant_melanomaSubstitution - Missense

c.349C>T; p.R117C; 8:10726556-10726556

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.996C>T; p.F332F; 8:10725909-10725909

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.833C>T; p.P278L; 8:10726072-10726072

 skinmalignant_melanomaSubstitution - Missense

c.996C>T; p.F332F; 8:10725909-10725909

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.996C>T; p.F332F; 8:10725909-10725909

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.458G>A; p.R153Q; 8:10726447-10726447

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.458G>A; p.R153Q; 8:10726447-10726447

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.506C>G; p.T169S; 8:10726399-10726399

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.940G>A; p.A314T; 8:10725965-10725965

 breastcarcinomaSubstitution - Missense

c.662C>T; p.S221F; 8:10726243-10726243

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.698G>A; p.R233H; 8:10726207-10726207

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.665C>T; p.S222F; 8:10726240-10726240

 skinmalignant_melanomaSubstitution - Missense

c.399C>T; p.F133F; 8:10726506-10726506

 skinmalignant_melanomaSubstitution - coding silent

c.703C>T; p.P235S; 8:10726202-10726202

 skinmalignant_melanomaSubstitution - Missense

c.766C>T; p.P256S; 8:10726139-10726139

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.986G>A; p.R329H; 8:10725919-10725919

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.876C>T; p.L292L; 8:10726029-10726029

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.986G>A; p.R329H; 8:10725919-10725919

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1078G>T; p.V360L; 8:10725827-10725827

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.699C>T; p.R233R; 8:10726206-10726206

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.451G>C; p.G151R; 8:10726454-10726454

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.501C>T; p.P167P; 8:10726404-10726404

 skinmalignant_melanomaSubstitution - coding silent

c.1098A>G; p.T366T; 8:10725807-10725807

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1113C>G; p.I371M; 8:10725792-10725792

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.348G>A; p.P116P; 8:10726557-10726557

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.462G>C; p.G154G; 8:10726443-10726443

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.398T>G; p.F133C; 8:10726507-10726507

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.246G>A; p.S82S; 8:10726659-10726659

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.395G>A; p.G132D; 8:10726510-10726510

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1078G>A; p.V360M; 8:10725827-10725827

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.961G>A; p.V321M; 8:10725944-10725944

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.254C>T; p.A85V; 8:10726651-10726651

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.689_690delAT; p.H230fs*24; 8:10726215-10726216

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.1134G>A; p.T378T; 8:10725771-10725771

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.724T>C; p.Y242H; 8:10726181-10726181

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.724T>C; p.Y242H; 8:10726181-10726181

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.936C>T; p.F312F; 8:10725969-10725969

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.936C>T; p.F312F; 8:10725969-10725969

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.664T>C; p.S222P; 8:10726241-10726241

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.691C>T; p.P231S; 8:10726214-10726214

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.798C>A; p.P266P; 8:10726107-10726107

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.892G>A; p.A298T; 8:10726013-10726013

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.858G>A; p.P286P; 8:10726047-10726047

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1015C>T; p.P339S; 8:10725890-10725890

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1015C>T; p.P339S; 8:10725890-10725890

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.890A>C; p.Q297P; 8:10726015-10726015

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.985C>T; p.R329C; 8:10725920-10725920

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.634G>A; p.V212M; 8:10726271-10726271

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.503G>A; p.G168D; 8:10726402-10726402

 ovaryother; neoplasmSubstitution - Missense

c.946G>T; p.D316Y; 8:10725959-10725959

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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