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

Basic Information

Gene ID

6664

Name

SOX11

Synonymous

SRY (sex determining region Y)-box 11;SOX11;SRY (sex determining region Y)-box 11

Definition

SRY (sex-determining region Y)-box 11|SRY-related HMG-box gene 11|transcription factor SOX-11

Position

2p25

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 0.11.

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.903G>A; p.A301A; 2:5693624-5693624

 skinmalignant_melanomaSubstitution - coding silent

c.903G>A; p.A301A; 2:5693624-5693624

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.263A>T; p.K88I; 2:5692984-5692984

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.179C>T; p.S60F; 2:5692900-5692900

 skinmalignant_melanomaSubstitution - Missense

c.179C>T; p.S60F; 2:5692900-5692900

 skinmalignant_melanomaSubstitution - Missense

c.151C>T; p.R51W; 2:5692872-5692872

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.138G>T; p.S46S; 2:5692859-5692859

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1308C>A; p.D436E; 2:5694029-5694029

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.63G>C; p.T21T; 2:5692784-5692784

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1192G>T; p.D398Y; 2:5693913-5693913

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.695A>T; p.D232V; 2:5693416-5693416

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1041C>T; p.S347S; 2:5693762-5693762

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1041C>T; p.S347S; 2:5693762-5693762

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.361C>T; p.R121W; 2:5693082-5693082

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.678C>T; p.D226D; 2:5693399-5693399

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.22T>A; p.L8M; 2:5692743-5692743

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1045A>G; p.S349G; 2:5693766-5693766

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.423C>A; p.S141R; 2:5693144-5693144

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1153G>A; p.A385T; 2:5693874-5693874

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1118C>T; p.A373V; 2:5693839-5693839

 pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.1153G>A; p.A385T; 2:5693874-5693874

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.306G>A; p.A102A; 2:5693027-5693027

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.169A>G; p.M57V; 2:5692890-5692890

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.298C>T; p.R100W; 2:5693019-5693019

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.298C>T; p.R100W; 2:5693019-5693019

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.400G>T; p.A134S; 2:5693121-5693121

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1283A>G; p.D428G; 2:5694004-5694004

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1305C>T; p.S435S; 2:5694026-5694026

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.291G>A; p.P97P; 2:5693012-5693012

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.53C>T; p.A18V; 2:5692774-5692774

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.291G>A; p.P97P; 2:5693012-5693012

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1284C>G; p.D428E; 2:5694005-5694005

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.495G>T; p.K165N; 2:5693216-5693216

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.158T>A; p.M53K; 2:5692879-5692879

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1158G>A; p.A386A; 2:5693879-5693879

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.71G>A; p.G24D; 2:5692792-5692792

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1267G>A; p.E423K; 2:5693988-5693988

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1013C>A; p.S338*; 2:5693734-5693734

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.105C>T; p.D35D; 2:5692826-5692826

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.33G>C; p.E11D; 2:5692754-5692754

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1234G>T; p.E412*; 2:5693955-5693955

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1234G>T; p.E412*; 2:5693955-5693955

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.818C>T; p.A273V; 2:5693539-5693539

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.290C>T; p.P97L; 2:5693011-5693011

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.274G>T; p.D92Y; 2:5692995-5692995

 livercarcinomaSubstitution - Missense

c.274G>T; p.D92Y; 2:5692995-5692995

 livercarcinomaSubstitution - Missense

c.137C>T; p.S46L; 2:5692858-5692858

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.137C>T; p.S46L; 2:5692858-5692858

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.343G>T; p.D115Y; 2:5693064-5693064

 breastcarcinomaSubstitution - Missense

c.430G>A; p.G144S; 2:5693151-5693151

 pancreascarcinomaSubstitution - Missense

c.343G>A; p.D115N; 2:5693064-5693064

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.156G>T; p.P52P; 2:5692877-5692877

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.714G>C; p.Q238H; 2:5693435-5693435

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1125C>T; p.S375S; 2:5693846-5693846

 pancreascarcinomaSubstitution - coding silent

c.301G>T; p.E101*; 2:5693022-5693022

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.190C>T; p.R64C; 2:5692911-5692911

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.374A>G; p.K125R; 2:5693095-5693095

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.215_216CG>AT; p.P72>?; 2:5692936-5692937

 lungcarcinoma; adenocarcinomaComplex

c.700G>A; p.E234K; 2:5693421-5693421

 skinmalignant_melanomaSubstitution - Missense

c.700G>A; p.E234K; 2:5693421-5693421

 skinmalignant_melanomaSubstitution - Missense

c.255G>A; p.K85K; 2:5692976-5692976

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.95T>G; p.V32G; 2:5692816-5692816

 central_nervous_system; brainglioma; oligodendroglioma_Grade_IIISubstitution - Missense

c.24G>T; p.L8F; 2:5692745-5692745

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.611G>A; p.R204H; 2:5693332-5693332

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1069G>A; p.D357N; 2:5693790-5693790

 skinmalignant_melanomaSubstitution - Missense

c.611G>A; p.R204H; 2:5693332-5693332

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.978C>G; p.L326L; 2:5693699-5693699

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.978C>G; p.L326L; 2:5693699-5693699

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.978C>G; p.L326L; 2:5693699-5693699

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.978C>G; p.L326L; 2:5693699-5693699

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.978C>G; p.L326L; 2:5693699-5693699

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.978C>G; p.L326L; 2:5693699-5693699

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.978C>G; p.L326L; 2:5693699-5693699

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.712C>A; p.Q238K; 2:5693433-5693433

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.978C>G; p.L326L; 2:5693699-5693699

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.573C>T; p.Y191Y; 2:5693294-5693294

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.978C>G; p.L326L; 2:5693699-5693699

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.978C>G; p.L326L; 2:5693699-5693699

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.978C>G; p.L326L; 2:5693699-5693699

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.978C>G; p.L326L; 2:5693699-5693699

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.978C>G; p.L326L; 2:5693699-5693699

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.310C>A; p.R104R; 2:5693031-5693031

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.135G>A; p.A45A; 2:5692856-5692856

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.893G>A; p.R298Q; 2:5693614-5693614

 kidneyother; neoplasmSubstitution - Missense

c.364delA; p.K123fs*83; 2:5693085-5693085

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.364delA; p.K123fs*83; 2:5693085-5693085

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.364delA; p.K123fs*83; 2:5693085-5693085

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.657C>T; p.C219C; 2:5693378-5693378

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.657C>T; p.C219C; 2:5693378-5693378

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.249G>A; p.L83L; 2:5692970-5692970

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.925A>G; p.S309G; 2:5693646-5693646

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.304G>A; p.A102T; 2:5693025-5693025

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1067A>T; p.E356V; 2:5693788-5693788

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1234G>A; p.E412K; 2:5693955-5693955

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.329T>A; p.M110K; 2:5693050-5693050

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.879_880insC; p.Y294fs*104; 2:5693600-5693601

 stomachcarcinoma; diffuse_adenocarcinomaInsertion - Frameshift

c.103G>A; p.D35N; 2:5692824-5692824

 central_nervous_system; brainglioma; oligodendroglioma_Grade_IIISubstitution - Missense

c.75A>G; p.E25E; 2:5692796-5692796

 skinmalignant_melanomaSubstitution - coding silent

c.134C>T; p.A45V; 2:5692855-5692855

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.154C>A; p.P52T; 2:5692875-5692875

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.18G>C; p.E6D; 2:5692739-5692739

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.301G>C; p.E101Q; 2:5693022-5693022

 NSmalignant_melanomaSubstitution - Missense

c.1008G>A; p.S336S; 2:5693729-5693729

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.18G>C; p.E6D; 2:5692739-5692739

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.301G>C; p.E101Q; 2:5693022-5693022

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.216G>A; p.P72P; 2:5692937-5692937

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.950A>G; p.N317S; 2:5693671-5693671

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1114A>G; p.S372G; 2:5693835-5693835

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.87C>T; p.C29C; 2:5692808-5692808

 ovaryother; neoplasmSubstitution - coding silent

c.87C>T; p.C29C; 2:5692808-5692808

 ovaryother; neoplasmSubstitution - coding silent

c.74A>C; p.E25A; 2:5692795-5692795

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1185G>A; p.V395V; 2:5693906-5693906

 livercarcinomaSubstitution - coding silent

c.1064G>A; p.G355D; 2:5693785-5693785

 livercarcinomaSubstitution - Missense

c.1064G>A; p.G355D; 2:5693785-5693785

 livercarcinomaSubstitution - Missense

c.1185G>A; p.V395V; 2:5693906-5693906

 livercarcinomaSubstitution - coding silent

c.366A>G; p.K122K; 2:5693087-5693087

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.349A>G; p.K117E; 2:5693070-5693070

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.589G>A; p.D197N; 2:5693310-5693310

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.961C>A; p.Q321K; 2:5693682-5693682

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.589G>A; p.D197N; 2:5693310-5693310

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.266T>C; p.M89T; 2:5692987-5692987

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.266T>C; p.M89T; 2:5692987-5692987

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.477C>A; p.T159T; 2:5693198-5693198

 livercarcinomaSubstitution - coding silent

c.477C>A; p.T159T; 2:5693198-5693198

 livercarcinomaSubstitution - coding silent

c.1284C>A; p.D428E; 2:5694005-5694005

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.879C>A; p.L293L; 2:5693600-5693600

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.179C>A; p.S60Y; 2:5692900-5692900

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.298C>A; p.R100R; 2:5693019-5693019

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1247A>G; p.Y416C; 2:5693968-5693968

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1119G>A; p.A373A; 2:5693840-5693840

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1232T>C; p.F411S; 2:5693953-5693953

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.132G>A; p.T44T; 2:5692853-5692853

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1149delC; p.G384fs*38; 2:5693870-5693870

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1179G>A; p.S393S; 2:5693900-5693900

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.237C>G; p.I79M; 2:5692958-5692958

 ovaryother; neoplasmSubstitution - Missense

c.873G>T; p.A291A; 2:5693594-5693594

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.690C>T; p.D230D; 2:5693411-5693411

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.305C>T; p.A102V; 2:5693026-5693026

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1281G>A; p.G427G; 2:5694002-5694002

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.673_675delGAC; p.D233delD; 2:5693394-5693396

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.673_675delGAC; p.D233delD; 2:5693394-5693396

 large_intestinecarcinoma; adenocarcinomaDeletion - In frame

c.673_675delGAC; p.D233delD; 2:5693394-5693396

 pancreascarcinoma; acinar_carcinomaDeletion - In frame

c.279C>T; p.S93S; 2:5693000-5693000

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.279C>T; p.S93S; 2:5693000-5693000

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.438C>A; p.G146G; 2:5693159-5693159

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

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