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

Basic Information

Gene ID

6656

Name

SOX1

Synonymous

SRY (sex determining region Y)-box 1;SOX1;SRY (sex determining region Y)-box 1

Definition

SRY-related HMG-box gene 1|transcription factor SOX-1

Position

13q34

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 0.13.

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.360C>T; p.Y120Y; 13:112068018-112068018

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.160C>T; p.P54S; 13:112067818-112067818

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.304G>A; p.D102N; 13:112067962-112067962

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.32A>G; p.H11R; 13:112067690-112067690

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.367C>T; p.R123C; 13:112068025-112068025

 ovarycarcinomaSubstitution - Missense

c.322C>T; p.R108C; 13:112067980-112067980

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.547C>G; p.H183D; 13:112068205-112068205

 haematopoietic_and_lymphoid_tissue; abdomenlymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.200G>A; p.R67H; 13:112067858-112067858

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.405C>A; p.Y135*; 13:112068063-112068063

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.157C>T; p.R53W; 13:112067815-112067815

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.157C>T; p.R53W; 13:112067815-112067815

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.534C>T; p.G178G; 13:112068192-112068192

 livercarcinomaSubstitution - coding silent

c.383C>T; p.T128M; 13:112068041-112068041

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.534C>T; p.G178G; 13:112068192-112068192

 livercarcinomaSubstitution - coding silent

c.51G>C; p.Q17H; 13:112067709-112067709

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.80G>A; p.G27E; 13:112067738-112067738

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.260C>A; p.A87D; 13:112067918-112067918

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.324C>T; p.R108R; 13:112067982-112067982

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.869G>C; p.G290A; 13:112068527-112068527

 pancreascarcinomaSubstitution - Missense

c.267G>T; p.W89C; 13:112067925-112067925

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.27C>T; p.D9D; 13:112067685-112067685

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.914C>G; p.A305G; 13:112068572-112068572

 livercarcinomaSubstitution - Missense

c.189C>T; p.R63R; 13:112067847-112067847

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.464_469delTGGGCG; p.V161_G162delVG; 13:112068122-112068127

 biliary_tract; gallbladdercarcinoma; adenocarcinomaDeletion - In frame

c.273C>A; p.V91V; 13:112067931-112067931

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.22A>G; p.T8A; 13:112067680-112067680

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.108_109insGGC; p.G43_A44insG; 13:112067766-112067767

 large_intestinecarcinoma; adenocarcinomaInsertion - In frame

c.108_109insGGC; p.G43_A44insG; 13:112067766-112067767

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - In frame

c.108_109insGGC; p.G43_A44insG; 13:112067766-112067767

 large_intestinecarcinoma; adenocarcinomaInsertion - In frame

c.117C>T; p.G39G; 13:112067775-112067775

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.117C>T; p.G39G; 13:112067775-112067775

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.117C>T; p.G39G; 13:112067775-112067775

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1139C>T; p.A380V; 13:112068797-112068797

 central_nervous_system; spinal_cordglioma; ependymomaSubstitution - Missense

c.318G>A; p.R106R; 13:112067976-112067976

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.106delG; p.G37fs*19; 13:112067764-112067764

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.148C>A; p.R50R; 13:112067806-112067806

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.371G>A; p.R124H; 13:112068029-112068029

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.35C>T; p.S12L; 13:112067693-112067693

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.72C>T; p.G24G; 13:112067730-112067730

 skinmalignant_melanomaSubstitution - coding silent

c.213G>A; p.Q71Q; 13:112067871-112067871

 skinmalignant_melanomaSubstitution - coding silent

c.816C>A; p.G272G; 13:112068474-112068474

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1012G>A; p.G338R; 13:112068670-112068670

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.492G>A; p.A164A; 13:112068150-112068150

 pancreascarcinomaSubstitution - coding silent

c.21G>C; p.E7D; 13:112067679-112067679

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.481G>A; p.V161M; 13:112068139-112068139

 pancreascarcinomaSubstitution - Missense

c.268A>G; p.K90E; 13:112067926-112067926

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.485G>C; p.G162A; 13:112068143-112068143

 livercarcinomaSubstitution - Missense

c.485G>C; p.G162A; 13:112068143-112068143

 livercarcinomaSubstitution - Missense

c.280G>A; p.E94K; 13:112067938-112067938

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.53C>A; p.A18D; 13:112067711-112067711

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.380A>C; p.K127T; 13:112068038-112068038

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.739C>T; p.H247Y; 13:112068397-112068397

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.362G>T; p.R121L; 13:112068020-112068020

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.339G>T; p.K113N; 13:112067997-112067997

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.482_487delTGGGCG; p.V161_G162delVG; 13:112068140-112068145

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaDeletion - In frame

')