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Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

7291

Name

TWIST1

Synonymous

twist family bHLH transcription factor 1;TWIST1;twist family bHLH transcription factor 1

Definition

B-HLH DNA binding protein|H-twist|TWIST homolog of drosophila|class A basic helix-loop-helix protein 38|twist basic helix-loop-helix transcription factor 1|twist homolog 1|twist-related protein 1

Position

7p21.2

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.325C>T; p.Q109*; 7:19116997-19116997

 breastcarcinomaSubstitution - Nonsense

c.551G>T; p.S184I; 7:19116771-19116771

 breastcarcinomaSubstitution - Missense

c.438T>G; p.I146M; 7:19116884-19116884

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.387C>T; p.A129A; 7:19116935-19116935

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.352C>T; p.R118C; 7:19116970-19116970

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.541G>A; p.E181K; 7:19116781-19116781

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.598G>A; p.A200T; 7:19116724-19116724

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.285C>T; p.S95S; 7:19117037-19117037

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.403A>G; p.I135V; 7:19116919-19116919

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.526A>G; p.S176G; 7:19116796-19116796

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.528C>T; p.S176S; 7:19116794-19116794

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.298C>T; p.P100S; 7:19117024-19117024

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.495C>A; p.S165R; 7:19116827-19116827

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.384C>T; p.F128F; 7:19116938-19116938

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.542A>G; p.E181G; 7:19116780-19116780

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.542A>G; p.E181G; 7:19116780-19116780

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.590C>A; p.S197Y; 7:19116732-19116732

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.381G>A; p.A127A; 7:19116941-19116941

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.407C>A; p.P136H; 7:19116915-19116915

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.494G>C; p.S165T; 7:19116828-19116828

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.260_277del18; p.A87_S93>G; 7:19117045-19117062

 lungcarcinoma; adenocarcinomaComplex - deletion inframe

c.380C>T; p.A127V; 7:19116942-19116942

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.570G>C; p.W190C; 7:19116752-19116752

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.242G>C; p.C81S; 7:19117080-19117080

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.358C>T; p.R120C; 7:19116964-19116964

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.598G>A; p.A200T; 7:19116724-19116724

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.323C>T; p.T108M; 7:19116999-19116999

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.420G>C; p.S140S; 7:19116902-19116902

 ovaryother; neoplasmSubstitution - coding silent

c.420G>C; p.S140S; 7:19116902-19116902

 ovaryother; neoplasmSubstitution - coding silent

c.171T>G; p.G57G; 7:19117151-19117151

 pancreascarcinomaSubstitution - coding silent

c.259_276del18; p.A87_G92delAGGGGG; 7:19117046-19117063

 prostatecarcinoma; adenocarcinomaDeletion - In frame

c.259_276del18; p.A87_G92delAGGGGG; 7:19117046-19117063

 prostatecarcinoma; adenocarcinomaDeletion - In frame

c.550A>G; p.S184G; 7:19116772-19116772

 skinmalignant_melanomaSubstitution - Missense

c.564G>A; p.S188S; 7:19116758-19116758

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.346C>T; p.R116W; 7:19116976-19116976

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.289G>A; p.G97S; 7:19117033-19117033

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.300G>A; p.P100P; 7:19117022-19117022

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.369G>A; p.S123S; 7:19116953-19116953

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.369G>A; p.S123S; 7:19116953-19116953

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.541G>T; p.E181*; 7:19116781-19116781

 thyroidcarcinomaSubstitution - Nonsense

c.541G>T; p.E181*; 7:19116781-19116781

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense