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

Basic Information

Gene ID

5308

Name

PITX2

Synonymous

paired-like homeodomain 2;PITX2;paired-like homeodomain 2

Definition

ALL1-responsive protein ARP1|all1-responsive gene 1|homeobox protein PITX2|paired-like homeodomain transcription factor 2|pituitary homeobox 2|rieg bicoid-related homeobox transcription factor 1|solurshin

Position

4q25

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.455G>A; p.R152H; 4:110618645-110618645

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.522C>G; p.Y174*; 4:110618578-110618578

 breastcarcinomaSubstitution - Nonsense

c.797C>T; p.T266M; 4:110618303-110618303

 breastcarcinomaSubstitution - Missense

c.478A>G; p.K160E; 4:110618622-110618622

 breastcarcinomaSubstitution - Missense

c.373A>G; p.I125V; 4:110621202-110621202

 breastcarcinomaSubstitution - Missense

c.610T>G; p.F204V; 4:110618490-110618490

 breastcarcinomaSubstitution - Missense

c.494C>T; p.P165L; 4:110618606-110618606

 central_nervous_system; braingliomaSubstitution - Missense

c.121C>A; p.P41T; 4:110622340-110622340

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.796A>G; p.T266A; 4:110618304-110618304

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.941G>A; p.S314N; 4:110618159-110618159

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.370G>C; p.E124Q; 4:110621205-110621205

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.689C>T; p.S230L; 4:110618411-110618411

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.672C>A; p.I224I; 4:110618428-110618428

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.498G>A; p.Q166Q; 4:110618602-110618602

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.469G>A; p.E157K; 4:110618631-110618631

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.838delT; p.Y280fs*12; 4:110618262-110618262

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.264G>A; p.K88K; 4:110621311-110621311

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.22C>T; p.L8F; 4:110622439-110622439

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.743G>T; p.S248I; 4:110618357-110618357

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.743G>T; p.S248I; 4:110618357-110618357

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.639A>G; p.S213S; 4:110618461-110618461

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.527A>T; p.D176V; 4:110618573-110618573

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.813C>T; p.Y271Y; 4:110618287-110618287

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.886A>G; p.K296E; 4:110618214-110618214

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.854A>C; p.N285T; 4:110618246-110618246

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.788C>T; p.A263V; 4:110618312-110618312

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.561C>T; p.A187A; 4:110618539-110618539

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.454C>T; p.R152C; 4:110618646-110618646

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.690G>A; p.S230S; 4:110618410-110618410

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.864G>A; p.L288L; 4:110618236-110618236

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.78C>A; p.S26S; 4:110622383-110622383

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.848C>T; p.T283M; 4:110618252-110618252

 large_intestine; colonNSSubstitution - Missense

c.814G>A; p.A272T; 4:110618286-110618286

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.304C>T; p.Q102*; 4:110621271-110621271

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.964C>T; p.R322W; 4:110618136-110618136

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.732C>A; p.S244S; 4:110618368-110618368

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.621G>A; p.M207I; 4:110618479-110618479

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.350C>T; p.P117L; 4:110621225-110621225

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.382T>C; p.W128R; 4:110621193-110621193

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.395C>T; p.T132M; 4:110621180-110621180

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.661C>A; p.P221T; 4:110618439-110618439

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.205+2T>A; p.?; 4:110622254-110622254

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.71C>T; p.S24L; 4:110622390-110622390

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.587T>A; p.L196Q; 4:110618513-110618513

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.847A>G; p.T283A; 4:110618253-110618253

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.770G>A; p.S257N; 4:110618330-110618330

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.167T>C; p.V56A; 4:110622294-110622294

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.941G>C; p.S314T; 4:110618159-110618159

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.580G>A; p.A194T; 4:110618520-110618520

 prostateadenomaSubstitution - Missense

c.625G>A; p.V209I; 4:110618475-110618475

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.903C>T; p.F301F; 4:110618197-110618197

 skinmalignant_melanomaSubstitution - coding silent

c.299C>T; p.T100I; 4:110621276-110621276

 skinmalignant_melanomaSubstitution - Missense

c.485G>A; p.G162D; 4:110618615-110618615

 skinmalignant_melanomaSubstitution - Missense

c.420C>T; p.F140F; 4:110618680-110618680

 skinmalignant_melanomaSubstitution - coding silent

c.873G>A; p.L291L; 4:110618227-110618227

 skinmalignant_melanomaSubstitution - coding silent

c.367G>A; p.E123K; 4:110621208-110621208

 skinmalignant_melanomaSubstitution - Missense

c.408C>T; p.V136V; 4:110621167-110621167

 skinmalignant_melanomaSubstitution - coding silent

c.428G>C; p.R143P; 4:110618672-110618672

 skinmalignant_melanomaSubstitution - Missense

c.430C>T; p.R144W; 4:110618670-110618670

 skinmalignant_melanomaSubstitution - Missense

c.932C>T; p.S311F; 4:110618168-110618168

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.580G>A; p.A194T; 4:110618520-110618520

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.446A>G; p.K149R; 4:110618654-110618654

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.571C>A; p.L191I; 4:110618529-110618529

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.367G>A; p.E123K; 4:110621208-110621208

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.427C>T; p.R143C; 4:110618673-110618673

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.473T>A; p.L158Q; 4:110618627-110618627

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.477C>T; p.C159C; 4:110618623-110618623

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.750T>A; p.N250K; 4:110618350-110618350

 thyroidcarcinomaSubstitution - Missense

c.689C>G; p.S230W; 4:110618411-110618411

 thyroidcarcinomaSubstitution - Missense

c.738C>T; p.L246L; 4:110618362-110618362

 urinary_tract; bladdercarcinomaSubstitution - coding silent