Cell senescence gene database Home
Cell senescence database
General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction

Basic Information

Gene ID

1736

Name

DKC1

Synonymous

dyskeratosis congenita 1, dyskerin;DKC1;dyskeratosis congenita 1, dyskerin

Definition

CBF5 homolog|H/ACA ribonucleoprotein complex subunit 4|nopp140-associated protein of 57 kDa|nucleolar protein NAP57|nucleolar protein family A member 4|snoRNP protein DKC1

Position

Xq28

Gene Type

protein-coding

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.763A>G; p.S255G; 23:154768424-154768424

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.320C>T; p.A107V; 23:154766272-154766272

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.762G>C; p.M254I; 23:154768423-154768423

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.309T>C; p.H103H; 23:154766261-154766261

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.1498A>T; p.K500*; 23:154776820-154776820

 livercarcinomaSubstitution - Nonsense

c.1498A>T; p.K500*; 23:154776820-154776820

 livercarcinomaSubstitution - Nonsense

c.1142G>C; p.G381A; 23:154773236-154773236

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1498A>T; p.K500*; 23:154776820-154776820

 livercarcinomaSubstitution - Nonsense

c.1498A>T; p.K500*; 23:154776820-154776820

 livercarcinomaSubstitution - Nonsense

c.669C>T; p.G223G; 23:154768330-154768330

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.358C>A; p.H120N; 23:154766310-154766310

 large_intestine; colonadenomaSubstitution - Missense

c.1334C>T; p.A445V; 23:154775269-154775269

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.660T>C; p.C220C; 23:154768321-154768321

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.971A>G; p.E324G; 23:154770814-154770814

 livercarcinomaSubstitution - Missense

c.971A>G; p.E324G; 23:154770814-154770814

 livercarcinomaSubstitution - Missense

c.1393T>C; p.L465L; 23:154776241-154776241

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1176G>T; p.M392I; 23:154774622-154774622

 breastcarcinomaSubstitution - Missense

c.216T>C; p.L72L; 23:154765951-154765951

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1461C>T; p.A487A; 23:154776309-154776309

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1515A>G; p.K505K; 23:154776837-154776837

 breastcarcinomaSubstitution - coding silent

c.1269_1270insA; p.E426fs*5; 23:154775204-154775205

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.217G>T; p.A73S; 23:154765952-154765952

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.850C>T; p.R284*; 23:154769245-154769245

 haematopoietic_and_lymphoid_tissue; tonsillymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Nonsense

c.641-9G>A; p.?; 23:154768293-154768293

 breastcarcinomaUnknown

c.58A>G; p.K20E; 23:154764940-154764940

 breastcarcinomaSubstitution - Missense

c.1059G>T; p.A353A; 23:154773153-154773153

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1492_1493insAAG; p.K498_K499insE; 23:154776814-154776815

 stomachcarcinoma; diffuse_adenocarcinomaInsertion - In frame

c.1059G>T; p.A353A; 23:154773153-154773153

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1492_1493insAAG; p.K498_K499insE; 23:154776814-154776815

 stomachcarcinoma; intestinal_adenocarcinomaInsertion - In frame

c.404G>A; p.C135Y; 23:154766356-154766356

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1492_1494delAAG; p.K505delK; 23:154776814-154776816

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.1118G>T; p.R373I; 23:154773212-154773212

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1314T>A; p.V438V; 23:154775249-154775249

 thyroidcarcinomaSubstitution - coding silent

c.857T>C; p.V286A; 23:154769252-154769252

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.454G>C; p.E152Q; 23:154767002-154767002

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1331C>T; p.T444I; 23:154775266-154775266

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.736C>A; p.L246I; 23:154768397-154768397

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1036G>A; p.A346T; 23:154770879-154770879

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.797T>C; p.V266A; 23:154769192-154769192

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.422G>A; p.R141H; 23:154766374-154766374

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1271A>G; p.K424R; 23:154775206-154775206

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1122C>T; p.D374D; 23:154773216-154773216

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.121G>T; p.E41*; 23:154765480-154765480

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.583C>T; p.R195*; 23:154767325-154767325

 central_nervous_system; brainglioma; oligodendroglioma_Grade_IIISubstitution - Nonsense

c.832G>A; p.D278N; 23:154769227-154769227

 skinmalignant_melanomaSubstitution - Missense

c.600C>T; p.Y200Y; 23:154767342-154767342

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.625C>T; p.P209S; 23:154767367-154767367

 skinmalignant_melanomaSubstitution - Missense

c.622G>A; p.D208N; 23:154767364-154767364

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.622G>A; p.D208N; 23:154767364-154767364

 skinmalignant_melanomaSubstitution - Missense

c.601G>A; p.E201K; 23:154767343-154767343

 breastcarcinomaSubstitution - Missense

c.493G>T; p.G165W; 23:154767041-154767041

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1276G>A; p.E426K; 23:154775211-154775211

 skinmalignant_melanomaSubstitution - Missense

c.1418G>T; p.S473I; 23:154776266-154776266

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.821A>G; p.D274G; 23:154769216-154769216

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1494G>T; p.K498N; 23:154776816-154776816

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.210A>G; p.T70T; 23:154765945-154765945

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.210A>G; p.T70T; 23:154765945-154765945

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.55C>T; p.R19W; 23:154764937-154764937

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.55C>T; p.R19W; 23:154764937-154764937

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.329G>A; p.R110Q; 23:154766281-154766281

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1462G>A; p.E488K; 23:154776310-154776310

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1317C>T; p.A439A; 23:154775252-154775252

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.634A>T; p.R212*; 23:154767376-154767376

 breastcarcinomaSubstitution - Nonsense

c.1354G>A; p.E452K; 23:154776202-154776202

 breastcarcinomaSubstitution - Missense

c.1143T>G; p.G381G; 23:154773237-154773237

 skinmalignant_melanomaSubstitution - coding silent

c.90A>G; p.I30M; 23:154765449-154765449

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1305G>A; p.P435P; 23:154775240-154775240

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1297A>C; p.K433Q; 23:154775232-154775232

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.552C>T; p.P184P; 23:154767294-154767294

 skinmalignant_melanomaSubstitution - coding silent

c.324G>C; p.W108C; 23:154766276-154766276

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.809A>G; p.Q270R; 23:154769204-154769204

 pancreascarcinomaSubstitution - Missense

c.548G>A; p.R183Q; 23:154767290-154767290

 central_nervous_system; brainglioma; oligodendroglioma_Grade_IIISubstitution - Missense

c.39T>G; p.H13Q; 23:154764921-154764921

 breastcarcinomaSubstitution - Missense

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