ONGene
Top
Scroll To Top
Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

54904

Name

WHSC1L1

Synonymous

Wolf-Hirschhorn syndrome candidate 1-like 1;WHSC1L1;Wolf-Hirschhorn syndrome candidate 1-like 1

Definition

WHSC1-like 1 isoform 9 with methyltransferase activity to lysine|histone-lysine N-methyltransferase NSD3|nuclear SET domain-containing protein 3|protein whistle

Position

8p11.2

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1444T>C; p.S482P; 8:38329515-38329515

 breastcarcinoma; ER-PR-positive_carcinomaSubstitution - Missense

c.1086G>A; p.Q362Q; 8:38329873-38329873

 breastcarcinomaSubstitution - coding silent

c.1192C>A; p.Q398K; 8:38329767-38329767

 breastcarcinomaSubstitution - Missense

c.1052C>G; p.S351C; 8:38331444-38331444

 central_nervous_system; thalamusglioma; astrocytoma_Grade_IISubstitution - Missense

c.261G>A; p.Q87Q; 8:38347911-38347911

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.806A>G; p.Q269R; 8:38337409-38337409

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.838A>C; p.T280P; 8:38337377-38337377

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.701T>C; p.V234A; 8:38338582-38338582

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1168T>C; p.Y390H; 8:38329791-38329791

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1722G>T; p.K574N; 8:38321159-38321159

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1010A>C; p.E337A; 8:38331486-38331486

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1295A>C; p.Q432P; 8:38329664-38329664

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1194G>A; p.Q398Q; 8:38329765-38329765

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.747A>G; p.P249P; 8:38338536-38338536

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1221A>C; p.K407N; 8:38329738-38329738

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.550G>A; p.E184K; 8:38347622-38347622

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.928G>T; p.V310F; 8:38331568-38331568

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1418C>T; p.A473V; 8:38329541-38329541

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.594A>T; p.K198N; 8:38347578-38347578

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.287C>A; p.S96*; 8:38347885-38347885

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1136T>C; p.L379S; 8:38329823-38329823

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1255_1256insA; p.T419fs*28; 8:38329703-38329704

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.631C>T; p.R211C; 8:38347541-38347541

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.558G>A; p.T186T; 8:38347614-38347614

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.736G>T; p.E246*; 8:38338547-38338547

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1392G>A; p.P464P; 8:38329567-38329567

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1690G>T; p.A564S; 8:38326748-38326748

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1255delA; p.T419fs*8; 8:38329704-38329704

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1667C>T; p.T556M; 8:38326771-38326771

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.115G>A; p.D39N; 8:38348057-38348057

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.15C>A; p.F5L; 8:38348157-38348157

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.245C>T; p.T82I; 8:38347927-38347927

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1531A>G; p.N511D; 8:38329428-38329428

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1553T>G; p.F518C; 8:38329406-38329406

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.977G>C; p.R326P; 8:38331519-38331519

 livercarcinomaSubstitution - Missense

c.977G>C; p.R326P; 8:38331519-38331519

 livercarcinomaSubstitution - Missense

c.1594A>T; p.K532*; 8:38326844-38326844

 livercarcinomaSubstitution - Nonsense

c.86G>A; p.R29H; 8:38348086-38348086

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.632G>A; p.R211H; 8:38347540-38347540

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1309G>C; p.E437Q; 8:38329650-38329650

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1336G>C; p.E446Q; 8:38329623-38329623

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.121G>A; p.A41T; 8:38348051-38348051

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1126G>A; p.E376K; 8:38329833-38329833

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.933G>A; p.Q311Q; 8:38331563-38331563

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.721G>T; p.E241*; 8:38338562-38338562

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1306G>T; p.G436W; 8:38329653-38329653

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1552T>C; p.F518L; 8:38329407-38329407

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.960G>T; p.A320A; 8:38331536-38331536

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.196C>G; p.L66V; 8:38347976-38347976

 NSNSSubstitution - Missense

c.1261C>T; p.R421*; 8:38329698-38329698

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.824G>C; p.W275S; 8:38337391-38337391

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1656T>C; p.N552N; 8:38326782-38326782

 pancreascarcinomaSubstitution - coding silent

c.222A>G; p.P74P; 8:38347950-38347950

 pancreascarcinomaSubstitution - coding silent

c.886G>T; p.V296F; 8:38337329-38337329

 pancreascarcinomaSubstitution - Missense

c.1616G>T; p.G539V; 8:38326822-38326822

 skinmalignant_melanomaSubstitution - Missense

c.745C>T; p.P249S; 8:38338538-38338538

 skinmalignant_melanomaSubstitution - Missense

c.1446C>T; p.S482S; 8:38329513-38329513

 skinmalignant_melanomaSubstitution - coding silent

c.1541G>A; p.G514E; 8:38329418-38329418

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1077C>T; p.P359P; 8:38329882-38329882

 skinmalignant_melanomaSubstitution - coding silent

c.1433C>T; p.S478F; 8:38329526-38329526

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1212C>T; p.S404S; 8:38329747-38329747

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.923A>T; p.Y308F; 8:38331573-38331573

 skinmalignant_melanomaSubstitution - Missense

c.1445C>T; p.S482F; 8:38329514-38329514

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.429G>T; p.V143V; 8:38347743-38347743

 skinmalignant_melanomaSubstitution - coding silent

c.959C>T; p.A320V; 8:38331537-38331537

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1255delA; p.T419fs*8; 8:38329704-38329704

 stomachadenocarcinomaDeletion - Frameshift

c.325A>G; p.T109A; 8:38347847-38347847

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.813C>T; p.G271G; 8:38337402-38337402

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.84C>T; p.I28I; 8:38348088-38348088

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.592A>G; p.K198E; 8:38347580-38347580

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.413C>T; p.S138L; 8:38347759-38347759

 thyroidcarcinomaSubstitution - Missense

c.1391C>T; p.P464L; 8:38329568-38329568

 thyroidcarcinomaSubstitution - Missense

c.66C>T; p.L22L; 8:38348106-38348106

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.9C>G; p.F3L; 8:38348163-38348163

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1910C>T; p.S637F; 8:38317984-38317984

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1507A>G; p.I503V; 8:38329452-38329452

 urinary_tract; bladdercarcinomaSubstitution - Missense