Cancer metastasis database

Annotation category 5

Gene information

Gene ID 4760
Symbol

NEUROD1

Synonymous

BETA2|BHF-1|MODY6|NEUROD|bHLHa3

Full name

neuronal differentiation 1

Gene description

basic helix-loop-helix transcription factor|beta-cell E-box transactivator 2|class A basic helix-loop-helix protein 3|neurogenic differentiation factor 1|neurogenic helix-loop-helix protein NEUROD

Cytoband

2q32

Gene type

protein-coding

Synonymous

MIM:601724; HGNC:HGNC:7762; Ensembl:ENSG00000162992; HPRD:03428; Vega:OTTHUMG00000132583

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.779C>T; p.P260L; 2:181678082-181678082

prostatecarcinomaSubstitution - Missense

c.1069T>C; p.*357Q; 2:181677792-181677792

large_intestine; coloncarcinoma; adenocarcinomaNonstop extension

c.485G>A; p.S162N; 2:181678376-181678376

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.293G>A; p.R98H; 2:181678568-181678568

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.549G>A; p.L183L; 2:181678312-181678312

skinmalignant_melanomaSubstitution - coding silent

c.637T>G; p.S213A; 2:181678224-181678224

urinary_tract; bladdercarcinomaSubstitution - Missense

c.637T>G; p.S213A; 2:181678224-181678224

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.254G>A; p.G85D; 2:181678607-181678607

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.431G>A; p.R144H; 2:181678430-181678430

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.431G>A; p.R144H; 2:181678430-181678430

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.917C>T; p.A306V; 2:181677944-181677944

upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.484delA; p.S162fs*100; 2:181678377-181678377

thyroidcarcinoma; anaplastic_carcinomaDeletion - Frameshift

c.917C>T; p.A306V; 2:181677944-181677944

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.819C>T; p.L273L; 2:181678042-181678042

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.554C>T; p.A185V; 2:181678307-181678307

urinary_tract; bladdercarcinomaSubstitution - Missense

c.257C>T; p.P86L; 2:181678604-181678604

skinmalignant_melanomaSubstitution - Missense

c.145G>A; p.E49K; 2:181678716-181678716

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.714T>C; p.H238H; 2:181678147-181678147

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.714T>C; p.H238H; 2:181678147-181678147

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.867G>A; p.P289P; 2:181677994-181677994

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.431G>T; p.R144L; 2:181678430-181678430

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.741C>T; p.H247H; 2:181678120-181678120

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.457C>G; p.L153V; 2:181678404-181678404

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.232G>A; p.D78N; 2:181678629-181678629

skinmalignant_melanomaSubstitution - Missense

c.1009G>A; p.D337N; 2:181677852-181677852

skinmalignant_melanomaSubstitution - Missense

c.653C>A; p.P218H; 2:181678208-181678208

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.329A>G; p.E110G; 2:181678532-181678532

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.276T>A; p.T92T; 2:181678585-181678585

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.609G>T; p.M203I; 2:181678252-181678252

breastcarcinomaSubstitution - Missense

c.275C>A; p.T92N; 2:181678586-181678586

skinmalignant_melanomaSubstitution - Missense

c.561C>T; p.C187C; 2:181678300-181678300

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.251G>A; p.R84H; 2:181678610-181678610

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.828G>A; p.P276P; 2:181678033-181678033

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.267G>A; p.K89K; 2:181678594-181678594

breastcarcinomaSubstitution - coding silent

c.751G>A; p.A251T; 2:181678110-181678110

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.12G>A; p.S4S; 2:181678849-181678849

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.312G>A; p.M104I; 2:181678549-181678549

skinmalignant_melanomaSubstitution - Missense

c.634G>A; p.A212T; 2:181678227-181678227

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.969C>G; p.A323A; 2:181677892-181677892

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.969C>G; p.A323A; 2:181677892-181677892

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.825G>A; p.P275P; 2:181678036-181678036

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.842G>A; p.G281D; 2:181678019-181678019

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.616_617insC; p.H206fs*38; 2:181678244-181678245

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.943G>A; p.G315R; 2:181677918-181677918

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.616_617insC; p.H206fs*38; 2:181678244-181678245

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.328G>A; p.E110K; 2:181678533-181678533

skinmalignant_melanomaSubstitution - Missense

c.1036A>G; p.M346V; 2:181677825-181677825

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.709T>C; p.S237P; 2:181678152-181678152

skinmalignant_melanomaSubstitution - Missense

c.253G>A; p.G85S; 2:181678608-181678608

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.332G>C; p.R111P; 2:181678529-181678529

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.332G>C; p.R111P; 2:181678529-181678529

urinary_tract; bladdercarcinomaSubstitution - Missense

c.984C>T; p.I328I; 2:181677877-181677877

skinmalignant_melanomaSubstitution - coding silent

c.924G>A; p.L308L; 2:181677937-181677937

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.159G>T; p.L53L; 2:181678702-181678702

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.217G>A; p.E73K; 2:181678644-181678644

skinmalignant_melanomaSubstitution - Missense

c.654_655insC; p.Y219fs*25; 2:181678206-181678207

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.644C>T; p.P215L; 2:181678217-181678217

breastcarcinomaSubstitution - Missense

c.354C>T; p.N118N; 2:181678507-181678507

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.844A>T; p.N282Y; 2:181678017-181678017

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.151G>T; p.D51Y; 2:181678710-181678710

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.883A>G; p.K295E; 2:181677978-181677978

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.48C>A; p.P16P; 2:181678813-181678813

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.184G>A; p.E62K; 2:181678677-181678677

skinmalignant_melanomaSubstitution - Missense

c.184G>A; p.E62K; 2:181678677-181678677

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.789T>A; p.D263E; 2:181678072-181678072

breastcarcinomaSubstitution - Missense

c.338G>A; p.R113H; 2:181678523-181678523

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.338G>A; p.R113H; 2:181678523-181678523

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.115A>T; p.K39*; 2:181678746-181678746

ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.472C>A; p.R158S; 2:181678389-181678389

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.452G>T; p.W151L; 2:181678409-181678409

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.940C>A; p.H314N; 2:181677921-181677921

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.441G>T; p.K147N; 2:181678420-181678420

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.441G>T; p.K147N; 2:181678420-181678420

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.862G>T; p.E288*; 2:181677999-181677999

lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.427C>G; p.L143V; 2:181678434-181678434

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1063C>T; p.H355Y; 2:181677798-181677798

skinmalignant_melanomaSubstitution - Missense

c.223G>T; p.E75*; 2:181678638-181678638

lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.634G>T; p.A212S; 2:181678227-181678227

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.73G>C; p.E25Q; 2:181678788-181678788

urinary_tract; bladdercarcinomaSubstitution - Missense

c.133A>G; p.T45A; 2:181678728-181678728

prostateadenomaSubstitution - Missense

c.133A>G; p.T45A; 2:181678728-181678728

thyroidother; neoplasmSubstitution - Missense

c.973C>T; p.R325C; 2:181677888-181677888

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.116A>G; p.K39R; 2:181678745-181678745

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.116A>G; p.K39R; 2:181678745-181678745

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.450C>T; p.I150I; 2:181678411-181678411

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.450C>T; p.I150I; 2:181678411-181678411

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.546C>T; p.N182N; 2:181678315-181678315

breastcarcinomaSubstitution - coding silent

c.346G>C; p.G116R; 2:181678515-181678515

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.985C>T; p.P329S; 2:181677876-181677876

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.741C>G; p.H247Q; 2:181678120-181678120

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.72C>T; p.D24D; 2:181678789-181678789

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.72C>T; p.D24D; 2:181678789-181678789

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.616delC; p.H206fs*56; 2:181678245-181678245

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.530C>T; p.S177F; 2:181678331-181678331

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.681C>A; p.P227P; 2:181678180-181678180

ovaryother; neoplasmSubstitution - coding silent

c.681C>A; p.P227P; 2:181678180-181678180

ovaryother; neoplasmSubstitution - coding silent

c.226G>T; p.D76Y; 2:181678635-181678635

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.681C>A; p.P227P; 2:181678180-181678180

ovaryother; neoplasmSubstitution - coding silent

c.374G>A; p.R125H; 2:181678487-181678487

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.73G>A; p.E25K; 2:181678788-181678788

pancreascarcinomaSubstitution - Missense

c.745T>C; p.Y249H; 2:181678116-181678116

livercarcinomaSubstitution - Missense

c.73G>A; p.E25K; 2:181678788-181678788

pancreascarcinomaSubstitution - Missense

c.683G>T; p.S228I; 2:181678178-181678178

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.683G>T; p.S228I; 2:181678178-181678178

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.560G>A; p.C187Y; 2:181678301-181678301

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.437C>T; p.A146V; 2:181678424-181678424

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.726T>A; p.V242V; 2:181678135-181678135

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.346G>A; p.G116R; 2:181678515-181678515

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1042G>T; p.A348S; 2:181677819-181677819

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.284G>A; p.R95H; 2:181678577-181678577

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1024C>T; p.H342Y; 2:181677837-181677837

skinmalignant_melanomaSubstitution - Missense

c.357G>A; p.A119A; 2:181678504-181678504

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.485G>C; p.S162T; 2:181678376-181678376

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.126C>T; p.D42D; 2:181678735-181678735

prostateadenomaSubstitution - coding silent

c.687G>A; p.P229P; 2:181678174-181678174

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.597G>A; p.Q199Q; 2:181678264-181678264

skinmalignant_melanomaSubstitution - coding silent

c.102C>T; p.H34H; 2:181678759-181678759

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.326G>T; p.R109L; 2:181678535-181678535

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.138G>T; p.M46I; 2:181678723-181678723

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.934C>G; p.Q312E; 2:181677927-181677927

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.871G>A; p.A291T; 2:181677990-181677990

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.172G>C; p.E58Q; 2:181678689-181678689

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.117G>T; p.K39N; 2:181678744-181678744

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.94G>A; p.E32K; 2:181678767-181678767

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.141C>T; p.N47N; 2:181678720-181678720

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.555G>A; p.A185A; 2:181678306-181678306

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.782T>C; p.L261P; 2:181678079-181678079

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.141C>T; p.N47N; 2:181678720-181678720

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.141C>T; p.N47N; 2:181678720-181678720

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.141C>T; p.N47N; 2:181678720-181678720

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.664_665insC; p.Q222fs*22; 2:181678196-181678197

ovarycarcinoma; serous_carcinomaInsertion - Frameshift

c.555G>A; p.A185A; 2:181678306-181678306

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1046A>C; p.Q349P; 2:181677815-181677815

skinmalignant_melanomaSubstitution - Missense

c.141C>T; p.N47N; 2:181678720-181678720

pancreascarcinomaSubstitution - coding silent

c.264G>T; p.K88N; 2:181678597-181678597

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.872C>T; p.A291V; 2:181677989-181677989

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.264G>T; p.K88N; 2:181678597-181678597

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.912T>A; p.P304P; 2:181677949-181677949

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.420C>T; p.I140I; 2:181678441-181678441

skinmalignant_melanomaSubstitution - coding silent