Cancer metastasis database

Annotation category 5

Gene information

Gene ID 3240
Symbol

HP

Synonymous

BP|HP2ALPHA2|HPA1S

Full name

haptoglobin

Gene description

binding peptide|haptoglobin alpha(1S)-beta|haptoglobin alpha(2FS)-beta|haptoglobin, alpha polypeptide|haptoglobin, beta polypeptide|zonulin

Cytoband

16q22.2

Gene type

protein-coding

Synonymous

MIM:140100; HGNC:HGNC:5141; Ensembl:ENSG00000257017; HPRD:00772; Vega:OTTHUMG00000173009

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.963G>A; p.K321K; 16:72060632-72060632

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.782G>A; p.R261K; 16:72060451-72060451

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1160G>A; p.G387D; 16:72060829-72060829

 skinmalignant_melanomaSubstitution - Missense

c.1170G>A; p.V390V; 16:72060839-72060839

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.483G>A; p.R161R; 16:72060152-72060152

 skinmalignant_melanomaSubstitution - coding silent

c.78G>A; p.T26T; 16:72056233-72056233

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.642G>A; p.A214A; 16:72060311-72060311

 skinmalignant_melanomaSubstitution - coding silent

c.1059C>T; p.G353G; 16:72060728-72060728

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.368-2A>G; p.?; 16:72059112-72059112

 livercarcinomaUnknown

c.997A>G; p.I333V; 16:72060666-72060666

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.702G>A; p.E234E; 16:72060371-72060371

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1088A>G; p.D363G; 16:72060757-72060757

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.1113G>A; p.A371A; 16:72060782-72060782

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1081G>A; p.V361I; 16:72060750-72060750

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.719C>A; p.P240H; 16:72060388-72060388

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.393G>A; p.K131K; 16:72059139-72059139

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.806C>A; p.S269*; 16:72060475-72060475

 livercarcinomaSubstitution - Nonsense

c.806C>A; p.S269*; 16:72060475-72060475

 livercarcinomaSubstitution - Nonsense

c.834G>A; p.V278V; 16:72060503-72060503

 skinmalignant_melanomaSubstitution - coding silent

c.1065G>A; p.A355A; 16:72060734-72060734

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.888G>A; p.L296L; 16:72060557-72060557

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.688C>G; p.L230V; 16:72060357-72060357

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.33G>A; p.L11L; 16:72056188-72056188

 thyroidcarcinomaSubstitution - coding silent

c.16G>C; p.A6P; 16:72056171-72056171

 oesophaguscarcinomaSubstitution - Missense

c.1106G>A; p.W369*; 16:72060775-72060775

 skinmalignant_melanomaSubstitution - Nonsense

c.919G>T; p.D307Y; 16:72060588-72060588

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1055A>G; p.Y352C; 16:72060724-72060724

 livercarcinomaSubstitution - Missense

c.857G>A; p.R286Q; 16:72060526-72060526

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.857G>A; p.R286Q; 16:72060526-72060526

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.857G>A; p.R286Q; 16:72060526-72060526

 bone; pelvischondrosarcomaSubstitution - Missense

c.826G>A; p.G276R; 16:72060495-72060495

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.586T>A; p.W196R; 16:72060255-72060255

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1087G>A; p.D363N; 16:72060756-72060756

 skinmalignant_melanomaSubstitution - Missense

c.791C>A; p.P264H; 16:72060460-72060460

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.88+2T>C; p.?; 16:72056245-72056245

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.612C>T; p.L204L; 16:72060281-72060281

 breastcarcinomaSubstitution - coding silent

c.1098G>A; p.E366E; 16:72060767-72060767

 skinmalignant_melanomaSubstitution - coding silent

c.715C>A; p.H239N; 16:72060384-72060384

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.6-8C>G; p.?; 16:72056153-72056153

 breastcarcinomaUnknown

c.972G>A; p.P324P; 16:72060641-72060641

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.385A>G; p.N129D; 16:72059131-72059131

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.829C>T; p.R277C; 16:72060498-72060498

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.459G>T; p.K153N; 16:72060128-72060128

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1001T>A; p.L334Q; 16:72060670-72060670

 livercarcinomaSubstitution - Missense

c.1001T>A; p.L334Q; 16:72060670-72060670

 livercarcinomaSubstitution - Missense

c.372G>A; p.V124V; 16:72059118-72059118

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.372G>A; p.V124V; 16:72059118-72059118

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.336G>T; p.K112N; 16:72058324-72058324

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.430G>A; p.E144K; 16:72059176-72059176

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.894T>C; p.Y298Y; 16:72060563-72060563

 skinmalignant_melanomaSubstitution - coding silent

c.1121T>C; p.I374T; 16:72060790-72060790

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.858A>G; p.R286R; 16:72060527-72060527

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1147G>A; p.V383M; 16:72060816-72060816

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.392A>T; p.K131M; 16:72059138-72059138

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense