Cancer metastasis database

Annotation category 5

Gene information

Gene ID 2495
Symbol

FTH1

Synonymous

FHC|FTH|FTHL6|HFE5|PIG15|PLIF

Full name

ferritin, heavy polypeptide 1

Gene description

apoferritin|cell proliferation-inducing gene 15 protein|ferritin H subunit|ferritin heavy chain|placenta immunoregulatory factor|proliferation-inducing protein 15

Cytoband

11q13

Gene type

protein-coding

Synonymous

MIM:134770; HGNC:HGNC:3976; Ensembl:ENSG00000167996; HPRD:00615; Vega:OTTHUMG00000166217

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.430A>G; p.K144E; 11:61964849-61964849

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.86T>A; p.L29H; 11:61967340-61967340

 NSmalignant_melanomaSubstitution - Missense

c.96C>T; p.S32S; 11:61967330-61967330

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.114G>75; p.E63fs*12; 11:61967312-61967312

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IIIUnknown

c.285G>C; p.E95D; 11:61965089-61965089

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.287G>T; p.S96I; 11:61965087-61965087

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.209T>C; p.L70P; 11:61965421-61965421

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.332T>C; p.V111A; 11:61965042-61965042

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.184G>C; p.E62Q; 11:61965446-61965446

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.377A>G; p.N126S; 11:61964997-61964997

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.99C>A; p.Y33*; 11:61967327-61967327

 skin; trunkmalignant_melanomaSubstitution - Nonsense

c.51A>C; p.S17S; 11:61967375-61967375

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.152_162del11; p.N51fs*8; 11:61965468-61965478

 livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.497T>A; p.L166*; 11:61964782-61964782

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.288C>T; p.S96S; 11:61965086-61965086

 oesophaguscarcinomaSubstitution - coding silent

c.292C>T; p.L98L; 11:61965082-61965082

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.127G>A; p.D43N; 11:61965503-61965503

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.238C>T; p.R80*; 11:61965392-61965392

 skinmalignant_melanomaSubstitution - Nonsense

c.403G>A; p.E135K; 11:61964876-61964876

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.157G>C; p.A53P; 11:61965473-61965473

 central_nervous_system; braingliomaSubstitution - Missense

c.414C>A; p.Y138*; 11:61964865-61964865

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.329delA; p.N110fs*2; 11:61965045-61965045

 stomachadenocarcinomaDeletion - Frameshift

c.508C>G; p.L170V; 11:61964771-61964771

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.213G>A; p.M71I; 11:61965417-61965417

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.46G>T; p.D16Y; 11:61967380-61967380

 pleurapulmonary_blastomaSubstitution - Missense

c.46G>T; p.D16Y; 11:61967380-61967380

 NSmalignant_melanomaSubstitution - Missense

c.471C>G; p.R157R; 11:61964808-61964808

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.484C>T; p.P162S; 11:61964795-61964795

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.115-1G>C; p.?; 11:61965516-61965516

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.481G>A; p.A161T; 11:61964798-61964798

 skinmalignant_melanomaSubstitution - Missense

c.268G>A; p.D90N; 11:61965106-61965106

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.118T>C; p.Y40H; 11:61965512-61965512

 skinmalignant_melanomaSubstitution - Missense

c.118T>C; p.Y40H; 11:61965512-61965512

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.500C>T; p.A167V; 11:61964779-61964779

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.385C>T; p.H129Y; 11:61964989-61964989

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense