Cancer metastasis database

Annotation category 5

Gene information

Gene ID 23210
Symbol

JMJD6

Synonymous

PSR|PTDSR|PTDSR1

Full name

jumonji domain containing 6

Gene description

bifunctional arginine demethylase and lysyl-hydroxylase JMJD6|histone arginine demethylase JMJD6|jmjC domain-containing protein 6|jumonji domain-containing protein 6|lysyl-hydroxylase JMJD6|peptide-lysine 5-dioxygenase JMJD6|phosphatidylserine receptor

Cytoband

17q25

Gene type

protein-coding

Synonymous

MIM:604914; HGNC:HGNC:19355; Ensembl:ENSG00000070495; HPRD:05371; Vega:OTTHUMG00000169267

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.944T>G; p.I315S; 17:76720496-76720496

 breastcarcinomaSubstitution - Missense

c.748C>T; p.P250S; 17:76723829-76723829

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1195C>T; p.R399C; 17:76718746-76718746

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.479T>C; p.L160P; 17:76725506-76725506

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.444_445insA; p.D149fs*10; 17:76725540-76725541

 large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.413G>A; p.G138D; 17:76725572-76725572

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.588G>T; p.W196C; 17:76723989-76723989

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.869G>T; p.S290I; 17:76721870-76721870

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.185G>T; p.R62L; 17:76725800-76725800

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.651C>T; p.L217L; 17:76723926-76723926

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.185G>T; p.R62L; 17:76725800-76725800

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.185G>T; p.R62L; 17:76725800-76725800

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1033G>A; p.D345N; 17:76720407-76720407

 central_nervous_system; braingliomaSubstitution - Missense

c.711T>A; p.N237K; 17:76723866-76723866

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.540A>G; p.P180P; 17:76724037-76724037

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.877A>G; p.N293D; 17:76721862-76721862

 skin; upper_armmalignant_melanomaSubstitution - Missense

c.386C>T; p.P129L; 17:76725599-76725599

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1117C>T; p.R373C; 17:76718824-76718824

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.775C>A; p.Q259K; 17:76723802-76723802

 skin; upper_armmalignant_melanomaSubstitution - Missense

c.463T>G; p.F155V; 17:76725522-76725522

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.370A>G; p.T124A; 17:76725615-76725615

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.185G>A; p.R62Q; 17:76725800-76725800

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1136C>T; p.T379M; 17:76718805-76718805

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1136C>T; p.T379M; 17:76718805-76718805

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1136C>T; p.T379M; 17:76718805-76718805

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.802C>T; p.P268S; 17:76723775-76723775

 skinmalignant_melanomaSubstitution - Missense

c.754T>A; p.F252I; 17:76723823-76723823

 breastcarcinomaSubstitution - Missense

c.571C>T; p.L191L; 17:76724006-76724006

 skinmalignant_melanomaSubstitution - coding silent

c.1121G>T; p.R374M; 17:76718820-76718820

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.239C>A; p.S80Y; 17:76725746-76725746

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.912G>T; p.G304G; 17:76721827-76721827

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.854C>T; p.T285I; 17:76721885-76721885

 pancreascarcinomaSubstitution - Missense

c.663C>T; p.T221T; 17:76723914-76723914

 skinmalignant_melanomaSubstitution - coding silent

c.184C>T; p.R62W; 17:76725801-76725801

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.184C>T; p.R62W; 17:76725801-76725801

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.184C>T; p.R62W; 17:76725801-76725801

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.548G>A; p.G183E; 17:76724029-76724029

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.552T>C; p.T184T; 17:76724025-76724025

 skinmalignant_melanomaSubstitution - coding silent

c.724C>T; p.R242W; 17:76723853-76723853

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.224C>T; p.A75V; 17:76725761-76725761

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.28C>G; p.R10G; 17:76726448-76726448

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.628C>T; p.P210S; 17:76723949-76723949

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.327A>G; p.S109S; 17:76725658-76725658

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.184C>A; p.R62R; 17:76725801-76725801

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1080+1G>C; p.?; 17:76720359-76720359

 pancreascarcinoid-endocrine_tumourUnknown

c.813G>C; p.W271C; 17:76721926-76721926

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1115A>G; p.H372R; 17:76718826-76718826

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.96C>T; p.Y32Y; 17:76726380-76726380

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.22C>A; p.R8S; 17:76726454-76726454

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1196G>A; p.R399H; 17:76718745-76718745

 oesophaguscarcinomaSubstitution - Missense

c.865G>A; p.A289T; 17:76721874-76721874

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1029C>T; p.S343S; 17:76720411-76720411

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.130-1G>A; p.?; 17:76725856-76725856

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.1176C>T; p.D392D; 17:76718765-76718765

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.926C>G; p.S309*; 17:76721813-76721813

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.307G>A; p.E103K; 17:76725678-76725678

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.219G>A; p.L73L; 17:76725766-76725766

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.219G>A; p.L73L; 17:76725766-76725766

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.690C>T; p.D230D; 17:76723887-76723887

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.518G>T; p.R173M; 17:76725467-76725467

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.559C>A; p.H187N; 17:76724018-76724018

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense