Entrez Gene

Basic Information
Gene ID	65057
Name	ACD
Synonymous	adrenocortical dysplasia homolog (mouse);ACD;adrenocortical dysplasia homolog (mouse)
Definition	POT1 and TIN2 organizing protein\|POT1 and TIN2-interacting protein\|TIN2 interacting protein 1\|adrenocortical dysplasia protein homolog
Position	16q22.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1337C>T; p.T446I; 16:67658104-67658104	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1337C>T; p.T446I; 16:67658104-67658104	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1399C>T; p.P467S; 16:67658042-67658042	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1603G>T; p.G535W; 16:67657629-67657629	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1253G>A; p.R418H; 16:67658188-67658188	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.188C>T; p.P63L; 16:67660291-67660291	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.188C>T; p.P63L; 16:67660291-67660291	skin	malignant_melanoma	Substitution - Missense
c.725C>A; p.S242Y; 16:67659246-67659246	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1141C>T; p.P381S; 16:67658300-67658300	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1400C>T; p.P467L; 16:67658041-67658041	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1396C>T; p.R466W; 16:67658045-67658045	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1054C>A; p.P352T; 16:67658579-67658579	skin	malignant_melanoma	Substitution - Missense
c.895G>A; p.G299R; 16:67658816-67658816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1016C>T; p.P339L; 16:67658617-67658617	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1231C>A; p.P411T; 16:67658210-67658210	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.505T>G; p.F169V; 16:67659782-67659782	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1408C>T; p.P470S; 16:67658033-67658033	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.283C>G; p.L95V; 16:67660196-67660196	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1275G>A; p.Q425Q; 16:67658166-67658166	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.187C>T; p.P63S; 16:67660292-67660292	skin	malignant_melanoma	Substitution - Missense
c.79G>A; p.G27R; 16:67660400-67660400	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.187C>T; p.P63S; 16:67660292-67660292	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.131G>A; p.G44D; 16:67660348-67660348	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1544T>G; p.V515G; 16:67657765-67657765	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.291C>T; p.P97P; 16:67660188-67660188	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.153C>G; p.L51L; 16:67660326-67660326	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1208G>A; p.C403Y; 16:67658233-67658233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1455+3G>T; p.?; 16:67657983-67657983	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Unknown
c.1455+3G>T; p.?; 16:67657983-67657983	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Unknown
c.60A>T; p.A20A; 16:67660419-67660419	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1620G>T; p.P540P; 16:67657612-67657612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1109_1110CC>TT; p.S370F; 16:67658331-67658332	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.154C>A; p.L52I; 16:67660325-67660325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.154C>A; p.L52I; 16:67660325-67660325	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1102A>G; p.M368V; 16:67658339-67658339	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.171G>A; p.A57A; 16:67660308-67660308	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.181C>T; p.P61S; 16:67660298-67660298	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.181C>T; p.P61S; 16:67660298-67660298	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.181C>T; p.P61S; 16:67660298-67660298	skin	malignant_melanoma	Substitution - Missense
c.181C>T; p.P61S; 16:67660298-67660298	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.257G>T; p.G86V; 16:67660222-67660222	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.408C>T; p.D136D; 16:67659986-67659986	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1214C>T; p.A405V; 16:67658227-67658227	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.100C>T; p.R34*; 16:67660379-67660379	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1096G>A; p.G366S; 16:67658345-67658345	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.633G>T; p.T211T; 16:67659566-67659566	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.151C>T; p.L51F; 16:67660328-67660328	skin	malignant_melanoma	Substitution - Missense
c.151C>T; p.L51F; 16:67660328-67660328	skin	malignant_melanoma	Substitution - Missense
c.151C>T; p.L51F; 16:67660328-67660328	skin	malignant_melanoma	Substitution - Missense
c.1066C>A; p.P356T; 16:67658567-67658567	urinary_tract; bladder	carcinoma	Substitution - Missense
c.335C>T; p.P112L; 16:67660144-67660144	skin	malignant_melanoma	Substitution - Missense
c.229C>G; p.P77A; 16:67660250-67660250	breast	carcinoma	Substitution - Missense
c.794A>G; p.Q265R; 16:67659028-67659028	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.731C>T; p.S244L; 16:67659240-67659240	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1403C>T; p.P468L; 16:67658038-67658038	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1403C>T; p.P468L; 16:67658038-67658038	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.542_544delTGC; p.L181delL; 16:67659743-67659745	skin	malignant_melanoma	Deletion - In frame
c.542_544delTGC; p.L181delL; 16:67659743-67659745	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.542_544delTGC; p.L181delL; 16:67659743-67659745	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1301G>A; p.R434H; 16:67658140-67658140	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.559C>T; p.H187Y; 16:67659728-67659728	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1398G>A; p.R466R; 16:67658043-67658043	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1398G>A; p.R466R; 16:67658043-67658043	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.866A>G; p.H289R; 16:67658956-67658956	thyroid	carcinoma	Substitution - Missense
c.871G>A; p.A291T; 16:67658951-67658951	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1548G>A; p.R516R; 16:67657684-67657684	pancreas	NS	Substitution - coding silent
c.1281C>T; p.C427C; 16:67658160-67658160	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1281C>T; p.C427C; 16:67658160-67658160	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.306G>A; p.L102L; 16:67660173-67660173	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.184C>T; p.L62F; 16:67660295-67660295	skin	malignant_melanoma	Substitution - Missense
c.184C>T; p.L62F; 16:67660295-67660295	skin	malignant_melanoma	Substitution - Missense
c.184C>T; p.L62F; 16:67660295-67660295	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.294G>A; p.W98*; 16:67660185-67660185	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1430G>A; p.G477E; 16:67658011-67658011	urinary_tract; bladder	carcinoma	Substitution - Missense
c.299G>T; p.R100L; 16:67660180-67660180	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.299G>T; p.R100L; 16:67660180-67660180	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.221A>G; p.N74S; 16:67660258-67660258	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1474C>T; p.R492C; 16:67657835-67657835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1474C>T; p.R492C; 16:67657835-67657835	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.739G>A; p.A247T; 16:67659232-67659232	urinary_tract; bladder	carcinoma	Substitution - Missense
c.138T>C; p.R46R; 16:67660341-67660341	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1286C>T; p.P429L; 16:67658155-67658155	skin	malignant_melanoma	Substitution - Missense
c.1455G>T; p.W485C; 16:67657986-67657986	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.562G>A; p.V188I; 16:67659725-67659725	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.87G>A; p.L29L; 16:67660392-67660392	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.87G>A; p.L29L; 16:67660392-67660392	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.538C>T; p.L180L; 16:67659749-67659749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.153C>T; p.L51L; 16:67660326-67660326	skin	malignant_melanoma	Substitution - coding silent
c.153C>T; p.L51L; 16:67660326-67660326	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.153C>T; p.L51L; 16:67660326-67660326	skin	malignant_melanoma	Substitution - coding silent
c.125C>T; p.A42V; 16:67660354-67660354	ovary	other; neoplasm	Substitution - Missense
c.167C>T; p.P56L; 16:67660312-67660312	skin	malignant_melanoma	Substitution - Missense
c.96C>T; p.G32G; 16:67660383-67660383	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.240G>A; p.P80P; 16:67660239-67660239	central_nervous_system; brain	glioma	Substitution - coding silent
c.1244A>C; p.H415P; 16:67658197-67658197	urinary_tract; bladder	carcinoma	Substitution - Missense
c.615C>T; p.R205R; 16:67659584-67659584	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.829A>C; p.T277P; 16:67658993-67658993	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.865delC; p.H289fs*30; 16:67658957-67658957	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.202G>A; p.A68T; 16:67660277-67660277	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]