Entrez Gene

Basic Information
Gene ID	1749
Name	DLX5
Synonymous	distal-less homeobox 5;DLX5;distal-less homeobox 5
Definition	distal-less homeo box 5\|homeobox protein DLX-5\|split hand/foot malformation type 1 with sensorineural hearing loss
Position	7q22
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.681G>T; p.Q227H; 7:97020925-97020925	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.869A>T; p.*290L; 7:97020737-97020737	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Nonstop extension
c.723T>C; p.P241P; 7:97020883-97020883	breast	carcinoma	Substitution - coding silent
c.499C>T; p.R167C; 7:97022226-97022226	breast	carcinoma	Substitution - Missense
c.37C>T; p.R13*; 7:97024587-97024587	breast	carcinoma	Substitution - Nonsense
c.454T>C; p.L152L; 7:97022271-97022271	breast	carcinoma	Substitution - coding silent
c.590A>C; p.K197T; 7:97021016-97021016	breast	carcinoma	Substitution - Missense
c.653C>T; p.P218L; 7:97020953-97020953	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.434C>G; p.S145C; 7:97022291-97022291	central_nervous_system; brain	glioma	Substitution - Missense
c.395G>T; p.G132V; 7:97022330-97022330	central_nervous_system; brain	glioma	Substitution - Missense
c.769G>A; p.A257T; 7:97020837-97020837	central_nervous_system; brain	glioma	Substitution - Missense
c.697C>T; p.L233F; 7:97020909-97020909	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.630C>A; p.S210R; 7:97020976-97020976	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.340G>A; p.A114T; 7:97024284-97024284	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.496G>C; p.E166Q; 7:97022229-97022229	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.69G>A; p.T23T; 7:97024555-97024555	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.252C>T; p.A84A; 7:97024372-97024372	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.319G>A; p.A107T; 7:97024305-97024305	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.68C>A; p.T23K; 7:97024556-97024556	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.678C>T; p.P226P; 7:97020928-97020928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.90G>A; p.P30P; 7:97024534-97024534	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.684C>G; p.G228G; 7:97020922-97020922	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.120T>C; p.S40S; 7:97024504-97024504	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.158_159insG; p.A54fs*43; 7:97024465-97024466	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.165G>A; p.P55P; 7:97024459-97024459	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.93T>G; p.S31S; 7:97024531-97024531	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.262C>T; p.P88S; 7:97024362-97024362	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.310T>C; p.Y104H; 7:97024314-97024314	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.310T>C; p.Y104H; 7:97024314-97024314	large_intestine; colon	carcinoma	Substitution - Missense
c.654G>A; p.P218P; 7:97020952-97020952	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.134C>A; p.S45Y; 7:97024490-97024490	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.324C>T; p.Y108Y; 7:97024300-97024300	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.243C>T; p.N81N; 7:97024381-97024381	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.666G>A; p.A222A; 7:97020940-97020940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.413G>A; p.R138H; 7:97022312-97022312	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.546A>C; p.K182N; 7:97021060-97021060	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.819G>A; p.P273P; 7:97020787-97020787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.158delG; p.G53fs*28; 7:97024466-97024466	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.500G>A; p.R167H; 7:97022225-97022225	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.500G>A; p.R167H; 7:97022225-97022225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.138C>T; p.D46D; 7:97024486-97024486	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.280G>A; p.D94N; 7:97024344-97024344	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.280G>A; p.D94N; 7:97024344-97024344	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.653C>T; p.P218L; 7:97020953-97020953	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.478C>A; p.Q160K; 7:97022247-97022247	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.792C>A; p.A264A; 7:97020814-97020814	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.387_388GG>TT; p.M129_V130>IL; 7:97022337-97022338	lung	carcinoma; adenocarcinoma	Complex - compound substitution
c.368C>A; p.T123N; 7:97022357-97022357	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.691C>A; p.R231S; 7:97020915-97020915	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.725C>G; p.P242R; 7:97020881-97020881	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.549C>A; p.I183I; 7:97021057-97021057	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.793A>G; p.S265G; 7:97020813-97020813	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.331G>C; p.V111L; 7:97024293-97024293	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.311A>G; p.Y104C; 7:97024313-97024313	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.823G>T; p.G275C; 7:97020783-97020783	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.566G>C; p.R189T; 7:97021040-97021040	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.653C>A; p.P218Q; 7:97020953-97020953	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.777G>C; p.W259C; 7:97020829-97020829	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.689C>G; p.S230C; 7:97020917-97020917	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.373C>A; p.P125T; 7:97022352-97022352	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.442C>T; p.Q148*; 7:97022283-97022283	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.691C>T; p.R231C; 7:97020915-97020915	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.819_820GC>AA; p.P274T; 7:97020786-97020787	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.641C>T; p.A214V; 7:97020965-97020965	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.442C>T; p.Q148*; 7:97022283-97022283	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.119C>G; p.S40C; 7:97024505-97024505	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.48C>A; p.D16E; 7:97024576-97024576	pancreas	carcinoma	Substitution - Missense
c.235G>A; p.G79S; 7:97024389-97024389	pancreas	carcinoma	Substitution - Missense
c.239T>A; p.V80E; 7:97024385-97024385	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.451G>A; p.A151T; 7:97022274-97022274	prostate	adenoma	Substitution - Missense
c.518C>T; p.S173L; 7:97022207-97022207	skin	malignant_melanoma	Substitution - Missense
c.310T>A; p.Y104N; 7:97024314-97024314	skin	malignant_melanoma	Substitution - Missense
c.724C>T; p.P242S; 7:97020882-97020882	skin	malignant_melanoma	Substitution - Missense
c.760G>A; p.E254K; 7:97020846-97020846	skin	malignant_melanoma	Substitution - Missense
c.746C>T; p.A249V; 7:97020860-97020860	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.369C>T; p.T123T; 7:97022356-97022356	skin	malignant_melanoma	Substitution - coding silent
c.540G>A; p.Q180Q; 7:97022185-97022185	skin	malignant_melanoma	Substitution - coding silent
c.814C>T; p.P272S; 7:97020792-97020792	skin	malignant_melanoma	Substitution - Missense
c.806C>T; p.S269F; 7:97020800-97020800	skin	malignant_melanoma	Substitution - Missense
c.412C>T; p.R138C; 7:97022313-97022313	skin; mucosal	malignant_melanoma	Substitution - Missense
c.524G>A; p.G175E; 7:97022201-97022201	skin; mucosal	malignant_melanoma	Substitution - Missense
c.149C>T; p.P50L; 7:97024475-97024475	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.514G>A; p.A172T; 7:97022211-97022211	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.846G>A; p.A282A; 7:97020760-97020760	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.845C>T; p.A282V; 7:97020761-97020761	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.250G>A; p.A84T; 7:97024374-97024374	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.432T>G; p.Y144*; 7:97022293-97022293	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.505G>A; p.E169K; 7:97022220-97022220	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.235G>A; p.G79S; 7:97024389-97024389	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.650C>T; p.S217L; 7:97020956-97020956	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.232C>T; p.H78Y; 7:97024392-97024392	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.232C>T; p.H78Y; 7:97024392-97024392	urinary_tract; bladder	carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

Bioinformatics and cancer genomics links

Bioinformatics centers

Bioinformatics centers

Welcome to Bioinfo-MinZhao!