Entrez Gene

Basic Information
Gene ID	1404
Name	HAPLN1
Synonymous	hyaluronan and proteoglycan link protein 1;HAPLN1;hyaluronan and proteoglycan link protein 1
Definition	Cartilage link protein\|cartilage linking protein 1\|cartilage-link protein\|cartilage-linking protein 1\|proteoglycan link protein
Position	5q14.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.782T>A; p.F261Y; 5:83641779-83641779	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.904G>A; p.D302N; 5:83641657-83641657	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.904G>A; p.D302N; 5:83641657-83641657	pancreas	carcinoma	Substitution - Missense
c.136C>A; p.Q46K; 5:83652789-83652789	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.270G>A; p.K90K; 5:83652655-83652655	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.257C>T; p.S86L; 5:83652668-83652668	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.257C>T; p.S86L; 5:83652668-83652668	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.778C>A; p.R260S; 5:83641783-83641783	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.812C>A; p.T271N; 5:83641749-83641749	ovary	other; neoplasm	Substitution - Missense
c.919G>T; p.G307C; 5:83641642-83641642	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.107A>G; p.N36S; 5:83652818-83652818	prostate	carcinoma	Substitution - Missense
c.970C>A; p.R324S; 5:83641591-83641591	skin	malignant_melanoma	Substitution - Missense
c.970C>A; p.R324S; 5:83641591-83641591	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.349G>C; p.G117R; 5:83652576-83652576	prostate	adenoma	Substitution - Missense
c.276G>A; p.V92V; 5:83652649-83652649	skin	malignant_melanoma	Substitution - coding silent
c.970C>A; p.R324S; 5:83641591-83641591	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.590C>A; p.A197D; 5:83644548-83644548	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.917C>T; p.A306V; 5:83641644-83641644	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.188T>G; p.F63C; 5:83652737-83652737	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.917C>T; p.A306V; 5:83641644-83641644	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.652C>A; p.P218T; 5:83644486-83644486	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.590C>T; p.A197V; 5:83644548-83644548	skin	malignant_melanoma	Substitution - Missense
c.985G>A; p.E329K; 5:83641576-83641576	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.179C>A; p.P60Q; 5:83652746-83652746	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.179C>A; p.P60Q; 5:83652746-83652746	liver	carcinoma	Substitution - Missense
c.985G>A; p.E329K; 5:83641576-83641576	breast	carcinoma	Substitution - Missense
c.1016A>T; p.D339V; 5:83641545-83641545	central_nervous_system; brain	glioma	Substitution - Missense
c.76C>T; p.H26Y; 5:83673448-83673448	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.76C>T; p.H26Y; 5:83673448-83673448	skin	malignant_melanoma	Substitution - Missense
c.585C>A; p.Y195*; 5:83644553-83644553	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.940G>A; p.V314I; 5:83641621-83641621	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.307A>C; p.K103Q; 5:83652618-83652618	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.778C>T; p.R260C; 5:83641783-83641783	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.595C>T; p.R199W; 5:83644543-83644543	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.939C>T; p.S313S; 5:83641622-83641622	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.939C>T; p.S313S; 5:83641622-83641622	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.446C>T; p.T149I; 5:83652479-83652479	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.284T>C; p.F95S; 5:83652641-83652641	skin	malignant_melanoma	Substitution - Missense
c.446C>T; p.T149I; 5:83652479-83652479	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.316G>A; p.G106R; 5:83652609-83652609	skin	malignant_melanoma	Substitution - Missense
c.372G>A; p.L124L; 5:83652553-83652553	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.259G>A; p.D87N; 5:83652666-83652666	skin	malignant_melanoma	Substitution - Missense
c.965G>T; p.R322I; 5:83641596-83641596	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.66T>G; p.Y22*; 5:83673458-83673458	skin	malignant_melanoma	Substitution - Nonsense
c.537G>T; p.Q179H; 5:83644601-83644601	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.537G>T; p.Q179H; 5:83644601-83644601	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.991G>T; p.A331S; 5:83641570-83641570	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.738C>A; p.S246R; 5:83644400-83644400	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.496C>T; p.R166*; 5:83644642-83644642	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.496C>T; p.R166*; 5:83644642-83644642	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.248A>G; p.K83R; 5:83652677-83652677	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.248A>G; p.K83R; 5:83652677-83652677	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.42G>T; p.W14C; 5:83673482-83673482	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.341T>C; p.L114P; 5:83652584-83652584	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.231C>A; p.I77I; 5:83652694-83652694	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.231C>A; p.I77I; 5:83652694-83652694	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.589G>A; p.A197T; 5:83644549-83644549	pancreas	carcinoma	Substitution - Missense
c.578A>G; p.Q193R; 5:83644560-83644560	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.589G>A; p.A197T; 5:83644549-83644549	pancreas	carcinoma	Substitution - Missense
c.494C>A; p.P165Q; 5:83644644-83644644	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.100G>A; p.A34T; 5:83673424-83673424	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.902A>G; p.Y301C; 5:83641659-83641659	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.634G>A; p.D212N; 5:83644504-83644504	skin	malignant_melanoma	Substitution - Missense
c.233G>A; p.R78Q; 5:83652692-83652692	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.440A>T; p.D147V; 5:83652485-83652485	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.352A>C; p.S118R; 5:83652573-83652573	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.614G>T; p.C205F; 5:83644524-83644524	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.146T>G; p.V49G; 5:83652779-83652779	pancreas	carcinoma	Substitution - Missense
c.477G>A; p.V159V; 5:83644661-83644661	skin	malignant_melanoma	Substitution - coding silent
c.980C>A; p.P327H; 5:83641581-83641581	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.531G>A; p.A177A; 5:83644607-83644607	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.715G>A; p.G239R; 5:83644423-83644423	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.169G>A; p.V57I; 5:83652756-83652756	skin	malignant_melanoma	Substitution - Missense
c.980C>A; p.P327H; 5:83641581-83641581	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.193C>T; p.R65*; 5:83652732-83652732	skin	malignant_melanoma	Substitution - Nonsense
c.310delA; p.T104fs*11; 5:83652615-83652615	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.396A>C; p.E132D; 5:83652529-83652529	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.898G>T; p.G300*; 5:83641663-83641663	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.898G>T; p.G300*; 5:83641663-83641663	liver	carcinoma	Substitution - Nonsense
c.898G>T; p.G300*; 5:83641663-83641663	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.898G>T; p.G300*; 5:83641663-83641663	liver	carcinoma	Substitution - Nonsense
c.574G>A; p.D192N; 5:83644564-83644564	skin	malignant_melanoma	Substitution - Missense
c.765C>A; p.S255S; 5:83644373-83644373	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.574G>A; p.D192N; 5:83644564-83644564	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.346G>A; p.G116R; 5:83652579-83652579	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.873G>T; p.Q291H; 5:83641688-83641688	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.621C>T; p.A207A; 5:83644517-83644517	pancreas	carcinoma	Substitution - coding silent
c.472G>T; p.G158C; 5:83652453-83652453	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.317G>A; p.G106E; 5:83652608-83652608	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.622G>A; p.G208S; 5:83644516-83644516	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.328G>A; p.G110S; 5:83652597-83652597	skin	malignant_melanoma	Substitution - Missense
c.375C>A; p.V125V; 5:83652550-83652550	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.394G>A; p.E132K; 5:83652531-83652531	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.721T>C; p.W241R; 5:83644417-83644417	skin	malignant_melanoma	Substitution - Missense
c.740G>A; p.R247K; 5:83644398-83644398	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.970C>T; p.R324C; 5:83641591-83641591	pancreas	carcinoma	Substitution - Missense
c.231C>T; p.I77I; 5:83652694-83652694	skin	malignant_melanoma	Substitution - coding silent
c.108T>G; p.N36K; 5:83652817-83652817	breast	carcinoma	Substitution - Missense
c.1043A>T; p.Y348F; 5:83641518-83641518	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.361G>A; p.D121N; 5:83652564-83652564	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.290C>T; p.S97F; 5:83652635-83652635	skin	malignant_melanoma	Substitution - Missense
c.564C>T; p.I188I; 5:83644574-83644574	skin	malignant_melanoma	Substitution - coding silent
c.977G>A; p.S326N; 5:83641584-83641584	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.328G>T; p.G110C; 5:83652597-83652597	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1061A>C; p.N354T; 5:83641500-83641500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1002C>T; p.F334F; 5:83641559-83641559	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.681G>T; p.G227G; 5:83644457-83644457	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.49C>T; p.H17Y; 5:83673475-83673475	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.72G>A; p.L24L; 5:83673452-83673452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.453G>T; p.V151V; 5:83652472-83652472	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.689A>G; p.N230S; 5:83644449-83644449	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.998G>A; p.R333H; 5:83641563-83641563	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.998G>A; p.R333H; 5:83641563-83641563	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.998G>A; p.R333H; 5:83641563-83641563	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.723G>T; p.W241C; 5:83644415-83644415	thyroid	carcinoma	Substitution - Missense
c.505C>T; p.R169C; 5:83644633-83644633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.760A>G; p.T254A; 5:83644378-83644378	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.59A>G; p.D20G; 5:83673465-83673465	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.9T>A; p.S3R; 5:83673515-83673515	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1041C>T; p.V347V; 5:83641520-83641520	central_nervous_system; brain	glioma	Substitution - coding silent
c.716G>A; p.G239E; 5:83644422-83644422	skin; neck	malignant_melanoma	Substitution - Missense
c.716G>A; p.G239E; 5:83644422-83644422	skin	malignant_melanoma	Substitution - Missense
c.716G>A; p.G239E; 5:83644422-83644422	skin	malignant_melanoma	Substitution - Missense
c.580C>A; p.L194M; 5:83644558-83644558	large_intestine	adenoma	Substitution - Missense
c.948C>T; p.Y316Y; 5:83641613-83641613	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.906_907CC>AA; p.D302_R303>ES; 5:83641654-83641655	lung	carcinoma; adenocarcinoma	Complex - compound substitution
c.698C>A; p.P233H; 5:83644440-83644440	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.315T>A; p.Y105*; 5:83652610-83652610	skin	malignant_melanoma	Substitution - Nonsense
c.792G>A; p.L264L; 5:83641769-83641769	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.204A>G; p.T68T; 5:83652721-83652721	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.237T>C; p.I79I; 5:83652688-83652688	skin	malignant_melanoma	Substitution - coding silent
c.497G>A; p.R166Q; 5:83644641-83644641	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.485C>A; p.P162H; 5:83644653-83644653	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.526G>A; p.E176K; 5:83644612-83644612	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.497G>A; p.R166Q; 5:83644641-83644641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.497G>A; p.R166Q; 5:83644641-83644641	skin	malignant_melanoma	Substitution - Missense
c.530C>T; p.A177V; 5:83644608-83644608	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.538G>T; p.A180S; 5:83644600-83644600	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.347G>A; p.G116E; 5:83652578-83652578	skin	malignant_melanoma	Substitution - Missense
c.359G>T; p.S120I; 5:83652566-83652566	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.700G>A; p.G234R; 5:83644438-83644438	urinary_tract; bladder	carcinoma	Substitution - Missense
c.700G>A; p.G234R; 5:83644438-83644438	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.700G>A; p.G234R; 5:83644438-83644438	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.997C>T; p.R333C; 5:83641564-83641564	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.779G>A; p.R260H; 5:83641782-83641782	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.779G>A; p.R260H; 5:83641782-83641782	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.917C>A; p.A306E; 5:83641644-83641644	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.937A>T; p.S313C; 5:83641624-83641624	pancreas	carcinoma	Substitution - Missense
c.937A>T; p.S313C; 5:83641624-83641624	pancreas	carcinoma	Substitution - Missense
c.937A>T; p.S313C; 5:83641624-83641624	pancreas	carcinoma	Substitution - Missense
c.684G>C; p.G228G; 5:83644454-83644454	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.503G>A; p.G168E; 5:83644635-83644635	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.971G>A; p.R324H; 5:83641590-83641590	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.971G>A; p.R324H; 5:83641590-83641590	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.364G>A; p.A122T; 5:83652561-83652561	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.310_311insA; p.T104fs*8; 5:83652614-83652615	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.310_311insA; p.T104fs*8; 5:83652614-83652615	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.290C>A; p.S97Y; 5:83652635-83652635	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.840C>T; p.L280L; 5:83641721-83641721	skin	malignant_melanoma	Substitution - coding silent
c.25C>T; p.L9L; 5:83673499-83673499	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.560T>C; p.V187A; 5:83644578-83644578	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.596G>A; p.R199Q; 5:83644542-83644542	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.596G>A; p.R199Q; 5:83644542-83644542	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.899G>C; p.G300A; 5:83641662-83641662	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.673C>T; p.P225S; 5:83644465-83644465	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.573C>T; p.F191F; 5:83644565-83644565	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.466T>C; p.L156L; 5:83652459-83652459	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]