| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5310 |
Name | PKD1 |
Synonymous | PBP|Pc-1|TRPP1;polycystic kidney disease 1 (autosomal dominant);PKD1;polycystic kidney disease 1 (autosomal dominant) |
Definition | autosomal dominant polycystic kidney disease 1 protein|polycystic kidney disease-associated protein|polycystin 1|polycystin-1|transient receptor potential cation channel, subfamily P, member 1 |
Position | 16p13.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PKD1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
PKD1_Y2181*; chr16; 2158625 |
SUB; NONSENSE; G; G/T; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.5290G>C; p.E1764Q; |
lung | carcinoma; small_cell_carcinoma |
c.3865G>T; p.V1289L; |
lung | carcinoma; small_cell_carcinoma |
c.6281G>T; p.W2094L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4760G>A; p.R1587H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10958C>T; p.A3653V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7210-1G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3035C>T; p.T1012I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10138T>C; p.F3380L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5710C>A; p.L1904M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10505G>A; p.S3502N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10325C>T; p.A3442V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8851C>T; p.R2951W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10039T>C; p.S3347P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8687C>T; p.S2896F; |
skin; abdomen | malignant_melanoma |
c.9411C>T; p.H3137H; |
liver | carcinoma |
c.10886C>T; p.T3629I; 16:2083676-2083676 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3003C>T; p.H1001H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.4504C>A; p.L1502M; |
oesophagus | carcinoma; adenocarcinoma |
c.2990C>T; p.T997M; |
oesophagus | carcinoma; adenocarcinoma |
c.4288G>A; p.E1430K; |
oesophagus | carcinoma; adenocarcinoma |
c.3668T>C; p.V1223A; |
oesophagus | carcinoma; adenocarcinoma |
c.6086C>T; p.T2029M; |
oesophagus | carcinoma; adenocarcinoma |
c.6289G>T; p.G2097W; |
lung | carcinoma; adenocarcinoma |
c.12226C>G; p.P4076A; |
liver | carcinoma |
c.12667C>T; p.L4223F; |
liver | carcinoma |
c.10488G>A; p.L3496L; |
liver | carcinoma |
c.8896G>C; p.E2966Q; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.5579delG; p.G1860fs*89; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.10932C>T; p.P3644P; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.5800delC; p.R1935fs*14; |
lung | carcinoma; adenocarcinoma |
c.8580G>C; p.Q2860H; |
lung | carcinoma; adenocarcinoma |
c.8510G>C; p.G2837A; |
lung | carcinoma; adenocarcinoma |
c.5206G>T; p.V1736F; |
lung | carcinoma; adenocarcinoma |
c.2814G>T; p.T938T; |
lung | carcinoma; adenocarcinoma |
c.6124G>T; p.A2042S; |
lung | carcinoma; adenocarcinoma |
c.7837T>C; p.L2613L; |
lung | carcinoma; adenocarcinoma |
c.2841G>A; p.Q947Q; |
lung | carcinoma; adenocarcinoma |
c.6085A>G; p.T2029A; |
lung | carcinoma; adenocarcinoma |
c.3616G>T; p.V1206L; |
lung | carcinoma; adenocarcinoma |
c.234G>C; p.L78L; |
lung | carcinoma; adenocarcinoma |
c.1972G>T; p.A658S; |
lung | carcinoma; adenocarcinoma |
c.5625C>T; p.V1875V; |
lung | carcinoma; adenocarcinoma |
c.11188G>A; p.V3730M; |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; classic |
c.4019G>T; p.R1340L; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.2102C>A; p.T701N; |
skin; extremity | malignant_melanoma |
c.8087T>G; p.L2696R; |
skin; trunk | malignant_melanoma |
c.7273G>A; p.G2425S; |
skin; extremity | malignant_melanoma |
c.2813C>T; p.T938M; |
skin; trunk | malignant_melanoma |
c.2813C>T; p.T938M; |
skin; extremity | malignant_melanoma |
c.8087T>G; p.L2696R; |
skin; extremity | malignant_melanoma |
c.5986G>A; p.V1996M; |
prostate | carcinoma |
c.12093G>T; p.L4031F; |
lung | carcinoma; small_cell_carcinoma |
c.4858G>A; p.A1620T; |
lung | carcinoma; small_cell_carcinoma |
c.8681_8689delCCAACTCCG; p.A2894_S2896delA |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.2087C>T; p.A696V; |
autonomic_ganglia | neuroblastoma |
c.7820A>T; p.H2607L; |
autonomic_ganglia | neuroblastoma |
c.5786_5787AG>TT; p.E1929V; |
lung | carcinoma; adenocarcinoma |
c.2718G>T; p.E906D; |
lung | carcinoma; adenocarcinoma |
c.4395C>T; p.P1465P; |
lung | carcinoma; adenocarcinoma |
c.8937C>T; p.F2979F; |
lung | carcinoma; squamous_cell_carcinoma |
c.8575G>T; p.A2859S; |
lung | carcinoma; squamous_cell_carcinoma |
c.11211G>A; p.G3737G; |
lung | carcinoma; squamous_cell_carcinoma |
c.925G>A; p.D309N; |
lung | carcinoma; squamous_cell_carcinoma |
c.6196C>G; p.L2066V; |
ovary | carcinoma; serous_carcinoma |
c.8570C>A; p.A2857D; |
lung | carcinoma; squamous_cell_carcinoma |
c.6799G>T; p.V2267L; |
lung | carcinoma; adenocarcinoma |
c.5487G>A; p.L1829L; |
lung | carcinoma; squamous_cell_carcinoma |
c.3747C>T; p.D1249D; |
lung | carcinoma; squamous_cell_carcinoma |
c.4513G>T; p.G1505C; |
lung; left_upper_lobe | carcinoma; adenocarcinoma |
c.3320C>T; p.A1107V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.6658C>T; p.R2220W; |
lung | carcinoma; squamous_cell_carcinoma |
c.10218G>C; p.K3406N; |
lung | carcinoma; adenocarcinoma |
c.4574T>G; p.V1525G; |
lung | carcinoma; adenocarcinoma |
c.6545A>G; p.Q2182R; |
lung | carcinoma; squamous_cell_carcinoma |
c.4845C>T; p.N1615N; |
lung | carcinoma; adenocarcinoma |
c.8325G>C; p.T2775T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.11321G>T; p.G3774V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.9677A>C; p.N3226T; |
lung | carcinoma; squamous_cell_carcinoma |
c.8865C>G; p.H2955Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.1353C>T; p.A451A; |
lung | carcinoma; squamous_cell_carcinoma |
c.11454C>T; p.G3818G; |
lung | carcinoma; squamous_cell_carcinoma |
c.4603C>T; p.R1535C; |
lung | carcinoma; squamous_cell_carcinoma |
c.7588G>T; p.G2530C; |
lung | carcinoma; squamous_cell_carcinoma |
c.8408G>T; p.G2803V; |
lung | carcinoma; squamous_cell_carcinoma |
c.5484_5485GC>TT; p.Q1828H; |
lung | carcinoma; adenocarcinoma |
c.2611G>T; p.E871*; |
lung | carcinoma; adenocarcinoma |
c.6716C>T; p.T2239M; |
lung | carcinoma; adenocarcinoma |
c.10065G>T; p.P3355P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.6145G>A; p.E2049K; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.4029G>T; p.P1343P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.8040C>G; p.C2680W; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.10348G>T; p.E3450*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.7872G>T; p.R2624R; |
lung | carcinoma; adenocarcinoma |
c.2825A>T; p.E942V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4817C>T; p.T1606I; |
lung | carcinoma; adenocarcinoma |
c.7263C>T; p.T2421T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3298G>A; p.E1100K; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2775G>T; p.R925R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.8194C>T; p.R2732W; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.7710G>T; p.L2570F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.8550G>A; p.S2850S; |
breast | carcinoma |
c.5722C>T; p.Q1908*; |
breast | carcinoma |
c.844G>C; p.G282R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1714C>T; p.P572S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4014C>T; p.T1338T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.928G>A; p.G310S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3370G>A; p.A1124T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12409C>T; p.L4137L; |
breast | carcinoma |
c.6535G>A; p.V2179I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12409C>T; p.L4137L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.2813C>T; p.T938M; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.8391C>T; p.G2797G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8385C>T; p.C2795C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3408C>T; p.G1136G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.10326G>A; p.A3442A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9898G>A; p.G3300R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6769G>T; p.V2257L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6768G>T; p.L2256L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.9330T>C; p.P3110P; |
breast | carcinoma |
c.10531C>G; p.L3511V; |
breast | carcinoma |
c.11245C>A; p.L3749M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9714C>T; p.S3238S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9510C>T; p.I3170I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6870C>T; p.D2290D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6554A>G; p.Y2185C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4547C>T; p.A1516V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2722G>A; p.V908M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12448C>T; p.R4150C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11200T>C; p.Y3734H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4609G>A; p.E1537K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7522C>T; p.L2508L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4842G>C; p.E1614D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9022G>A; p.V3008M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4642G>A; p.V1548M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4665A>C; p.A1555A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3382T>A; p.S1128T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6704C>A; p.S2235*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12325C>T; p.R4109C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4546G>A; p.A1516T; |
breast | carcinoma |
c.11376G>C; p.S3792S; |
breast | carcinoma |
c.3502C>T; p.P1168S; |
breast | carcinoma |
c.3111A>G; p.L1037L; |
breast | carcinoma |
c.2081C>T; p.P694L; |
breast | carcinoma |
c.12253C>A; p.L4085M; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1964C>T; p.P655L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8087T>G; p.L2696R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12657C>T; p.F4219F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5727C>T; p.I1909I; |
urinary_tract; bladder | carcinoma |
c.9994G>T; p.V3332F; |
urinary_tract; bladder | carcinoma |
c.7804C>T; p.Q2602*; |
urinary_tract; bladder | carcinoma |
c.12025G>A; p.V4009M; |
prostate | carcinoma; adenocarcinoma |
c.10239C>T; p.S3413S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4895T>C; p.I1632T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1643C>T; p.A548V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6594G>A; p.P2198P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4126G>A; p.V1376M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.12222G>A; p.L4074L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6330C>T; p.A2110A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8032C>T; p.L2678F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.922G>A; p.G308R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3323C>G; p.S1108C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4610A>G; p.E1537G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9036G>A; p.T3012T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10747G>A; p.G3583S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5648C>T; p.A1883V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4062G>A; p.T1354T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12325C>T; p.R4109C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10775G>T; p.S3592I; |
breast | carcinoma |
c.2671G>A; p.D891N; |
cervix | carcinoma; squamous_cell_carcinoma |
c.12429C>G; p.L4143L; |
breast | carcinoma |
c.7820A>T; p.H2607L; |
prostate | carcinoma; adenocarcinoma |
c.3013G>A; p.V1005I; |
prostate | carcinoma; adenocarcinoma |
c.4836G>A; p.T1612T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11252A>T; p.Q3751L; |
urinary_tract; bladder | carcinoma |
c.10749C>T; p.G3583G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6523C>A; p.L2175M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6181G>A; p.V2061I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.12039C>T; p.S4013S; |
prostate | carcinoma |
c.4267C>T; p.P1423S; |
skin | malignant_melanoma |
c.5606C>T; p.S1869F; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.8687C>T; p.S2896F; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.9438C>A; p.D3146E; |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.4402G>A; p.V1468I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.11370T>C; p.N3790N; |
stomach | adenocarcinoma |