| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 8506 |
Name | CNTNAP1 |
Synonymous | CASPR|CNTNAP|NRXN4|P190;contactin associated protein 1;CNTNAP1;contactin associated protein 1 |
Definition | caspr1|contactin-associated protein 1|neurexin 4|neurexin IV|neurexin-4 |
Position | 17q21 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CNTNAP1 | ||
PCGP somatic mutation [Top] | ||
There is no record for CNTNAP1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1139G>A; p.R380H; |
breast | carcinoma; ER-PR-positive_carcinoma |
c.1192C>G; p.L398V; |
breast | carcinoma; HER-positive_carcinoma |
c.3902T>A; p.L1301*; |
lung | carcinoma; squamous_cell_carcinoma |
c.1008C>T; p.D336D; |
ovary | other; neoplasm |
c.1204C>T; p.R402C; |
lung | carcinoma; small_cell_carcinoma |
c.3737C>T; p.S1246F; |
NS | malignant_melanoma |
c.3737C>T; p.S1246F; |
NS | malignant_melanoma |
c.2617G>A; p.D873N; |
lung | carcinoma; squamous_cell_carcinoma |
c.2597A>C; p.D866A; |
lung | carcinoma; small_cell_carcinoma |
c.1923G>A; p.M641I; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.170-2A>G; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1144C>A; p.R382S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.385G>A; p.E129K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.52G>A; p.E18K; |
breast | carcinoma; HER-positive_carcinoma |
c.1565T>C; p.V522A; |
eye; uveal_tract | malignant_melanoma; spindle |
c.3276C>T; p.S1092S; |
oesophagus | carcinoma; adenocarcinoma |
c.675C>T; p.L225L; |
oesophagus | carcinoma; adenocarcinoma |
c.2503C>T; p.R835*; |
oesophagus | carcinoma; adenocarcinoma |
c.1810G>T; p.G604C; |
oesophagus | carcinoma; adenocarcinoma |
c.3781C>T; p.P1261S; |
oesophagus | carcinoma; adenocarcinoma |
c.2992G>A; p.D998N; |
oesophagus | carcinoma; adenocarcinoma |
c.640C>A; p.H214N; |
oesophagus | carcinoma; adenocarcinoma |
c.91G>T; p.G31C; |
large_intestine; colon | carcinoma |
c.3965C>A; p.A1322D; |
lung | carcinoma; adenocarcinoma |
c.932G>A; p.R311Q; |
lung | carcinoma; adenocarcinoma |
c.1939G>T; p.G647W; |
lung | carcinoma; adenocarcinoma |
c.589G>C; p.D197H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.589G>C; p.D197H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.589G>C; p.D197H; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.2855G>A; p.G952D; |
skin; trunk | malignant_melanoma |
c.1731C>T; p.H577H; |
autonomic_ganglia | neuroblastoma |
c.651C>T; p.G217G; |
pancreas | carcinoma; ductal_carcinoma |
c.128A>C; p.Y43S; |
pancreas | carcinoma; ductal_carcinoma |
c.3435C>G; p.S1145R; |
pancreas | carcinoma; ductal_carcinoma |
c.770T>C; p.V257A; |
pancreas | carcinoma; ductal_carcinoma |
c.3611C>G; p.P1204R; |
NS | NS |
c.1441T>C; p.S481P; |
prostate | carcinoma |
c.1869G>A; p.W623*; 17:38096296-38096296 |
ovary | carcinoma; serous_carcinoma |
c.1752C>A; p.S584S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1921_1951del31; p.M641fs*96; 17:38096348-38096378 |
ovary | carcinoma; serous_carcinoma |
c.1508T>C; p.F503S; |
ovary | carcinoma; serous_carcinoma |
c.2123C>G; p.S708C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2985C>A; p.C995*; |
lung | carcinoma; squamous_cell_carcinoma |
c.2422G>A; p.D808N; |
lung | carcinoma; squamous_cell_carcinoma |
c.535G>A; p.G179S; |
lung | carcinoma; squamous_cell_carcinoma |
c.100T>C; p.Y34H; |
lung | carcinoma; adenocarcinoma |
c.1195C>G; p.L399V; |
ovary | carcinoma; serous_carcinoma |
c.439C>A; p.R147S; |
lung | carcinoma; squamous_cell_carcinoma |
c.962G>A; p.R321H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2421G>T; p.L807L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1425G>C; p.L475L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2624G>A; p.W875*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.531C>T; p.F177F; |
breast | carcinoma |
c.359A>G; p.N120S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.106C>T; p.R36C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3015G>A; p.P1005P; |
breast | carcinoma |
c.1522G>A; p.E508K; |
breast | carcinoma |
c.1537G>A; p.D513N; |
breast | carcinoma |
c.2773C>T; p.R925C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.993C>T; p.R331R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.151A>C; p.R51R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2483G>A; p.G828D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.430C>T; p.R144C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2341G>A; p.D781N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.339G>A; p.P113P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2939A>G; p.Y980C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1113C>T; p.F371F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2600A>G; p.D867G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3965C>T; p.A1322V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.683_684insG; p.A230fs*31; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1312C>T; p.R438*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2285C>T; p.T762M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3677G>A; p.R1226Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3028C>T; p.R1010C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2334C>T; p.C778C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1006G>T; p.D336Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2388A>G; p.L796L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.973G>T; p.E325*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3388G>A; p.V1130M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1615G>A; p.G539S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3284C>A; p.A1095D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1022G>A; p.R341H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3028C>T; p.R1010C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.428C>T; p.A143V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3422G>C; p.G1141A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1283G>A; p.R428Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1722G>T; p.E574D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2964G>A; p.T988T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.646G>A; p.E216K; |
cervix | carcinoma; squamous_cell_carcinoma |
c.660C>T; p.G220G; |
urinary_tract; bladder | carcinoma |
c.876C>T; p.F292F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1429C>T; p.R477W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2340C>T; p.G780G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2856T>C; p.G952G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1228G>A; p.V410M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2922C>T; p.C974C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.666C>T; p.Y222Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1095C>T; p.F365F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.592G>A; p.V198M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1479A>T; p.R493R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3252_3253CT>GG; p.S1085A; |
breast | carcinoma |
c.151A>C; p.R51R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2856T>A; p.G952G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3569-1G>C; p.?; |
breast | carcinoma |
c.146C>T; p.A49V; |
breast | carcinoma |
c.645C>A; p.A215A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1061G>A; p.R354H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.378C>A; p.N126K; |
kidney | carcinoma; renal_cell_carcinoma |
c.1828C>G; p.P610A; |
skin | malignant_melanoma |
c.2575G>A; p.E859K; |
skin; scalp | malignant_melanoma |
c.3988A>G; p.S1330G; |
skin | malignant_melanoma |
c.191_192GG>AA; p.R64Q; |
skin | malignant_melanoma |
c.2734G>T; p.D912Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.93T>C; p.G31G; |
stomach | adenocarcinoma |
c.512A>G; p.K171R; |
stomach | adenocarcinoma |
c.2163G>C; p.R721R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |