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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 4763 |
Name | NF1 |
Synonymous | NFNS|VRNF|WSS;neurofibromin 1;NF1;neurofibromin 1 |
Definition | neurofibromatosis-related protein NF-1|neurofibromin |
Position | 17q11.2 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.4938C>T; 17:26677066-26677066 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Substitution - coding silent; c.387G>A; 17:26514428-26514428 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Substitution - coding silent; c.6006G>A; |
n; ovary | neoplasm; other |
Substitution - coding silent; c.2178G>C; 17:26577755-26577755 |
haematopoietic_and_lymphoid_ti | chronic_myelomonocytic_leukaemia; haematopoietic_neoplasm |
Substitution - coding silent; c.8325C>T; 17:26711795-26711795 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Substitution - coding silent; c.4638G>C; |
n; ovary | neoplasm; other |
Substitution - coding silent; c.6927G>A; |
y; upper_aerodigestive_tract; pharynx; hypopharynx | squamous_cell_carcinoma; carcinoma |
Indel | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Deletion - Frameshift; c.246_247delTC; 17:26510195-26510196 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.2843delA; 17:26580602-26580602 |
soft_tissue; nerve_sheath; abdomen | neurofibroma |
Deletion - Frameshift; c.1897delG; 17:26576290-26576290 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - Frameshift; c.2027delC; 17:26577604-26577604 |
haematopoietic_and_lymphoid_ti | juvenile_myelomonocytic_leukaemia; haematopoietic_neoplasm |
Deletion - Frameshift; c.495_498delTGTT; 17:26521050-26521053 |
haematopoietic_and_lymphoid_ti | juvenile_myelomonocytic_leukaemia; haematopoietic_neoplasm |
Deletion - Frameshift; c.6577_6578delGA; 17:26688661-26688662 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - Frameshift; c.6922_6922delG; 17:26691649-26691649 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - In frame; c.6427_6540del114; |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.1888delG; 17:26576281-26576281 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - In frame; c.2341_2358del18; 17:26578682-26578699 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.1541_1542delAG; 17:26570162-26570163 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour |
Deletion - Frameshift; c.7300_7316del17; 17:26700374-26700390 |
soft_tissue; nerve_sheath; knee | neurofibroma |
Deletion - Frameshift; c.543_546delGTAT; 17:26521098-26521101 |
soft_tissue; nerve_sheath; scalp | neurofibroma |
Deletion - Frameshift; c.2395delA; 17:26578736-26578736 |
lung | large_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.4643_4653del11; 17:26612920-26612930 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour |
Deletion - In frame; c.1528_1641del114; 17:26570149-26570262 |
soft_tissue; nerve_sheath; arm | plexiform; neurofibroma |
Deletion - Frameshift; c.2677_2689del13; 17:26580436-26580448 |
soft_tissue; nerve_sheath; upper_leg | malignant_peripheral_nerve_sheath_tumour |
Deletion - Frameshift; c.403delC; 17:26514444-26514444 |
soft_tissue; blood_vessel; finger | glomus_tumour |
Deletion - Frameshift; c.4750_4754delTTCAA; 17:26616398-26616402 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.7987_7987delT; 17:26709640-26709640 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.6148_6148delG; 17:26687779-26687779 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.889_889delA; 17:26551566-26551566 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.3818_3819delCT; |
y; central_nervous_system; brain | anaplastic; oligodendroglioma_Grade_III; glioma |
Deletion - Frameshift; c.2033delC; 17:26577610-26577610 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.6355_6385del31; 17:26687986-26688016 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.1663_1666delTTAG; 17:26573015-26573018 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.8253_8268del16; 17:26711723-26711738 |
breast | medullary; ductal_carcinoma; carcinoma |
Deletion - Frameshift; c.6280delC; 17:26687911-26687911 |
soft_tissue; nerve_sheath; back | malignant_peripheral_nerve_sheath_tumour |
Deletion - Frameshift; c.7191_7191delG; 17:26700265-26700265 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.4792delA; 17:26616440-26616440 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.3047_3048delGT; 17:26581460-26581461 |
soft_tissue; nerve_sheath; upper_leg | neurofibroma |
Deletion - Frameshift; c.5851delC; 17:26686020-26686020 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour |
Deletion - Frameshift; c.7663_7684del22; 17:26707651-26707672 |
soft_tissue; blood_vessel; finger | glomus_tumour |
Deletion - Frameshift; c.6852_6855delTTAC; 17:26689880-26689883 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - Frameshift; c.8057_8058delAG; 17:26709710-26709711 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - Frameshift; c.3745_3764del20; 17:26586791-26586810 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.4489_4493delTCCTT; 17:26611571-26611575 |
autonomic_ganglia | neuroblastoma |
Deletion - Frameshift; c.3375_3376delGC; 17:26583904-26583905 |
n; lung | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.?_?delGA; |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.2928_2940del13; 17:26581056-26581068 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.4818delT; 17:26616466-26616466 |
soft_tissue; striated_muscle | rhabdomyosarcoma |
Deletion - Frameshift; c.2815delA; 17:26580574-26580574 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.5837delT; 17:26686006-26686006 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.5089_5095delCTGACTG; 17:26677217-26677223 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.4086_4092delAAGTGTG; 17:26600239-26600245 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.1153delC; 17:26552271-26552271 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.603_621del19; 17:26532582-26532600 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.748delT; 17:26533669-26533669 |
soft_tissue; nerve_sheath; chest | neurofibroma |
Deletion - Frameshift; c.7783_7784delAA; 17:26708148-26708149 |
soft_tissue; nerve_sheath; chest | neurofibroma |
Deletion - Frameshift; c.1882delT; 17:26576275-26576275 |
large_intestine; colon | carcinoma |
Deletion - Frameshift; c.7022delA; 17:26691749-26691749 |
large_intestine; colon | carcinoma |
Deletion - Frameshift; c.1178_1179delAC; 17:26552296-26552297 |
soft_tissue; nerve_sheath | plexiform; neurofibroma |
Deletion - Frameshift; c.3727_3728delCT; 17:26586773-26586774 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.731_732delAA; 17:26533652-26533653 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.5845_5863del19; 17:26686014-26686032 |
y; ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.6852_6855delTTAC; 17:26689880-26689883 |
haematopoietic_and_lymphoid_ti | acute_lymphoblastic_B_cell_leukaemia; lymphoid_neoplasm |
Deletion - Frameshift; c.4437_4438delCC; 17:26611519-26611520 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.2088delG; 17:26577665-26577665 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.2033delC; 17:26577610-26577610 |
large_intestine; colon | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.3757_3764delCTCTACCA; 17:26586803-26586810 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.4806delG; 17:26616454-26616454 |
soft_tissue; nerve_sheath; shoulder | neurofibroma |
Deletion - Frameshift; c.2820delC; 17:26580579-26580579 |
central_nervous_system; brain | astrocytoma; glioma |
Deletion - Frameshift; c.1541_1542delAG; 17:26570162-26570163 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour |
Deletion - Frameshift; c.4977_4980delCTCT; 17:26677105-26677108 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - Frameshift; c.5734_5737delAGTA; 17:26681564-26681567 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - Frameshift; c.5440_5458del19; 17:26678814-26678832 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - Frameshift; c.480_480delG; 17:26521035-26521035 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.4818delT; 17:26616466-26616466 |
large_intestine; colon | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.7903delG; 17:26708446-26708446 |
central_nervous_system; brain | glioma |
Deletion - Frameshift; c.1594delC; 17:26570215-26570215 |
soft_tissue; nerve_sheath | malignant_peripheral_nerve_sheath_tumour |
Deletion - Frameshift; c.4564_4565delCT; 17:26611646-26611647 |
soft_tissue; nerve_sheath; back | plexiform; neurofibroma |
Deletion - Frameshift; c.7012delC; 17:26691739-26691739 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - Frameshift; c.6009delT; 17:26687479-26687479 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - Frameshift; c.6852_6855delTTAC; 17:26689880-26689883 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - Frameshift; c.1724_1727delCACA; 17:26574590-26574593 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.252_270del19; 17:26510201-26510219 |
y; ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.5831_5834delTTTG; 17:26686000-26686003 |
soft_tissue; nerve_sheath; flank | neurofibroma |
Deletion - Frameshift; c.396_403delTGAACTTC; 17:26514437-26514444 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.3330delT; 17:26583859-26583859 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.7501delG; 17:26703444-26703444 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - Frameshift; c.359_375del17; 17:26514400-26514416 |
soft_tissue; nerve_sheath | neurofibroma |
Deletion - In frame; c.532_558del27; 17:26521087-26521113 |
soft_tissue; nerve_sheath; nose | plexiform; neurofibroma |
Deletion - Frameshift; c.4977_4980delCTCT; 17:26677105-26677108 |
large_intestine; colon; right | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.6906delG; 17:26689934-26689934 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - Frameshift; c.6852_6855delTTAC; 17:26689880-26689883 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - Frameshift; c.5330_5333delTCTT; |
y; ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.3933_3934delCT; |
y; breast | lobular_carcinoma; carcinoma |
Other Mutation | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Whole gene deletion; c.1_8520del8520; 17:26446455-26725300 |
soft_tissue; nerve_sheath; neck | plexiform; neurofibroma |
Whole gene deletion; c.1_8520del8520; 17:26446455-26725300 |
soft_tissue; nerve_sheath; buttock | plexiform; neurofibroma |
Complex - frameshift; c.5608_5609CG>AGAGTTTACG; 17:26678982-26678983 |
soft_tissue; blood_vessel; finger | glomus_tumour |
Whole gene deletion; c.1_8520del8520; 17:26446455-26725299 |
central_nervous_system; brain | anaplastic; astrocytoma_Grade_III; glioma |
Whole gene deletion; c.1_8520del8520; 17:26446455-26725300 |
soft_tissue; nerve_sheath; chest | plexiform; neurofibroma |
Complex - deletion inframe; c.2534_2557del24; 17:26580293-26580316 |
soft_tissue; nerve_sheath; arm | neurofibroma |
Whole gene deletion; c.1_8520del8520; 17:26446455-26725300 |
soft_tissue; nerve_sheath; back | plexiform; neurofibroma |
Complex - frameshift; c.1831_1831C>TT; 17:26574697-26574697 |
soft_tissue; nerve_sheath; trunk | malignant_peripheral_nerve_sheath_tumour |