AutismKB 2.0

Annotation Detail for NSF


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Basic Information Top
Gene Symbol:NSF ( SKD2 )
Gene Full Name: N-ethylmaleimide-sensitive factor
Band: 17q21.31
Quick LinksEntrez ID:4905; OMIM: 601633; Uniprot ID:NSF_HUMAN; ENSEMBL ID: ENSG00000073969; HGNC ID: 8016
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04962Vasopressin-regulated water reabsorption
Pathway IDPathway Name
Synaptic Transmission
No data
Pathway IDPathway Name
P00037Ionotropic glutamate receptor pathway
P05734Synaptic vesicle trafficking
Pathway IDPathway Name
500172Trafficking of GluR2-containing AMPA receptors
Related Diseases/Disorders Top
No data
No data
Desease Name
Parkinson's disease
NEUROLOGICAL
Desease Name
Parkinson's disease
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D020106 Acrylamide Acrylamide binds to and affects the metabolism of NSF proteinaffects binding|affects metabolic processing 17698512
D000643 Ammonium Chloride Ammonium Chloride affects the expression of NSF mRNAaffects expression 16483693
D016572 Cyclosporine Cyclosporine results in decreased expression of NSF mRNAdecreases expression 20106945
C472511 dimethylarsinous acid dimethylarsinous acid results in decreased expression of NSF mRNAdecreases expression 16507463
D005419 Flavonoids Flavonoids results in increased expression of NSF mRNAincreases expression 18035473
D006220 Haloperidol Haloperidol results in decreased expression of NSF mRNAdecreases expression 15860345
C051890 irinotecan irinotecan analog results in decreased expression of NSF mRNAdecreases expression 18927307
C010327 salinomycin salinomycin results in decreased expression of NSF mRNAdecreases expression 19682730
D024505 Tocopherols Tocopherols results in increased expression of NSF mRNAincreases expression 17654050
C025643 vinclozolin vinclozolin affects the expression of NSF mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D001008 Anxiety Disorders vinclozolin 3.7819015723
MESH:D001321 Autistic Disorder Haloperidol 2.7318080171 19368416
MESH:D001943 Breast Neoplasms Acrylamide 3.0616253758 18183576
MESH:D001943 Breast Neoplasms salinomycin 3.0619682730
MESH:D002375 Catalepsy Haloperidol 5.1515215559 1977408
MESH:D002418 Cattle Diseases Acrylamide 5.7212510666
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.6412371664
MESH:D002779 Cholestasis Cyclosporine 3.0419486331
MESH:D003110 Colonic Neoplasms irinotecan 2.6217725105 17287894
MESH:D015179 Colorectal Neoplasms irinotecan 2.3616391804 17454858 17159606 16303861 18259882 18509181 15273666
MESH:D003456 Cryptorchidism vinclozolin 4.5414966744
MESH:D016757 Death, Sudden, Cardiac Haloperidol 5.0320210726
MESH:D003704 Dementia Haloperidol 4.7511575062
MESH:D005234 Fatty Liver Cyclosporine 3.0319224547
MESH:D005355 Fibrosis Cyclosporine 3.3612639820 12168785
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1716973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5716417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.468708960
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6615720958
MESH:D006973 Hypertension Cyclosporine 2.1510903974
MESH:D007247 Infertility, Female Acrylamide 5.3911020651
MESH:D007248 Infertility, Male Acrylamide 7.6711020651 12507653 15355880 15749267
MESH:D007248 Infertility, Male vinclozolin 7.6716467254
MESH:D007249 Inflammation Flavonoids 2.7217296493
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7115604871
MESH:D007674 Kidney Diseases Cyclosporine 2.4318776723 8314463 10903974
MESH:D007680 Kidney Neoplasms Cyclosporine 2.8812371664
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9716417039
MESH:D008325 Mammary Neoplasms, Experimental salinomycin 7.3019682730
MESH:D008325 Mammary Neoplasms, Experimental Tocopherols 7.3017927505
MESH:D001523 Mental Disorders Haloperidol 4.2516856516
MESH:D008654 Mesothelioma Tocopherols 4.1615878867
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0516801185
MESH:D052016 Mucositis irinotecan 5.2517159606
MESH:D009362 Neoplasm Metastasis irinotecan 3.2318259882
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4418481113 19348381
MESH:D009410 Nerve Degeneration Acrylamide 4.8212387367 12387366 11264303
MESH:D009422 Nervous System Diseases Acrylamide 5.1412164553 12507653
MESH:D009447 Neuroblastoma irinotecan 3.568761367
MESH:D017599 Neuroectodermal Tumors irinotecan 4.978761367
MESH:D010523 Peripheral Nervous System Diseases Acrylamide 5.3111510240
MESH:D011230 Precancerous Conditions Cyclosporine 3.3712371664
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.1318220299 19015723 18042343
MESH:D011469 Prostatic Diseases vinclozolin 5.1718220299
MESH:D011471 Prostatic Neoplasms Tocopherols 4.5712504091
MESH:D011472 Prostatitis vinclozolin 5.1718629315
MESH:D011565 Psoriasis Cyclosporine 2.2816882103
MESH:D011595 Psychomotor Agitation Haloperidol 5.1711575062
MESH:D011618 Psychotic Disorders Haloperidol 4.3711575062
MESH:D012559 Schizophrenia Haloperidol 2.8219369910 1830565 20107430 18513383
MESH:D013274 Stomach Neoplasms irinotecan 2.3615723263
MESH:D017180 Tachycardia, Ventricular Haloperidol 4.9020210726
MESH:D013733 Testicular Diseases Acrylamide 5.4715864552
MESH:D014605 Uveitis Cyclosporine 4.251336536
MESH:D014985 Xerophthalmia Cyclosporine 4.7117120751
Pathway ID Pathway Name
REACT:13685 Synaptic Transmission
KEGG:04962 Vasopressin-regulated water reabsorption
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB01902 - 1-Ethyl-Pyrrolidine-2,5-Dione
DB03131 - Beta-Mercaptoethanol
No data
No data
No data

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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