AutismKB 2.0

Annotation Detail for NSFL1C


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Basic Information Top
Gene Symbol:NSFL1C ( MGC3347,UBX1,UBXD10,UBXN2C,dJ776F14.1,p47 )
Gene Full Name: NSFL1 (p97) cofactor (p47)
Band: 20p13
Quick LinksEntrez ID:55968; OMIM: 606610; Uniprot ID:NSF1C_HUMAN; ENSEMBL ID: ENSG00000088833; HGNC ID: 15912
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04141Protein processing in endoplasmic reticulum
No data
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of NSFL1C mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of NSFL1C mRNAaffects expression 21346803
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of NSFL1C mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of NSFL1C mRNAaffects expression 17562736
D000082 Acetaminophen Acetaminophen results in increased expression of NSFL1C proteinincreases expression 16538041
D000643 Ammonium Chloride Ammonium Chloride affects the expression of NSFL1C mRNAaffects expression 16483693
D019324 beta-Naphthoflavone [Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of NSFL1C mRNAaffects cotreatment|increases expression 18164116
C018021 cobaltous chloride cobaltous chloride results in decreased expression of NSFL1C proteindecreases expression 16622835
D016572 Cyclosporine Cyclosporine results in increased expression of NSFL1C mRNAincreases expression 20106945
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of NSFL1C mRNAaffects cotreatment|increases expression 18164116
D000431 Ethanol Ethanol results in decreased expression of NSFL1C mRNAdecreases expression 17920746
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of NSFL1C mRNAaffects cotreatment|increases expression 17183730
D008701 Methapyrilene Methapyrilene results in increased expression of NSFL1C mRNAincreases expression 16393664
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of NSFL1C mRNAaffects cotreatment|increases expression 17183730
D014810 Vitamin E Vitamin E results in increased expression of NSFL1C mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 14.917525203
MESH:D000014 Abnormalities, Drug-Induced Ethanol 14.9117676605 18926900
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 14.918875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 3.9819490988
MESH:D000138 Acidosis Ammonium Chloride 10.7518287403
MESH:D000138 Acidosis Ethanol 10.7511192467
MESH:D000236 Adenoma beta-Naphthoflavone 6.9819389873
MESH:D000236 Adenoma Diethylnitrosamine 6.986695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 3.9818056438 19061943 16434500 19052882 17162532 17620307
MESH:D020268 Alcohol-Induced Disorders, Nervous System Ethanol 5.4215451039 15451040
MESH:D000550 Amblyopia Valproic Acid 5.3317688650
MESH:D000799 Angioedema Acetaminophen 3.9410982225
MESH:D000853 Anophthalmos Ethanol 4.8915513904
MESH:D001008 Anxiety Disorders Ethanol 9.1311141031
MESH:D001008 Anxiety Disorders Valproic Acid 9.1317497229
MESH:D001321 Autistic Disorder Acetaminophen 1.8518445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8517507914 19232924 18985861 18396377 18316065 17157402 18558336 18940202 20603192 19460635 15238991 17688650 18775368 18177632 16609825
MESH:D001714 Bipolar Disorder Valproic Acid 3.1020046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.438888407
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.2317474063
MESH:D002056 Burns Ethanol 4.7216374292
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.0016050911
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 8.9616705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 8.9616705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 8.963084413
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 8.9618978308 21159647 19208518 17055752 18056438 3084413 16935385 20727157 20084675 16569478 19383236 19822196 18691550 18210153 16681979 18393292 17428255 19539802 18494052 17138121 20432363 3581430 19519916 18788625 17162532 19335982 19107877 20514400 20101231 16878318 20524982 19171122 20007298 16779866 16807293 10672840 19418558 19052882 16540662 16288022 16328049 17978847 16502159 18506893 20512989 17173139 16698587 17761372 11831363 19701751 18785209 19919837 18665156 20935162 16830150 10737359 18971187 20214788 19394651
MESH:D006528 Carcinoma, Hepatocellular Ethanol 8.9615289165 15763234 18788625
MESH:D006332 Cardiomegaly Ethanol 3.4619332462
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 7.5214694615
MESH:D002386 Cataract Acetaminophen 7.5210977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 11.376135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.3712371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 11.377505956 2727394 17174075 21159647
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7220734317
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.7319052882
MESH:D002779 Cholestasis Cyclosporine 2.9519486331
MESH:D002971 Cleft Lip Ethanol 3.6115513904
MESH:D002972 Cleft Palate Ethanol 3.1915513904
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 4.2115095906
MESH:D019465 Craniofacial Abnormalities Ethanol 3.9511873399 19302082 10194807 15451039 11198716 15451040 15513904
MESH:D019465 Craniofacial Abnormalities Valproic Acid 3.9516575769 8888407 17688650
MESH:D019465 Craniofacial Abnormalities Vitamin E 3.9519769572
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.1418551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.1418551238
MESH:D017449 Dermatitis, Allergic Contact cobaltous chloride 4.1011298694 16823706 15059100
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2020387270
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 18.9521346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 18.9521346803 18551238
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 18.9521346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 18.9516177239 12958197 19164858 12705907 15619225 11287661 16081117 17906064 2444490 10915739 12594235 16781746 19085960 14725611 16485898 17522070 16109766 19416960 16227642 12153990 16393943 18071297 11834606 11461765 14986274 11421492 17562736 19739265 12540782 10663392 19370779 15968718 19923254 11529661 18713872 10774834 11743745 11739529 12392966 14550746 19420014
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 18.9519107877
MESH:D056486 Drug-Induced Liver Injury Ethanol 18.9511566570
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 18.951733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1919426721
MESH:D004421 Dystonia Valproic Acid 4.111851702
MESH:C538011 Eales disease Vitamin E 4.809068938
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.233659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.0116628512 3922381
MESH:D004827 Epilepsy Valproic Acid 2.9620417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.636426943 6254150 7562514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.377750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.153659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.2116302075
MESH:D004938 Esophageal Neoplasms Ethanol 2.7716704527
MESH:D005234 Fatty Liver Cyclosporine 19.2819224547
MESH:D005234 Fatty Liver Diethylnitrosamine 19.2820387270 21071580
MESH:D005234 Fatty Liver Ethanol 19.2818620774 16409862 19236843
MESH:D005234 Fatty Liver Valproic Acid 19.2819224547 14986274
MESH:D005235 Fatty Liver, Alcoholic Ethanol 5.7617920746
MESH:D005310 Fetal Alcohol Syndrome Ethanol 5.3816946407 15451040 15513904 10194807
MESH:D005315 Fetal Diseases Valproic Acid 4.9816575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.198888407 18558336
MESH:D005355 Fibrosis Cyclosporine 3.2112168785 12639820
MESH:D005756 Gastritis Acetaminophen 11.4616983495
MESH:D005756 Gastritis Ethanol 11.4615046732
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.308708960
MESH:D006330 Heart Defects, Congenital Vitamin E 3.0116080930
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5015720958
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7216863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.0714716179
MESH:D006849 Hydrocephalus Valproic Acid 4.9517688650
MESH:D006930 Hyperalgesia Acetaminophen 7.9516870215
MESH:D006930 Hyperalgesia Ethanol 7.9518783367
MESH:D006973 Hypertension Cyclosporine 2.1210903974
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.7016612254
MESH:D007249 Inflammation Diethylnitrosamine 2.4018785209
MESH:D007251 Influenza, Human Vitamin E 4.3116624496
MESH:D007569 Jaw Abnormalities Ethanol 4.4615513904
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5415604871
MESH:D007674 Kidney Diseases Acetaminophen 10.1812587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 10.188314463 10903974 18776723
MESH:D007674 Kidney Diseases Vitamin E 10.1812488133
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 12.6316705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 12.6316705839
MESH:D007680 Kidney Neoplasms Cyclosporine 12.6312371664
MESH:D007859 Learning Disorders Ethanol 4.2815451040
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1616294345 17596541
MESH:D017880 Limb Deformities, Congenital Ethanol 3.8517676605
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 6.9118665156 18407596 20032147 19638242 18522880
MESH:D008103 Liver Cirrhosis Ethanol 6.9115289165
MESH:D008104 Liver Cirrhosis, Alcoholic Ethanol 5.1818295389
MESH:D008106 Liver Cirrhosis, Experimental Ethanol 2.7518166357
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.7516169303
MESH:D008107 Liver Diseases Acetaminophen 3.9519460945 12587719 19784758 16610002 19014921 11587558 12969438 16611625
MESH:D008107 Liver Diseases Diethylnitrosamine 3.9517034775
MESH:D008108 Liver Diseases, Alcoholic Ethanol 4.7217347304 17207112
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2917185352 16871587
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 10.957678174
MESH:D008113 Liver Neoplasms beta-Naphthoflavone 10.9521295105 19389873
MESH:D008113 Liver Neoplasms Diethylnitrosamine 10.952862719 19426721 2422723 19690152 19996281 19073162 15885732 19638242 19294768 18977376 20583210 19812893 19427195 18754104 9163691 20137499 19254457 19833225 10737359 12771043 20492335 18644402 20405173 21278145 18978307 21047994 19642983 19499222 18648771 12112319 20118626 20452335 20501860 15175105 16942905 19256749 21167192 19551842 20434301 19850985 19090486 20101389 19255062 21071580
MESH:D008113 Liver Neoplasms Methapyrilene 10.9515890375
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 10.116135515 2876784 2876786
MESH:D008114 Liver Neoplasms, Experimental beta-Naphthoflavone 10.1118164116
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 10.119362446 19009564 19004024 3124819 18253720 18775883 18164116 19539802 18308698 18093689 19519916 18079962 18282651 16267830 21159647 18544905 16842330 2563599 17854601 17174075 19126423 17942915
MESH:D008171 Lung Diseases Vitamin E 3.2116863852
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.3617228818
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.5121163286 6695378 20970405 20512841
MESH:D008175 Lung Neoplasms Vitamin E 2.5111062179
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6419513568
MESH:D008569 Memory Disorders Ethanol 4.2518411066 15451040
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.8816801185
MESH:D008881 Migraine Disorders Valproic Acid 3.2318765137 18803445
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.088888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.1817596541
MESH:D009336 Necrosis 2,4-dinitrotoluene 10.6318551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 10.6318551238 7678174
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.593581430 9029167
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5417954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3319348381 18481113
MESH:D009436 Neural Tube Defects Valproic Acid 3.168888407 16359493
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.3318514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 8.3320387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.2120387270
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 15.4612819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 15.4616049721
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 15.4614694615
MESH:D010146 Pain Acetaminophen 2.4316870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 5.5016540662
MESH:D010190 Pancreatic Neoplasms Ethanol 5.5012384795
MESH:D011230 Precancerous Conditions Cyclosporine 9.1012371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 9.102563599
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 3.9120603192
MESH:D011471 Prostatic Neoplasms Vitamin E 3.3015084515
MESH:D019310 Pseudolymphoma Valproic Acid 4.6411422049 12752131
MESH:D011565 Psoriasis Cyclosporine 2.2416882103
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.2319155313
MESH:D012559 Schizophrenia Valproic Acid 2.0719110320 15737665
MESH:D012640 Seizures 2,4-dinitrotoluene 14.4118551238
MESH:D012640 Seizures 2,6-dinitrotoluene 14.4118551238
MESH:D012640 Seizures Ethanol 14.419754883
MESH:D012640 Seizures Valproic Acid 14.4114763951 11738929 16876388 17978042 1511512 3137016 11044598 15475178
MESH:D012871 Skin Diseases Vitamin E 2.4518709164
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8219490988
MESH:D013226 Status Epilepticus Valproic Acid 4.6412833885
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 2.6218456281
MESH:D013274 Stomach Neoplasms Ethanol 2.6218456281
MESH:D013276 Stomach Ulcer Ethanol 3.589211565 17918041 9562338 11906479 17189318 16755016
MESH:D020521 Stroke Vitamin E 3.5616517955
MESH:D013375 Substance Withdrawal Syndrome Ethanol 4.309754883
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.027505956
MESH:D014178 Translocation, Genetic Valproic Acid 5.3317262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.603119515
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.0816049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.0816049721
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.718888407
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.2710091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.2710091137
MESH:D014581 Urticaria Acetaminophen 3.0310982225
MESH:D014605 Uveitis Cyclosporine 4.081336536
MESH:D014985 Xerophthalmia Cyclosporine 4.5417120751
Pathway ID Pathway Name
KEGG:04141 Protein processing in endoplasmic reticulum
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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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