AutismKB 2.0

Annotation Detail for SPAST


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Basic Information Top
Gene Symbol:SPAST ( ADPSP,FSP2,KIAA1083,SPG4 )
Gene Full Name: spastin
Band: 2p22.3
Quick LinksEntrez ID:6683; OMIM: 604277; Uniprot ID:SPAST_HUMAN; ENSEMBL ID: ENSG00000021574; HGNC ID: 11233
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1832Congenital abnormality
1870Drug abuse
1792Spastic paraplegia, Hereditary
1982Myopathy
2001Mental retardation
2134Amyotrophic lateral sclerosis
2223Central nervous system disease
Desease Name
NEUROLOGICAL
spastic paraplegia
No data
Desease Name
Spastic paraplegia-4
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of SPAST mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of SPAST mRNAaffects expression 21346803
D016718 Arachidonic Acid Arachidonic Acid results in decreased expression of SPAST mRNAdecreases expression 16704987
D004054 Diethylstilbestrol Diethylstilbestrol results in decreased expression of SPAST mRNAdecreases expression 17823450
D010126 Ozone Ozone results in increased expression of SPAST mRNAincreases expression 12763052
D013749 Tetrachlorodibenzodioxin AHR protein affects the reaction [Tetrachlorodibenzodioxin results in increased expression of SPAST mRNA]affects reaction|increases expression 19465110
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SPAST mRNAincreases expression 19465110
C034613 triacsin C triacsin C results in decreased expression of SPAST mRNAdecreases expression 16704987
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2414514962 11752688 15322242
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
MESH:D000544 Alzheimer Disease Ozone 2.4815513908
MESH:D000686 Amyloidosis Diethylstilbestrol 4.8115469931
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D001172 Arthritis, Rheumatoid Ozone 2.6115570426
MESH:D001249 Asthma Ozone 2.7016373670 17854713
MESH:D001321 Autistic Disorder Arachidonic Acid 3.0118582451
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Diethylstilbestrol 2.0915324884 17129689
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0920435547
MESH:D016535 Bronchial Hyperreactivity Ozone 3.9015516495 19059883 18315731 17626835 16777450 14754758 18417511
MESH:D002100 Cachexia Ozone 5.1416183385
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.8316705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.8316705839
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 4.8315948411 16924424
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.956135515
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.208697196 12621046 16354765 15668235 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D003456 Cryptorchidism Diethylstilbestrol 4.8912952375 16002989
MESH:D003490 Cyanosis 2,4-dinitrotoluene 12.1218551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 12.1218551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.5718551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.5721346803 18551238
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema Arachidonic Acid 8.067990266 11698051 15177302 9831321 9599246 16716910
MESH:D004487 Edema Tetrachlorodibenzodioxin 8.0612711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3518230668 16714409 15322242
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 5.0916402032
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 3.6316804899 15700306
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 3.8116002989 16513791 16534752 16611131 15751030
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005334 Fever Arachidonic Acid 4.9211852909
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3120067830
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 5.3416452187
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4610048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2512621046 16120746 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4916959395 15340226 8697196 18606429 16354765
MESH:D006965 Hyperplasia Diethylstilbestrol 4.7914722030 12960047
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918850075 18670907
MESH:D007021 Hypospadias Diethylstilbestrol 4.9416002989
MESH:D007246 Infertility Diethylstilbestrol 4.6815036965
MESH:D007249 Inflammation Arachidonic Acid 5.7417371808 9831321 15177302
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.7412878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 13.8616705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.8616705839
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 13.8614681315 16762066 15003126
MESH:D007859 Learning Disorders Diethylstilbestrol 4.4217184923
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.967678174
MESH:D008113 Liver Neoplasms Diethylstilbestrol 7.9615890375 16712894
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.9616984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.272876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2712151625
MESH:D008171 Lung Diseases Ozone 3.558266340 19066396
MESH:D055370 Lung Injury Ozone 4.2120417186
MESH:D008175 Lung Neoplasms Ozone 2.448597069 7614698
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.4411884234 19555203
MESH:D008181 Lupus Nephritis Diethylstilbestrol 5.5515166399
MESH:D008223 Lymphoma Diethylstilbestrol 3.6615700306
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 5.9616002989
MESH:D008679 Metaplasia Ozone 5.5510496685
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.7018551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.7018551238 7678174
MESH:D009369 Neoplasms Diethylstilbestrol 2.8815313581
MESH:D009421 Nervous System Malformations Diethylstilbestrol 10.7611399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.7614600291
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.7816049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.7816049721
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D010538 Peritonitis Ozone 4.4916369182
MESH:D010900 Pituitary Diseases Diethylstilbestrol 5.6114722030
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 5.0316977796 15687265
MESH:D011014 Pneumonia Ozone 4.7918381685 18929643 18007984
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 10.9217184923
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.9211222880 11118676 11399792 11896295
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 3.5217136230 15046698 15846301
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012640 Seizures 2,4-dinitrotoluene 6.4718551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.4718551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1516192470
MESH:C536865 Spastic paraplegia 4, autosomal dominant marker/mechanism
MESH:D013088 Spermatocele Diethylstilbestrol 5.1616002989 16709447
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 8.8916049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.8916049721
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 8.8916452187 16712894 17306315
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 13.3510091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 13.3510091137
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 4.3016175088
MESH:D014591 Uterine Diseases Diethylstilbestrol 5.6114652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 4.4015809267 16690809
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 4.7916513791 16002989
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
No data
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  (e.g. CHD8)

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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