AutismKB 2.0

Annotation Detail for SMC1A


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Basic Information Top
Gene Symbol:SMC1A ( CDLS2,DKFZp686L19178,DXS423E,KIAA0178,MGC138332,SB1.8,SMC1,SMC1L1,SMC1alpha,SMCB )
Gene Full Name: structural maintenance of chromosomes 1A
Band: Xp11.22
Quick LinksEntrez ID:8243; OMIM: 300040; Uniprot ID:SMC1A_HUMAN; ENSEMBL ID: ENSG00000072501; HGNC ID: 11111
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04110Cell cycle
hsa04114Oocyte meiosis
Pathway IDPathway Name
Cell Cycle, Mitotic
DNA Replication
mRNA Processing
Gene Expression
No data
No data
Pathway IDPathway Name
500909M Phase
500866mRNA Splicing - Major Pathway
500976Mitotic Prometaphase
500868Mitotic Metaphase/Anaphase Transition
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Cornelia de Lange syndrome 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of SMC1A mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of SMC1A mRNAincreases expression 18648102
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of SMC1A mRNAaffects expression 21346803
D000111 Acetylcysteine Acetylcysteine inhibits the reaction [Doxorubicin promotes the reaction [ATM protein results in increased phosphorylation of SMC1A protein]]decreases reaction|increases phosphorylation|increases reaction 15489221
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SMC1A mRNAaffects expression 16483693
C074702 chromium hexavalent ion chromium hexavalent ion promotes the reaction [ATR protein results in increased phosphorylation of SMC1A protein]increases phosphorylation|increases reaction 16876463
C074702 chromium hexavalent ion chromium hexavalent ion results in increased phosphorylation of SMC1A proteinincreases phosphorylation 16876463
C074702 chromium hexavalent ion RAD17 protein affects the reaction [chromium hexavalent ion promotes the reaction [ATR protein results in increased phosphorylation of SMC1A protein]]affects reaction|increases phosphorylation|increases reaction 16876463
C074702 chromium hexavalent ion RAD17 protein affects the reaction [chromium hexavalent ion results in increased phosphorylation of SMC1A protein]affects reaction|increases phosphorylation 16876463
D004317 Doxorubicin Acetylcysteine inhibits the reaction [Doxorubicin promotes the reaction [ATM protein results in increased phosphorylation of SMC1A protein]]decreases reaction|increases phosphorylation|increases reaction 15489221
D004317 Doxorubicin Doxorubicin promotes the reaction [ATM protein results in increased phosphorylation of SMC1A protein]increases phosphorylation|increases reaction 15489221
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SMC1A mRNAaffects cotreatment|increases expression 17942748
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of SMC1A mRNAdecreases expression 15576828
D005419 Flavonoids Flavonoids results in decreased expression of SMC1A mRNAdecreases expression 18035473
C015329 lycopene lycopene results in decreased expression of SMC1A mRNAdecreases expression 16886892
C006253 pirinixic acid pirinixic acid results in decreased expression of SMC1A mRNAdecreases expression 17426115
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of SMC1A mRNAdecreases expression 17101203
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SMC1A mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 9.007525203
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.0014514962 15322242 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.7118287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1217505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.2318653653
MESH:D000230 Adenocarcinoma Doxorubicin 4.4717418594
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.4714692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.813712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.4216434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.4216835633
MESH:D000419 Albuminuria Doxorubicin 4.6721441931
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0511748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6011256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7315885639
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.191440618 11289319
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.1419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.1412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8315746008
MESH:D019046 Bone Marrow Neoplasms Doxorubicin 4.8714601052
MESH:D001932 Brain Neoplasms Doxorubicin 3.9117150277
MESH:D001943 Breast Neoplasms Doxorubicin 2.1017983394 16826403 11325840 15136595 16096432 15994142 18628466 15939500 17369602 17426702 16115903 16264153 19526202 18382427 16595493 16935488 15567936 18234424 15692762 15634643 15668708 15993339 16322301 18695136
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.1020435547
MESH:D002276 Carcinoid Tumor Doxorubicin 4.9816051944
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8916835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.7116705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.713581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Doxorubicin 4.7118059187 16234567 17876044 16023760
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 6.717296757
MESH:D002292 Carcinoma, Renal Cell Doxorubicin 6.7116201981 1485588
MESH:D002294 Carcinoma, Squamous Cell Acetylcysteine 5.2317015178
MESH:D002294 Carcinoma, Squamous Cell Doxorubicin 5.236189445
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4216120746 18850075 18670907
MESH:D009202 Cardiomyopathies Doxorubicin 3.6015505089 17519947 16952015 18627295 16731534 17308081 17928571 17351982 17382496 17007740 17924179 16651473 16109756 16364871 15811867 16269455 17974986 17131338 15792986 15476868 16278810 17329180 16612575 16455267 16242529
MESH:D002311 Cardiomyopathy, Dilated Doxorubicin 2.9817334414 16243910
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 3.6914694615
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 11.766135515
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 11.767505956
MESH:D002471 Cell Transformation, Neoplastic Acetylcysteine 11.7618226522
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2616835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 13.859022650 19486331
MESH:D002779 Cholestasis Ethinyl Estradiol 13.8516105132 16919318 11677210 15861022 17681005 17110522 17333356
MESH:D002779 Cholestasis pirinixic acid 13.8519176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1416354765 15340226 8697196 12621046 15668235
MESH:D015179 Colorectal Neoplasms Doxorubicin 2.1418259882 18802399
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 9.5215095906
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 9.5214669216 17141729
MESH:C536442 Cornelia de Lange syndrome 2 marker/mechanism
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.1618551238
MESH:D003550 Cystic Fibrosis Acetylcysteine 4.4819747007
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.9411298694 11906362 2524372 12868966 14531868 8156756 8970840 18759878
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4718249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.613621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 15.6921346803 18551238
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 15.697440962 16192314 6679447 18289764 18692083 6482804 9653073 9328219 9022650 1440618 8291058 18648102 11289319
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 15.6921346803
MESH:D056486 Drug-Induced Liver Injury Acetylcysteine 15.6911287661
MESH:D056486 Drug-Induced Liver Injury Doxorubicin 15.6917416283
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 15.6920420201
MESH:D004362 Drug Toxicity Doxorubicin 8.3818602426
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 8.3811462148
MESH:D004487 Edema pirinixic acid 6.9012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.9012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0818230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3112538720
MESH:D016889 Endometrial Neoplasms Doxorubicin 3.5217359293
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.129294722 10568697
MESH:D004719 Endomyocardial Fibrosis Doxorubicin 5.3318037988
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.133581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0911564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 7.9115345470
MESH:D005234 Fatty Liver pirinixic acid 7.9119236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5911858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.196705139
MESH:D018222 Fibromatosis, Aggressive Doxorubicin 4.7419069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.0920067830
MESH:D005909 Glioblastoma Doxorubicin 3.4217150277
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.157505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7710696789
MESH:D006258 Head and Neck Neoplasms Doxorubicin 3.6015692506
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3810048152 11294989
MESH:D006331 Heart Diseases Doxorubicin 3.5616330681 16244371 17875725 16495754 18674790 12587719 18006777 16244372 16707910 17888722 16144979 16879835 14766674
MESH:D006333 Heart Failure Doxorubicin 7.2717481944
MESH:D006333 Heart Failure pirinixic acid 7.2720558911
MESH:D006394 Hemangiosarcoma Doxorubicin 4.0115692506
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4411000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.646705139
MESH:D006529 Hepatomegaly pirinixic acid 8.7318467677 16221962 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.7312621046 15340226 16120746
MESH:D006689 Hodgkin Disease Doxorubicin 3.5015147373 17606976 18501091
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2218606429 15340226 16354765 8697196 16959395
MESH:D006943 Hyperglycemia pirinixic acid 3.2920558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.0815034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9418670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9516945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5617937319
MESH:D007249 Inflammation Flavonoids 5.1717296493
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.1712200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.7016306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.198074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4416580747
MESH:D007674 Kidney Diseases Doxorubicin 3.1115369732 16775033 15699352
MESH:D007676 Kidney Failure, Chronic Doxorubicin 4.2616707910
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.6716705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.676582329
MESH:D004915 Leukemia, Erythroblastic, Acute Doxorubicin 5.3316085563
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.269327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Doxorubicin 3.5016439617 16595196
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.5015474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5012878042
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.557678174
MESH:D008113 Liver Neoplasms pirinixic acid 7.5520007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.5516984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 14.682876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 14.683712494 1399818 6587162 598648
MESH:D008114 Liver Neoplasms, Experimental Doxorubicin 14.6816842330 17085340
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 14.6812151625
MESH:D008171 Lung Diseases Acetylcysteine 8.5412815614
MESH:D008171 Lung Diseases chromium hexavalent ion 8.5416775837
MESH:D008175 Lung Neoplasms chromium hexavalent ion 3.7016876463 16570259
MESH:D008175 Lung Neoplasms Doxorubicin 3.7017418594 6189445
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.7011884234 19555203
MESH:D008223 Lymphoma Doxorubicin 3.5416098063
MESH:D008228 Lymphoma, Non-Hodgkin Doxorubicin 3.8817654614
MESH:D016399 Lymphoma, T-Cell Doxorubicin 4.7015621674
MESH:D008325 Mammary Neoplasms, Experimental Doxorubicin 3.1015458769
MESH:D008545 Melanoma Doxorubicin 2.3016827129
MESH:D008654 Mesothelioma Doxorubicin 3.1017638057
MESH:D028361 Mitochondrial Diseases Doxorubicin 4.6115792986
MESH:D052016 Mucositis Doxorubicin 4.9417415656
MESH:D009135 Muscular Diseases pirinixic acid 3.6416239165
MESH:D009203 Myocardial Infarction Doxorubicin 5.8515857846 19429709
MESH:D009203 Myocardial Infarction pirinixic acid 5.8519151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0316411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.0118551238 7678174
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 9.893581430
MESH:D009362 Neoplasm Metastasis Acetylcysteine 9.8914720322
MESH:D009362 Neoplasm Metastasis Doxorubicin 9.8918259882
MESH:D009369 Neoplasms lycopene 5.5617051425
MESH:D009369 Neoplasms pirinixic acid 5.5617405874
MESH:D009401 Nephrosis Doxorubicin 4.9116899518 16636307
MESH:D009404 Nephrotic Syndrome Doxorubicin 4.1016889571 15640375
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3414600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 7.826679447
MESH:D009436 Neural Tube Defects Acetylcysteine 7.8219446573
MESH:D009447 Neuroblastoma Doxorubicin 3.3115555623
MESH:D009669 Nose Neoplasms chromium hexavalent ion 5.2716876463
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 15.7716049721
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 15.776482804 4026338
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 15.7714694615
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.193988306
MESH:D012516 Osteosarcoma Doxorubicin 4.2015930896
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8011578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.627296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4212520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.646228378
MESH:D003557 Phyllodes Tumor Doxorubicin 5.3317983394
MESH:D010997 Pleural Neoplasms Doxorubicin 5.3317638057
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3411118676 11896295 11399792 11222880
MESH:D011471 Prostatic Neoplasms Doxorubicin 3.8315749863 16729912 16868541 18437689 16888761 15897917
MESH:D011471 Prostatic Neoplasms lycopene 3.8317337101 15084515
MESH:D011537 Pruritus Ethinyl Estradiol 3.4716919318 15861022
MESH:D051437 Renal Insufficiency Doxorubicin 4.3617922066
MESH:D015427 Reperfusion Injury pirinixic acid 2.4319058328
MESH:D012128 Respiratory Distress Syndrome, Adult Acetylcysteine 4.6412210543
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9618990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.463692021
MESH:D012509 Sarcoma Doxorubicin 4.0916767912 18313854 15625365 17710206 15675481 17203757
MESH:D012512 Sarcoma, Ewing's Doxorubicin 4.3714601052 16326096
MESH:D012514 Sarcoma, Kaposi Doxorubicin 4.9417846226
MESH:D012640 Seizures 2,6-dinitrotoluene 2.6118551238
MESH:D012878 Skin Neoplasms Doxorubicin 5.8515692506
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8516192470
MESH:D012983 Soft Tissue Neoplasms Doxorubicin 4.7017203757 15625365 16767912
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1216709447
MESH:D013276 Stomach Ulcer Acetylcysteine 4.1017918041
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2515669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0812697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.541399818 6587162 6582329 7505956 3712494
MESH:D013964 Thyroid Neoplasms Doxorubicin 7.5416010429 17909728
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.5716049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 8.578074119
MESH:D001749 Urinary Bladder Neoplasms Doxorubicin 8.5717653716
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.4710091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4214692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6514671159 15869587
MESH:D018487 Ventricular Dysfunction, Left Doxorubicin 4.3617334414 17638931 17678736 16364871
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4215886252
Pathway ID Pathway Name
KEGG:04110 Cell cycle
REACT:152 Cell Cycle, Mitotic
REACT:383 DNA Replication
REACT:71 Gene Expression
REACT:1675 mRNA Processing
KEGG:04114 Oocyte meiosis
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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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