AutismKB 2.0

Annotation Detail for SASH1


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Basic Information Top
Gene Symbol:SASH1 ( KIAA0790,RP3-323M4.1,SH3D6A,dJ323M4,dJ323M4.1 )
Gene Full Name: SAM and SH3 domain containing 1
Band: 6q24.3-q25.1
Quick LinksEntrez ID:23328; OMIM: 607955; Uniprot ID:SASH1_HUMAN; ENSEMBL ID: ENSG00000111961; HGNC ID: 19182
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
protein quantitative trait loci
Alzheimer's disease
NEUROLOGICAL
Desease Name
Alzheimer's disease
Protein quantitative trait loci
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C006632 arsenic trioxide arsenic trioxide results in increased expression of SASH1 mRNAincreases expression 20458559
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of SASH1 mRNAdecreases expression 20064835
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of SASH1 mRNAdecreases expression 20018196
19150397
D004958 Estradiol [Estradiol co-treated with Tetrachlorodibenzodioxin] results in decreased expression of SASH1 mRNAaffects cotreatment|decreases expression 19619570
D004958 Estradiol Estradiol results in increased expression of SASH1 mRNAincreases expression 19619570
D004958 Estradiol [Progesterone co-treated with Estradiol] results in decreased expression of SASH1 mRNAaffects cotreatment|decreases expression 17404688
C071834 glycidamide glycidamide results in decreased expression of SASH1 mRNAdecreases expression 17822822
D011374 Progesterone [Progesterone co-treated with Estradiol] results in decreased expression of SASH1 mRNAaffects cotreatment|decreases expression 17404688
D011374 Progesterone Progesterone affects the expression of SASH1 mRNAaffects expression 17251523
D013749 Tetrachlorodibenzodioxin [Estradiol co-treated with Tetrachlorodibenzodioxin] results in decreased expression of SASH1 mRNAaffects cotreatment|decreases expression 19619570
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SASH1 mRNAincreases expression 11489354
20106945
19619570
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SASH1 mRNAincreases expression 19465110
C496197 trans-10,cis-12-conjugated linoleic acid trans-10,cis-12-conjugated linoleic acid results in decreased expression of SASH1 mRNAdecreases expression 17951470
D014635 Valproic Acid Valproic Acid results in increased expression of SASH1 mRNAincreases expression 19101580
D014810 Vitamin E Vitamin E results in decreased expression of SASH1 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.1114514962 11752688 15322242
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 9.118875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1019490988
MESH:D000230 Adenocarcinoma arsenic trioxide 7.2919825857 11798837
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 7.2920464547 20127859
MESH:D000230 Adenocarcinoma Estradiol 7.2911473722
MESH:D000236 Adenoma Benzo(a)pyrene 2.746695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6116835633
MESH:D000550 Amblyopia Valproic Acid 5.5017688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D001008 Anxiety Disorders Valproic Acid 3.7117497229
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2919183758
MESH:D001321 Autistic Disorder Valproic Acid 1.9918940202 17507914 18775368 17688650 18396377 15238991 18177632 18558336 16609825 18985861 19460635 18316065 20603192 19232924 17157402
MESH:D001714 Bipolar Disorder Valproic Acid 3.1517594078 20046352
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 9.5416206674
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.5412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.3715746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.378888407
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.6017868700
MESH:D001930 Brain Injuries Progesterone 4.4715665606 15380490 15845082
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9517474063 20146248
MESH:D001943 Breast Neoplasms Estradiol 1.9517289903 12948864 14630087 16675129 17261762 19861407 18497071 17018787
MESH:D001943 Breast Neoplasms Progesterone 1.9517614352 15562024 16175315
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9520435547
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.5111589617
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.7016111702
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1516050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9316835633
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 3.1016217749 15553829 15073043 11135700 14691202
MESH:D006528 Carcinoma, Hepatocellular Estradiol 3.1016924424
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.1419014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.2812490120
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0920419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4516120746 18850075 18670907
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.0320889678
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.0318566989
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7620734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1612621046 15340226 16354765 15668235 8697196
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2117141729 14669216
MESH:D023903 Coronary Restenosis arsenic trioxide 4.3812609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 5.5410525206
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 5.5420055451 15322242 10048152
MESH:D019465 Craniofacial Abnormalities Valproic Acid 5.548888407 17688650 16575769
MESH:D019465 Craniofacial Abnormalities Vitamin E 5.5419769572
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.2815213294
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7017107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.5619279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.7117187935
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9220420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 3.9219641884 1733752
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D004421 Dystonia Valproic Acid 4.231851702
MESH:C538011 Eales disease Vitamin E 4.979068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1718230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 3.9817692515
MESH:D016889 Endometrial Neoplasms Estradiol 3.0911473722 18566989 19148513
MESH:D004715 Endometriosis Progesterone 9.4716134523
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 9.4710568697 9294722
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.373659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.1816628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0118234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.747562514 6426943 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.517750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.303659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.4420426865
MESH:D004938 Esophageal Neoplasms arsenic trioxide 7.4412903497
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.4416530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver arsenic trioxide 8.4915073043
MESH:D005234 Fatty Liver Valproic Acid 8.4914986274 19224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005315 Fetal Diseases Valproic Acid 5.1516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.3318558336 8888407
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1620067830
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.4616904648
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 11.5920471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 11.5910048152 11294989
MESH:D006330 Heart Defects, Congenital Vitamin E 11.5916080930
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1112621046 15340226 16120746
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7516490937 16863852
MESH:D006558 Herpes Genitalis Estradiol 5.3015709030
MESH:D019584 Hot Flashes Estradiol 10.9517088409
MESH:D019584 Hot Flashes Vitamin E 10.9514716179
MESH:D006849 Hydrocephalus Valproic Acid 5.1017688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.318697196 15340226 16354765 16959395 18606429
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9618850075 18670907
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.6215869954
MESH:D007249 Inflammation Progesterone 5.2515869954
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2512878042 12200463
MESH:D007251 Influenza, Human Vitamin E 4.4816624496
MESH:D007333 Insulin Resistance Estradiol 3.0716627594 16393666
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007674 Kidney Diseases Estradiol 6.4115618244
MESH:D007674 Kidney Diseases Vitamin E 6.4112488133
MESH:D007680 Kidney Neoplasms Estradiol 3.1215610895
MESH:D007938 Leukemia arsenic trioxide 2.9115070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.9712560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.5416972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.5514633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.9319077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 4.0020471514 19850784 17050201 16467208 16968895
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 4.0016294345 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.3216823087 16891316 15336539 15213294 11161223 19642359 19225113 9834237 15748426 17107899 16331271 16112521 17869043 17712046 15622746 16330433 12679006 11468182 16966277 12712474 17649720 17217047 19075265 12018890 19035177
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.5516882451
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.5514716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5512878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.5516169303
MESH:D008113 Liver Neoplasms arsenic trioxide 7.7214682389
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.7221137059 20195826
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.7216984957
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.1420377131
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.1412151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.4815213294
MESH:D008171 Lung Diseases Vitamin E 3.2916863852
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.5317228818
MESH:D008175 Lung Neoplasms arsenic trioxide 4.9711798837 19825857
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 4.9718520028 6695378 17053015 18569708 20464547 20869020 18816296 20135361 20064080
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.9711884234 19555203
MESH:D008175 Lung Neoplasms Vitamin E 4.9711062179
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.4116891317 17203775 11807958 11408345
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 6.4117203775 11408345
MESH:D020149 Manganese Poisoning Estradiol 4.7519453300
MESH:D008881 Migraine Disorders Valproic Acid 3.3118765137 18803445
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3216381670
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2215949261 19549372 14977855 11468182 19417148
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.208888407
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.9418349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 7.7216105982 16882451
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 7.7217596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.4116810080
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.1616624393
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2411141357
MESH:D009389 Neovascularization, Pathologic Estradiol 3.9717289903
MESH:D009421 Nervous System Malformations Estradiol 10.1416427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.1414600291
MESH:D009436 Neural Tube Defects arsenic trioxide 7.6910525206
MESH:D009436 Neural Tube Defects Valproic Acid 7.6916359493 8888407
MESH:D010051 Ovarian Neoplasms arsenic trioxide 8.1712452020 19769630 16624393
MESH:D010051 Ovarian Neoplasms Estradiol 8.1719401270
MESH:D010051 Ovarian Neoplasms Progesterone 8.1716525653 17393432
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5815580305
MESH:D010235 Paraganglioma arsenic trioxide 4.3519927285
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.2711118676 11222880 11896295 11399792
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 10.2720603192
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0620887781
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.0419131511
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.0417292933
MESH:D011471 Prostatic Neoplasms Estradiol 2.0416740699
MESH:D011471 Prostatic Neoplasms Vitamin E 2.0415084515
MESH:D019310 Pseudolymphoma Valproic Acid 4.8112752131 11422049
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.3619155313
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9118045962
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.1616646077
MESH:D012559 Schizophrenia Valproic Acid 2.0915737665 19110320
MESH:D012640 Seizures Valproic Acid 2.8516876388 3137016 15475178 14763951 17978042 11044598 11738929 1511512
MESH:D012871 Skin Diseases Vitamin E 2.4818709164
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.7210029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7216192470
MESH:D013119 Spinal Cord Injuries Progesterone 4.5216503802 15862959
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9119490988
MESH:D013226 Status Epilepticus Valproic Acid 4.8112833885
MESH:D013274 Stomach Neoplasms arsenic trioxide 2.4017007042
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.4020155912 2093021
MESH:D020521 Stroke Vitamin E 3.6616517955
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.2219014326
MESH:D013978 Tibial Fractures Estradiol 4.9519048282
MESH:D016171 Torsades de Pointes arsenic trioxide 4.2015213294
MESH:D014178 Translocation, Genetic Valproic Acid 5.5017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.763119515
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.2412973940 20435036 11780464 12845720
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.2417053015
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.868888407
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
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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