AutismKB 2.0

Annotation Detail for SPEN


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SPEN ( HIAA0929,KIAA0929,MINT,RBM15C,SHARP )
Gene Full Name: spen homolog, transcriptional regulator (Drosophila)
Band: 1p36.21-p36.13
Quick LinksEntrez ID:23013; OMIM: 613484; Uniprot ID:MINT_HUMAN; ENSEMBL ID: ENSG00000065526; HGNC ID: 17575
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
No data
Pathway IDPathway Name
200013Notch signaling pathway
200196Notch-mediated HES/HEY network
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
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 SPEN mRNAdecreases expression 20382639
20018196
19150397
D010269 Paraquat Paraquat results in decreased expression of SPEN mRNAdecreases expression 15458575
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of SPEN mRNAaffects binding|increases activity|increases expression 19710929
D012643 Selenium [Selenium co-treated with Vitamin E] results in decreased expression of SPEN mRNAaffects cotreatment|decreases expression 19244175
D012643 Selenium Selenium results in decreased expression of SPEN mRNAdecreases expression 19244175
C004648 testosterone enanthate testosterone enanthate results in increased expression of SPEN mRNAincreases expression 17440010
D014810 Vitamin E [Selenium co-treated with Vitamin E] results in decreased expression of SPEN mRNAaffects cotreatment|decreases expression 19244175
D014810 Vitamin E Vitamin E results in decreased expression of SPEN mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.9416434500
MESH:D000382 Agricultural Workers' Diseases Paraquat 4.2211874814
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.4719483382
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.3516050911
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9320889678
MESH:D002779 Cholestasis pirinixic acid 3.0519176532
MESH:D003092 Colitis Selenium 4.2017936198
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9219769572
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D056486 Drug-Induced Liver Injury Selenium 2.2415131321
MESH:C538011 Eales disease Vitamin E 5.229068938
MESH:D004487 Edema pirinixic acid 2.8012083418
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1320426865
MESH:D005234 Fatty Liver pirinixic acid 3.0920131406 19236843
MESH:D005911 Gliosis Paraquat 5.6811124998
MESH:D006330 Heart Defects, Congenital Vitamin E 3.1316080930
MESH:D006333 Heart Failure pirinixic acid 7.5520558911
MESH:D006333 Heart Failure Selenium 7.5517162251
MESH:D006529 Hepatomegaly pirinixic acid 3.4118467677 19176532 16221962 19772884
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7916863852 16490937
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 6.2717440010
MESH:D019584 Hot Flashes Vitamin E 4.4914716179
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D007248 Infertility, Male Paraquat 3.454850670
MESH:D007251 Influenza, Human Selenium 12.7616624496
MESH:D007251 Influenza, Human Vitamin E 12.7616624496
MESH:D007333 Insulin Resistance pirinixic acid 2.8216306350
MESH:D007674 Kidney Diseases Vitamin E 2.9612488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.2116518626
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.4515474484
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.4516169303
MESH:D008113 Liver Neoplasms pirinixic acid 1.9115890375 16377806 20007298
MESH:D008171 Lung Diseases Vitamin E 3.3716863852
MESH:D008175 Lung Neoplasms Vitamin E 1.9011062179
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.9515318939
MESH:D008654 Mesothelioma Selenium 2.8915107826
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D009369 Neoplasms pirinixic acid 2.0817405874
MESH:D009410 Nerve Degeneration Paraquat 3.9616893418
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D010300 Parkinson Disease Paraquat 2.9111445065 11181820 15451049 16140633 16510128 11124998 12911755 15824117
MESH:D010302 Parkinson Disease, Secondary Paraquat 4.8516190885
MESH:D010954 Plasmacytoma Selenium 5.4115087411
MESH:D011014 Pneumonia Paraquat 4.9112504350
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2515084515
MESH:D011658 Pulmonary Fibrosis Paraquat 3.0117997886 16324872
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D012128 Respiratory Distress Syndrome, Adult Paraquat 4.2611700416
MESH:D012135 Respiratory Sounds Paraquat 4.4711874814
MESH:D012162 Retinal Degeneration Paraquat 4.1016458197
MESH:D012871 Skin Diseases Vitamin E 2.5018709164
MESH:D020521 Stroke Vitamin E 3.7716517955
No data
Pharmacogenomics Knowledge Base Top
Drug Bank Top

Simple Query:


  (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