AutismKB 2.0

Annotation Detail for APH1B


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Basic Information Top
Gene Symbol:APH1B ( APH-1B,DKFZp564D0372,FLJ33115,PRO1328,PSFL,TAAV688 )
Gene Full Name: anterior pharynx defective 1 homolog B (C. elegans)
Band: 15q22.2
Quick LinksEntrez ID:83464; OMIM: 607630; Uniprot ID:APH1B_HUMAN; ENSEMBL ID: ENSG00000138613; HGNC ID: 24080
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Signalling by NGF
Signaling by Notch
Pathway IDPathway Name
200013Notch signaling pathway
200170Syndecan-3-mediated signaling events
200103p75(NTR)-mediated signaling
200052Presenilin action in Notch and Wnt signaling
Pathway IDPathway Name
P00003Alzheimer disease-amyloid secretase pathway
P00004Alzheimer disease-presenilin pathway
P00045Notch signaling pathway
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
Alzheimer's disease
NEUROLOGICAL
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of APH1B mRNAaffects expression 21346803
C006780 bisphenol A bisphenol A results in increased expression of APH1B mRNAincreases expression 20678512
D002995 Clofibric Acid [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of APH1B mRNAaffects cotreatment|affects expression 17602206
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of APH1B mRNAaffects cotreatment|affects expression 17602206
D004052 Diethylnitrosamine Diethylnitrosamine results in increased expression of APH1B mRNAincreases expression 19638242
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of APH1B mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of APH1B mRNAaffects binding|increases activity|increases expression 19710929
D013749 Tetrachlorodibenzodioxin AHR protein affects the reaction [Tetrachlorodibenzodioxin results in increased expression of APH1B mRNA]affects reaction|increases expression 16214954
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of APH1B mRNAincreases expression 16214954
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3114514962 15322242 11752688
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D000236 Adenoma Diethylnitrosamine 3.0110737359 6695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 20.1719052882 16434500 17620307 19061943 17162532 18056438
MESH:D018248 Adenoma, Liver Cell pirinixic acid 20.1716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 20.1716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.8719483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.8712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001862 Bone Resorption bisphenol A 4.1911985600
MESH:D001943 Breast Neoplasms bisphenol A 1.8617123778
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.8617474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.1116705839
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 3.1116807293 16698587 3581430 19107877 20935162 16540662 18785209 20101231 19394651 16328049 18506893 18691550 20524982 11831363 20084675 20214788 20007298 18056438 17428255 18971187 19519916 20432363 19335982 18665156 17761372 18494052 19171122 16681979 17055752 16779866 17978847 16935385 19539802 10737359 18393292 21159647 19052882 19822196 10672840 19418558 19701751 16569478 17173139 16502159 20514400 19383236 16288022 19208518 3084413 18978308 18788625 20512989 19919837 16830150 16878318 20727157 18210153 17162532 17138121
MESH:D002278 Carcinoma in Situ bisphenol A 5.4517123778
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.396135515
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 7.3921159647 17174075 2727394 7505956
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 10.2919052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 10.2916835633
MESH:D002779 Cholestasis pirinixic acid 3.0519176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2112621046 8697196 15340226 15668235 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.4418551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.4320387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.4317107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.6318551238 21346803
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 6.6319107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.6320420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema pirinixic acid 7.6312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.6312711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4218230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3310568697 9294722
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.6416302075
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Diethylnitrosamine 8.7820387270 21071580
MESH:D005234 Fatty Liver pirinixic acid 8.7819236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4711294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly pirinixic acid 9.6916221962 18467677 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.6915340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5716354765 18606429 16959395 15340226 8697196
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018850075 18670907
MESH:D007249 Inflammation Diethylnitrosamine 5.3818785209
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3812878042 12200463
MESH:D007333 Insulin Resistance bisphenol A 7.9616393666
MESH:D007333 Insulin Resistance pirinixic acid 7.9616306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.2416705839
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9819638242 18665156 18407596 20032147 18522880
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2115474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2112878042
MESH:D008107 Liver Diseases Diethylnitrosamine 2.1617034775
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 15.337678174
MESH:D008113 Liver Neoplasms Clofibric Acid 15.3317602206
MESH:D008113 Liver Neoplasms Diethylnitrosamine 15.3319690152 10737359 12112319 19833225 18754104 19638242 20137499 21047994 12771043 9163691 19426721 16942905 18644402 20452335 18978307 19812893 18977376 20492335 19255062 19256749 15175105 19499222 21071580 21278145 19850985 19427195 20118626 20405173 2862719 20434301 20101389 19073162 19090486 19996281 18648771 15885732 19642983 20501860 20583210 19551842 2422723 21167192 19294768 19254457
MESH:D008113 Liver Neoplasms pirinixic acid 15.3316377806 15890375 20007298
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 15.3316984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 10.872876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 10.8719126423 19009564 18253720 16267830 18093689 19539802 18079962 17854601 18544905 17174075 18775883 21159647 18164116 19004024 17942915 18282651 3124819 9362446 2563599 19519916 18308698 16842330
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.8712151625
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.3320970405 21163286 6695378 20512841
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3319555203 11884234
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.3218551238 7678174
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.679029167 3581430
MESH:D009369 Neoplasms pirinixic acid 2.0817405874
MESH:D009421 Nervous System Malformations bisphenol A 10.8816427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.8814600291
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.6120387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.6420387270
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.7416049721
MESH:D010049 Ovarian Diseases bisphenol A 5.4511985600
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.5116540662
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.842563599
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 11.1010548101
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 11.1011896295 11399792 11118676 11222880
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.5320887781
MESH:D011471 Prostatic Neoplasms bisphenol A 3.3616740699
MESH:D011629 Puberty, Precocious bisphenol A 5.2510548101
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7418551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D019966 Substance-Related Disorders bisphenol A 4.4516684133 16045194
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.227505956
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.3916049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.7810091137
MESH:D014591 Uterine Diseases bisphenol A 5.5314652134
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
Pathway ID Pathway Name
KEGG:05010 Alzheimer's disease
KEGG:04330 Notch signaling pathway
REACT:299 Signaling by Notch
REACT:11061 Signalling by NGF
Pharmacogenomics Knowledge Base Top
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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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