AutismKB 2.0

Annotation Detail for APBA1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:APBA1 ( D9S411E,MINT1,X11,X11A,X11ALPHA )
Gene Full Name: amyloid beta (A4) precursor protein-binding, family A, member 1
Band: 9q21.12
Quick LinksEntrez ID:320; OMIM: 602414; Uniprot ID:APBA1_HUMAN; ENSEMBL ID: ENSG00000107282; HGNC ID: 578
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
No data
No data
Pathway IDPathway Name
P00003Alzheimer disease-amyloid secretase pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1740Alzheimer's disease
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of APBA1 mRNAincreases expression 18648102
D000643 Ammonium Chloride Ammonium Chloride affects the expression of APBA1 mRNAaffects expression 16483693
D019256 Cadmium Chloride [sodium arsenite co-treated with Cadmium Chloride co-treated with chromium oxide co-treated with chromous chloride co-treated with lead acetate] results in decreased expression of APBA1 mRNAaffects cotreatment|decreases expression 12634122
C023600 chromium oxide [sodium arsenite co-treated with Cadmium Chloride co-treated with chromium oxide co-treated with chromous chloride co-treated with lead acetate] results in decreased expression of APBA1 mRNAaffects cotreatment|decreases expression 12634122
C017133 chromous chloride [sodium arsenite co-treated with Cadmium Chloride co-treated with chromium oxide co-treated with chromous chloride co-treated with lead acetate] results in decreased expression of APBA1 mRNAaffects cotreatment|decreases expression 12634122
D003300 Copper APBA1 protein affects the metabolism of and affects the transport of and affects the abundance of Copperaffects abundance|affects metabolic processing|affects transport 16545469
D003300 Copper APBA1 protein binds to [CCS protein binds to Copper]affects binding 16545469
D004958 Estradiol Estradiol results in increased expression of APBA1 mRNAincreases expression 20068009
C008261 lead acetate [sodium arsenite co-treated with Cadmium Chloride co-treated with chromium oxide co-treated with chromous chloride co-treated with lead acetate] results in decreased expression of APBA1 mRNAaffects cotreatment|decreases expression 12634122
C017947 sodium arsenite [sodium arsenite co-treated with Cadmium Chloride co-treated with chromium oxide co-treated with chromous chloride co-treated with lead acetate] results in decreased expression of APBA1 mRNAaffects cotreatment|decreases expression 12634122
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D000230 Adenocarcinoma Estradiol 2.1411473722
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.863712494
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 5.0215276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.2217306315 16712894
MESH:D000544 Alzheimer Disease Copper 3.2716410023 16325427 17119284 16866297 16886094 16962711
MESH:D000690 Amyotrophic Lateral Sclerosis Copper 4.4110694572
MESH:D018798 Anemia, Iron-Deficiency Copper 5.0716614410
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.3411289319 1440618
MESH:D001932 Brain Neoplasms Copper 4.7517079463
MESH:D001943 Breast Neoplasms Copper 2.5217079463 15986119
MESH:D001943 Breast Neoplasms Estradiol 2.5216675129 12948864 19861407 17289903 17261762 17018787 14630087 18497071
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.7516111702
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.747296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.7416924424
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 4.7416507464 17306315 15276417
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.767296757
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 2.4318572023
MESH:D006332 Cardiomegaly Copper 4.1217327471
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 12.017505956
MESH:D002471 Cell Transformation, Neoplastic Estradiol 12.0118566989
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 12.0120056578 19524636
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.3019486331 9022650
MESH:D019465 Craniofacial Abnormalities lead acetate 3.1519769572
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.0612868966 14531868 11906362 2524372 8156756 8970840 11298694 18759878
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.712952479 3621924
MESH:D003928 Diabetic Nephropathies Estradiol 3.5919279558
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 2.006679447 18289764 16192314 11289319 1440618 7440962 9328219 18648102 18692083 6482804 9022650 8291058 9653073
MESH:D016889 Endometrial Neoplasms Estradiol 3.1119148513 11473722 18566989
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.153581430
MESH:D005317 Fetal Growth Retardation lead acetate 5.6219769572
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.346705139
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.9616452187
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.267505956
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.756705139
MESH:D006521 Hepatitis, Chronic Copper 5.5917338147
MESH:D006527 Hepatolenticular Degeneration Copper 5.4317276780 16607473 19888908 17182432 17109627
MESH:D006558 Herpes Genitalis Estradiol 5.3515709030
MESH:D006689 Hodgkin Disease sodium arsenite 3.3312676792
MESH:D019584 Hot Flashes Estradiol 4.0717088409
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.2015034207
MESH:D007248 Infertility, Male sodium arsenite 3.1212646999 15346721
MESH:D007333 Insulin Resistance Estradiol 3.0916627594 16393666
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.348074119 9022650
MESH:D007674 Kidney Diseases Cadmium Chloride 10.8516962696
MESH:D007674 Kidney Diseases Estradiol 10.8515618244
MESH:D007674 Kidney Diseases sodium arsenite 10.8520008137
MESH:D007676 Kidney Failure, Chronic Copper 5.1016518626
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.946582329
MESH:D007680 Kidney Neoplasms Estradiol 7.9415610895
MESH:D007859 Learning Disorders Copper 5.0517134702
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.319327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 1.6814659978 14716833
MESH:D008113 Liver Neoplasms Copper 5.2820302851
MESH:D008113 Liver Neoplasms sodium arsenite 5.2816712894 15276417
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.65598648 6587162 1399818 3712494
MESH:D008171 Lung Diseases sodium arsenite 3.3019095001
MESH:D008175 Lung Neoplasms sodium arsenite 1.8917077188 16712894 15276417 19931552 17306315
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.6816891317 17203775 11807958 11408345
MESH:D020149 Manganese Poisoning Estradiol 4.8019453300
MESH:D008545 Melanoma sodium arsenite 2.0516487513 19082730
MESH:D007706 Menkes Kinky Hair Syndrome Copper 6.1717109627 17268249
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.4416810080
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.543581430
MESH:D009369 Neoplasms sodium arsenite 2.5811559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.9220056578
MESH:D009389 Neovascularization, Pathologic Copper 11.3217308104
MESH:D009389 Neovascularization, Pathologic Estradiol 11.3217289903
MESH:D009421 Nervous System Malformations Estradiol 3.8911399458 16427766
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 7.696679447
MESH:D009436 Neural Tube Defects sodium arsenite 7.6912854658
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.616482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.343988306
MESH:D010051 Ovarian Neoplasms Estradiol 5.0219401270
MESH:D010051 Ovarian Neoplasms sodium arsenite 5.0217306315 15276417
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.747296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.796228378
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0920887781
MESH:D011471 Prostatic Neoplasms Copper 2.6717308104 17079463
MESH:D011471 Prostatic Neoplasms Estradiol 2.6716740699
MESH:D011471 Prostatic Neoplasms sodium arsenite 2.6716039940
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.523692021
MESH:D012559 Schizophrenia Copper 3.1016842975
MESH:D012878 Skin Neoplasms sodium arsenite 2.7819524636 18572023
MESH:D016135 Spinal Dysraphism sodium arsenite 3.9512854658
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.046587162 6582329 1399818 7505956 3712494
MESH:D013978 Tibial Fractures Estradiol 5.0019048282
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.328074119
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 5.3216452187 16712894 17306315 11723127
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 3.9611813266
MESH:D014652 Vascular Diseases sodium arsenite 4.7117056641
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