AutismKB 2.0

Annotation Detail for APBA2


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Basic Information Top
Gene Symbol:APBA2 ( D15S1518E,HsT16821,LIN-10,MGC99508,MGC:14091,MINT2,X11L )
Gene Full Name: amyloid beta (A4) precursor protein-binding, family A, member 2
Band: 15q13.1
Quick LinksEntrez ID:321; OMIM: 602712; Uniprot ID:APBA2_HUMAN; ENSEMBL ID: ENSG00000034053; HGNC ID: 579
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
P00003Alzheimer disease-amyloid secretase pathway
No data
Related Diseases/Disorders Top
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Desease IDDesease Name
2069Schizophrenia
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of APBA2 mRNAaffects expression 21346803
D000643 Ammonium Chloride Ammonium Chloride affects the expression of APBA2 mRNAaffects expression 16483693
D005472 Fluorouracil APBA2 protein affects the susceptibility to Fluorouracilaffects response to substance 16217747
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.3018287403
MESH:D000230 Adenocarcinoma Fluorouracil 2.5017638652
MESH:D000740 Anemia Fluorouracil 4.1617963324 15504547 16511603
MESH:D001943 Breast Neoplasms Fluorouracil 2.4316110121 16557594 18357371 16595493 18608205 15136595 19217205
MESH:D002276 Carcinoid Tumor Fluorouracil 5.5316051944
MESH:D002277 Carcinoma Fluorouracil 3.9317121937
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.2416705839
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 3.2417971768 16332177 16799960 18930000 17088986 17045692
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.1818695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5818986760 16757204 17066447 16280240
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 3.066135515
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2916340194 16510598 17287894 17725105 17172411 18772588 17016597 15001691 17018589 17169374
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0017594712 17695437 18949393 20501625 15289873 16391804 15148649 18448328 16303861 17255274 17016601 18802399 17454858 14970324 18288408 16524972 18383874 16331619 18509181 17401013 17094418 16282729
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.6718551238
MESH:D007644 Darier Disease Fluorouracil 5.5316733453
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 2.0618551238 21346803
MESH:D004938 Esophageal Neoplasms Fluorouracil 2.5316481741 15173087 16785472 16337965 17638652
MESH:D005910 Glioma Fluorouracil 3.0016145905
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.6715162350 18337622 15102660
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.8016705839
MESH:D007680 Kidney Neoplasms Fluorouracil 8.8016985049
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 5.107678174
MESH:D008113 Liver Neoplasms Fluorouracil 5.1015113037 17045692 16603448 18383874
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.792876786 2876784 6135515
MESH:D008175 Lung Neoplasms Fluorouracil 2.0115246190
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.5315086387
MESH:D009062 Mouth Neoplasms Fluorouracil 3.9816757204 18986760
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.6018551238 7678174
MESH:D009369 Neoplasms Fluorouracil 2.7918239605 18600527 16928823
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.7216436463
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.8816049721
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7816929163 19003803 16500647 15113037
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.3419082440 18626508
MESH:D012004 Rectal Neoplasms Fluorouracil 4.4315538739 18286688 16160472 18722050
MESH:D012640 Seizures 2,6-dinitrotoluene 2.8218551238
MESH:D013274 Stomach Neoplasms Fluorouracil 2.0016951190 19084572 19015929 17498489 18567086 17172411 18396642 15786421 16424979 17522103
MESH:D014062 Tongue Neoplasms Fluorouracil 4.4416280240
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.4216049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 5.0610091137
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.3316803524
No data
Pharmacogenomics Knowledge Base Top
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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