AutismKB 2.0

Annotation Detail for C1orf52


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:C1orf52 ( FLJ44982,RP11-234D19.1,gm117 )
Gene Full Name: chromosome 1 open reading frame 52
Band: 1p22.3
Quick LinksEntrez ID:148423; OMIM: NA; Uniprot ID:CA052_HUMAN; ENSEMBL ID: ENSG00000162642; HGNC ID: 24871
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016572 Cyclosporine Cyclosporine results in increased expression of C1ORF52 mRNAincreases expression 20106945
D013467 Sulindac Sulindac results in increased expression of C1ORF52 mRNAincreases expression 11906190
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Sulindac 6.5714745880
MESH:D058186 Acute Kidney Injury Sulindac 4.867897758
MESH:D000230 Adenocarcinoma Sulindac 3.2011910360
MESH:D000236 Adenoma Sulindac 4.0310223192
MESH:D011125 Adenomatous Polyposis Coli Sulindac 5.1011874996 11535846 16460482 15623613 19003578 12394442 17611924
MESH:D001913 Bowen's Disease Sulindac 6.4211207687
MESH:D001943 Breast Neoplasms Sulindac 3.1116642371
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.8512371664
MESH:D002779 Cholestasis Cyclosporine 3.2819486331
MESH:D003110 Colonic Neoplasms Sulindac 2.9812902858 12458338
MESH:D015179 Colorectal Neoplasms Sulindac 2.6910666051 11076880 18059344 11197048
MESH:D003930 Diabetic Retinopathy Sulindac 5.8517621415 12861449
MESH:D004715 Endometriosis Sulindac 4.9815652904
MESH:D004938 Esophageal Neoplasms Sulindac 3.2212235107
MESH:D005234 Fatty Liver Cyclosporine 3.4019224547
MESH:D018221 Fibromatosis, Abdominal Sulindac 6.3614745880
MESH:D018222 Fibromatosis, Aggressive Sulindac 6.0219069698
MESH:D005355 Fibrosis Cyclosporine 3.9012639820 12168785
MESH:D005764 Gastroesophageal Reflux Sulindac 5.6911910360
MESH:D005885 Gingival Hyperplasia Cyclosporine 5.118708960
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.3115720958
MESH:D006973 Hypertension Cyclosporine 2.2410903974
MESH:D007249 Inflammation Sulindac 3.523291741
MESH:D007414 Intestinal Neoplasms Sulindac 5.1412351151 10213222 12628509 10223192 12584176 12663524
MESH:D007417 Intestinal Polyps Sulindac 5.5912394442 11245490
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.5115604871
MESH:D007674 Kidney Diseases Cyclosporine 2.588314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 3.1712371664
MESH:D008105 Liver Cirrhosis, Biliary Sulindac 4.5012468960
MESH:D008107 Liver Diseases Sulindac 3.1116867024 14986274
MESH:D008175 Lung Neoplasms Sulindac 2.7015713900 19359593
MESH:D008545 Melanoma Sulindac 2.8816642371
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.8616801185
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.5117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.7518481113 19348381
MESH:D019636 Neurodegenerative Diseases Sulindac 4.7017266991 16850258
MESH:D010146 Pain Sulindac 4.223291741
MESH:D010190 Pancreatic Neoplasms Sulindac 3.4811504793 16820089
MESH:D011230 Precancerous Conditions Cyclosporine 3.6912371664
MESH:D011565 Psoriasis Cyclosporine 2.3516882103
MESH:D014594 Uterine Neoplasms Sulindac 5.2718645019
MESH:D014605 Uveitis Cyclosporine 5.051336536
MESH:D014985 Xerophthalmia Cyclosporine 5.5117120751
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