AutismKB 2.0

Annotation Detail for CELF1


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Basic Information Top
Gene Symbol:CELF1 ( BRUNOL2,CUG-BP,CUGBP,CUGBP1,EDEN-BP,NAB50,NAPOR,hNab50 )
Gene Full Name: CUGBP, Elav-like family member 1
Band: 11p11.2
Quick LinksEntrez ID:10658; OMIM: 601074; Uniprot ID:CELF1_HUMAN; ENSEMBL ID: ENSG00000149187; HGNC ID: 2549
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2115Muscular dystrophies
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride results in decreased expression of CELF1 proteindecreases expression 16483693
D014635 Valproic Acid Valproic Acid results in decreased expression of CELF1 mRNAdecreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.378875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.4819490988
MESH:D000138 Acidosis Ammonium Chloride 4.4418287403
MESH:D000550 Amblyopia Valproic Acid 6.3017688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.9817497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9817157402 15238991 16609825 18985861 18177632 20603192 18316065 17507914 17688650 18558336 19232924 19460635 18940202 18396377 18775368
MESH:D001714 Bipolar Disorder Valproic Acid 3.2820046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.698888407
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8420734317
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.918888407 16575769 17688650
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.2719641884 1733752
MESH:D004421 Dystonia Valproic Acid 4.661851702
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.9217275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.983922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.1420417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 4.066426943 6254150 7562514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 5.067750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.953659116
MESH:D005234 Fatty Liver Valproic Acid 3.8514986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 5.9616575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.8118558336 8888407
MESH:D006849 Hydrocephalus Valproic Acid 5.7517688650
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2117596541 16294345
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 5.3317228818
MESH:D008881 Migraine Disorders Valproic Acid 3.5318803445 18765137
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.588888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.4017596541
MESH:D009436 Neural Tube Defects Valproic Acid 3.4216359493 8888407
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.7120603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.6112752131 11422049
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.7819155313
MESH:D012559 Schizophrenia Valproic Acid 2.1115737665 19110320
MESH:D012640 Seizures Valproic Acid 3.053137016 15475178 14763951 16876388 1511512 11738929 11044598 17978042
MESH:D016135 Spinal Dysraphism Valproic Acid 4.1719490988
MESH:D013226 Status Epilepticus Valproic Acid 5.6112833885
MESH:D014178 Translocation, Genetic Valproic Acid 6.3017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.413119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.418888407
No data
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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