AutismKB 2.0

Annotation Detail for HEATR5B


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Basic Information Top
Gene Symbol:HEATR5B ( KIAA1414 )
Gene Full Name: HEAT repeat containing 5B
Band: 2p22.2
Quick LinksEntrez ID:54497; OMIM: NA; Uniprot ID:HTR5B_HUMAN; ENSEMBL ID: ENSG00000008869; HGNC ID: 29273
Relate to Another Database: SFARIGene; denovo-db
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Chemical ID Chemical Name Interaction Interaction Action Publication
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of HEATR5B mRNAdecreases expression 19150397
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in decreased expression of HEATR5B mRNAaffects cotreatment|decreases expression 17183730
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in decreased expression of HEATR5B mRNAaffects cotreatment|decreases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.238875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.4119490988
MESH:D000550 Amblyopia Valproic Acid 6.1017688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.9417497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9818177632 18316065 17688650 17507914 16609825 20603192 18775368 18985861 18940202 18558336 17157402 15238991 19232924 18396377 19460635
MESH:D001714 Bipolar Disorder Valproic Acid 3.2620046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.668888407
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 3.0120889678
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8320734317
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9116575769 8888407 17688650
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.2619641884 1733752
MESH:D004421 Dystonia Valproic Acid 4.581851702
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.8117275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.783922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.1220417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 4.007562514 6426943 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.957750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.813659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1520426865
MESH:D005234 Fatty Liver Valproic Acid 3.7819224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.7516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.718888407 18558336
MESH:D006849 Hydrocephalus Valproic Acid 5.6117688650
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 5.2816612254
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2016294345 17596541
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 5.1317228818
MESH:D008881 Migraine Disorders Valproic Acid 3.5018803445 18765137
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.518888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3717596541
MESH:D009436 Neural Tube Defects Valproic Acid 3.3916359493 8888407
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.5720603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.4112752131 11422049
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.7019155313
MESH:D012559 Schizophrenia Valproic Acid 2.1115737665 19110320
MESH:D012640 Seizures Valproic Acid 3.0215475178 11044598 17978042 14763951 16876388 3137016 11738929 1511512
MESH:D016135 Spinal Dysraphism Valproic Acid 4.1319490988
MESH:D013226 Status Epilepticus Valproic Acid 5.4112833885
MESH:D014178 Translocation, Genetic Valproic Acid 6.1017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.263119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.308888407
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