AutismKB 2.0

Annotation Detail for BHLHE22


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BHLHE22 ( BHLHB5,Beta3,CAGL85,TNRC20 )
Gene Full Name: basic helix-loop-helix family, member e22
Band: 8q12.3
Quick LinksEntrez ID:27319; OMIM: 613483; Uniprot ID:BHE22_HUMAN; ENSEMBL ID: ENSG00000180828; HGNC ID: 11963
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2150Duane retraction syndrome
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of BHLHE22 mRNAincreases expression 17484886
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.6918705752 3786805 16227642 16192424 15673190 16097048 15721981 16124888 15700767 16011737 16050911 10355542
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 1.8718788625
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 2.154309450 15998439 10915739 19085960 17522070 7440962 16227642 6623471 9327722 3786805 21278145 16177239 15027814 19336974 6884620 7120509 2869522 3732212 10092053 11566570 7179309 15968718
MESH:D005234 Fatty Liver Carbon Tetrachloride 3.7912795759 16239168 61145 17595544 19224547 16045604 12631006 15959796
MESH:D005355 Fibrosis Carbon Tetrachloride 4.3618705752
MESH:D006505 Hepatitis Carbon Tetrachloride 4.3819900420 19110552
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 5.6216899240
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.9915338365
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 3.0611408273 17157831 16943688 17334410 11903743 17174718 21278145 16239168 16221502
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 1.7612666154 17525996 14620537 18279442 18317297 12445421 16638106 10355542 16011737 17714472 17823541 15730626 18006644 16027843 18277467 18251166 15959796 15876570 15931870 12898905 17698563 14512876 18472094 17557913 16116963 18412020 17976157 18429990 17565644 18418968 16136751 18205269 17481882 18054572 18263696 16248980 15370692 15818738 12649538 18376398 15925388 17640975 18472332 12667390 12389079 16015684 15052691 18210741 17869086 12632514 14748882 17805973 17922224 18156304 15362042 13678700 18187930 17721639 18339082 14716496 12586293 15338365 11481614 12546737 18420326 12445418 12741479 18395914 20821823 17761835 15996030 17708605 12958196 15673190 18395095 17900296 12609069 17944888 15650968 15893842 18705752 15057751 16033810 14724832 18481824 18166357 17631135 12632512 16192424 14716833 15123356 17766677 16097048
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1716246199 17285989 15720792 15830285 16964402
MESH:D017093 Liver Failure Carbon Tetrachloride 5.0715123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 4.2614706259 16899240
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 2.3719294768
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 2.9112014681 15583823
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