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
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152414
  • Location:chr8 65655367-65658738
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 65642802 65643016 214 12459
CTCF CD4SISSRdata 65642802 65643016 214 12459
CTCF G2GSE9613 65650232 65651327 1095 4588
H3K27me3 colorectalcancer 65651905 65655540 3635 1645
H3K4me3 colorectalcancer 65653878 65654443 565 1207
hScc1 BcellGSE12603 65650194 65650575 381 4983
hScc1 BcellGSE12603 65652066 65652797 731 2936
hScc1 CdLSGSE12603 65642774 65643159 385 12401
hScc1 CdLSGSE12603 65650080 65651172 1092 4742
hScc1 CdLSGSE12603 65652247 65653291 1044 2599
hScc1 G2GSE9613 65650194 65650863 669 4839
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 65655937 65656445 508 0
CTCF G2GSE9613 65656878 65657217 339 0
H3K27me3 colorectalcancer 65656841 65658070 1229 0
hScc1 BcellGSE12603 65655400 65655650 250 0
hScc1 CdLSGSE12603 65655981 65657260 1279 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
25521 mRNA BHLHB5 chr8 65655367 65658739 171 mRNA LOC401463 chr8 65649421 65656999Sense/Antisense (SA) pairs

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