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
Post Translation Modification Top
Location(AA) Modification
1123Phosphoserine.
1737Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_019024
  • Location:chr2 37061656-37164988
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 293TGSE20725 37164374 37165629 1255 13
hScc1 BcellGSE12603 37164822 37165247 425 46
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 37059314 37059344 30 2328
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 37085749 37085989 240 0
CTCF CD4SISSRdata 37085749 37085989 240 0
CTCF G2GSE9613 37085706 37086066 360 0
FOXA1 MCF7GSE15244 37164430 37165477 1047 0
GABP k562GSE8489 37146272 37146514 242 0
H3K4me3 colorectalcancer 37163541 37164430 889 0
H3ac HepG2E 37163541 37165875 2334 0
Oct1 HelaGSE14283 37150974 37151008 34 0
Oct4 hESGSE17917 37085726 37086002 276 0
SRF HelaGSE8489 37163541 37164392 851 0
TFAP2C MCF7GSE21234 37163094 37163400 306 0
hScc1 CdLSGSE12603 37085570 37086066 496 0
p63 keratinocytesGSE17611 37132970 37134101 1131 0
Validated miRNA targets Top
Cis-Nats regulation 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