AutismKB 2.0

Annotation Detail for HEATR7B2


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Basic Information Top
Gene Symbol:HEATR7B2 ( DKFZp781F0822,FLJ40243 )
Gene Full Name: HEAT repeat family member 7B2
Band: 5p13.1
Quick LinksEntrez ID:133558; OMIM: NA; Uniprot ID:HTRB2_HUMAN; ENSEMBL ID: ENSG00000171495; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1171Phosphoserine (By similarity).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_173489
  • Location:chr5 41033880-41107161
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 41044461 41044710 249 0
Nanog hESGSE18292 41093779 41094025 246 0
Nanog hESGSE18292 41100131 41100471 340 0
TAF HelaGSE8489 41033682 41034889 1207 0
TFAP2C MCF7GSE21234 41045019 41045523 504 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
20892 EST chr5 41000628 41051870 17990 mRNA FLJ40243 chr5 41033880 41107162 Non-exonic Bidirectional (NOB) 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