AutismKB 2.0

Annotation Detail for RSPH4A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RSPH4A ( CILD11,FLJ37974,MGC126303,RSHL3,RSPH6B,dJ412I7.1 )
Gene Full Name: radial spoke head 4 homolog A (Chlamydomonas)
Band: 6q22.1
Quick LinksEntrez ID:345895; OMIM: 612647; Uniprot ID:RSH4A_HUMAN; ENSEMBL ID: ENSG00000111834; HGNC ID: 21558
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_001010892
  • Location:chr6 117044342-117060833
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 117043853 117044558 705 137
P300 T30-glioblastomaGSE21026 117043782 117044593 811 155
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 117061738 117062054 316 1063
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 117044650 117045047 397 0
Rb GrowingGSE19898 117044231 117044576 345 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
23090 mRNA RSHL3 chr6 117044342 117060834 2337 HTC chr6 117058497 117086781 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