AutismKB 2.0

Annotation Detail for RHBDF1


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Basic Information Top
Gene Symbol:RHBDF1 ( C16orf8,Dist1,EGFR-RS,FLJ2235,FLJ22357,gene-89,gene-90,hDist1 )
Gene Full Name: rhomboid 5 homolog 1 (Drosophila)
Band: 16p13.3
Quick LinksEntrez ID:64285; OMIM: NA; Uniprot ID:RHDF1_HUMAN; ENSEMBL ID: ENSG00000007384; HGNC ID: 20561
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
8Phosphoserine (By similarity).
583N-linked (GlcNAc...).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022450
  • Location:chr16 48058-62590
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 62533 62994 461 173
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 55735 55976 241 0
CTCF CD4SISSRdata 55735 55976 241 0
CTCF G2GSE9613 53452 53702 250 0
CTCF G2GSE9613 54001 54390 389 0
CTCF G2GSE9613 55549 56222 673 0
CTCF G2GSE9613 57991 58241 250 0
CTCF G2GSE9613 60194 60577 383 0
CTCF G2GSE9613 62089 62719 630 0
Rb GrowingGSE19898 61499 61680 181 0
Rb SenescentGSE19898 61620 61808 188 0
Rb shRbQuiescentGSE19898 60340 60535 195 0
STAT1 IFNSISSRdata 55559 56087 528 0
TFAP2C MCF7GSE21234 55421 56107 686 0
hScc1 BcellGSE12603 55514 56270 756 0
hScc1 BcellGSE12603 62146 62719 573 0
hScc1 CdLSGSE12603 55442 56297 855 0
p130 shRbSenescentGSE19898 61500 62105 605 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