AutismKB 2.0

Annotation Detail for RHBDL1


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Basic Information Top
Gene Symbol:RHBDL1 ( RHBDL,RRP )
Gene Full Name: rhomboid, veinlet-like 1 (Drosophila)
Band: 16p13.3
Quick LinksEntrez ID:9028; OMIM: 603264; Uniprot ID:RHBL1_HUMAN; ENSEMBL ID: ENSG00000103269; HGNC ID: 10007
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
9Phosphothreonine(CK2)HMM predict
54O-linkedHMM predict
54Phosphoserine(IKK)HMM predict
68Phosphothreonine(PKA)HMM predict
193Phosphoserine(PKA)HMM predict
193Phosphoserine(PKB)HMM predict
300Phosphoserine(IKK)HMM predict
368Phosphoserine(IKK)HMM predict
438ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003961
  • Location:chr16 666075-668267
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 665262 665787 525 551
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 666123 666381 258 0
TFAP2C MCF7GSE21234 666923 667399 476 0
p63 keratinocytesGSE17611 666348 667670 1322 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