AutismKB 2.0

Annotation Detail for CRELD1


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Basic Information Top
Gene Symbol:CRELD1 ( AVSD2,CIRRIN,DKFZp566D213 )
Gene Full Name: cysteine-rich with EGF-like domains 1
Band: 3p25.3
Quick LinksEntrez ID:78987; OMIM: 607170; Uniprot ID:CREL1_HUMAN; ENSEMBL ID: ENSG00000163703; HGNC ID: 14630
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
79N-linked (GlcNAc...) (Potential).
205N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
79N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
205N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
32O-linkedHMM predict
32Phosphoserine(CDC2)HMM predict
38O-linkedHMM predict
79N-linkedHMM predict
81Phosphoserine(CK1)HMM predict
142S-palmitoylHMM predict
143S-palmitoylHMM predict
205N-linkedHMM predict
218S-palmitoylHMM predict
359Phosphothreonine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001031717
  • Location:chr3 9950505-9962087
  • 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 9957487 9957743 256 0
CTCF G2GSE9613 9960922 9961497 575 0
Fos K562GSE19551 9950199 9951094 895 0
H3ac HepG2E 9950605 9952772 2167 0
TFAP2C MCF7GSE21234 9949968 9951379 1411 0
TFAP2C MCF7GSE21234 9959830 9960326 496 0
hScc1 BcellGSE12603 9960332 9960512 180 0
hScc1 BcellGSE12603 9961167 9961529 362 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