AutismKB 2.0

Annotation Detail for CRELD2


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Basic Information Top
Gene Symbol:CRELD2 ( DKFZp667O055,MGC11256 )
Gene Full Name: cysteine-rich with EGF-like domains 2
Band: 22q13.33
Quick LinksEntrez ID:79174; OMIM: 607171; Uniprot ID:CREL2_HUMAN; ENSEMBL ID: ENSG00000184164; HGNC ID: 28150
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
251N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
251N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
29Phosphothreonine(MAPK)HMM predict
29Phosphothreonine(PKA)HMM predict
31S-palmitoylHMM predict
66Phosphoserine(CK1)HMM predict
149Phosphoserine(ATM)HMM predict
190N-linkedHMM predict
194Phosphoserine(PKA)HMM predict
251N-linkedHMM predict
254Phosphotyrosine(INSR)HMM predict
345O-linkedHMM predict
345O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024324
  • Location:chr22 48698347-48707177
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 293TGSE20725 48697722 48698895 1173 39
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 48709679 48710266 587 2795
NFkBII GM10847GSE19485 48714461 48715405 944 7756
NFkBII GM10847GSE19485 48715475 48716637 1162 8879
NFkBII GM12892GSE19485 48715569 48716601 1032 8908
NFkBII GM15510GSE19485 48715474 48716432 958 8776
Rb QuiescentGSE19898 48715004 48715133 129 7891
hScc1 CdLSGSE12603 48709048 48709675 627 2184
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 48699412 48699985 573 0
NFkBII GM18526GSE19485 48704631 48706362 1731 0
hScc1 BcellGSE12603 48701026 48701411 385 0
hScc1 BcellGSE12603 48702719 48703381 662 0
hScc1 CdLSGSE12603 48702719 48703417 698 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


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