AutismKB 2.0

Annotation Detail for ASPHD2


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Basic Information Top
Gene Symbol:ASPHD2 ( FLJ39838 )
Gene Full Name: aspartate beta-hydroxylase domain containing 2
Band: 22q12.1
Quick LinksEntrez ID:57168; OMIM: NA; Uniprot ID:ASPH2_HUMAN; ENSEMBL ID: ENSG00000128203; HGNC ID: 30437
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
211N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
211N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
19Phosphothreonine(CDK)HMM predict
24Phosphoserine(CDC2)HMM predict
28Phosphoserine(CK1)HMM predict
105Phosphotyrosine(Jak)HMM predict
138Phosphoserine(CAMK2)HMM predict
138Phosphoserine(IKK)HMM predict
211N-linkedHMM predict
221N-linkedHMM predict
281O-linkedHMM predict
369ArginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020437
  • Location:chr22 25155301-25169570
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 25142752 25143518 766 12167
P300 T30-glioblastomaGSE21026 25142478 25143524 1046 12301
hScc1 BcellGSE12603 25154685 25155531 846 194
hScc1 CdLSGSE12603 25154548 25155531 983 262
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 25155096 25155531 435 0
FoxA1 MCF7MACSdata 25163011 25163188 177 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
17282 mRNA LOC57168 chr22 25154682 25165535 775 mRNA chr22 25164760 25167375Sense/Antisense (SA) 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


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