AutismKB 2.0

Annotation Detail for ASPHD1


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Basic Information Top
Gene Symbol:ASPHD1 ( - )
Gene Full Name: aspartate beta-hydroxylase domain containing 1
Band: 16p11.2
Quick LinksEntrez ID:253982; OMIM: NA; Uniprot ID:ASPH1_HUMAN; ENSEMBL ID: ENSG00000174939; HGNC ID: 27380
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
129Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
6Phosphoserine(CDC2)HMM predict
10Phosphoserine(ATM)HMM predict
76Phosphoserine(CAMK2)HMM predict
76Phosphoserine(PKA)HMM predict
105O-linkedHMM predict
105Phosphoserine(CDC2)HMM predict
134Phosphoserine(IKK)HMM predict
134Phosphoserine(CAMK2)HMM predict
208O-linkedHMM predict
330N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_181718
  • Location:chr16 29819647-29824875
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 HeLaGSE20725 29818825 29820897 2072 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
9812 mRNA LOC253982 chr16 29819647 29838684 103 EST chr16 29838322 29842142Sense/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