AutismKB 2.0

Annotation Detail for AQP4


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Basic Information Top
Gene Symbol:AQP4 ( HMIWC2,MGC22454,MIWC )
Gene Full Name: aquaporin 4
Band: 18q11.2
Quick LinksEntrez ID:361; OMIM: 600308; Uniprot ID:AQP4_HUMAN; ENSEMBL ID: ENSG00000171885; HGNC ID: 637
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
99NPA 1.
111Phosphoserine; by PKG (By similarity).
153N-linked (GlcNAc...) (Potential).
180Phosphoserine; by PKC (By similarity).
206N-linked (GlcNAc...) (Potential).
215NPA 2.
285Phosphoserine (By similarity).
321Phosphoserine (By similarity).
Location(AA) Modifications Resource
153N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
206N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
276Phosphoserine (CK2
285Phosphoserine (By similarity).Swiss-Prot 53.0
285Phosphoserine (CK2
316Phosphoserine (CK2
321Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
111Phosphoserine(PKG)HMM predict
111Phosphoserine(CAMK2)HMM predict
153N-linkedHMM predict
206N-linkedHMM predict
273Phosphothreonine(PKC)HMM predict
277Phosphotyrosine(INSR)HMM predict
283N-linkedHMM predict
285Phosphoserine(ATM)HMM predict
285Phosphoserine(IKK)HMM predict
285Phosphoserine(CK1)HMM predict
289Phosphothreonine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001650
  • Location:chr18 22686004-22699713
  • 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 22697228 22697567 339 0
VDR GM10861-stimGSE22484 22698254 22699316 1062 0
hScc1 BcellGSE12603 22697228 22697490 262 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-320a hsa-mir-320a 8 20628061
No data
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