AutismKB 2.0

Annotation Detail for ANKRD52


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Basic Information Top
Gene Symbol:ANKRD52 ( ANKRD33,FLJ34236 )
Gene Full Name: ankyrin repeat domain 52
Band: 12q13.3
Quick LinksEntrez ID:283373; OMIM: NA; Uniprot ID:ANR52_HUMAN; ENSEMBL ID: ENSG00000139645; HGNC ID: 26614
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1028Phosphoserine.
Location(AA) Modifications Resource
1028Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
26Phosphoserine(CK1)HMM predict
29Phosphoserine(ATM)HMM predict
43Phosphothreonine(CDK)HMM predict
43Phosphothreonine(MAPK)HMM predict
76Phosphothreonine(MAPK)HMM predict
109Phosphothreonine(MAPK)HMM predict
274Phosphothreonine(MAPK)HMM predict
301Phosphotyrosine(Syk)HMM predict
308Phosphoserine(CDC2)HMM predict
328N-linkedHMM predict
341Phosphothreonine(MAPK)HMM predict
399Phosphoserine(IKK)HMM predict
405Phosphoserine(CK1)HMM predict
458Phosphothreonine(MAPK)HMM predict
474O-linkedHMM predict
501Phosphothreonine(PKC)HMM predict
502Phosphotyrosine(EGFR)HMM predict
509Phosphothreonine(CDC2)HMM predict
509Phosphothreonine(MAPK)HMM predict
551Phosphotyrosine(Syk)HMM predict
603Phosphothreonine(PKC)HMM predict
654Phosphothreonine(PKA)HMM predict
690Phosphothreonine(MAPK)HMM predict
756Phosphothreonine(PKA)HMM predict
792Phosphotyrosine(Syk)HMM predict
792Phosphotyrosine(INSR)HMM predict
860Phosphothreonine(CDK)HMM predict
860Phosphothreonine(MAPK)HMM predict
885N-linkedHMM predict
955N-linkedHMM predict
958N-linkedHMM predict
1075SerineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
No data
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
6132 mRNA SLC39A5 chr12 54910893 54917894 40 mRNA FLJ34236 chr12 54917854 54925547Sense/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