AutismKB 2.0

Annotation Detail for ANKRD54


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Basic Information Top
Gene Symbol:ANKRD54 ( LIAR )
Gene Full Name: ankyrin repeat domain 54
Band: 22q13.1
Quick LinksEntrez ID:129138; OMIM: 613383; Uniprot ID:ANR54_HUMAN; ENSEMBL ID: ENSG00000100124; HGNC ID: 25185
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
63Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
14Phosphoserine(CK2)HMM predict
58O-linkedHMM predict
58Phosphoserine(PKG)HMM predict
178Phosphothreonine(MAPK)HMM predict
211Phosphothreonine(MAPK)HMM predict
211Phosphothreonine(CDK)HMM predict
273Phosphothreonine(CK2)HMM predict
289Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_138797
  • Location:chr22 36556808-36570248
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 36569621 36570923 1302 24
Fos K562GSE19551 36570061 36570718 657 141
H3ac HepG2E 36570833 36571334 501 835
Nanog hESGSE18292 36570333 36570569 236 203
Rb SenescentGSE19898 36570076 36570628 552 104
Rb shRbSenescenceGSE19898 36570155 36570460 305 59
p130 QuiescentGSE19898 36570284 36570510 226 149
p130 SenescentGSE19898 36570182 36570633 451 159
p130 shRbQuiescentGSE19898 36570211 36570565 354 140
p130 shRbSenescentGSE19898 36570260 36570656 396 210
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me2 HCT116GSE10453 36568410 36568795 385 0
H3ac HepG2E 36568410 36568795 385 0
PHF8 293TGSE20725 36569508 36570703 1195 0
PHF8 HeLaGSE20725 36569586 36570799 1213 0
hScc1 BcellGSE12603 36569897 36570431 534 0
p130 QuiescentGSE19898 36568354 36568515 161 0
p130 shRbSenescentGSE19898 36569423 36569717 294 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