AutismKB 2.0

Annotation Detail for ANKRD30A


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Basic Information Top
Gene Symbol:ANKRD30A ( NY-BR-1 )
Gene Full Name: ankyrin repeat domain 30A
Band: 10p11.21
Quick LinksEntrez ID:91074; OMIM: 610856; Uniprot ID:AN30A_HUMAN; ENSEMBL ID: ENSG00000148513; HGNC ID: 17234
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
118Phosphothreonine(CDK)HMM predict
118Phosphothreonine(MAPK)HMM predict
209Phosphoserine(PKG)HMM predict
301Phosphothreonine(MAPK)HMM predict
307Phosphoserine(MAPK)HMM predict
307Phosphoserine(CDC2)HMM predict
335Phosphothreonine(MAPK)HMM predict
341Phosphoserine(CDC2)HMM predict
368Phosphothreonine(CDK)HMM predict
381N-linkedHMM predict
401O-linkedHMM predict
401Phosphoserine(CDC2)HMM predict
424Phosphotyrosine(INSR)HMM predict
447Phosphotyrosine(SRC)HMM predict
447Phosphotyrosine(Syk)HMM predict
505Phosphotyrosine(Syk)HMM predict
505Phosphotyrosine(INSR)HMM predict
561Phosphoserine(PKG)HMM predict
624Phosphotyrosine(Syk)HMM predict
624Phosphotyrosine(INSR)HMM predict
680Phosphoserine(PKG)HMM predict
743Phosphotyrosine(INSR)HMM predict
743Phosphotyrosine(Syk)HMM predict
799Phosphoserine(PKG)HMM predict
904Phosphoserine(CK1)HMM predict
1043Phosphotyrosine(Jak)HMM predict
1102Phosphothreonine(PKC)HMM predict
1158Phosphothreonine(PKC)HMM predict
1162Phosphoserine(PKG)HMM predict
1188Phosphotyrosine(INSR)HMM predict
1246SulfotyrosineHMM predict
1290N-linkedHMM predict
1328IsoleucineHMM predict
1335LysineHMM predict
1336AlanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_052997
  • Location:chr10 37454790-37561500
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
RNAII Tamoxifen-MCF7GSE14664 37443407 37443496 89 11339
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 37509873 37509946 73 0
ER MCF7GSE19013 37499813 37500351 538 0
GABP HelaGSE8489 37495572 37496266 694 0
GABP HelaGSE8489 37501411 37501866 455 0
GABP HelaGSE8489 37503642 37504631 989 0
GABP HelaGSE8489 37514929 37516360 1431 0
GABP HelaGSE8489 37518653 37519977 1324 0
Oct1 HelaGSE14283 37509883 37509933 50 0
Oct1 HelaGSE14283 37515097 37515124 27 0
RARA MCF7GSE15244 37525843 37526160 317 0
RNAII Tamoxifen-MCF7GSE14664 37509876 37509954 78 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