AutismKB 2.0

Annotation Detail for ESF1


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Basic Information Top
Gene Symbol:ESF1 ( ABTAP,C20orf6,FLJ20368,bA526K24.1 )
Gene Full Name: ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)
Band: 20p12.1
Quick LinksEntrez ID:51575; OMIM: NA; Uniprot ID:ESF1_HUMAN; ENSEMBL ID: ENSG00000089048; HGNC ID: 15898
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
75Phosphoserine.
77Phosphoserine.
79Phosphoserine.
82Phosphoserine.
90Phosphoserine.
153Phosphoserine.
179Phosphoserine.
180Phosphoserine.
198Phosphoserine.
296Phosphoserine.
298Phosphoserine.
311Phosphothreonine.
312Phosphoserine.
313Phosphoserine.
657Phosphoserine.
663Phosphoserine.
693Phosphothreonine.
694Phosphoserine.
735Phosphoserine.
823Phosphoserine.
Location(AA) Modifications Resource
75Phosphoserine.Swiss-Prot 53.0
75PhosphoserinePhospho.ELM 6.0
77PhosphoserinePhospho.ELM 6.0
77Phosphoserine.Swiss-Prot 53.0
79PhosphoserinePhospho.ELM 6.0
79Phosphoserine.Swiss-Prot 53.0
82PhosphoserinePhospho.ELM 6.0
82Phosphoserine.Swiss-Prot 53.0
153Phosphoserine.Swiss-Prot 53.0
153PhosphoserinePhospho.ELM 6.0
296Phosphoserine.Swiss-Prot 53.0
298Phosphoserine.Swiss-Prot 53.0
311Phosphothreonine.Swiss-Prot 53.0
311PhosphothreoninePhospho.ELM 6.0
312PhosphoserinePhospho.ELM 6.0
312Phosphoserine.Swiss-Prot 53.0
313PhosphoserinePhospho.ELM 6.0
313Phosphoserine.Swiss-Prot 53.0
657PhosphoserinePhospho.ELM 6.0
657Phosphoserine.Swiss-Prot 53.0
663PhosphoserinePhospho.ELM 6.0
663Phosphoserine.Swiss-Prot 53.0
694PhosphoserinePhospho.ELM 6.0
694Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
75Phosphoserine(ATM)HMM predict
77Phosphoserine(CK2)HMM predict
79Phosphoserine(IKK)HMM predict
79Phosphoserine(CK1)HMM predict
80N-linkedHMM predict
82Phosphoserine(CK2)HMM predict
82Phosphoserine(CK1)HMM predict
90Phosphoserine(ATM)HMM predict
101Phosphothreonine(CK2)HMM predict
101Phosphothreonine(PKC)HMM predict
127N-linkedHMM predict
133N-linkedHMM predict
153Phosphoserine(CDC2)HMM predict
187Phosphothreonine(PKC)HMM predict
198Phosphoserine(CDC2)HMM predict
225Phosphotyrosine(Syk)HMM predict
225Phosphotyrosine(Jak)HMM predict
225Phosphotyrosine(INSR)HMM predict
227N-linkedHMM predict
243Phosphoserine(CK1)HMM predict
245Phosphoserine(ATM)HMM predict
245Phosphoserine(CK2)HMM predict
245Phosphoserine(CK1)HMM predict
251Phosphoserine(CK1)HMM predict
255Phosphoserine(CK2)HMM predict
255Phosphoserine(CK1)HMM predict
272Phosphoserine(CK2)HMM predict
290Phosphoserine(CK1)HMM predict
296Phosphoserine(CK1)HMM predict
311Phosphothreonine(CK2)HMM predict
313Phosphoserine(CK2)HMM predict
435Phosphotyrosine(Jak)HMM predict
450Phosphotyrosine(Syk)HMM predict
488N-linkedHMM predict
544Phosphoserine(CK2)HMM predict
614Phosphoserine(PKG)HMM predict
657Phosphoserine(CK1)HMM predict
657PhosphoserineHMM predict
719Phosphoserine(CK1)HMM predict
813Phosphoserine(CK2)HMM predict
849LysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016649
  • Location:chr20 13642969-13713531
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 13713245 13713859 614 21
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 13713231 13713831 600 0
H3K4me3 colorectalcancer 13712492 13713572 1080 0
H3ac HepG2E 13712492 13714238 1746 0
Rb SenescentGSE19898 13713252 13713773 521 0
USF1 HepG2E 13712492 13714238 1746 0
USF2 HepG2E 13712492 13714065 1573 0
hScc1 BcellGSE12603 13700423 13700756 333 0
p130 SenescentGSE19898 13664465 13664812 347 0
p63 keratinocytesGSE17611 13685249 13685792 543 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


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