AutismKB 2.0

Annotation Detail for ESCO1


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Basic Information Top
Gene Symbol:ESCO1 ( A930014I12Rik,CTF,ECO1,EFO1,ESO1,KIAA1911,MGC105022 )
Gene Full Name: establishment of cohesion 1 homolog 1 (S. cerevisiae)
Band: 18q11.2
Quick LinksEntrez ID:114799; OMIM: 609674; Uniprot ID:ESCO1_HUMAN; ENSEMBL ID: ENSG00000141446; HGNC ID: 24645
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
31Phosphoserine.
200Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
11N-linkedHMM predict
24Phosphoserine(CK1)HMM predict
24Phosphoserine(CK2)HMM predict
51Phosphoserine(IKK)HMM predict
53Phosphoserine(CK1)HMM predict
55Phosphoserine(CK1)HMM predict
71Phosphoserine(PKC)HMM predict
103Phosphoserine(PKA)HMM predict
151Phosphoserine(IKK)HMM predict
167Phosphoserine(IKK)HMM predict
168N-linkedHMM predict
186Phosphoserine(CK1)HMM predict
200Phosphoserine(CDC2)HMM predict
218Phosphoserine(IKK)HMM predict
265Phosphoserine(PKG)HMM predict
272O-linkedHMM predict
273N-linkedHMM predict
279Phosphoserine(CDK)HMM predict
279Phosphoserine(CDC2)HMM predict
330Phosphoserine(ATM)HMM predict
345Phosphoserine(CK1)HMM predict
382N-linkedHMM predict
383Phosphoserine(CDC2)HMM predict
388N-linkedHMM predict
390N-linkedHMM predict
423Phosphoserine(CDC2)HMM predict
447N-linkedHMM predict
473N-linkedHMM predict
511N-linkedHMM predict
527N-linkedHMM predict
556Phosphoserine(IKK)HMM predict
560N-linkedHMM predict
571Phosphothreonine(CDC2)HMM predict
574N-linkedHMM predict
576Phosphoserine(IKK)HMM predict
802Phosphoserine(CK2)HMM predict
809Phosphoserine(ATM)HMM predict
812Phosphothreonine(CDC2)HMM predict
825ThreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_052911
  • Location:chr18 17363259-17434690
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 17434684 17435154 470 229
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 17359575 17359602 27 3671
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 17433780 17435194 1414 0
H3K4me3 colorectalcancer 17432676 17432980 304 0
H3K4me3 colorectalcancer 17433322 17434207 885 0
H3ac HepG2E 17432676 17432980 304 0
H3ac HepG2E 17433322 17434090 768 0
Myc K562GSE19551 17391891 17392213 322 0
Oct1 H2O2-HelaGSE14283 17384375 17384402 27 0
Oct1 HelaGSE14283 17384374 17384434 60 0
PHF8 293TGSE20725 17433590 17435238 1648 0
PHF8 HeLaGSE20725 17433859 17435063 1204 0
RNAII Tamoxifen-MCF7GSE14664 17384383 17384434 51 0
USF1 HepG2E 17384257 17384746 489 0
USF2 HepG2E 17383948 17384746 798 0
hScc1 BcellGSE12603 17433765 17434284 519 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