AutismKB 2.0

Annotation Detail for ESCO2


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Basic Information Top
Gene Symbol:ESCO2 ( 2410004I17Rik,EFO2,RBS )
Gene Full Name: establishment of cohesion 1 homolog 2 (S. cerevisiae)
Band: 8p21.1
Quick LinksEntrez ID:157570; OMIM: 609353; Uniprot ID:ESCO2_HUMAN; ENSEMBL ID: ENSG00000171320; HGNC ID: 27230
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
29Phosphoserine.
75Phosphoserine.
244Phosphoserine.
312Phosphoserine.
512Phosphoserine.
Location(AA) Modifications Resource
29Phosphoserine.Swiss-Prot 53.0
29PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
5Phosphothreonine(MAPK)HMM predict
29Phosphoserine(CDC2)HMM predict
29Phosphoserine(CDK)HMM predict
50Phosphoserine(ATM)HMM predict
83Phosphothreonine(PKC)HMM predict
145O-linkedHMM predict
187N-linkedHMM predict
188N-linkedHMM predict
190N-linkedHMM predict
223Phosphoserine(PKG)HMM predict
229Phosphoserine(CK1)HMM predict
295Phosphoserine(CK1)HMM predict
296Phosphoserine(CK1)HMM predict
308Phosphoserine(CK1)HMM predict
312Phosphoserine(CK1)HMM predict
312Phosphoserine(IKK)HMM predict
316N-linkedHMM predict
320Phosphoserine(CDC2)HMM predict
368Phosphoserine(CAMK2)HMM predict
371Phosphothreonine(CK2)HMM predict
512Phosphoserine(IKK)HMM predict
514Phosphoserine(IKK)HMM predict
514O-linkedHMM predict
515O-linkedHMM predict
568Phosphoserine(CK2)HMM predict
575Phosphoserine(ATM)HMM predict
578Phosphothreonine(CDC2)HMM predict
590AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001017420
  • Location:chr8 27687976-27718340
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 27687716 27688196 480 21
Fos K562GSE19551 27687453 27688303 850 99
PHF8 293TGSE20725 27687535 27688389 854 15
Rb QuiescentGSE19898 27687692 27688185 493 38
Rb SenescentGSE19898 27687563 27688183 620 104
Rb shRbSenescenceGSE19898 27687682 27688243 561 14
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 27718777 27718806 29 451
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
E2F4 G0GSE7516 27687536 27688765 1229 0
H3ac HepG2E 27688196 27689148 952 0
LIN54 G0GSE7516 27687716 27688472 756 0
LIN9 G0GSE7516 27687536 27689228 1692 0
LIN9 SGSE7516 27687308 27688985 1677 0
PHF8 HeLaGSE20725 27687833 27688323 490 0
PolII HeLaGSE12783 27687499 27689090 1591 0
p130 QuiescentGSE19898 27687666 27688548 882 0
p130 SenescentGSE19898 27687588 27688788 1200 0
p130 shRbQuiescentGSE19898 27687630 27688681 1051 0
p130 shRbSenescentGSE19898 27687575 27689052 1477 0
p130 G0GSE7516 27687536 27688836 1300 0
p130 SGSE7516 27687536 27688765 1229 0
Validated miRNA targets Top
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
25220 HTC ESCO2 chr8 27687991 27726060 3002 mRNA PBK chr8 27723058 27751268 Non-exonic Bidirectional (NOB) 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