AutismKB 2.0

Annotation Detail for EYA2


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Basic Information Top
Gene Symbol:EYA2 ( EAB1,MGC10614 )
Gene Full Name: eyes absent homolog 2 (Drosophila)
Band: 20q13.12
Quick LinksEntrez ID:2139; OMIM: 601654; Uniprot ID:EYA2_HUMAN; ENSEMBL ID: ENSG00000064655; HGNC ID: 3520
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
257Phosphoserine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
7Phosphoserine(CDK)HMM predict
82O-linkedHMM predict
85O-linkedHMM predict
94Phosphotyrosine(Abl)HMM predict
108N-linkedHMM predict
110Phosphoserine(CDC2)HMM predict
110Phosphoserine(ATM)HMM predict
121O-linkedHMM predict
124O-linkedHMM predict
124O-linkedHMM predict
125O-linkedHMM predict
126Phosphoserine(IKK)HMM predict
126Phosphoserine(CDC2)HMM predict
172Phosphoserine(ATM)HMM predict
182Phosphotyrosine(INSR)HMM predict
190O-linkedHMM predict
195Phosphoserine(CDC2)HMM predict
213N-linkedHMM predict
231Phosphothreonine(MAPK)HMM predict
231Phosphothreonine(CDC2)HMM predict
257Phosphoserine(CK1)HMM predict
260Phosphoserine(IKK)HMM predict
338Phosphoserine(CK2)HMM predict
338Phosphoserine(CK1)HMM predict
349N-linkedHMM predict
404Phosphothreonine(CDK)HMM predict
404Phosphothreonine(CDC2)HMM predict
473Phosphotyrosine(SRC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005244
  • Location:chr20 44956915-45250896
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p130 G0GSE7516 44954633 44954982 349 2108
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 45033119 45033898 779 0
FOXA1 MCF7GSE15244 45026899 45028408 1509 0
FOXA1 eGFPGSE10845 45026899 45028408 1509 0
Fos K562GSE19551 45000967 45001444 477 0
Nanog ESGSE20650 44981783 44982155 372 0
Nanog hESGSE18292 44985725 44986120 395 0
Nanog hESGSE18292 45033372 45033645 273 0
TFAP2C MCF7GSE21234 45024879 45026082 1203 0
hScc1 BcellGSE12603 44956775 44957225 450 0
hScc1 BcellGSE12603 44994067 44994360 293 0
hScc1 BcellGSE12603 44995953 44996140 187 0
hScc1 BcellGSE12603 45022873 45023066 193 0
p130 QuiescentGSE19898 45033372 45033635 263 0
p130 SenescentGSE19898 45033260 45033666 406 0
p130 shRbQuiescentGSE19898 45021246 45021834 588 0
p63 keratinocytesGSE17611 44963495 44964329 834 0
p63 keratinocytesGSE17611 45036384 45037404 1020 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
16465 mRNA EYA2 chr20 44956915 45250897 946 EST chr20 44962848 44963794 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


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