AutismKB 2.0

Annotation Detail for EYA1


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Basic Information Top
Gene Symbol:EYA1 ( BOP,BOR,MGC141875 )
Gene Full Name: eyes absent homolog 1 (Drosophila)
Band: 8q13.3
Quick LinksEntrez ID:2138; OMIM: 601653; Uniprot ID:EYA1_HUMAN; ENSEMBL ID: ENSG00000104313; HGNC ID: 3519
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
8Phosphoserine(MAPK)HMM predict
14Phosphoserine(CK1)HMM predict
14Phosphoserine(CK2)HMM predict
17O-linkedHMM predict
19Phosphoserine(IKK)HMM predict
19Phosphoserine(ATM)HMM predict
19Phosphoserine(CDC2)HMM predict
36Phosphothreonine(CDK)HMM predict
36PhosphothreonineHMM predict
36Phosphothreonine(CDC2)HMM predict
38N-linkedHMM predict
48Phosphoserine(IKK)HMM predict
49Phosphoserine(CK1)HMM predict
50Phosphoserine(CK2)HMM predict
50O-linkedHMM predict
50O-linkedHMM predict
56O-linkedHMM predict
63N-linkedHMM predict
75Phosphoserine(ATM)HMM predict
75Phosphoserine(CDC2)HMM predict
75O-linkedHMM predict
83Phosphoserine(CAMK2)HMM predict
90O-linkedHMM predict
105PhosphothreonineHMM predict
153Phosphoserine(ATM)HMM predict
155Phosphoserine(ATM)HMM predict
157Phosphoserine(CDC2)HMM predict
157Phosphoserine(IKK)HMM predict
171O-linkedHMM predict
172Phosphothreonine(CDC2)HMM predict
188Phosphoserine(IKK)HMM predict
191O-linkedHMM predict
196Phosphotyrosine(INSR)HMM predict
199N-linkedHMM predict
200N-linkedHMM predict
204N-linkedHMM predict
209N-linkedHMM predict
211Phosphoserine(ATM)HMM predict
215Phosphotyrosine(Syk)HMM predict
215SulfotyrosineHMM predict
231N-linkedHMM predict
233Phosphoserine(CDC2)HMM predict
242O-linkedHMM predict
244N-linkedHMM predict
245O-linkedHMM predict
246Phosphoserine(CDK)HMM predict
246Phosphoserine(CDC2)HMM predict
246O-linkedHMM predict
246Phosphoserine(IKK)HMM predict
246PhosphoserineHMM predict
246O-linkedHMM predict
249O-linkedHMM predict
249Phosphothreonine(CDK)HMM predict
249O-linkedHMM predict
251O-linkedHMM predict
252O-linkedHMM predict
253N-linkedHMM predict
267Phosphoserine(ATM)HMM predict
282Phosphoserine(CDC2)HMM predict
282Phosphoserine(CDK)HMM predict
285Phosphothreonine(CDC2)HMM predict
285Phosphothreonine(CDK)HMM predict
299Phosphoserine(CAMK2)HMM predict
306MethylarginineHMM predict
312N-linkedHMM predict
391Phosphoserine(CK2)HMM predict
392Phosphoserine(CK2)HMM predict
392Phosphoserine(CK1)HMM predict
527Phosphotyrosine(SRC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000503
  • Location:chr8 72272223-72437020
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 72455514 72455548 34 18511
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 72436448 72436837 389 0
hScc1 BcellGSE12603 72436486 72436907 421 0
hScc1 CdLSGSE12603 72436414 72436837 423 0
hScc1 G2GSE9613 72436304 72436875 571 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-562 hsa-mir-562 2 19789318
hsa-miR-562 hsa-mir-562 2 19789318
No data
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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