AutismKB 2.0

Annotation Detail for EYA4


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Basic Information Top
Gene Symbol:EYA4 ( CMD1J,DFNA10 )
Gene Full Name: eyes absent homolog 4 (Drosophila)
Band: 6q23.2
Quick LinksEntrez ID:2070; OMIM: 603550; Uniprot ID:EYA4_HUMAN; ENSEMBL ID: ENSG00000112319; HGNC ID: 3522
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
15Phosphothreonine.
361Phosphoserine.
Location(AA) Modifications Resource
361Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
1AcetylmethionineHMM predict
22Phosphoserine(CK1)HMM predict
22Phosphoserine(ATM)HMM predict
22Phosphoserine(IKK)HMM predict
24Phosphoserine(ATM)HMM predict
37Phosphoserine(MAPK)HMM predict
47Phosphothreonine(MAPK)HMM predict
56Phosphoserine(IKK)HMM predict
57N-linkedHMM predict
59O-linkedHMM predict
59Phosphoserine(CK1)HMM predict
62O-linkedHMM predict
62Phosphoserine(IKK)HMM predict
62Phosphoserine(CK1)HMM predict
64O-linkedHMM predict
66N-linkedHMM predict
72N-linkedHMM predict
77N-linkedHMM predict
89O-linkedHMM predict
90O-linkedHMM predict
94Phosphoserine(IKK)HMM predict
104N-linkedHMM predict
105Phosphoserine(CK1)HMM predict
109O-linkedHMM predict
128O-linkedHMM predict
130Phosphotyrosine(INSR)HMM predict
131O-linkedHMM predict
159Phosphothreonine(PKC)HMM predict
169Phosphotyrosine(INSR)HMM predict
209Phosphoserine(IKK)HMM predict
209Phosphoserine(CK1)HMM predict
209Phosphoserine(ATM)HMM predict
213Phosphoserine(IKK)HMM predict
213Phosphoserine(CDC2)HMM predict
227O-linkedHMM predict
228Phosphothreonine(CDC2)HMM predict
234Phosphothreonine(MAPK)HMM predict
236Phosphotyrosine(Abl)HMM predict
250O-linkedHMM predict
252Phosphotyrosine(INSR)HMM predict
259N-linkedHMM predict
262N-linkedHMM predict
270SulfotyrosineHMM predict
281Phosphotyrosine(Syk)HMM predict
297N-linkedHMM predict
298N-linkedHMM predict
303O-linkedHMM predict
303Phosphothreonine(MAPK)HMM predict
303Phosphothreonine(CDK)HMM predict
305O-linkedHMM predict
305O-linkedHMM predict
307O-linkedHMM predict
308Phosphoserine(CK1)HMM predict
331Phosphoserine(CDC2)HMM predict
334Phosphothreonine(CDK)HMM predict
334Phosphothreonine(CDC2)HMM predict
347Phosphoserine(CDK)HMM predict
347Phosphoserine(PKA)HMM predict
349Phosphoserine(CK1)HMM predict
352MethylarginineHMM predict
354MethylarginineHMM predict
359N-linkedHMM predict
361Phosphoserine(ATM)HMM predict
438Phosphoserine(CK2)HMM predict
439Phosphoserine(CK1)HMM predict
439Phosphoserine(CK2)HMM predict
524Phosphoserine(IKK)HMM predict
540Phosphoserine(IKK)HMM predict
574Phosphotyrosine(SRC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_172103
  • Location:chr6 133604187-133894357
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 133603220 133604153 933 501
H3K27me3 colorectalcancer 133602573 133603609 1036 1097
Oct1 H2O2-HelaGSE14283 133591641 133591669 28 12533
hScc1 BcellGSE12603 133603832 133604187 355 178
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p130 QuiescentGSE19898 133908957 133909229 272 14736
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 133635661 133635851 190 0
CTCF CD4GSE12889 133875377 133875507 130 0
CTCF CD4SISSRdata 133635661 133635851 190 0
CTCF CD4SISSRdata 133875377 133875507 130 0
CTCF JurkatGSE12889 133635713 133635909 196 0
CTCF JurkatGSE12889 133875310 133875551 241 0
CTCF G2GSE9613 133604915 133605129 214 0
CTCF G2GSE9613 133731405 133731768 363 0
CTCF G2GSE9613 133875245 133875653 408 0
Fos K562GSE19551 133635570 133635895 325 0
H3K27me3 colorectalcancer 133604944 133606651 1707 0
Jun K562GSE19551 133635602 133635906 304 0
Myc K562GSE19551 133635590 133635870 280 0
Myc hESGSE17917 133635596 133635909 313 0
Nanog ESGSE20650 133635687 133635866 179 0
Nanog ESGSE20650 133819823 133820186 363 0
Nanog hESGSE18292 133794675 133795038 363 0
Oct1 H2O2-HelaGSE14283 133725222 133725251 29 0
Oct1 HelaGSE14283 133689466 133689501 35 0
Oct1 HelaGSE14283 133727959 133728022 63 0
Oct1 HelaGSE14283 133777668 133777698 30 0
Oct4 ESGSE20650 133635702 133635851 149 0
Oct4 hESGSE17917 133794913 133795313 400 0
P300 T30-glioblastomaGSE21026 133610960 133612256 1296 0
PolII HeLaGSE12783 133732644 133733173 529 0
Rb GrowingGSE19898 133626727 133626909 182 0
SRF GMOGSE8489 133682919 133683203 284 0
TAF HelaGSE8489 133605261 133607251 1990 0
VDR GM10861-stimGSE22484 133848682 133850273 1591 0
hScc1 BcellGSE12603 133875335 133875619 284 0
hScc1 CdLSGSE12603 133874865 133875794 929 0
hScc1 G2GSE9613 133731301 133731870 569 0
hScc1 G2GSE9613 133875299 133875689 390 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
391 Unknown MicroArray miR-124 EYA4 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000112319 G1-to-S transition n_a n_a muscle cell malignant tumour
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
23194 mRNA EYA4 chr6 133604205 133892353 184 mRNA chr6 133797908 133870488Sense/Antisense (SA) 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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