AutismKB 2.0

Annotation Detail for EPS8L3


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Basic Information Top
Gene Symbol:EPS8L3 ( EPS8R3,FLJ21522,MGC16817 )
Gene Full Name: EPS8-like 3
Band: 1p13.3
Quick LinksEntrez ID:79574; OMIM: NA; Uniprot ID:ES8L3_HUMAN; ENSEMBL ID: ENSG00000198758; HGNC ID: 21297
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
19N-linkedHMM predict
183Phosphotyrosine(Syk)HMM predict
197Phosphothreonine(PKA)HMM predict
205Phosphoserine(MAPK)HMM predict
205Phosphoserine(CDC2)HMM predict
205Phosphoserine(CDK)HMM predict
214Phosphoserine(PKB)HMM predict
229Phosphoserine(PKG)HMM predict
230Phosphoserine(PKG)HMM predict
230Phosphoserine(CK1)HMM predict
230Phosphoserine(PKC)HMM predict
230Phosphoserine(PKB)HMM predict
230PhosphoserineHMM predict
230Phosphoserine(IKK)HMM predict
231Phosphoserine(ATM)HMM predict
231Phosphoserine(IKK)HMM predict
231Phosphoserine(PKB)HMM predict
231O-linkedHMM predict
231Phosphoserine(CDC2)HMM predict
263Phosphothreonine(PKC)HMM predict
343Phosphothreonine(MAPK)HMM predict
355Phosphoserine(MAPK)HMM predict
355Phosphoserine(CDC2)HMM predict
355Phosphoserine(ATM)HMM predict
355Phosphoserine(IKK)HMM predict
355Phosphoserine(CK1)HMM predict
389Phosphoserine(CK1)HMM predict
415Phosphoserine(PKA)HMM predict
445O-linkedHMM predict
445Phosphoserine(CDC2)HMM predict
498Phosphotyrosine(INSR)HMM predict
514O-linkedHMM predict
518Phosphoserine(MAPK)HMM predict
518Phosphoserine(CDC2)HMM predict
542N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024526
  • Location:chr1 110094224-110108086
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 110117826 110118114 288 9884
CTCF CD4GSE12889 110120996 110121302 306 13063
CTCF CD4SISSRdata 110117826 110118114 288 9884
CTCF CD4SISSRdata 110120996 110121302 306 13063
CTCF HelaGSE12889 110120968 110121270 302 13033
CTCF JurkatGSE12889 110120986 110121374 388 13094
CTCF G2GSE9613 110116894 110117559 665 9140
CTCF G2GSE9613 110117875 110118395 520 10049
CTCF G2GSE9613 110120858 110121286 428 12986
Myc K562GSE19551 110117671 110118234 563 9866
P300 T30-glioblastomaGSE21026 110127424 110128172 748 19712
RARA MCF7GSE15244 110120639 110121185 546 12826
RARA MCF7GSE15244 110126864 110128795 1931 19743
Rb shRbQuiescentGSE19898 110109178 110109373 195 1189
hScc1 BcellGSE12603 110116857 110117043 186 8864
hScc1 BcellGSE12603 110117875 110118656 781 10179
hScc1 BcellGSE12603 110120675 110121567 892 13035
hScc1 CdLSGSE12603 110117875 110118395 520 10049
hScc1 CdLSGSE12603 110120821 110121629 808 13139
hScc1 G2GSE9613 110117875 110118360 485 10031
hScc1 G2GSE9613 110120821 110121903 1082 13276
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 110106622 110107675 1053 0
CTCF G2GSE9613 110104778 110105109 331 0
H3ac HepG2E 110106757 110107402 645 0
P300 T30-glioblastomaGSE21026 110106836 110107722 886 0
hScc1 BcellGSE12603 110104814 110105144 330 0
hScc1 BcellGSE12603 110107766 110108038 272 0
p130 SenescentGSE19898 110099804 110099978 174 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
1256 EST chr1 109966930 110030092 13863 mRNA EPS8L3 chr1 110004743 110018606 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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