AutismKB 2.0

Annotation Detail for EPS8L2


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Basic Information Top
Gene Symbol:EPS8L2 ( EPS8R2,FLJ16738,FLJ21935,FLJ22171,MGC126530,MGC3088 )
Gene Full Name: EPS8-like 2
Band: 11p15.5
Quick LinksEntrez ID:64787; OMIM: NA; Uniprot ID:ES8L2_HUMAN; ENSEMBL ID: ENSG00000177106; HGNC ID: 21296
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
8Phosphoserine.
21Phosphoserine.
217Phosphoserine.
240Phosphoserine (By similarity).
449Phosphoserine.
459Phosphoserine.
469Phosphothreonine.
480Phosphoserine.
570Phosphoserine.
Location(AA) Modifications Resource
217PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
108Phosphoserine(ATM)HMM predict
108Phosphoserine(CK1)HMM predict
119Phosphothreonine(PKC)HMM predict
146Phosphoserine(CK1)HMM predict
197Phosphoserine(PKG)HMM predict
197Phosphoserine(IKK)HMM predict
217Phosphoserine(CDC2)HMM predict
240Phosphoserine(ATM)HMM predict
240Phosphoserine(PKA)HMM predict
240Phosphoserine(PKG)HMM predict
240Phosphoserine(IKK)HMM predict
303Phosphothreonine(PKC)HMM predict
310Phosphoserine(PKC)HMM predict
337N-linkedHMM predict
368Phosphoserine(IKK)HMM predict
463Phosphoserine(IKK)HMM predict
463Phosphoserine(CDC2)HMM predict
465O-linkedHMM predict
466O-linkedHMM predict
479O-linkedHMM predict
570Phosphoserine(CDC2)HMM predict
570Phosphoserine(CDK)HMM predict
572Phosphothreonine(CDK)HMM predict
578Phosphoserine(IKK)HMM predict
602Phosphoserine(PKG)HMM predict
617Phosphoserine(ATM)HMM predict
621Phosphoserine(IKK)HMM predict
621Phosphoserine(ATM)HMM predict
628Phosphoserine(CK2)HMM predict
695Phosphoserine(CK2)HMM predict
706SerineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022772
  • Location:chr11 696122-717725
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 DLD1GSE12801 694999 695428 429 909
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 717945 718404 459 449
CTCF CD4SISSRdata 717945 718404 459 449
CTCF JurkatGSE12889 718015 718326 311 445
FOXA1 MCF7GSE15244 724660 726052 1392 7631
NRSF pAbJurkat 718147 720186 2039 1441
P300 T30-glioblastomaGSE21026 717378 718886 1508 407
Stat6 IL-4-hr1GSE17850 718848 719323 475 1360
hScc1 BcellGSE12603 717846 718408 562 402
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 DLD1GSE12801 697804 698171 367 0
FOXA1 DLD1GSE12801 709282 709489 207 0
NRSF pAbJurkat 697804 698669 865 0
NRSF pAbJurkat 699188 699706 518 0
NRSF pAbJurkat 714261 714768 507 0
NRSF pAbJurkat 715527 716029 502 0
NRSF pAbJurkat 717168 717476 308 0
TFAP2C MCF7GSE21234 697654 698667 1013 0
hScc1 BcellGSE12603 696977 697341 364 0
hScc1 BcellGSE12603 697838 698243 405 0
hScc1 BcellGSE12603 712557 713808 1251 0
hScc1 CdLSGSE12603 713044 713653 609 0
hScc1 G2GSE9613 712795 713401 606 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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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