AutismKB 2.0

Annotation Detail for EPPK1


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Basic Information Top
Gene Symbol:EPPK1 ( EPIPL,EPIPL1 )
Gene Full Name: epiplakin 1
Band: 8q24.3
Quick LinksEntrez ID:83481; OMIM: 607553; Uniprot ID:EPIPL_HUMAN; ENSEMBL ID: ; HGNC ID: 15577
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2716Phosphoserine.
4644Phosphoserine.
4852Phosphoserine.
4854Phosphoserine.
4858Phosphothreonine.
Location(AA) Modifications Resource
2483PhosphoserinePhospho.ELM 6.0
2691Phosphoserine.Swiss-Prot 53.0
2691PhosphoserinePhospho.ELM 6.0
2693PhosphoserinePhospho.ELM 6.0
4619Phosphoserine.Swiss-Prot 53.0
4827Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
9Phosphothreonine(CDC2)HMM predict
33Phosphotyrosine(Syk)HMM predict
97Phosphotyrosine(Syk)HMM predict
97SulfotyrosineHMM predict
247O-linkedHMM predict
408Phosphoserine(CAMK2)HMM predict
408Phosphoserine(ATM)HMM predict
408Phosphoserine(IKK)HMM predict
412Phosphoserine(IKK)HMM predict
414Phosphoserine(ATM)HMM predict
448MethylarginineHMM predict
467O-linkedHMM predict
468O-linkedHMM predict
470O-linkedHMM predict
495Phosphoserine(CK1)HMM predict
543Phosphothreonine(MAPK)HMM predict
558Phosphotyrosine(Syk)HMM predict
600Phosphoserine(CK1)HMM predict
670Phosphotyrosine(Syk)HMM predict
750N-linkedHMM predict
887Phosphoserine(MAPK)HMM predict
953Phosphoserine(MAPK)HMM predict
953Phosphoserine(IKK)HMM predict
958Phosphoserine(CK1)HMM predict
991Phosphoserine(CDK)HMM predict
996Phosphoserine(CAMK2)HMM predict
1053Phosphoserine(CK2)HMM predict
1056O-linkedHMM predict
1056O-linkedHMM predict
1146Phosphothreonine(PKC)HMM predict
1236Phosphoserine(PKG)HMM predict
1434Phosphothreonine(PKC)HMM predict
1523Phosphoserine(CK1)HMM predict
1523Phosphoserine(ATM)HMM predict
1541Phosphoserine(PKG)HMM predict
1561Phosphoserine(CK1)HMM predict
1599Phosphothreonine(PKC)HMM predict
1614Phosphotyrosine(EGFR)HMM predict
1631Phosphotyrosine(Syk)HMM predict
1684Phosphotyrosine(Syk)HMM predict
1711N-linkedHMM predict
1741Phosphotyrosine(INSR)HMM predict
1754O-linkedHMM predict
1777Phosphoserine(CDC2)HMM predict
1781Phosphothreonine(PKC)HMM predict
1815O-linkedHMM predict
1860Phosphothreonine(PKC)HMM predict
1925Phosphoserine(PKG)HMM predict
2016Phosphotyrosine(Jak)HMM predict
2107Phosphothreonine(PKC)HMM predict
2128Phosphothreonine(PKC)HMM predict
2289Phosphotyrosine(Syk)HMM predict
2369N-linkedHMM predict
2416Phosphothreonine(MAPK)HMM predict
2416Phosphothreonine(CDK)HMM predict
2466Phosphoserine(MAPK)HMM predict
2483O-linkedHMM predict
2483PhosphoserineHMM predict
2547Phosphothreonine(PKA)HMM predict
2586Phosphoserine(ATM)HMM predict
2691Phosphoserine(PKG)HMM predict
2691Phosphoserine(CAMK2)HMM predict
2791Phosphoserine(CK2)HMM predict
2823Phosphotyrosine(Syk)HMM predict
2903N-linkedHMM predict
2950Phosphothreonine(MAPK)HMM predict
2950Phosphothreonine(CDK)HMM predict
3000Phosphoserine(MAPK)HMM predict
3017O-linkedHMM predict
3017PhosphoserineHMM predict
3081Phosphothreonine(PKA)HMM predict
3120Phosphoserine(ATM)HMM predict
3225Phosphoserine(PKG)HMM predict
3225Phosphoserine(CAMK2)HMM predict
3325Phosphoserine(CK2)HMM predict
3357Phosphotyrosine(Syk)HMM predict
3437N-linkedHMM predict
3484Phosphothreonine(MAPK)HMM predict
3484Phosphothreonine(CDK)HMM predict
3534Phosphoserine(MAPK)HMM predict
3551O-linkedHMM predict
3551PhosphoserineHMM predict
3615Phosphothreonine(PKA)HMM predict
3654Phosphoserine(ATM)HMM predict
3759Phosphoserine(PKG)HMM predict
3759Phosphoserine(CAMK2)HMM predict
3859Phosphoserine(CK2)HMM predict
3891Phosphotyrosine(Syk)HMM predict
3971N-linkedHMM predict
4018Phosphothreonine(MAPK)HMM predict
4018Phosphothreonine(CDK)HMM predict
4068Phosphoserine(MAPK)HMM predict
4085O-linkedHMM predict
4085PhosphoserineHMM predict
4149Phosphothreonine(PKA)HMM predict
4188Phosphoserine(ATM)HMM predict
4293Phosphoserine(PKG)HMM predict
4293Phosphoserine(CAMK2)HMM predict
4393Phosphoserine(CK2)HMM predict
4425Phosphotyrosine(Syk)HMM predict
4505N-linkedHMM predict
4552Phosphothreonine(MAPK)HMM predict
4552Phosphothreonine(CDK)HMM predict
4602Phosphoserine(MAPK)HMM predict
4619O-linkedHMM predict
4619PhosphoserineHMM predict
4683Phosphothreonine(PKA)HMM predict
4722Phosphoserine(ATM)HMM predict
4827Phosphoserine(PKG)HMM predict
4827Phosphoserine(CAMK2)HMM predict
4927Phosphoserine(CK2)HMM predict
4959Phosphotyrosine(Syk)HMM predict
5039N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_031308
  • Location:chr8 145011899-145019421
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 145020304 145021023 719 1242
FOXA1 MCF7GSE15244 145029109 145029384 275 9825
NRSF pAbJurkat 145019652 145020423 771 616
NRSF pAbJurkat 145025267 145026778 1511 6601
NRSF pAbJurkat 145028334 145028812 478 9152
NRSF pAbJurkat 145029557 145031916 2359 11315
NRSF pAbJurkat 145035481 145036057 576 16348
NRSF pAbJurkat 145036880 145037906 1026 17972
TFAP2C MCF7GSE21234 145019881 145021060 1179 1049
TFAP2C MCF7GSE21234 145022121 145022923 802 3101
TFAP2C MCF7GSE21234 145023901 145024379 478 4719
TFAP2C MCF7GSE21234 145033312 145033626 314 14048
hScc1 BcellGSE12603 145019455 145020188 733 400
hScc1 BcellGSE12603 145020845 145021495 650 1749
hScc1 BcellGSE12603 145028656 145028947 291 9380
hScc1 BcellGSE12603 145029360 145030564 1204 10541
hScc1 BcellGSE12603 145030868 145031244 376 11635
hScc1 BcellGSE12603 145031849 145033065 1216 13036
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 145017513 145018059 546 0
NRSF pAbJurkat 145012389 145012849 460 0
NRSF pAbJurkat 145015054 145016670 1616 0
hScc1 BcellGSE12603 145014770 145015759 989 0
hScc1 BcellGSE12603 145018024 145018420 396 0
Validated miRNA targets Top
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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