AutismKB 2.0

Annotation Detail for EPN3


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Basic Information Top
Gene Symbol:EPN3 ( FLJ20778,MGC129899 )
Gene Full Name: epsin 3
Band: 17q21.33
Quick LinksEntrez ID:55040; OMIM: 607264; Uniprot ID:EPN3_HUMAN; ENSEMBL ID: ENSG00000049283; HGNC ID: 18235
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
17Phosphotyrosine.
176Phosphotyrosine.
182Phosphoserine (By similarity).
186Phosphotyrosine.
393Phosphoserine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
16N-linkedHMM predict
65N-linkedHMM predict
70N-linkedHMM predict
150Phosphothreonine(PKC)HMM predict
176Phosphotyrosine(Jak)HMM predict
187N-linkedHMM predict
191Phosphoserine(CK1)HMM predict
192Phosphoserine(ATM)HMM predict
192Phosphoserine(CDC2)HMM predict
196Phosphothreonine(CK2)HMM predict
206Phosphothreonine(PKC)HMM predict
207Phosphoserine(CK2)HMM predict
295Phosphothreonine(PKC)HMM predict
296Phosphoserine(ATM)HMM predict
337O-linkedHMM predict
342O-linkedHMM predict
358Phosphoserine(ATM)HMM predict
370Phosphoserine(ATM)HMM predict
376Phosphothreonine(CDK)HMM predict
376Phosphothreonine(CDC2)HMM predict
415Phosphothreonine(MAPK)HMM predict
444O-linkedHMM predict
449Phosphoserine(MAPK)HMM predict
449Phosphoserine(CDC2)HMM predict
462O-linkedHMM predict
462Phosphoserine(CK1)HMM predict
466N-linkedHMM predict
484Phosphothreonine(PKC)HMM predict
495Phosphothreonine(MAPK)HMM predict
498Phosphoserine(IKK)HMM predict
534Phosphoserine(CDC2)HMM predict
556Phosphoserine(IKK)HMM predict
613Phosphothreonine(CDK)HMM predict
615O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017957
  • Location:chr17 45965097-45975159
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
USF1 HepG2E 45975403 45977207 1804 1146
USF2 HepG2E 45975403 45977207 1804 1146
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 45974225 45974460 235 0
CTCF CD4SISSRdata 45974225 45974460 235 0
CTCF G2GSE9613 45969146 45969304 158 0
CTCF G2GSE9613 45974248 45974976 728 0
ER E2-MCF7GSE14664 45966719 45966756 37 0
H3ac HepG2E 45971625 45972256 631 0
H3ac HepG2E 45972823 45974145 1322 0
H3ac HepG2E 45974801 45974976 175 0
PHF8 HeLaGSE20725 45974112 45975054 942 0
Rb QuiescentGSE19898 45966303 45966442 139 0
TFAP2C MCF7GSE21234 45964446 45965909 1463 0
USF1 HepG2E 45974765 45974976 211 0
USF2 HepG2E 45974801 45974976 175 0
hScc1 BcellGSE12603 45966161 45966430 269 0
hScc1 BcellGSE12603 45974113 45974718 605 0
p130 shRbQuiescentGSE19898 45966092 45966588 496 0
p63 keratinocytesGSE17611 45971608 45972983 1375 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
11376 mRNA EPN3 chr17 45965097 45975160 119 EST chr17 45969658 45970800Sense/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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