AutismKB 2.0

Annotation Detail for ELP3


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Basic Information Top
Gene Symbol:ELP3 ( FLJ10422,KAT9 )
Gene Full Name: elongation protein 3 homolog (S. cerevisiae)
Band: 8p21.1
Quick LinksEntrez ID:55140; OMIM: 612722; Uniprot ID:ELP3_HUMAN; ENSEMBL ID: ENSG00000134014; HGNC ID: 20696
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
202Phosphotyrosine.
Location(AA) Modifications Resource
202Phosphotyrosine.Swiss-Prot 53.0
Location(AA) Modification Resource
118Phosphoserine(CK2)HMM predict
122SulfotyrosineHMM predict
127SulfotyrosineHMM predict
128O-linkedHMM predict
130Phosphotyrosine(Syk)HMM predict
181Phosphotyrosine(Syk)HMM predict
194Phosphoserine(CK1)HMM predict
202Phosphotyrosine(Syk)HMM predict
202Phosphotyrosine(SRC)HMM predict
251Phosphotyrosine(Syk)HMM predict
263Phosphothreonine(PKC)HMM predict
439SulfotyrosineHMM predict
457Phosphoserine(PKG)HMM predict
478Phosphotyrosine(SRC)HMM predict
485O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018091
  • Location:chr8 28006644-28104584
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 27998865 27999161 296 7632
ETS1 JurkatGSE17954 28005800 28007296 1496 97
FOXA1 MCF7GSE15244 28006347 28006711 364 116
H3ac HepG2E 27991015 27991559 544 15358
Oct1 HelaGSE14283 28002439 28002489 50 4181
Oct1 HelaGSE14283 28003232 28003275 43 3391
P300 T30-glioblastomaGSE21026 28005948 28006931 983 205
PHF8 293TGSE20725 28005845 28007102 1257 171
PHF8 HeLaGSE20725 28005965 28007260 1295 32
PHF8 Hs68minusFBSGSE20725 28006133 28007058 925 49
PHF8 Hs68plusFBSGSE20725 28005765 28007150 1385 187
Pol2 GM12878GSE19551 28005822 28007033 1211 217
PolII HeLaGSE12783 28005259 28007455 2196 288
hScc1 BcellGSE12603 27998901 27999161 260 7614
hScc1 CdLSGSE12603 27998830 27999161 331 7649
p130 shRbQuiescentGSE19898 28006004 28006487 483 399
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 28108851 28109130 279 4406
CTCF G2GSE9613 28110367 28110659 292 5929
ER E2-MCF7GSE14664 28121445 28121487 42 16882
FOXA1 MCF7GSE15244 28116331 28116701 370 11932
Oct1 HelaGSE14283 28110777 28110807 30 6208
RARA MCF7GSE15244 28116331 28117080 749 12121
RARG MCF7GSE15244 28116331 28116982 651 12072
Rb GrowingGSE19898 28116590 28116794 204 12108
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 28031193 28031763 570 0
ER MCF7GSE19013 28060888 28062336 1448 0
FOXA1 DLD1GSE12801 28024732 28024959 227 0
FOXA1 DLD1GSE12801 28079868 28080273 405 0
FOXA1 MCF7GSE15244 28032144 28032609 465 0
H3ac HepG2E 28006044 28007678 1634 0
H3ac HepG2E 28008473 28008798 325 0
Nanog hESGSE18292 28006833 28007069 236 0
Oct1 H2O2-HelaGSE14283 28046022 28046058 36 0
Oct1 H2O2-HelaGSE14283 28090731 28090766 35 0
Oct1 HelaGSE14283 28007129 28007172 43 0
Oct1 HelaGSE14283 28009259 28009304 45 0
Oct1 HelaGSE14283 28011658 28011686 28 0
Oct1 HelaGSE14283 28046026 28046058 32 0
Oct1 HelaGSE14283 28090731 28090766 35 0
RARA MCF7GSE15244 28050411 28051071 660 0
TAF k562GSE8489 28006530 28007723 1193 0
TFAP2C MCF7GSE21234 28050848 28051228 380 0
TFAP2C MCF7GSE21234 28059576 28059906 330 0
USF1 HepG2E 28006044 28007723 1679 0
USF2 HepG2E 28006044 28007501 1457 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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