AutismKB 2.0

Annotation Detail for ELL


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Basic Information Top
Gene Symbol:ELL ( C19orf17,DKFZp434I1916,ELL1,MEN )
Gene Full Name: elongation factor RNA polymerase II
Band: 19p13.11
Quick LinksEntrez ID:8178; OMIM: 600284; Uniprot ID:ELL_HUMAN; ENSEMBL ID: ENSG00000105656; HGNC ID: 23114
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
170Phosphothreonine.
309Phosphoserine.
459Nuclear localization signal (Potential).
561Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
47Phosphoserine(PKA)HMM predict
47Phosphoserine(CAMK2)HMM predict
59Phosphoserine(ATM)HMM predict
127Phosphotyrosine(EGFR)HMM predict
180Phosphothreonine(PKA)HMM predict
203Phosphoserine(ATM)HMM predict
266Phosphotyrosine(Syk)HMM predict
308O-linkedHMM predict
309Phosphoserine(CDC2)HMM predict
317Phosphoserine(PKG)HMM predict
317O-linkedHMM predict
319Phosphoserine(PKA)HMM predict
319Phosphoserine(CAMK2)HMM predict
319Phosphoserine(ATM)HMM predict
319Phosphoserine(IKK)HMM predict
319Phosphoserine(PKB)HMM predict
319PhosphoserineHMM predict
374O-linkedHMM predict
375O-linkedHMM predict
379Phosphoserine(CK1)HMM predict
380O-linkedHMM predict
422Phosphothreonine(PKC)HMM predict
442Phosphoserine(CDC2)HMM predict
480Phosphothreonine(MAPK)HMM predict
487Phosphothreonine(MAPK)HMM predict
491N-linkedHMM predict
498O-linkedHMM predict
498O-linkedHMM predict
501O-linkedHMM predict
501O-linkedHMM predict
502Phosphoserine(IKK)HMM predict
502O-linkedHMM predict
503O-linkedHMM predict
504O-linkedHMM predict
504Phosphoserine(CK2)HMM predict
524Phosphoserine(PKG)HMM predict
561Phosphoserine(ATM)HMM predict
561Phosphoserine(CAMK2)HMM predict
567Phosphotyrosine(EGFR)HMM predict
567Phosphotyrosine(Syk)HMM predict
587N-linkedHMM predict
597Phosphotyrosine(Jak)HMM predict
608LeucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006532
  • Location:chr19 18414473-18493917
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 293TGSE20725 18494268 18494873 605 653
Rb GrowingGSE19898 18494348 18494534 186 524
Rb SenescentGSE19898 18494024 18494637 613 413
p130 SenescentGSE19898 18493703 18494690 987 279
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 18412341 18412479 138 2064
CTCF CD4SISSRdata 18412341 18412479 138 2064
CTCF G2GSE9613 18412304 18412571 267 2036
hScc1 BcellGSE12603 18412304 18412477 173 2083
hScc1 BcellGSE12603 18413614 18413750 136 792
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 18462897 18463114 217 0
CBP T30-glioblastomaGSE21026 18431209 18432051 842 0
CBP T30-glioblastomaGSE21026 18450319 18451317 998 0
CTCF CD4GSE12889 18422732 18423114 382 0
CTCF CD4GSE12889 18433667 18433959 292 0
CTCF CD4GSE12889 18441458 18441657 199 0
CTCF CD4GSE12889 18492133 18492344 211 0
CTCF CD4SISSRdata 18422732 18423114 382 0
CTCF CD4SISSRdata 18433667 18433959 292 0
CTCF CD4SISSRdata 18441458 18441657 199 0
CTCF CD4SISSRdata 18492133 18492344 211 0
CTCF HelaGSE12889 18422702 18423030 328 0
CTCF HelaGSE12889 18492099 18492443 344 0
CTCF JurkatGSE12889 18422791 18423062 271 0
CTCF JurkatGSE12889 18441343 18441746 403 0
CTCF G2GSE9613 18422651 18423255 604 0
CTCF G2GSE9613 18433495 18434112 617 0
CTCF G2GSE9613 18441469 18442360 891 0
CTCF G2GSE9613 18456923 18457485 562 0
CTCF G2GSE9613 18459942 18460831 889 0
CTCF G2GSE9613 18472885 18474153 1268 0
ER E2-MCF7GSE14664 18488508 18488551 43 0
ER MCF7GSE19013 18418467 18419502 1035 0
ER MCF7GSE19013 18457765 18458636 871 0
FOXA1 MCF7GSE15244 18447599 18447873 274 0
H3K4me3 colorectalcancer 18492844 18493283 439 0
H3ac HepG2E 18447599 18448771 1172 0
H3ac HepG2E 18490772 18491309 537 0
H3ac HepG2E 18492483 18493314 831 0
HIF1 HypoHepG2 18475908 18476487 579 0
Myc K562GSE19551 18422794 18423114 320 0
Myc hESGSE17917 18493672 18493980 308 0
Oct1 HelaGSE14283 18482148 18482175 27 0
P300 T30-glioblastomaGSE21026 18431352 18432246 894 0
P300 T30-glioblastomaGSE21026 18450432 18451453 1021 0
PHF8 293TGSE20725 18493382 18494030 648 0
PHF8 HeLaGSE20725 18493078 18494040 962 0
Rb GrowingGSE19898 18492039 18492340 301 0
Rb GrowingGSE19898 18492804 18493123 319 0
STAT1 IFNSISSRdata 18431569 18432105 536 0
TAF HelaGSE8489 18492674 18493249 575 0
TAF k562GSE8489 18492674 18493283 609 0
TAFII hESGSE17917 18422784 18423025 241 0
TFAP2C MCF7GSE21234 18418701 18419440 739 0
TFAP2C MCF7GSE21234 18440014 18440863 849 0
TFAP2C MCF7GSE21234 18450522 18451150 628 0
TFAP2C MCF7GSE21234 18459590 18460549 959 0
VDR GM10855-stimGSE22484 18473912 18475266 1354 0
VDR GM10861-stimGSE22484 18474010 18475282 1272 0
hScc1 BcellGSE12603 18422351 18423066 715 0
hScc1 BcellGSE12603 18428732 18429099 367 0
hScc1 BcellGSE12603 18433675 18434112 437 0
hScc1 BcellGSE12603 18438599 18439089 490 0
hScc1 BcellGSE12603 18441786 18442360 574 0
hScc1 BcellGSE12603 18457814 18458025 211 0
hScc1 BcellGSE12603 18458348 18459079 731 0
hScc1 BcellGSE12603 18465248 18465634 386 0
hScc1 BcellGSE12603 18477715 18478121 406 0
hScc1 BcellGSE12603 18479498 18479920 422 0
hScc1 BcellGSE12603 18491655 18492126 471 0
hScc1 BcellGSE12603 18492803 18493854 1051 0
hScc1 G2GSE9613 18441391 18442360 969 0
p130 SenescentGSE19898 18491720 18492422 702 0
p130 SenescentGSE19898 18492556 18492812 256 0
p130 shRbQuiescentGSE19898 18492605 18493265 660 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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