AutismKB 2.0

Annotation Detail for POLE


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:POLE ( DKFZp434F222,FLJ21434,POLE1 )
Gene Full Name: polymerase (DNA directed), epsilon
Band: 12q24.33
Quick LinksEntrez ID:5426; OMIM: 174762; Uniprot ID:DPOE1_HUMAN; ENSEMBL ID: ENSG00000177084; HGNC ID: 9177
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1940Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
84SulfotyrosineHMM predict
105Phosphotyrosine(Jak)HMM predict
133Phosphothreonine(PKC)HMM predict
202Phosphothreonine(CK2)HMM predict
208Phosphoserine(CK1)HMM predict
224Phosphotyrosine(Syk)HMM predict
224Phosphotyrosine(INSR)HMM predict
328Phosphotyrosine(Syk)HMM predict
397Phosphotyrosine(Syk)HMM predict
539Phosphotyrosine(INSR)HMM predict
754Phosphotyrosine(EGFR)HMM predict
780Phosphoserine(PKG)HMM predict
910Phosphotyrosine(SRC)HMM predict
987Phosphoserine(CDK)HMM predict
1003Phosphotyrosine(SRC)HMM predict
1046Phosphotyrosine(INSR)HMM predict
1053Phosphoserine(CK1)HMM predict
1090Phosphothreonine(PKC)HMM predict
1196Phosphothreonine(PKA)HMM predict
1204PhosphoserineHMM predict
1228Phosphothreonine(PKC)HMM predict
1242Phosphoserine(ATM)HMM predict
1242Phosphoserine(IKK)HMM predict
1246Phosphothreonine(MAPK)HMM predict
1381Phosphotyrosine(EGFR)HMM predict
1400SulfotyrosineHMM predict
1401Phosphoserine(ATM)HMM predict
1407Phosphotyrosine(EGFR)HMM predict
1511Phosphoserine(PKG)HMM predict
1511Phosphoserine(PKA)HMM predict
1583Phosphothreonine(PKA)HMM predict
1598PhosphoserineHMM predict
1717N-linkedHMM predict
1765Phosphoserine(IKK)HMM predict
1781Phosphoserine(IKK)HMM predict
1813Phosphotyrosine(Syk)HMM predict
1827Phosphoserine(CDC2)HMM predict
1902Phosphoserine(IKK)HMM predict
1922Phosphotyrosine(INSR)HMM predict
1940Phosphoserine(ATM)HMM predict
2023Phosphothreonine(CDC2)HMM predict
2023Phosphothreonine(CDK)HMM predict
2023Phosphothreonine(MAPK)HMM predict
2031Phosphoserine(PKG)HMM predict
2031Phosphoserine(IKK)HMM predict
2034Phosphoserine(ATM)HMM predict
2079N-linkedHMM predict
2117N-linkedHMM predict
2120N-linkedHMM predict
2123N-linkedHMM predict
2174Phosphoserine(CK2)HMM predict
2176Phosphoserine(CK1)HMM predict
2221S-palmitoylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006231
  • Location:chr12 131710420-131774017
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 131773679 131774503 824 74
NFkBII GM10847GSE19485 131773397 131774751 1354 57
PHF8 293TGSE20725 131773432 131774757 1325 77
PHF8 HeLaGSE20725 131773284 131774903 1619 76
Rb GrowingGSE19898 131773934 131774193 259 46
Rb shRbQuiescentGSE19898 131773932 131774120 188 9
Rb shRbSenescenceGSE19898 131773960 131774228 268 77
TFAP2C MCF7GSE21234 131773761 131774302 541 14
VDR GM10861-UnstimGSE22484 131773498 131774747 1249 105
p130 SenescentGSE19898 131773916 131774159 243 20
p130 shRbQuiescentGSE19898 131773872 131774208 336 23
p130 shRbSenescentGSE19898 131773810 131774310 500 43
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
RARA MCF7GSE15244 131709192 131711072 1880 289
RARG MCF7GSE15244 131709192 131710787 1595 431
TFAP2C MCF7GSE21234 131708988 131710608 1620 623
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 131725462 131725671 209 0
CTCF CD4SISSRdata 131725462 131725671 209 0
CTCF G2GSE9613 131711002 131713129 2127 0
CTCF G2GSE9613 131718487 131718923 436 0
CTCF G2GSE9613 131719165 131719451 286 0
CTCF G2GSE9613 131721250 131722342 1092 0
CTCF G2GSE9613 131724136 131726302 2166 0
CTCF G2GSE9613 131727838 131728023 185 0
CTCF G2GSE9613 131728473 131728766 293 0
CTCF G2GSE9613 131730026 131730402 376 0
CTCF G2GSE9613 131735297 131736432 1135 0
CTCF G2GSE9613 131743820 131744383 563 0
CTCF G2GSE9613 131745784 131745990 206 0
CTCF G2GSE9613 131750568 131751023 455 0
CTCF G2GSE9613 131751518 131751894 376 0
CTCF G2GSE9613 131754765 131755448 683 0
CTCF G2GSE9613 131758781 131759324 543 0
CTCF G2GSE9613 131759614 131760432 818 0
CTCF G2GSE9613 131761034 131761265 231 0
CTCF G2GSE9613 131762102 131762407 305 0
FOXA1 MCF7GSE15244 131724609 131725870 1261 0
H3K4me2 HCT116GSE10453 131770591 131771939 1348 0
H3K4me3 colorectalcancer 131772222 131772503 281 0
H3K4me3 colorectalcancer 131773544 131773749 205 0
H3ac HepG2E 131770192 131772503 2311 0
KLF4 hESGSE17917 131773477 131773669 192 0
LIN54 SGSE7516 131770631 131771939 1308 0
LIN9 SGSE7516 131770736 131771939 1203 0
NRSF mAbJurkat 131773544 131773886 342 0
NRSF pAbJurkat 131711448 131712187 739 0
NRSF pAbJurkat 131721664 131722278 614 0
NRSF pAbJurkat 131773544 131774251 707 0
RARA MCF7GSE15244 131724817 131725757 940 0
RARA MCF7GSE15244 131770192 131772440 2248 0
RARG MCF7GSE15244 131734370 131734785 415 0
RARG MCF7GSE15244 131770516 131772503 1987 0
Rb QuiescentGSE19898 131773790 131774228 438 0
Rb SenescentGSE19898 131773583 131774318 735 0
TAF HelaGSE8489 131764096 131764529 433 0
TAF HelaGSE8489 131770516 131772503 1987 0
hScc1 BcellGSE12603 131722030 131722438 408 0
hScc1 BcellGSE12603 131729680 131729963 283 0
hScc1 BcellGSE12603 131770736 131771207 471 0
hScc1 BcellGSE12603 131771486 131771939 453 0
hScc1 BcellGSE12603 131773544 131774279 735 0
hScc1 CdLSGSE12603 131773544 131774347 803 0
hScc1 G2GSE9613 131725187 131725678 491 0
p130 QuiescentGSE19898 131773833 131774173 340 0
p130 SGSE7516 131770591 131771939 1348 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved