AutismKB 2.0

Annotation Detail for POLA1


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Basic Information Top
Gene Symbol:POLA1 ( DKFZp686K1672,POLA,p180 )
Gene Full Name: polymerase (DNA directed), alpha 1, catalytic subunit
Band: Xp22.11-p21.3
Quick LinksEntrez ID:5422; OMIM: 312040; Uniprot ID:DPOLA_HUMAN; ENSEMBL ID: ENSG00000101868; HGNC ID: 9173
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
129Phosphothreonine.
174Phosphothreonine.
186Phosphoserine.
190Phosphoserine.
209Phosphoserine.
219Phosphothreonine.
Location(AA) Modifications Resource
186Phosphoserine (By similarity).Swiss-Prot 53.0
209PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
11Phosphoserine(CK2)HMM predict
11Phosphoserine(CK1)HMM predict
15Phosphoserine(IKK)HMM predict
58Phosphotyrosine(SRC)HMM predict
66Phosphotyrosine(SRC)HMM predict
67Phosphoserine(CK1)HMM predict
174Phosphothreonine(MAPK)HMM predict
186Phosphoserine(PKA)HMM predict
198O-linkedHMM predict
204O-linkedHMM predict
209Phosphoserine(MAPK)HMM predict
209Phosphoserine(CDC2)HMM predict
219Phosphothreonine(MAPK)HMM predict
238Phosphothreonine(CK2)HMM predict
289Phosphoserine(CK1)HMM predict
318Phosphoserine(CK1)HMM predict
353Phosphotyrosine(Syk)HMM predict
406Phosphothreonine(CDC2)HMM predict
414Phosphotyrosine(Syk)HMM predict
452Phosphotyrosine(EGFR)HMM predict
452Phosphotyrosine(Syk)HMM predict
480N-linkedHMM predict
683N-linkedHMM predict
733Phosphoserine(CK1)HMM predict
801Phosphotyrosine(Syk)HMM predict
801Phosphotyrosine(INSR)HMM predict
830Phosphotyrosine(Jak)HMM predict
890Phosphothreonine(CK2)HMM predict
968Phosphotyrosine(Syk)HMM predict
1011N-linkedHMM predict
1014N-linkedHMM predict
1068Phosphotyrosine(INSR)HMM predict
1125N-linkedHMM predict
1131Phosphoserine(ATM)HMM predict
1185N-linkedHMM predict
1203N-linkedHMM predict
1211Phosphotyrosine(Syk)HMM predict
1211Phosphotyrosine(Jak)HMM predict
1273Phosphotyrosine(Syk)HMM predict
1292Phosphotyrosine(Syk)HMM predict
1355N-linkedHMM predict
1357Phosphothreonine(PKA)HMM predict
1384Phosphoserine(CK1)HMM predict
1387PhosphoserineHMM predict
1446TyrosineHMM predict
1446Phosphotyrosine(INSR)HMM predict
1461LysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016937
  • Location:chrX 24621976-24925020
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 24604521 24604740 219 17346
CTCF CD4SISSRdata 24604521 24604740 219 17346
CTCF HelaGSE12889 24621475 24621662 187 408
CTCF G2GSE9613 24621485 24621664 179 402
ETS1 JurkatGSE17954 24621296 24622364 1068 147
LIN9 G0GSE7516 24621485 24622219 734 125
PHF8 293TGSE20725 24621515 24622332 817 53
Rb QuiescentGSE19898 24621500 24621811 311 321
Rb SenescentGSE19898 24621473 24622115 642 183
hScc1 BcellGSE12603 24621485 24621910 425 279
p130 SenescentGSE19898 24621502 24622197 695 127
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 24927415 24928073 658 2724
Sox2 hESGSE18292 24927551 24928065 514 2788
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 24733929 24734151 222 0
CBP T30-glioblastomaGSE21026 24790306 24790879 573 0
CTCF CD4GSE12889 24680592 24680802 210 0
CTCF CD4GSE12889 24766766 24767045 279 0
CTCF CD4SISSRdata 24680592 24680802 210 0
CTCF CD4SISSRdata 24766766 24767045 279 0
ER E2-MCF7GSE14664 24663570 24663601 31 0
FOXA1 MCF7GSE15244 24676412 24676666 254 0
H3ac HepG2E 24716783 24717104 321 0
Nanog ESGSE20650 24911516 24911667 151 0
Nanog hESGSE18292 24680580 24680757 177 0
Nanog hESGSE18292 24766826 24767004 178 0
Nanog hESGSE18292 24774750 24775022 272 0
Oct1 H2O2-HelaGSE14283 24638173 24638206 33 0
Oct1 H2O2-HelaGSE14283 24655241 24655280 39 0
Oct1 H2O2-HelaGSE14283 24735213 24735248 35 0
Oct1 HelaGSE14283 24655240 24655279 39 0
Oct1 HelaGSE14283 24788961 24788994 33 0
P300 T0-glioblastomaGSE21026 24733582 24734380 798 0
P300 T0-glioblastomaGSE21026 24790294 24790806 512 0
P300 T30-glioblastomaGSE21026 24790074 24790894 820 0
PHF8 HeLaGSE20725 24621599 24622581 982 0
RARA MCF7GSE15244 24676340 24676765 425 0
RNAII Tamoxifen-MCF7GSE14664 24663558 24663605 47 0
Rb GrowingGSE19898 24621916 24622058 142 0
Rb GrowingGSE19898 24863702 24863834 132 0
Rb QuiescentGSE19898 24621821 24622146 325 0
Rb SenescentGSE19898 24622144 24622345 201 0
hScc1 BcellGSE12603 24702151 24702392 241 0
p130 QuiescentGSE19898 24621864 24622277 413 0
p130 SenescentGSE19898 24766617 24767008 391 0
p130 shRbQuiescentGSE19898 24621776 24622226 450 0
p130 shRbSenescentGSE19898 24621816 24622141 325 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-206 hsa-mir-206 6 16923828
No data
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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