AutismKB 2.0

Annotation Detail for POLDIP3


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Basic Information Top
Gene Symbol:POLDIP3 ( KIAA1649,PDIP46,SKAR )
Gene Full Name: polymerase (DNA-directed), delta interacting protein 3
Band: 22q13.2
Quick LinksEntrez ID:84271; OMIM: 611520; Uniprot ID:PDIP3_HUMAN; ENSEMBL ID: ENSG00000100227; HGNC ID: 23782
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
42Phosphoserine.
127Phosphoserine.
140Phosphothreonine.
275Phosphoserine.
383Phosphoserine; by RPS6KB1.
385Phosphoserine; by RPS6KB1.
Location(AA) Modifications Resource
127PhosphoserinePhospho.ELM 6.0
275PhosphoserinePhospho.ELM 6.0
383Phosphoserine (p70S6K)Phospho.ELM 6.0
385PhosphoserinePhospho.ELM 6.0
406PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
42Phosphoserine(ATM)HMM predict
127Phosphoserine(PKA)HMM predict
140O-linkedHMM predict
217Phosphoserine(IKK)HMM predict
275Phosphoserine(MAPK)HMM predict
292Phosphothreonine(PKC)HMM predict
301S-palmitoylHMM predict
303S-palmitoylHMM predict
368Phosphoserine(CDC2)HMM predict
409Phosphoserine(IKK)HMM predict
409O-linkedHMM predict
411O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032311
  • Location:chr22 41309671-41340905
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 41340100 41341889 1789 89
PHF8 HeLaGSE20725 41340131 41342005 1874 163
PHF8 Hs68plusFBSGSE20725 41339964 41342059 2095 106
PolII HeLaGSE12783 41339661 41342626 2965 238
RARG MCF7GSE15244 41341364 41341922 558 738
Rb shRbSenescenceGSE19898 41341630 41341928 298 874
Sox2 hESGSE18292 41341319 41341481 162 495
hScc1 BcellGSE12603 41341337 41341637 300 582
p130 shRbQuiescentGSE19898 41340600 41341878 1278 334
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 41307471 41307974 503 1949
H3K4me3 colorectalcancer 41307216 41307508 292 2310
H3ac HepG2E 41305974 41307761 1787 2804
LIN9 G0GSE7516 41307399 41308371 972 1787
PHF8 HeLaGSE20725 41307402 41308374 972 1784
PolII HeLaGSE12783 41307473 41308371 898 1750
Rb QuiescentGSE19898 41306999 41307126 127 2609
Rb QuiescentGSE19898 41308074 41308194 120 1538
TAF k562GSE8489 41306979 41307508 529 2428
hScc1 BcellGSE12603 41306559 41308072 1513 2356
hScc1 CdLSGSE12603 41307807 41308213 406 1662
p130 SenescentGSE19898 41307845 41308017 172 1741
p130 shRbSenescentGSE19898 41307789 41308118 329 1718
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 41338806 41339049 243 0
FOXA1 MCF7GSE15244 41339238 41339403 165 0
H3K4me2 HCT116GSE10453 41339736 41340052 316 0
H3K4me3 colorectalcancer 41339736 41340052 316 0
H3ac HepG2E 41338806 41339403 597 0
H3ac HepG2E 41339736 41340052 316 0
Myc hESGSE17917 41340340 41340929 589 0
RARA MCF7GSE15244 41330572 41330740 168 0
RARG MCF7GSE15244 41330572 41330740 168 0
TAF k562GSE8489 41339736 41340052 316 0
hScc1 BcellGSE12603 41338806 41339086 280 0
hScc1 CdLSGSE12603 41338806 41339086 280 0
p130 SenescentGSE19898 41340647 41340957 310 0
p130 shRbSenescentGSE19898 41340598 41340995 397 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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