AutismKB 2.0

Annotation Detail for POLH


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Basic Information Top
Gene Symbol:POLH ( FLJ16395,FLJ21978,RAD30,RAD30A,XP-V,XPV )
Gene Full Name: polymerase (DNA directed), eta
Band: 6p21.1
Quick LinksEntrez ID:5429; OMIM: 603968; Uniprot ID:POLH_HUMAN; ENSEMBL ID: ENSG00000170734; HGNC ID: 9181
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
379Phosphoserine.
380Phosphoserine.
Location(AA) Modifications Resource
379Phosphoserine.Swiss-Prot 53.0
380Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
83Phosphoserine(PKG)HMM predict
88N-linkedHMM predict
155O-linkedHMM predict
182N-linkedHMM predict
185Phosphoserine(CDK)HMM predict
185Phosphoserine(MAPK)HMM predict
284Phosphoserine(ATM)HMM predict
353Phosphothreonine(PKC)HMM predict
407N-linkedHMM predict
430O-linkedHMM predict
432O-linkedHMM predict
432O-linkedHMM predict
435Phosphoserine(CK1)HMM predict
435O-linkedHMM predict
438O-linkedHMM predict
441O-linkedHMM predict
442O-linkedHMM predict
446Phosphoserine(ATM)HMM predict
459O-linkedHMM predict
466O-linkedHMM predict
477Phosphothreonine(PKA)HMM predict
500O-linkedHMM predict
500Phosphoserine(CK1)HMM predict
510O-linkedHMM predict
510Phosphoserine(IKK)HMM predict
512Phosphoserine(CDC2)HMM predict
512Phosphoserine(CDK)HMM predict
514Phosphoserine(CK1)HMM predict
545N-linkedHMM predict
546N-linkedHMM predict
550Phosphoserine(CK1)HMM predict
551Phosphoserine(CDC2)HMM predict
612Phosphoserine(IKK)HMM predict
621Phosphothreonine(MAPK)HMM predict
662Phosphoserine(IKK)HMM predict
687Phosphoserine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006502
  • Location:chr6 43651922-43691356
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 43683983 43684252 269 0
CTCF CD4SISSRdata 43683983 43684252 269 0
CTCF G2GSE9613 43657346 43657608 262 0
CTCF G2GSE9613 43684007 43684490 483 0
H3ac HepG2E 43651997 43652546 549 0
H3ac HepG2E 43652909 43653437 528 0
Sox2 hESGSE18292 43684086 43684327 241 0
TAF HelaGSE8489 43652909 43653437 528 0
TAF k562GSE8489 43652909 43653437 528 0
hScc1 BcellGSE12603 43657346 43657573 227 0
hScc1 CdLSGSE12603 43684007 43684454 447 0
p130 shRbSenescentGSE19898 43651822 43652140 318 0
p63 keratinocytesGSE17611 43662114 43662708 594 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