AutismKB 2.0

Annotation Detail for POLRMT


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Basic Information Top
Gene Symbol:POLRMT ( APOLMT,MTRNAP,MTRPOL,h-mtRPOL )
Gene Full Name: polymerase (RNA) mitochondrial (DNA directed)
Band: 19p13.3
Quick LinksEntrez ID:5442; OMIM: 601778; Uniprot ID:RPOM_HUMAN; ENSEMBL ID: ENSG00000099821; HGNC ID: 9200
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
115Phosphothreonine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
41Phosphoserine(PKA)HMM predict
41O-linkedHMM predict
42Phosphoserine(IKK)HMM predict
42Phosphoserine(PKG)HMM predict
42Phosphoserine(PKA)HMM predict
42O-linkedHMM predict
42Phosphoserine(PKA)HMM predict
43O-linkedHMM predict
43Phosphoserine(PKA)HMM predict
43Phosphoserine(PKB)HMM predict
43Phosphoserine(IKK)HMM predict
43Phosphoserine(PKG)HMM predict
45Phosphoserine(CDC2)HMM predict
45Phosphoserine(IKK)HMM predict
96Phosphoserine(IKK)HMM predict
132Phosphothreonine(PKA)HMM predict
150Phosphoserine(CDK)HMM predict
203Phosphoserine(PKG)HMM predict
211Phosphoserine(ATM)HMM predict
215O-linkedHMM predict
215Phosphoserine(CAMK2)HMM predict
215Phosphoserine(IKK)HMM predict
293Phosphothreonine(MAPK)HMM predict
378Phosphotyrosine(Syk)HMM predict
421Phosphothreonine(PKC)HMM predict
433Phosphothreonine(PKC)HMM predict
461Phosphotyrosine(Syk)HMM predict
520Phosphoserine(PKG)HMM predict
627Phosphotyrosine(Jak)HMM predict
666Phosphoserine(CDC2)HMM predict
736O-linkedHMM predict
806Phosphothreonine(PKC)HMM predict
807Phosphotyrosine(EGFR)HMM predict
847N-linkedHMM predict
894Phosphothreonine(PKC)HMM predict
956Phosphotyrosine(Syk)HMM predict
1112Phosphothreonine(PKC)HMM predict
1227TyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005035
  • Location:chr19 568222-584567
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 584365 585034 669 132
NRSF JurkatSISSRdata 584486 584664 178 8
P300 T30-glioblastomaGSE21026 583977 585243 1266 43
Rb SenescentGSE19898 584532 584769 237 83
p130 QuiescentGSE19898 584584 584903 319 176
p130 SenescentGSE19898 584583 584909 326 179
p130 shRbSenescentGSE19898 584471 585036 565 186
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 574850 575623 773 0
CTCF CD4GSE12889 579301 579483 182 0
CTCF CD4SISSRdata 579301 579483 182 0
CTCF HelaGSE12889 579204 579440 236 0
CTCF G2GSE9613 569575 570193 618 0
CTCF G2GSE9613 570850 571285 435 0
CTCF G2GSE9613 574123 574330 207 0
CTCF G2GSE9613 579252 579638 386 0
CTCF G2GSE9613 583272 583667 395 0
ER MCF7GSE19013 568252 568890 638 0
ETS1 JurkatGSE17954 583663 585281 1618 0
HIF1 HypoHepG2 584257 584755 498 0
HIF1 NormHepG2 584334 584755 421 0
P300 T30-glioblastomaGSE21026 574719 575500 781 0
PHF8 293TGSE20725 583680 584930 1250 0
TFAP2C MCF7GSE21234 568089 568849 760 0
hScc1 BcellGSE12603 570449 570672 223 0
hScc1 BcellGSE12603 572135 572744 609 0
hScc1 BcellGSE12603 574084 574700 616 0
hScc1 BcellGSE12603 575424 575593 169 0
hScc1 BcellGSE12603 580950 581796 846 0
hScc1 BcellGSE12603 583272 583592 320 0
hScc1 BcellGSE12603 584334 584755 421 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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