AutismKB 2.0

Annotation Detail for MTPAP


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Basic Information Top
Gene Symbol:MTPAP ( FLJ10486,PAPD1 )
Gene Full Name: mitochondrial poly(A) polymerase
Band: 10p11.23
Quick LinksEntrez ID:55149; OMIM: NA; Uniprot ID:PAPD1_HUMAN; ENSEMBL ID: ENSG00000107951; HGNC ID: 25532
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
90N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
20Phosphothreonine(PKA)HMM predict
20Phosphothreonine(PKC)HMM predict
49Phosphoserine(CK1)HMM predict
49Phosphoserine(ATM)HMM predict
129N-linkedHMM predict
133Phosphothreonine(MAPK)HMM predict
135O-linkedHMM predict
135O-linkedHMM predict
136O-linkedHMM predict
155N-linkedHMM predict
208Phosphotyrosine(Jak)HMM predict
255N-linkedHMM predict
281Phosphothreonine(PKC)HMM predict
365Phosphoserine(IKK)HMM predict
365Phosphoserine(CK1)HMM predict
365Phosphoserine(CAMK2)HMM predict
418N-linkedHMM predict
475SulfotyrosineHMM predict
489N-linkedHMM predict
491Phosphoserine(CAMK2)HMM predict
493Phosphoserine(ATM)HMM predict
518Phosphoserine(IKK)HMM predict
540Phosphoserine(PKA)HMM predict
542Phosphothreonine(PKC)HMM predict
564N-linkedHMM predict
568N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018109
  • Location:chr10 30641764-30678253
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 30688589 30688948 359 10515
CTCF CD4SISSRdata 30688589 30688948 359 10515
RARG MCF7GSE15244 30685954 30686184 230 7816
RARG MCF7GSE15244 30688749 30689390 641 10816
STAT1 IFNSISSRdata 30688331 30689180 849 10502
TFAP2C MCF7GSE21234 30693854 30694617 763 15982
hScc1 BcellGSE12603 30688327 30689312 985 10566
hScc1 BcellGSE12603 30693547 30694290 743 15665
hScc1 BcellGSE12603 30694896 30695890 994 17140
hScc1 BcellGSE12603 30697196 30697768 572 19229
hScc1 CdLSGSE12603 30688543 30689390 847 10713
hScc1 CdLSGSE12603 30695533 30695890 357 17458
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 30638264 30638689 425 3288
FoxA1 MCF7MACSdata 30638313 30638583 270 3317
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 30677591 30678710 1119 0
H3K4me2 HCT116GSE10453 30677266 30677990 724 0
H3K4me3 colorectalcancer 30676996 30677920 924 0
H3ac HepG2E 30676996 30678481 1485 0
P300 T0-glioblastomaGSE21026 30677808 30678533 725 0
P300 T30-glioblastomaGSE21026 30677619 30678819 1200 0
PHF8 293TGSE20725 30677479 30678546 1067 0
RARA MCF7GSE15244 30677453 30678481 1028 0
RARG MCF7GSE15244 30677523 30678481 958 0
TAF HelaGSE8489 30677453 30677855 402 0
TAF k562GSE8489 30676996 30678067 1071 0
USF1 HepG2E 30677523 30678026 503 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