AutismKB 2.0

Annotation Detail for PAH


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Basic Information Top
Gene Symbol:PAH ( PH,PKU,PKU1 )
Gene Full Name: phenylalanine hydroxylase
Band: 12q23.2
Quick LinksEntrez ID:5053; OMIM: 612349; Uniprot ID:PH4H_HUMAN; ENSEMBL ID: ENSG00000171759; HGNC ID: 8582
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
16Phosphoserine; by PKA (By similarity).
Location(AA) Modifications Resource
16Phosphoserine (by PKA) (By similarity).Swiss-Prot 53.0
16Phosphoserine (PKA
Location(AA) Modification Resource
16Phosphoserine(PKA)HMM predict
61N-linkedHMM predict
77Phosphotyrosine(EGFR)HMM predict
154PhosphotyrosineHMM predict
303Phosphoserine(ATM)HMM predict
317Phosphotyrosine(EGFR)HMM predict
376N-linkedHMM predict
377Phosphotyrosine(Jak)HMM predict
378O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000277
  • Location:chr12 101756234-101835510
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 101854599 101854626 27 19102
Oct1 HelaGSE14283 101843439 101843469 30 7944
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 101742256 101742512 256 13851
NRSF JurkatGSE13047 101742207 101743231 1024 13516
NRSF JurkatGSE13047 101752082 101752505 423 3941
NRSF JurkatSISSRdata 101742207 101742775 568 13744
NRSF JurkatSISSRdata 101752076 101752290 214 4052
NRSF mAbJurkat 101741392 101743916 2524 13581
NRSF mAbJurkat 101752107 101753352 1245 3505
NRSF-mono JurkatQuESTdata 101742063 101742843 780 13782
NRSF-mono JurkatQuESTdata 101743030 101743204 174 13118
NRSF-mono JurkatQuESTdata 101752087 101752498 411 3942
NRSF-poly JurkatQuESTdata 101742148 101743220 1072 13551
NRSF-poly JurkatQuESTdata 101751929 101752500 571 4020
Oct4 ESGSE20650 101753395 101753943 548 2566
Oct4 hESGSE17917 101742419 101742749 330 13651
TAF HelaGSE8489 101752107 101752336 229 4013
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 101801210 101801407 197 0
CTCF CD4SISSRdata 101801210 101801407 197 0
CTCF HelaGSE12889 101801164 101801386 222 0
CTCF JurkatGSE12889 101801064 101801390 326 0
CTCF G2GSE9613 101762968 101763177 209 0
CTCF G2GSE9613 101766009 101767180 1171 0
CTCF G2GSE9613 101770627 101770877 250 0
CTCF G2GSE9613 101792706 101793109 403 0
CTCF G2GSE9613 101794487 101794913 426 0
CTCF G2GSE9613 101796863 101798044 1181 0
CTCF G2GSE9613 101800995 101801649 654 0
CTCF G2GSE9613 101802625 101803100 475 0
CTCF G2GSE9613 101813814 101814325 511 0
CTCF G2GSE9613 101835123 101835447 324 0
ER E2-MCF7GSE14664 101823344 101823376 32 0
FOXA1 DLD1GSE12801 101816849 101817372 523 0
H3ac HepG2E 101832153 101835052 2899 0
Oct1 H2O2-HelaGSE14283 101783951 101783999 48 0
Oct1 H2O2-HelaGSE14283 101800530 101800566 36 0
Oct1 HelaGSE14283 101783951 101783999 48 0
Oct1 HelaGSE14283 101800528 101800612 84 0
Oct1 HelaGSE14283 101826162 101826203 41 0
STAT1 IFNSISSRdata 101801119 101801545 426 0
TFAP2C MCF7GSE21234 101832628 101832992 364 0
USF2 HepG2E 101816903 101817372 469 0
hScc1 BcellGSE12603 101766170 101766587 417 0
hScc1 BcellGSE12603 101801032 101801613 581 0
hScc1 CdLSGSE12603 101796863 101797485 622 0
hScc1 CdLSGSE12603 101800995 101801649 654 0
hScc1 G2GSE9613 101766274 101767078 804 0
hScc1 G2GSE9613 101796895 101798044 1149 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7a hsa-let-7a-1 9 20110569
hsa-let-7a hsa-let-7a-2 11 20110569
hsa-let-7a hsa-let-7a-3 22 20110569
hsa-let-7f hsa-let-7f-1 9 20110569
hsa-let-7f hsa-let-7f-2 X 20110569
hsa-miR-21 hsa-mir-21 17 20110569
hsa-miR-21* hsa-mir-21 17 20110569
hsa-miR-22 hsa-mir-22 17 20110569
hsa-miR-22* hsa-mir-22 17 20110569
hsa-miR-30a hsa-mir-30a 6 20110569
hsa-miR-30a* hsa-mir-30a 6 20110569
hsa-miR-30b hsa-mir-30b 8 20110569
hsa-miR-30b* hsa-mir-30b 8 20110569
hsa-miR-30c hsa-mir-30c-2 6 20110569
hsa-miR-30c hsa-mir-30c-1 1 20110569
hsa-miR-30c-1* hsa-mir-30c-1 1 20110569
hsa-miR-30c-2* hsa-mir-30c-2 6 20110569
hsa-miR-30d hsa-mir-30d 8 20110569
hsa-miR-30d* hsa-mir-30d 8 20110569
hsa-miR-30e hsa-mir-30e 1 20110569
hsa-miR-30e* hsa-mir-30e 1 20110569
hsa-miR-451 hsa-mir-451 17 20110569
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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