AutismKB 2.0

Annotation Detail for TH


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Basic Information Top
Gene Symbol:TH ( DYT14,DYT5b,TYH )
Gene Full Name: tyrosine hydroxylase
Band: 11p15.5
Quick LinksEntrez ID:7054; OMIM: 191290; Uniprot ID:TY3H_HUMAN; ENSEMBL ID: ENSG00000180176; HGNC ID: 11782
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
19Phosphoserine (By similarity).
62Phosphoserine (By similarity).
71Phosphoserine; by PKA (By similarity).
Location(AA) Modifications Resource
18Phosphoserine (MAPKAPK2;CaM)Phospho.ELM 6.0
19Phosphoserine (By similarity).Swiss-Prot 53.0
39Phosphoserine (MAPKAPK2;PKA)Phospho.ELM 6.0
62Phosphoserine (By similarity).Swiss-Prot 53.0
70Phosphoserine (PKA
71Phosphoserine (by PKA) (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
7O-linkedHMM predict
8Phosphothreonine(CDC2)HMM predict
8Phosphothreonine(MAPK)HMM predict
19Phosphoserine(PKG)HMM predict
40O-linkedHMM predict
42O-linkedHMM predict
44O-linkedHMM predict
55O-linkedHMM predict
57O-linkedHMM predict
57Phosphothreonine(MAPK)HMM predict
57Phosphothreonine(CDK)HMM predict
59O-linkedHMM predict
59Phosphothreonine(CDC2)HMM predict
59O-linkedHMM predict
62Phosphoserine(CDC2)HMM predict
71Phosphoserine(CAMK2)HMM predict
71Phosphoserine(PKG)HMM predict
71Phosphoserine(PKC)HMM predict
71Phosphoserine(PKA)HMM predict
71PhosphoserineHMM predict
118Phosphoserine(CDC2)HMM predict
122Phosphothreonine(PKC)HMM predict
153MethylarginineHMM predict
188Phosphoserine(CDC2)HMM predict
202Phosphoserine(PKG)HMM predict
354Phosphoserine(ATM)HMM predict
354Phosphoserine(MAPK)HMM predict
379Phosphoserine(ATM)HMM predict
390Phosphoserine(CK2)HMM predict
390Phosphoserine(ATM)HMM predict
458Phosphotyrosine(EGFR)HMM predict
458Phosphotyrosine(Syk)HMM predict
469Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000360
  • Location:chr11 2141735-2149610
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 2164579 2164754 175 15056
CTCF CD4SISSRdata 2164579 2164754 175 15056
CTCF JurkatGSE12889 2164548 2164746 198 15037
NRSF pAbJurkat 2150360 2151020 660 1080
NRSF pAbJurkat 2155137 2156240 1103 6078
NRSF pAbJurkat 2159717 2160870 1153 10683
NRSF pAbJurkat 2165861 2166038 177 16339
TAF HelaGSE8489 2165861 2166038 177 16339
TFAP2C MCF7GSE21234 2156555 2157340 785 7337
TFAP2C MCF7GSE21234 2162993 2163581 588 13677
TFAP2C MCF7GSE21234 2168260 2169315 1055 19177
hScc1 BcellGSE12603 2151055 2152055 1000 1945
hScc1 BcellGSE12603 2153561 2153961 400 4151
hScc1 BcellGSE12603 2159930 2160645 715 10677
hScc1 G2GSE9613 2163769 2164950 1181 14749
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 2140749 2141221 472 751
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 2143973 2144164 191 0
CTCF CD4SISSRdata 2143973 2144164 191 0
ER MCF7GSE19013 2142972 2143477 505 0
ER MCF7GSE19013 2146566 2147738 1172 0
NRSF pAbJurkat 2146548 2147139 591 0
TFAP2C MCF7GSE21234 2142882 2143491 609 0
TFAP2C MCF7GSE21234 2146531 2147786 1255 0
hScc1 BcellGSE12603 2143961 2144749 788 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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