AutismKB 2.0

Annotation Detail for TMLHE


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Basic Information Top
Gene Symbol:TMLHE ( BBOX2,FLJ10727,TMLD,TMLH,XAP130 )
Gene Full Name: trimethyllysine hydroxylase, epsilon
Band: Xq28
Quick LinksEntrez ID:55217; OMIM: 300777; Uniprot ID:TMLH_HUMAN; ENSEMBL ID: ENSG00000185973; HGNC ID: 18308
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
236N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
73SulfotyrosineHMM predict
94Phosphoserine(CAMK2)HMM predict
137Phosphoserine(PKG)HMM predict
217Phosphotyrosine(SRC)HMM predict
234Phosphotyrosine(INSR)HMM predict
247SulfotyrosineHMM predict
346Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018196
  • Location:chrX 154372966-154495790
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 G2GSE9613 154362686 154362839 153 10204
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 154495366 154495665 299 0
ER E2-MCF7GSE14664 154490036 154490074 38 0
ER Fulvestrant-MCF7GSE14664 154490034 154490068 34 0
H3K4me3 colorectalcancer 154494896 154495401 505 0
H3ac HepG2E 154494860 154495665 805 0
NRSF mAbJurkat 154494579 154495437 858 0
Oct1 H2O2-HelaGSE14283 154431230 154431274 44 0
Oct1 HelaGSE14283 154388851 154388888 37 0
Oct1 HelaGSE14283 154407120 154407147 27 0
Oct1 HelaGSE14283 154431232 154431276 44 0
Oct1 HelaGSE14283 154463513 154463547 34 0
Oct1 HelaGSE14283 154490035 154490075 40 0
Oct1 HelaGSE14283 154491432 154491468 36 0
PHF8 293TGSE20725 154495202 154496134 932 0
PHF8 HeLaGSE20725 154495204 154496146 942 0
PHF8 Hs68minusFBSGSE20725 154495100 154495806 706 0
PHF8 Hs68plusFBSGSE20725 154494860 154496173 1313 0
RARA MCF7GSE15244 154494860 154495401 541 0
TAF HelaGSE8489 154494542 154495476 934 0
TAF k562GSE8489 154494471 154495551 1080 0
hScc1 BcellGSE12603 154495401 154495978 577 0
hScc1 G2GSE9613 154495137 154495665 528 0
p130 QuiescentGSE19898 154495162 154495593 431 0
p130 shRbQuiescentGSE19898 154495044 154495784 740 0
p130 shRbSenescentGSE19898 154495576 154495871 295 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
28355 mRNA chrX 154303193 154303572 379 mRNA TMLHE chrX 154283476 154406301 Non-exonic Bidirectional (NOB) pairs

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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