AutismKB 2.0

Annotation Detail for TMLHE


View Evidences View Variants View Annotations
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
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst2 / 6231932
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult38 / 193912119
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma3 / 7175541
non-neoplasia2 / 9725020
normal46 / 336030713
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood4 / 12347832
bone1 / 7165513
bone marrow2 / 4880140
brain20 / 110098918
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine2 / 2344728
kidney4 / 21177718
larynx0 / 241450 
liver1 / 2077434
lung2 / 3369745
lymph2 / 4427045
lymph node0 / 916100 
mammary gland2 / 15327113
mouth1 / 6705214
muscle3 / 10771527
nerve0 / 157680 
ovary3 / 10205129
pancreas2 / 2148129
parathyroid3 / 20539146
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta5 / 28082517
prostate2 / 18934510
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach1 / 9661910
testis2 / 3304426
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218790_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.4
Adipocyte4.4
AdrenalCortex4.8
Adrenalgland3.8
Amygdala4.65
Appendix4.75
AtrioventricularNode3.6
BDCA4+_DentriticCells4.85
Bonemarrow4.45
BronchialEpithelialCells4.4
CD105+_Endothelial4.5
CD14+_Monocytes4.75
CD19+_BCells(neg._sel.)4.65
CD33+_Myeloid5.7
CD34+5.6
CD4+_Tcells4.7
CD56+_NKCells5.2
CD71+_EarlyErythroid4.2
CD8+_Tcells4.2
CardiacMyocytes5.75
Caudatenucleus4
Cerebellum3.6
CerebellumPeduncles5.05
CiliaryGanglion3.25
CingulateCortex4.6
Colorectaladenocarcinoma4.45
DorsalRootGanglion3.5
FetalThyroid4.3
Fetalbrain4.4
Fetalliver3.85
Fetallung3.65
GlobusPallidus3.3
Heart5.7
Hypothalamus4.9
Kidney3.7
Leukemia_chronicMyelogenousK-5624
Leukemia_promyelocytic-HL-603.9
Leukemialymphoblastic(MOLT-4)3.65
Liver6
Lung4.8
Lymphnode3.8
Lymphoma_burkitts(Daudi)5.7
Lymphoma_burkitts(Raji)6.35
MedullaOblongata4.1
OccipitalLobe4
OlfactoryBulb3.55
Ovary3
Pancreas3.6
PancreaticIslet4.75
ParietalLobe4.8
Pituitary5.2
Placenta4.6
Pons4.2
PrefrontalCortex5.6
Prostate5.2
Salivarygland3.6
SkeletalMuscle5.45
Skin3.55
SmoothMuscle5
Spinalcord4.75
SubthalamicNucleus4.05
SuperiorCervicalGanglion5.25
TemporalLobe4.05
Testis3.8
TestisGermCell3.75
TestisIntersitial3.75
TestisLeydigCell4.4
TestisSeminiferousTubule3.8
Thalamus4.55
Thymus3.45
Thyroid5.5
Tongue4.4
Tonsil4.35
Trachea3.7
TrigeminalGanglion4.65
Uterus3.65
UterusCorpus4.05
WholeBlood4.85
Wholebrain3.7
colon4.45
pineal_day5.52
pineal_night5.36
retina5.35
small_intestine4.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4478_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala4.45 ± 0.4
Basal Forebrain3.99 ± 0.55
Basal Part of Pons4.17 ± 0.51
Cerebellar Cortex4.36 ± 0.43
Cerebellar Nuclei4.39 ± 0.29
Claustrum3.82 ± 0.61
Epithalamus3.98 ± 0.25
Frontal Lobe4.19 ± 0.42
Globus Pallidus4.46 ± 0.56
Hypothalamus4.24 ± 0.57
Insula3.97 ± 0.74
Limbic Lobe4.21 ± 0.46
Mesencephalon4.22 ± 0.57
Myelencephalon4.21 ± 0.48
Occipital Lobe4.49 ± 0.54
Parietal Lobe4.2 ± 0.44
Pontine Tegmentum4.39 ± 0.51
Striatum4.28 ± 0.49
Subthalamus4.26 ± 0.48
Temporal Lobe4.11 ± 0.51
Thalamus4.22 ± 0.43
White Matter4.27 ± 0.4
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
TmlheCBCerebellum22.27
30.91
TmlheCTXCerebral cortex38.28
27.47
TmlheHIPHippocampal region38.89
41.69
TmlheHPFHippocampal formation43.03
41.87
TmlheHYHypothalamus29.06
22.92
TmlheLSXLateral septal complex12.73
10.79
TmlheMBMidbrain22.1
18.02
TmlheMYMedulla37.25
43.05
TmlheOLFOlfactory bulb55.57
45.14
TmlhePPons36.71
38.88
TmlhePALPallidum24.64
20.56
TmlheRHPRetrohippocampal region49.81
42.14
TmlhesAMYStriatum-like amygdalar nuclei42
31.42
TmlheSTRStriatum27.99
20.09
TmlheSTRdStriatum dorsal region23.05
15.41
TmlheSTRvStriatum ventral region43.06
31.78
TmlheTHThalamus26.21
19.69
Peptide 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved