AutismKB 2.0

Annotation Detail for TCHH


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Basic Information Top
Gene Symbol:TCHH ( MGC157889,MGC157890,THH,THL,TRHY )
Gene Full Name: trichohyalin
Band: 1q21.3
Quick LinksEntrez ID:7062; OMIM: 190370; Uniprot ID:TRHY_HUMAN; ENSEMBL ID: ENSG00000159450; HGNC ID: 11791
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 
blastocyst0 / 623190 
fetus15 / 56401226
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult212 / 1939121109
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor173 / 1363021269
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal59 / 336030717
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus1 / 2020949
eye0 / 2110540 
heart11 / 89626122
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver1 / 2077434
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth5 / 6705274
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx168 / 413284065
pituitary gland0 / 165850 
placenta42 / 280825149
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213780_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.45
Adipocyte5.5
AdrenalCortex6.3
Adrenalgland4.95
Amygdala5.75
Appendix8.65
AtrioventricularNode5.3
BDCA4+_DentriticCells5.65
Bonemarrow5.75
BronchialEpithelialCells5.4
CD105+_Endothelial5.6
CD14+_Monocytes5.85
CD19+_BCells(neg._sel.)5.85
CD33+_Myeloid6.85
CD34+6.75
CD4+_Tcells5.85
CD56+_NKCells6.3
CD71+_EarlyErythroid5.5
CD8+_Tcells5.2
CardiacMyocytes7.55
Caudatenucleus5
Cerebellum4.5
CerebellumPeduncles6.9
CiliaryGanglion4.35
CingulateCortex5.7
Colorectaladenocarcinoma5.6
DorsalRootGanglion4.6
FetalThyroid5.35
Fetalbrain5.45
Fetalliver4.85
Fetallung4.4
GlobusPallidus4.3
Heart7.7
Hypothalamus5.95
Kidney4.8
Leukemia_chronicMyelogenousK-5625
Leukemia_promyelocytic-HL-604.9
Leukemialymphoblastic(MOLT-4)4.45
Liver7.75
Lung6.05
Lymphnode4.7
Lymphoma_burkitts(Daudi)7.3
Lymphoma_burkitts(Raji)8
MedullaOblongata5.05
OccipitalLobe4.95
OlfactoryBulb4.5
Ovary3.95
Pancreas4.6
PancreaticIslet5.95
ParietalLobe6.05
Pituitary6.5
Placenta109.35
Pons5.6
PrefrontalCortex6.8
Prostate6.4
Salivarygland4.55
SkeletalMuscle7.45
Skin5.65
SmoothMuscle6.2
Spinalcord5.9
SubthalamicNucleus5.1
SuperiorCervicalGanglion11.85
TemporalLobe5.1
Testis4.7
TestisGermCell4.6
TestisIntersitial4.7
TestisLeydigCell5.7
TestisSeminiferousTubule4.8
Thalamus5.7
Thymus4.3
Thyroid6.7
Tongue6.3
Tonsil5.4
Trachea4.65
TrigeminalGanglion6.8
Uterus4.4
UterusCorpus5.15
WholeBlood6.05
Wholebrain4.6
colon5.6
pineal_day6.8
pineal_night6.7
retina6.725
small_intestine5.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P98072
  • 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
Amygdala3.78 ± 0.91
Basal Forebrain3.21 ± 0.36
Basal Part of Pons4.47 ± 0.34
Cerebellar Cortex3.13 ± 0.55
Cerebellar Nuclei4.31 ± 0.47
Claustrum4.22 ± 0.87
Epithalamus3.84 ± 0.94
Frontal Lobe3.78 ± 0.74
Globus Pallidus3.41 ± 1.35
Hypothalamus4.38 ± 0.66
Insula3.54 ± 0.5
Limbic Lobe3.33 ± 0.78
Mesencephalon3.87 ± 0.82
Myelencephalon3.9 ± 0.76
Occipital Lobe4.36 ± 0.56
Parietal Lobe4.37 ± 0.61
Pontine Tegmentum3.77 ± 0.83
Striatum4.02 ± 0.74
Subthalamus4.19 ± 0.37
Temporal Lobe3.75 ± 0.7
Thalamus3.82 ± 0.69
White Matter2.31 ± 0.86
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00136083 12 1927 1938 SSPLYEYIQEQR Peptide Atlas
TRHY_HUMAN_1430 7 1430 1436 EEQQLHR PRIDE
TRHY_HUMAN_270 10 270 279 ELQEEEEQLR PRIDE

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