AutismKB 2.0

Annotation Detail for HHAT


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Basic Information Top
Gene Symbol:HHAT ( FLJ10724,FLJ34867,MART2,SKI1,Skn )
Gene Full Name: hedgehog acyltransferase
Band: 1q32.2
Quick LinksEntrez ID:55733; OMIM: 605743; Uniprot ID:HHAT_HUMAN; ENSEMBL ID: ENSG00000054392; HGNC ID: 18270
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 body2 / 7076128
blastocyst0 / 623190 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult25 / 193912112
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor10 / 26384537
glioma0 / 1068830 
head and neck tumor4 / 13630229
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal47 / 336030713
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
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 gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain18 / 110098916
cervix0 / 481710 
connective tissue1 / 1492556
ear2 / 16212123
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye0 / 2110540 
heart7 / 8962678
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth1 / 6705214
muscle3 / 10771527
nerve1 / 1576863
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate4 / 18934521
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis9 / 33044227
thymus1 / 8113112
thyroid3 / 4747363
tonsil0 / 169990 
trachea13 / 52413248
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219687_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.9
Adipocyte6
AdrenalCortex6.7
Adrenalgland5.15
Amygdala6
Appendix6.2
AtrioventricularNode7.5
BDCA4+_DentriticCells16.8
Bonemarrow6.15
BronchialEpithelialCells5.8
CD105+_Endothelial5.95
CD14+_Monocytes6.45
CD19+_BCells(neg._sel.)6.35
CD33+_Myeloid7.45
CD34+7.7
CD4+_Tcells7
CD56+_NKCells6.8
CD71+_EarlyErythroid5.65
CD8+_Tcells5.8
CardiacMyocytes8.2
Caudatenucleus5.4
Cerebellum4.85
CerebellumPeduncles7.6
CiliaryGanglion4.55
CingulateCortex6.55
Colorectaladenocarcinoma5.95
DorsalRootGanglion5.6
FetalThyroid5.85
Fetalbrain5.7
Fetalliver5.15
Fetallung4.65
GlobusPallidus4.65
Heart8.15
Hypothalamus6.3
Kidney5.15
Leukemia_chronicMyelogenousK-5625.45
Leukemia_promyelocytic-HL-605.35
Leukemialymphoblastic(MOLT-4)4.8
Liver8.05
Lung6.25
Lymphnode5.2
Lymphoma_burkitts(Daudi)7.75
Lymphoma_burkitts(Raji)8.6
MedullaOblongata5.45
OccipitalLobe5.4
OlfactoryBulb4.75
Ovary4.1
Pancreas4.9
PancreaticIslet6.45
ParietalLobe6.4
Pituitary7
Placenta5.75
Pons5.75
PrefrontalCortex7.15
Prostate7
Salivarygland4.85
SkeletalMuscle7.7
Skin5
SmoothMuscle6.55
Spinalcord6.4
SubthalamicNucleus5.6
SuperiorCervicalGanglion7.55
TemporalLobe5.55
Testis5.05
TestisGermCell4.9
TestisIntersitial5.2
TestisLeydigCell6
TestisSeminiferousTubule5.15
Thalamus7.35
Thymus4.45
Thyroid7.6
Tongue6.85
Tonsil5.85
Trachea5.65
TrigeminalGanglion9.6
Uterus4.7
UterusCorpus5.35
WholeBlood6.4
Wholebrain4.6
colon5.9
pineal_day7.3
pineal_night7.26
retina7.875
small_intestine5.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8250_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
Amygdala2.49 ± 0.96
Basal Forebrain2.22 ± 0.6
Basal Part of Pons2.09 ± 0.81
Cerebellar Cortex1.83 ± 0.75
Cerebellar Nuclei2.38 ± 0.73
Claustrum2.89 ± 0.53
Epithalamus2.65 ± 0.55
Frontal Lobe2.14 ± 0.75
Globus Pallidus2.62 ± 0.48
Hypothalamus2.03 ± 0.7
Insula2.09 ± 0.52
Limbic Lobe2.14 ± 0.72
Mesencephalon2.3 ± 0.7
Myelencephalon2.17 ± 0.72
Occipital Lobe2.21 ± 0.61
Parietal Lobe2.33 ± 0.81
Pontine Tegmentum2.2 ± 0.76
Striatum2.22 ± 0.74
Subthalamus2.37 ± 0.98
Temporal Lobe1.89 ± 0.73
Thalamus2.02 ± 0.62
White Matter2.46 ± 0.62
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
HhatCBCerebellum0.26
0.62
HhatCTXCerebral cortex0.36
0.49
HhatHIPHippocampal region0.32
0.68
HhatHPFHippocampal formation0.25
0.49
HhatHYHypothalamus0.31
0.47
HhatLSXLateral septal complex0.19
0.15
HhatMBMidbrain0.18
0.43
HhatMYMedulla0.28
0.66
HhatOLFOlfactory bulb0.81
1.04
HhatPPons0.6
1.96
HhatPALPallidum0.03
0.02
HhatRHPRetrohippocampal region0.04
0.07
HhatsAMYStriatum-like amygdalar nuclei0.16
0.77
HhatSTRStriatum0.08
0.13
HhatSTRdStriatum dorsal region0.04
0.03
HhatSTRvStriatum ventral region0.09
0.08
HhatTHThalamus0.26
0.66
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


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