AutismKB 2.0

Annotation Detail for HHATL


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Basic Information Top
Gene Symbol:HHATL ( C3orf3,GUP1,KIAA1173,MBOAT3,MSTP002,OACT3 )
Gene Full Name: hedgehog acyltransferase-like
Band: 3p22.1
Quick LinksEntrez ID:57467; OMIM: 608116; Uniprot ID:HHATL_HUMAN; ENSEMBL ID: ENSG00000010282; HGNC ID: 13242
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 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult62 / 193912131
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma8 / 10688374
head and neck tumor7 / 13630251
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal72 / 336030721
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain71 / 110098964
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye14 / 21105466
heart3 / 8962633
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth5 / 6705274
muscle12 / 107715111
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P255298
  • 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
Amygdala6.83 ± 0.46
Basal Forebrain6.47 ± 0.41
Basal Part of Pons7.05 ± 0.62
Cerebellar Cortex6.41 ± 0.41
Cerebellar Nuclei7.68 ± 0.71
Claustrum6.09 ± 0.54
Epithalamus7.04 ± 0.49
Frontal Lobe6.77 ± 0.5
Globus Pallidus8.15 ± 0.5
Hypothalamus6.39 ± 0.6
Insula6.64 ± 0.42
Limbic Lobe6.3 ± 0.55
Mesencephalon7 ± 0.66
Myelencephalon6.82 ± 0.61
Occipital Lobe6.83 ± 0.42
Parietal Lobe6.91 ± 0.54
Pontine Tegmentum7 ± 0.48
Striatum7.3 ± 0.54
Subthalamus6.76 ± 0.25
Temporal Lobe6.91 ± 0.43
Thalamus7.23 ± 0.45
White Matter8.59 ± 0.22
Mouse Brain ISH
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