AutismKB 2.0

Annotation Detail for HACE1


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Basic Information Top
Gene Symbol:HACE1 ( - )
Gene Full Name: HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1
Band: 6q16.3
Quick LinksEntrez ID:57531; OMIM: 610876; Uniprot ID:HACE1_HUMAN; ENSEMBL ID: ENSG00000085382; HGNC ID: 21033
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 body1 / 7076114
blastocyst1 / 6231916
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult32 / 193912116
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal57 / 336030716
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor2 / 12519115
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 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain36 / 110098932
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye2 / 2110549
heart1 / 8962611
intestine2 / 2344728
kidney4 / 21177718
larynx0 / 241450 
liver2 / 2077439
lung2 / 3369745
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta12 / 28082542
prostate0 / 1893450 
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis8 / 33044224
thymus4 / 8113149
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10955_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
Amygdala7.37 ± 0.18
Basal Forebrain7.12 ± 0.19
Basal Part of Pons7.21 ± 0.22
Cerebellar Cortex7.12 ± 0.3
Cerebellar Nuclei7.24 ± 0.23
Claustrum7.49 ± 0.32
Epithalamus6.94 ± 0.29
Frontal Lobe7.12 ± 0.29
Globus Pallidus6.83 ± 0.15
Hypothalamus7.17 ± 0.2
Insula7.11 ± 0.29
Limbic Lobe7.23 ± 0.33
Mesencephalon7.18 ± 0.28
Myelencephalon7.19 ± 0.29
Occipital Lobe7.47 ± 0.22
Parietal Lobe7.34 ± 0.28
Pontine Tegmentum7.22 ± 0.37
Striatum7.38 ± 0.32
Subthalamus8.01 ± 0.03
Temporal Lobe7.19 ± 0.27
Thalamus7.14 ± 0.25
White Matter7.18 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hace1CBCerebellum6.93
6.78
Hace1CTXCerebral cortex81.07
66.01
Hace1HIPHippocampal region39.26
51.68
Hace1HPFHippocampal formation41.95
46.45
Hace1HYHypothalamus7.32
5.73
Hace1LSXLateral septal complex34.58
28
Hace1MBMidbrain13.28
12.37
Hace1MYMedulla21.58
21.4
Hace1OLFOlfactory bulb54.5
48.46
Hace1PPons17.45
15.99
Hace1PALPallidum12.44
10.11
Hace1RHPRetrohippocampal region48.51
39.86
Hace1sAMYStriatum-like amygdalar nuclei29.63
19.86
Hace1STRStriatum46.54
32.74
Hace1STRdStriatum dorsal region52.97
37.85
Hace1STRvStriatum ventral region41.42
26.51
Hace1THThalamus10.29
8.29
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