AutismKB 2.0

Annotation Detail for ACER2


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Basic Information Top
Gene Symbol:ACER2 ( ALKCDase2,ASAH3L,FLJ41587 )
Gene Full Name: alkaline ceramidase 2
Band: 9p22.1
Quick LinksEntrez ID:340485; OMIM: 613492; Uniprot ID:ACER2_HUMAN; ENSEMBL ID: ENSG00000177076; HGNC ID: 23675
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 
blastocyst1 / 6231916
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult10 / 19391215
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 tumor1 / 1193698
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal13 / 33603073
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 tumor0 / 902570 
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 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth3 / 6705244
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1266_PI416573500
  • 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
Amygdala4.92 ± 0.72
Basal Forebrain4.38 ± 0.52
Basal Part of Pons4.32 ± 0.65
Cerebellar Cortex4.42 ± 0.44
Cerebellar Nuclei4.24 ± 0.5
Claustrum4.92 ± 0.74
Epithalamus4.01 ± 0.51
Frontal Lobe4.62 ± 0.64
Globus Pallidus4.93 ± 0.48
Hypothalamus4.6 ± 0.5
Insula4.83 ± 0.65
Limbic Lobe4.8 ± 0.75
Mesencephalon4.71 ± 0.66
Myelencephalon4.71 ± 0.58
Occipital Lobe4.74 ± 0.54
Parietal Lobe4.81 ± 0.61
Pontine Tegmentum4.63 ± 0.62
Striatum4.5 ± 0.66
Subthalamus3.93 ± 0.37
Temporal Lobe4.85 ± 0.6
Thalamus4.81 ± 0.51
White Matter5.36 ± 0.62
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Asah3lCBCerebellum8.3
9.21
Asah3lCTXCerebral cortex3.67
2.9
Asah3lHIPHippocampal region2.47
2.51
Asah3lHPFHippocampal formation3
2.95
Asah3lHYHypothalamus1.73
1.35
Asah3lLSXLateral septal complex2.9
2.5
Asah3lMBMidbrain3.39
3.52
Asah3lMYMedulla6.26
6.46
Asah3lOLFOlfactory bulb6.67
5.06
Asah3lPPons4.36
4.31
Asah3lPALPallidum3.73
3.68
Asah3lRHPRetrohippocampal region3.84
3.41
Asah3lsAMYStriatum-like amygdalar nuclei2.73
2.3
Asah3lSTRStriatum2.16
1.82
Asah3lSTRdStriatum dorsal region2.06
1.77
Asah3lSTRvStriatum ventral region1.77
1.31
Asah3lTHThalamus4.45
3.75
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