AutismKB 2.0

Annotation Detail for ASPHD2


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Basic Information Top
Gene Symbol:ASPHD2 ( FLJ39838 )
Gene Full Name: aspartate beta-hydroxylase domain containing 2
Band: 22q12.1
Quick LinksEntrez ID:57168; OMIM: NA; Uniprot ID:ASPH2_HUMAN; ENSEMBL ID: ENSG00000128203; HGNC ID: 30437
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 
juvenile2 / 5555635
adult24 / 193912112
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 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma5 / 7175569
non-neoplasia1 / 9725010
normal58 / 336030717
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS3 / 12568023
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
bone1 / 7165513
bone marrow0 / 488010 
brain18 / 110098916
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye12 / 21105456
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung2 / 3369745
lymph0 / 442700 
lymph node1 / 9161010
mammary gland0 / 1532710 
mouth1 / 6705214
muscle0 / 1077150 
nerve1 / 1576863
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen3 / 5395255
stomach1 / 9661910
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
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_24_P245815
  • 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
Amygdala5.74 ± 0.64
Basal Forebrain5.46 ± 0.81
Basal Part of Pons5.09 ± 0.72
Cerebellar Cortex6.14 ± 0.32
Cerebellar Nuclei4.79 ± 0.66
Claustrum5.76 ± 0.82
Epithalamus5.29 ± 0.5
Frontal Lobe5.75 ± 0.69
Globus Pallidus3.16 ± 0.74
Hypothalamus5.81 ± 0.49
Insula6.25 ± 0.38
Limbic Lobe5.72 ± 0.88
Mesencephalon5.48 ± 0.7
Myelencephalon5.42 ± 0.76
Occipital Lobe4.88 ± 0.87
Parietal Lobe5.45 ± 0.6
Pontine Tegmentum5.68 ± 0.8
Striatum5.63 ± 0.78
Subthalamus5.49 ± 0.61
Temporal Lobe6.07 ± 0.63
Thalamus5.1 ± 0.6
White Matter3.35 ± 0.89
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