AutismKB 2.0

Annotation Detail for ASPHD1


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Basic Information Top
Gene Symbol:ASPHD1 ( - )
Gene Full Name: aspartate beta-hydroxylase domain containing 1
Band: 16p11.2
Quick LinksEntrez ID:253982; OMIM: NA; Uniprot ID:ASPH1_HUMAN; ENSEMBL ID: ENSG00000174939; HGNC ID: 27380
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
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma11 / 106883102
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal15 / 33603074
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor5 / 12494940
soft tissue/muscle tissue tumor1 / 1251917
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 
bone1 / 7165513
bone marrow0 / 488010 
brain18 / 110098916
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214993_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.4
Adipocyte13.15
AdrenalCortex29.85
Adrenalgland12.65
Amygdala22.5
Appendix13.15
AtrioventricularNode14.95
BDCA4+_DentriticCells10.95
Bonemarrow19.4
BronchialEpithelialCells12.3
CD105+_Endothelial13
CD14+_Monocytes14.7
CD19+_BCells(neg._sel.)12.9
CD33+_Myeloid14.65
CD34+15.55
CD4+_Tcells12.7
CD56+_NKCells13.4
CD71+_EarlyErythroid37.15
CD8+_Tcells10.3
CardiacMyocytes22.7
Caudatenucleus20.7
Cerebellum22.4
CerebellumPeduncles35.05
CiliaryGanglion20.85
CingulateCortex18.55
Colorectaladenocarcinoma21.5
DorsalRootGanglion13.35
FetalThyroid12.6
Fetalbrain27.35
Fetalliver11.4
Fetallung8.85
GlobusPallidus54.65
Heart22.15
Hypothalamus30.35
Kidney10.8
Leukemia_chronicMyelogenousK-56212.2
Leukemia_promyelocytic-HL-6011.5
Leukemialymphoblastic(MOLT-4)10.15
Liver21.85
Lung13.95
Lymphnode10.65
Lymphoma_burkitts(Daudi)17.25
Lymphoma_burkitts(Raji)21
MedullaOblongata23.15
OccipitalLobe22.25
OlfactoryBulb10.5
Ovary8.9
Pancreas12.8
PancreaticIslet22.4
ParietalLobe52.05
Pituitary16.45
Placenta11.85
Pons19.05
PrefrontalCortex27.4
Prostate14.15
Salivarygland11.15
SkeletalMuscle28.1
Skin12.1
SmoothMuscle13.65
Spinalcord39.45
SubthalamicNucleus28
SuperiorCervicalGanglion24.7
TemporalLobe34.85
Testis10.75
TestisGermCell10.05
TestisIntersitial12.6
TestisLeydigCell12.5
TestisSeminiferousTubule11.15
Thalamus32.65
Thymus8.95
Thyroid14.2
Tongue18.3
Tonsil12.85
Trachea10.1
TrigeminalGanglion19.25
Uterus10.75
UterusCorpus18.35
WholeBlood13.8
Wholebrain19.65
colon12.25
pineal_day19.8
pineal_night24.32
retina16.025
small_intestine11.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1436_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
Amygdala10.09 ± 0.69
Basal Forebrain10.2 ± 0.21
Basal Part of Pons10.8 ± 0.41
Cerebellar Cortex10.05 ± 0.45
Cerebellar Nuclei10.49 ± 0.52
Claustrum9.66 ± 0.73
Epithalamus9.18 ± 0.68
Frontal Lobe10.48 ± 0.45
Globus Pallidus10.86 ± 0.43
Hypothalamus9.79 ± 0.33
Insula10.33 ± 0.38
Limbic Lobe10.32 ± 0.62
Mesencephalon10.13 ± 0.49
Myelencephalon10.26 ± 0.61
Occipital Lobe9.78 ± 0.58
Parietal Lobe10.37 ± 0.45
Pontine Tegmentum10.24 ± 0.43
Striatum10.81 ± 0.43
Subthalamus10.63 ± 0.39
Temporal Lobe10.48 ± 0.4
Thalamus10.19 ± 0.33
White Matter10.3 ± 0.15
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


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