AutismKB 2.0

Annotation Detail for ASPH


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Basic Information Top
Gene Symbol:ASPH ( AAH,BAH,CASQ2BP1,HAAH,JCTN,junctin )
Gene Full Name: aspartate beta-hydroxylase
Band: 8q12.3
Quick LinksEntrez ID:444; OMIM: 600582; Uniprot ID:ASPH_HUMAN; ENSEMBL ID: ENSG00000198363; HGNC ID: 757
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 body16 / 70761226
blastocyst7 / 62319112
fetus49 / 56401286
neonate13 / 31097418
infant0 / 236200 
juvenile4 / 5555671
adult288 / 1939121148
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma4 / 17475228
breast (mammary gland) tumor22 / 94178233
cervical tumor9 / 34366261
chondrosarcoma25 / 82823301
colorectal tumor25 / 114246218
esophageal tumor2 / 17290115
gastrointestinal tumor32 / 119369268
germ cell tumor20 / 26384575
glioma8 / 10688374
head and neck tumor24 / 136302176
kidney tumor19 / 68959275
leukemia4 / 9584241
liver tumor12 / 96359124
lung tumor19 / 103127184
lymphoma0 / 717550 
non-neoplasia24 / 97250246
normal408 / 3360307121
ovarian tumor3 / 7668239
pancreatic tumor15 / 104616143
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer18 / 102680175
retinoblastoma1 / 4635621
skin tumor15 / 124949120
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue6 / 13106457
adrenal gland4 / 33197120
ascites15 / 40015374
bladder11 / 29757369
blood0 / 1234780 
bone28 / 71655390
bone marrow5 / 48801102
brain153 / 1100989138
cervix11 / 48171228
connective tissue20 / 149255133
ear2 / 16212123
embryonic tissue30 / 215722139
esophagus2 / 2020998
eye30 / 211054142
heart10 / 89626111
intestine43 / 234472183
kidney58 / 211777273
larynx1 / 2414541
liver32 / 207743154
lung40 / 336974118
lymph0 / 442700 
lymph node5 / 9161054
mammary gland32 / 153271208
mouth18 / 67052268
muscle15 / 107715139
nerve3 / 15768190
ovary2 / 10205119
pancreas32 / 214812148
parathyroid4 / 20539194
pharynx0 / 413280 
pituitary gland4 / 16585241
placenta18 / 28082564
prostate20 / 189345105
salivary gland1 / 2015549
skin48 / 210574227
spleen2 / 5395237
stomach18 / 96619186
testis24 / 33044272
thymus1 / 8113112
thyroid3 / 4747363
tonsil0 / 169990 
trachea17 / 52413324
umbilical cord0 / 136800 
uterus21 / 23287890
vascular14 / 51780270
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205808_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.7
Adipocyte13.7
AdrenalCortex3.95
Adrenalgland3.15
Amygdala3.9
Appendix3.8
AtrioventricularNode2.95
BDCA4+_DentriticCells5.7
Bonemarrow3.65
BronchialEpithelialCells3.75
CD105+_Endothelial3.8
CD14+_Monocytes4
CD19+_BCells(neg._sel.)4.05
CD33+_Myeloid4.85
CD34+4.8
CD4+_Tcells4.1
CD56+_NKCells4.5
CD71+_EarlyErythroid3.55
CD8+_Tcells3.6
CardiacMyocytes5.75
Caudatenucleus3.35
Cerebellum3
CerebellumPeduncles4.3
CiliaryGanglion2.85
CingulateCortex3.85
Colorectaladenocarcinoma3.75
DorsalRootGanglion2.9
FetalThyroid3.65
Fetalbrain3.7
Fetalliver3.25
Fetallung3.1
GlobusPallidus2.75
Heart4.8
Hypothalamus4.05
Kidney3
Leukemia_chronicMyelogenousK-5623.4
Leukemia_promyelocytic-HL-603.3
Leukemialymphoblastic(MOLT-4)3
Liver4.95
Lung4.1
Lymphnode3.2
Lymphoma_burkitts(Daudi)4.8
Lymphoma_burkitts(Raji)5.3
MedullaOblongata3.45
OccipitalLobe3.35
OlfactoryBulb2.95
Ovary2.55
Pancreas3
PancreaticIslet3.95
ParietalLobe3.95
Pituitary4.35
Placenta3.85
Pons3.55
PrefrontalCortex4.65
Prostate4.3
Salivarygland3
SkeletalMuscle4.4
Skin2.9
SmoothMuscle10.05
Spinalcord4
SubthalamicNucleus3.4
SuperiorCervicalGanglion5.05
TemporalLobe3.45
Testis3.2
TestisGermCell3.1
TestisIntersitial3.1
TestisLeydigCell3.7
TestisSeminiferousTubule3.25
Thalamus3.8
Thymus2.9
Thyroid4.65
Tongue3.7
Tonsil3.6
Trachea3.1
TrigeminalGanglion3.8
Uterus3.05
UterusCorpus3.35
WholeBlood4.1
Wholebrain3.15
colon3.8
pineal_day4.7
pineal_night4.6
retina4.525
small_intestine3.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P18105
  • 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
Amygdala5.98 ± 0.36
Basal Forebrain6.12 ± 0.23
Basal Part of Pons5.69 ± 0.24
Cerebellar Cortex6.14 ± 0.36
Cerebellar Nuclei5.83 ± 0.43
Claustrum5.75 ± 0.64
Epithalamus6.34 ± 0.42
Frontal Lobe5.98 ± 0.43
Globus Pallidus6.86 ± 0.53
Hypothalamus5.79 ± 0.38
Insula5.89 ± 0.28
Limbic Lobe5.92 ± 0.53
Mesencephalon6.15 ± 0.45
Myelencephalon6.02 ± 0.52
Occipital Lobe6.05 ± 0.39
Parietal Lobe6.07 ± 0.48
Pontine Tegmentum5.96 ± 0.44
Striatum6.26 ± 0.36
Subthalamus6.18 ± 0.41
Temporal Lobe5.9 ± 0.41
Thalamus6.26 ± 0.4
White Matter5.36 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AsphCBCerebellum65.2
100
AsphCTXCerebral cortex39.67
26.39
AsphHIPHippocampal region34.46
41.19
AsphHPFHippocampal formation37.85
37.56
AsphHYHypothalamus15.85
11.32
AsphLSXLateral septal complex6.71
4.27
AsphMBMidbrain12.72
11.27
AsphMYMedulla26.12
30.44
AsphOLFOlfactory bulb48.47
39.22
AsphPPons23.88
25.23
AsphPALPallidum26.67
23.52
AsphRHPRetrohippocampal region45.06
33.26
AsphsAMYStriatum-like amygdalar nuclei54.91
44.85
AsphSTRStriatum29.88
21.49
AsphSTRdStriatum dorsal region30.98
21.54
AsphSTRvStriatum ventral region25.67
18.59
AsphTHThalamus20.87
16.89
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ASPH_HUMAN_430 8 430 437 QQFLGHMR PRIDE
ASPH_HUMAN_595 12 595 606 LIRDEGLAVMDK PRIDE
PAp00130807 18 58 75 LGIYDADGDGDFDVDDAK Peptide Atlas

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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