AutismKB 2.0

Annotation Detail for ALDH8A1


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Basic Information Top
Gene Symbol:ALDH8A1 ( ALDH12,DJ352A20.2,DKFZp779D2315,MGC138650 )
Gene Full Name: aldehyde dehydrogenase 8 family, member A1
Band: 6q23.3
Quick LinksEntrez ID:64577; OMIM: 606467; Uniprot ID:AL8A1_HUMAN; ENSEMBL ID: ENSG00000118514; HGNC ID: 15471
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 
blastocyst0 / 623190 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult11 / 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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor5 / 17290289
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor6 / 9635962
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal54 / 336030716
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 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain4 / 11009893
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus5 / 20209247
eye0 / 2110540 
heart1 / 8962611
intestine0 / 2344720 
kidney34 / 211777160
larynx0 / 241450 
liver18 / 20774386
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220148_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.8
Adipocyte5.65
AdrenalCortex6.9
Adrenalgland4.9
Amygdala5.9
Appendix6.3
AtrioventricularNode5.35
BDCA4+_DentriticCells5.7
Bonemarrow5.85
BronchialEpithelialCells5.4
CD105+_Endothelial5.55
CD14+_Monocytes5.95
CD19+_BCells(neg._sel.)5.9
CD33+_Myeloid6.9
CD34+7.3
CD4+_Tcells6.2
CD56+_NKCells6.6
CD71+_EarlyErythroid5.4
CD8+_Tcells5.35
CardiacMyocytes8.25
Caudatenucleus5.1
Cerebellum4.6
CerebellumPeduncles6.7
CiliaryGanglion4.85
CingulateCortex6.05
Colorectaladenocarcinoma5.7
DorsalRootGanglion4.95
FetalThyroid5.6
Fetalbrain5.5
Fetalliver183.95
Fetallung4.7
GlobusPallidus4.4
Heart8.15
Hypothalamus6.3
Kidney167.85
Leukemia_chronicMyelogenousK-5625.2
Leukemia_promyelocytic-HL-605
Leukemialymphoblastic(MOLT-4)4.35
Liver310.15
Lung6.1
Lymphnode4.8
Lymphoma_burkitts(Daudi)7.4
Lymphoma_burkitts(Raji)8.65
MedullaOblongata5.15
OccipitalLobe5.8
OlfactoryBulb4.4
Ovary4.15
Pancreas4.65
PancreaticIslet6.05
ParietalLobe6.55
Pituitary6.55
Placenta5.55
Pons5.5
PrefrontalCortex6.95
Prostate6.45
Salivarygland5.1
SkeletalMuscle7.85
Skin5
SmoothMuscle6.45
Spinalcord6
SubthalamicNucleus5.3
SuperiorCervicalGanglion7.2
TemporalLobe5.4
Testis4.9
TestisGermCell4.5
TestisIntersitial4.75
TestisLeydigCell5.7
TestisSeminiferousTubule4.85
Thalamus5.85
Thymus4.25
Thyroid6.9
Tongue5.95
Tonsil5.55
Trachea4.7
TrigeminalGanglion10.8
Uterus4.6
UterusCorpus5.45
WholeBlood6.15
Wholebrain4.6
colon5.7
pineal_day6.96
pineal_night6.84
retina6.925
small_intestine5.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P283324
  • 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
Amygdala5.51 ± 0.53
Basal Forebrain5.07 ± 0.32
Basal Part of Pons5.48 ± 0.38
Cerebellar Cortex4.96 ± 0.39
Cerebellar Nuclei4.88 ± 0.68
Claustrum5.76 ± 0.66
Epithalamus4.6 ± 0.59
Frontal Lobe5.15 ± 0.5
Globus Pallidus4.46 ± 0.88
Hypothalamus4.36 ± 0.58
Insula5.1 ± 0.28
Limbic Lobe5.49 ± 0.54
Mesencephalon4.93 ± 0.6
Myelencephalon5.17 ± 0.49
Occipital Lobe5.5 ± 0.41
Parietal Lobe5.26 ± 0.57
Pontine Tegmentum5.06 ± 0.53
Striatum5.34 ± 0.54
Subthalamus5.34 ± 0.34
Temporal Lobe5.27 ± 0.53
Thalamus5.29 ± 0.45
White Matter5.45 ± 0.75
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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