AutismKB 2.0

Annotation Detail for ALDH18A1


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Basic Information Top
Gene Symbol:ALDH18A1 ( GSAS,MGC117316,P5CS,PYCS )
Gene Full Name: aldehyde dehydrogenase 18 family, member A1
Band: 10q24.1
Quick LinksEntrez ID:5832; OMIM: 138250; Uniprot ID:P5CS_HUMAN; ENSEMBL ID: ENSG00000059573; HGNC ID: 9722
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 body11 / 70761155
blastocyst10 / 62319160
fetus60 / 564012106
neonate1 / 3109732
infant1 / 2362042
juvenile4 / 5555671
adult182 / 193912193
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor15 / 94178159
cervical tumor2 / 3436658
chondrosarcoma10 / 82823120
colorectal tumor12 / 114246105
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor56 / 263845212
glioma5 / 10688346
head and neck tumor16 / 136302117
kidney tumor4 / 6895958
leukemia8 / 9584283
liver tumor9 / 9635993
lung tumor6 / 10312758
lymphoma1 / 7175513
non-neoplasia10 / 97250102
normal271 / 336030780
ovarian tumor7 / 7668291
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer5 / 10268048
retinoblastoma2 / 4635643
skin tumor15 / 124949120
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites4 / 4001599
bladder2 / 2975767
blood9 / 12347872
bone5 / 7165569
bone marrow6 / 48801122
brain76 / 110098969
cervix8 / 48171166
connective tissue19 / 149255127
ear2 / 16212123
embryonic tissue29 / 215722134
esophagus1 / 2020949
eye14 / 21105466
heart5 / 8962655
intestine24 / 234472102
kidney16 / 21177775
larynx1 / 2414541
liver12 / 20774357
lung21 / 33697462
lymph1 / 4427022
lymph node6 / 9161065
mammary gland18 / 153271117
mouth12 / 67052178
muscle6 / 10771555
nerve1 / 1576863
ovary10 / 10205197
pancreas22 / 214812102
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta37 / 280825131
prostate11 / 18934558
salivary gland2 / 2015599
skin24 / 210574113
spleen1 / 5395218
stomach4 / 9661941
testis57 / 330442172
thymus10 / 81131123
thyroid5 / 47473105
tonsil0 / 169990 
trachea31 / 52413591
umbilical cord0 / 136800 
uterus19 / 23287881
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217791_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts849.1
Adipocyte39.65
AdrenalCortex33.75
Adrenalgland23.75
Amygdala29.05
Appendix30.05
AtrioventricularNode31.75
BDCA4+_DentriticCells52.75
Bonemarrow30.15
BronchialEpithelialCells73.5
CD105+_Endothelial196.7
CD14+_Monocytes10.2
CD19+_BCells(neg._sel.)51.55
CD33+_Myeloid36.25
CD34+512.15
CD4+_Tcells89.75
CD56+_NKCells99.5
CD71+_EarlyErythroid40.85
CD8+_Tcells51.35
CardiacMyocytes80.55
Caudatenucleus26.75
Cerebellum24.25
CerebellumPeduncles24.65
CiliaryGanglion22.55
CingulateCortex23.25
Colorectaladenocarcinoma44
DorsalRootGanglion27.5
FetalThyroid46.2
Fetalbrain27
Fetalliver33.9
Fetallung25.85
GlobusPallidus21.85
Heart38.85
Hypothalamus21.55
Kidney24.05
Leukemia_chronicMyelogenousK-56241.75
Leukemia_promyelocytic-HL-60100
Leukemialymphoblastic(MOLT-4)108.2
Liver40.95
Lung32.8
Lymphnode25.1
Lymphoma_burkitts(Daudi)160.7
Lymphoma_burkitts(Raji)73.6
MedullaOblongata21.2
OccipitalLobe19.25
OlfactoryBulb17.65
Ovary24.4
Pancreas46.7
PancreaticIslet47.85
ParietalLobe26.85
Pituitary62.65
Placenta51.1
Pons24.05
PrefrontalCortex37.6
Prostate38.35
Salivarygland121.65
SkeletalMuscle36.5
Skin27.05
SmoothMuscle238.7
Spinalcord30
SubthalamicNucleus28
SuperiorCervicalGanglion33.95
TemporalLobe11.05
Testis27
TestisGermCell25.6
TestisIntersitial31.3
TestisLeydigCell30.8
TestisSeminiferousTubule25.9
Thalamus23.7
Thymus26.1
Thyroid58.25
Tongue26.85
Tonsil30.65
Trachea116.55
TrigeminalGanglion31.35
Uterus26.1
UterusCorpus27.45
WholeBlood29.2
Wholebrain23.65
colon58.55
pineal_day39.84
pineal_night34.2
retina36.925
small_intestine201.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P1361
  • 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
Amygdala6.62 ± 0.46
Basal Forebrain6.76 ± 0.19
Basal Part of Pons6.9 ± 0.22
Cerebellar Cortex6.65 ± 0.32
Cerebellar Nuclei6.87 ± 0.28
Claustrum6.66 ± 0.45
Epithalamus6.79 ± 0.25
Frontal Lobe6.63 ± 0.27
Globus Pallidus6.85 ± 0.17
Hypothalamus6.98 ± 0.6
Insula6.55 ± 0.35
Limbic Lobe6.79 ± 0.35
Mesencephalon6.93 ± 0.3
Myelencephalon6.75 ± 0.29
Occipital Lobe7.06 ± 0.29
Parietal Lobe6.75 ± 0.26
Pontine Tegmentum6.65 ± 0.25
Striatum6.97 ± 0.26
Subthalamus6.87 ± 0.08
Temporal Lobe6.69 ± 0.28
Thalamus6.77 ± 0.26
White Matter6.47 ± 0.28
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
P5CS_HUMAN_126 12 126 137 LRHEILLSQSVR PRIDE
P5CS_HUMAN_139 21 139 159 QALHSGQNQLKEMAIPVLEAR PRIDE
P5CS_HUMAN_150 10 150 159 EMAIPVLEAR PRIDE
P5CS_HUMAN_44 12 44 55 SNIPFITVPLSR PRIDE
P5CS_HUMAN_442 12 442 453 QIAASSQDSVGR PRIDE
P5CS_HUMAN_551 8 551 558 MIDLIIPR PRIDE
P5CS_HUMAN_626 12 626 637 TPLFDQIIDMLR PRIDE
P5CS_HUMAN_65 8 65 72 SELKHAKR PRIDE
PAp00000955 17 604 620 CEYPAACNALETLLIHR 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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