AutismKB 2.0

Annotation Detail for ALDH1A3


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Basic Information Top
Gene Symbol:ALDH1A3 ( ALDH1A6,ALDH6,RALDH3 )
Gene Full Name: aldehyde dehydrogenase 1 family, member A3
Band: 15q26.3
Quick LinksEntrez ID:220; OMIM: 600463; Uniprot ID:AL1A3_HUMAN; ENSEMBL ID: ENSG00000184254; HGNC ID: 409
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 
blastocyst1 / 6231916
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult139 / 193912171
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma3 / 17475171
breast (mammary gland) tumor12 / 94178127
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor16 / 114246140
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor1 / 2638453
glioma6 / 10688356
head and neck tumor6 / 13630244
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor8 / 9635983
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal133 / 336030739
ovarian tumor0 / 766820 
pancreatic tumor21 / 104616200
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer27 / 102680262
retinoblastoma0 / 463560 
skin tumor11 / 12494988
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland1 / 3319730
ascites0 / 400150 
bladder3 / 29757100
blood0 / 1234780 
bone4 / 7165555
bone marrow0 / 488010 
brain32 / 110098929
cervix2 / 4817141
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye7 / 21105433
heart1 / 8962611
intestine20 / 23447285
kidney3 / 21177714
larynx0 / 241450 
liver10 / 20774348
lung16 / 33697447
lymph0 / 442700 
lymph node10 / 91610109
mammary gland30 / 153271195
mouth6 / 6705289
muscle5 / 10771546
nerve0 / 157680 
ovary0 / 1020510 
pancreas21 / 21481297
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate54 / 189345285
salivary gland0 / 201550 
skin16 / 21057475
spleen1 / 5395218
stomach6 / 9661962
testis18 / 33044254
thymus1 / 8113112
thyroid3 / 4747363
tonsil0 / 169990 
trachea21 / 52413400
umbilical cord0 / 136800 
uterus9 / 23287838
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203180_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.35
Adipocyte11.7
AdrenalCortex6.9
Adrenalgland7.25
Amygdala5.8
Appendix6.45
AtrioventricularNode4.7
BDCA4+_DentriticCells5.65
Bonemarrow5.9
BronchialEpithelialCells916.55
CD105+_Endothelial5.75
CD14+_Monocytes5.75
CD19+_BCells(neg._sel.)5.6
CD33+_Myeloid6.65
CD34+6.45
CD4+_Tcells5.7
CD56+_NKCells6.2
CD71+_EarlyErythroid5.4
CD8+_Tcells4.95
CardiacMyocytes16.3
Caudatenucleus5.05
Cerebellum4.65
CerebellumPeduncles6.8
CiliaryGanglion4.45
CingulateCortex5.75
Colorectaladenocarcinoma247.8
DorsalRootGanglion5.5
FetalThyroid5.3
Fetalbrain5.2
Fetalliver4.85
Fetallung4.55
GlobusPallidus4.25
Heart7.5
Hypothalamus6.15
Kidney5
Leukemia_chronicMyelogenousK-5624.8
Leukemia_promyelocytic-HL-604.75
Leukemialymphoblastic(MOLT-4)4.35
Liver7.85
Lung16.9
Lymphnode4.7
Lymphoma_burkitts(Daudi)7.25
Lymphoma_burkitts(Raji)7.9
MedullaOblongata5.1
OccipitalLobe5.05
OlfactoryBulb11.35
Ovary3.9
Pancreas4.95
PancreaticIslet6.25
ParietalLobe6.35
Pituitary6.6
Placenta6.15
Pons5.5
PrefrontalCortex6.65
Prostate695.8
Salivarygland21
SkeletalMuscle8.65
Skin7.35
SmoothMuscle693.15
Spinalcord6.8
SubthalamicNucleus5.35
SuperiorCervicalGanglion6.95
TemporalLobe5.35
Testis8.3
TestisGermCell39.1
TestisIntersitial9.4
TestisLeydigCell6.2
TestisSeminiferousTubule9.5
Thalamus5.9
Thymus4.25
Thyroid6.45
Tongue5.95
Tonsil5.6
Trachea21.35
TrigeminalGanglion5.7
Uterus8.3
UterusCorpus5.2
WholeBlood5.75
Wholebrain4.75
colon5.8
pineal_day10.48
pineal_night13.66
retina189.525
small_intestine102.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16042_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
Amygdala4.83 ± 0.84
Basal Forebrain5.07 ± 0.57
Basal Part of Pons4.33 ± 0.46
Cerebellar Cortex5.7 ± 0.54
Cerebellar Nuclei6.07 ± 0.45
Claustrum4.61 ± 1.33
Epithalamus4.14 ± 0.72
Frontal Lobe4.82 ± 0.68
Globus Pallidus5.68 ± 0.61
Hypothalamus4.8 ± 0.94
Insula4.54 ± 0.58
Limbic Lobe4.74 ± 0.83
Mesencephalon5.17 ± 0.76
Myelencephalon5.07 ± 0.82
Occipital Lobe5.9 ± 0.81
Parietal Lobe5.41 ± 0.63
Pontine Tegmentum5.27 ± 0.75
Striatum4.6 ± 0.74
Subthalamus4.81 ± 0.67
Temporal Lobe4.77 ± 0.64
Thalamus5.35 ± 0.41
White Matter6.55 ± 0.52
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Aldh1a3CBCerebellum2.41
2.81
Aldh1a3CTXCerebral cortex3.45
1.66
Aldh1a3HIPHippocampal region0.39
0.38
Aldh1a3HPFHippocampal formation0.51
0.37
Aldh1a3HYHypothalamus0.71
0.37
Aldh1a3LSXLateral septal complex0.59
0.33
Aldh1a3MBMidbrain0.77
0.48
Aldh1a3MYMedulla3.23
1.85
Aldh1a3OLFOlfactory bulb4.8
2.65
Aldh1a3PPons2.47
1.59
Aldh1a3PALPallidum0.8
0.73
Aldh1a3RHPRetrohippocampal region0.75
0.32
Aldh1a3sAMYStriatum-like amygdalar nuclei0.59
0.23
Aldh1a3STRStriatum0.42
0.28
Aldh1a3STRdStriatum dorsal region0.46
0.38
Aldh1a3STRvStriatum ventral region0.27
0.11
Aldh1a3THThalamus0.43
0.33
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AL1A3_HUMAN_111 28 111 138 ATLAALETMDTGKPFLHAFFIDLEGCIR PRIDE
AL1A3_HUMAN_142 12 142 153 YFAGWADKIQGK PRIDE
AL1A3_HUMAN_154 13 154 166 TIPTDDNVVCFTR PRIDE
AL1A3_HUMAN_167 23 167 189 HEPIGVCGAITPWNFPLLMLVWK PRIDE
AL1A3_HUMAN_190 31 190 220 LAPALCCGNTMVLKPAEQTPLTALYLGSLIK PRIDE
AL1A3_HUMAN_2 14 2 15 ATANGAVENGQPDR PRIDE
AL1A3_HUMAN_221 31 221 251 EAGFPPGVVNIVPGFGPTVGAAISSHPQINK PRIDE
AL1A3_HUMAN_252 11 252 262 IAFTGSTEVGK PRIDE
AL1A3_HUMAN_319 13 319 331 VFVEEQVYSEFVR PRIDE
AL1A3_HUMAN_319 14 319 332 VFVEEQVYSEFVRR PRIDE
AL1A3_HUMAN_339 21 339 359 KRPVGDPFDVKTEQGPQIDQK PRIDE
AL1A3_HUMAN_389 17 389 405 GLFIKPTVFSEVTDNMR PRIDE
AL1A3_HUMAN_406 15 406 420 IAKEEIFGPVQPILK PRIDE
AL1A3_HUMAN_431 15 431 445 ANSTDYGLTAAVFTK PRIDE
AL1A3_HUMAN_487 14 487 500 ELGEYALAEYTEVK PRIDE
AL1A3_HUMAN_73 11 73 83 AVEAAQVAFQR PRIDE
AL1A3_HUMAN_98 11 98 108 LLHQLADLVER PRIDE
PAp00069986 11 253 263 IAFTGSTEVGK 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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