AutismKB 2.0

Annotation Detail for ALDH1A1


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Basic Information Top
Gene Symbol:ALDH1A1 ( ALDC,ALDH-E1,ALDH1,ALDH11,MGC2318,PUMB1,RALDH1 )
Gene Full Name: aldehyde dehydrogenase 1 family, member A1
Band: 9q21.13
Quick LinksEntrez ID:216; OMIM: 100640; Uniprot ID:AL1A1_HUMAN; ENSEMBL ID: ENSG00000165092; HGNC ID: 402
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 
fetus54 / 56401295
neonate29 / 31097932
infant1 / 2362042
juvenile31 / 55556557
adult338 / 1939121174
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor6 / 12794468
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor2 / 3436658
chondrosarcoma4 / 8282348
colorectal tumor32 / 114246280
esophageal tumor0 / 172900 
gastrointestinal tumor122 / 1193691022
germ cell tumor55 / 263845208
glioma3 / 10688328
head and neck tumor28 / 136302205
kidney tumor28 / 68959406
leukemia15 / 95842156
liver tumor205 / 963592127
lung tumor18 / 103127174
lymphoma0 / 717550 
non-neoplasia80 / 97250822
normal1569 / 3360307466
ovarian tumor4 / 7668252
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor99 / 125191790
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue5 / 13106381
adrenal gland56 / 331971686
ascites2 / 4001549
bladder23 / 29757772
blood15 / 123478121
bone2 / 7165527
bone marrow15 / 48801307
brain436 / 1100989396
cervix5 / 48171103
connective tissue48 / 149255321
ear5 / 16212308
embryonic tissue1 / 2157224
esophagus3 / 20209148
eye45 / 211054213
heart19 / 89626211
intestine287 / 2344721224
kidney143 / 211777675
larynx2 / 2414582
liver293 / 2077431410
lung148 / 336974439
lymph0 / 442700 
lymph node0 / 916100 
mammary gland15 / 15327197
mouth36 / 67052536
muscle8 / 10771574
nerve2 / 15768126
ovary6 / 10205158
pancreas39 / 214812181
parathyroid1 / 2053948
pharynx16 / 41328387
pituitary gland8 / 16585482
placenta24 / 28082585
prostate28 / 189345147
salivary gland1 / 2015549
skin40 / 210574189
spleen45 / 53952834
stomach101 / 966191045
testis259 / 330442783
thymus15 / 81131184
thyroid4 / 4747384
tonsil0 / 169990 
trachea135 / 524132575
umbilical cord1 / 1368073
uterus226 / 232878970
vascular28 / 51780540
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212224_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.7
Adipocyte9.65
AdrenalCortex27.15
Adrenalgland45.45
Amygdala12.85
Appendix105.5
AtrioventricularNode29.8
BDCA4+_DentriticCells11.1
Bonemarrow9.1
BronchialEpithelialCells6.3
CD105+_Endothelial253.1
CD14+_Monocytes161.55
CD19+_BCells(neg._sel.)7.15
CD33+_Myeloid177.7
CD34+244.5
CD4+_Tcells6.05
CD56+_NKCells6.85
CD71+_EarlyErythroid16.15
CD8+_Tcells5.45
CardiacMyocytes16.85
Caudatenucleus22.5
Cerebellum70.25
CerebellumPeduncles123.8
CiliaryGanglion18.55
CingulateCortex39.15
Colorectaladenocarcinoma7.45
DorsalRootGanglion64.2
FetalThyroid58.1
Fetalbrain6.45
Fetalliver376.4
Fetallung104.15
GlobusPallidus10.25
Heart16.2
Hypothalamus46.3
Kidney97.2
Leukemia_chronicMyelogenousK-56210.15
Leukemia_promyelocytic-HL-607.3
Leukemialymphoblastic(MOLT-4)6.85
Liver76.6
Lung19.2
Lymphnode41.75
Lymphoma_burkitts(Daudi)10.25
Lymphoma_burkitts(Raji)12.5
MedullaOblongata14.4
OccipitalLobe17.8
OlfactoryBulb370.45
Ovary9.15
Pancreas77.45
PancreaticIslet322.45
ParietalLobe16.3
Pituitary595.4
Placenta12.55
Pons11.45
PrefrontalCortex25.45
Prostate13.2
Salivarygland75.15
SkeletalMuscle15
Skin11.85
SmoothMuscle10.65
Spinalcord151.75
SubthalamicNucleus16.2
SuperiorCervicalGanglion21.5
TemporalLobe16.15
Testis84.25
TestisGermCell609.6
TestisIntersitial122.1
TestisLeydigCell152.5
TestisSeminiferousTubule83.7
Thalamus32.9
Thymus6.85
Thyroid331.15
Tongue12.45
Tonsil12.85
Trachea355.15
TrigeminalGanglion17.2
Uterus134.95
UterusCorpus12.05
WholeBlood22.85
Wholebrain10.4
colon350.25
pineal_day16.74
pineal_night16.04
retina180.025
small_intestine858.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P83098
  • 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
Amygdala7.81 ± 0.78
Basal Forebrain8.32 ± 0.62
Basal Part of Pons8.18 ± 0.3
Cerebellar Cortex9.54 ± 0.39
Cerebellar Nuclei8.77 ± 0.35
Claustrum10.21 ± 0.67
Epithalamus8.64 ± 0.75
Frontal Lobe8.71 ± 0.58
Globus Pallidus9.8 ± 0.95
Hypothalamus8.27 ± 0.85
Insula8.53 ± 0.57
Limbic Lobe8.48 ± 0.7
Mesencephalon9.85 ± 1.14
Myelencephalon9.05 ± 0.64
Occipital Lobe9.55 ± 0.63
Parietal Lobe8.93 ± 0.61
Pontine Tegmentum8.76 ± 0.41
Striatum9.02 ± 1.17
Subthalamus8.73 ± 0.27
Temporal Lobe8.53 ± 0.56
Thalamus9.29 ± 0.48
White Matter10.21 ± 0.72
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Aldh1a1CBCerebellum10.54
12.76
Aldh1a1CTXCerebral cortex3.58
3.16
Aldh1a1HIPHippocampal region2.91
3.67
Aldh1a1HPFHippocampal formation3.05
3.56
Aldh1a1HYHypothalamus1.26
1.73
Aldh1a1LSXLateral septal complex2.28
2.72
Aldh1a1MBMidbrain5.5
13.78
Aldh1a1MYMedulla5.74
7.84
Aldh1a1OLFOlfactory bulb2.35
2.65
Aldh1a1PPons4.48
7.63
Aldh1a1PALPallidum2
2.12
Aldh1a1RHPRetrohippocampal region3.29
3.4
Aldh1a1sAMYStriatum-like amygdalar nuclei1.08
1.34
Aldh1a1STRStriatum4.26
3.61
Aldh1a1STRdStriatum dorsal region4.23
3.83
Aldh1a1STRvStriatum ventral region2.41
2.15
Aldh1a1THThalamus2.97
4.17
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AL1A1_HUMAN_136 7 136 142 ADKIQGR PRIDE
AL1A1_HUMAN_143 13 143 155 TIPIDGNFFTYTR PRIDE
AL1A1_HUMAN_148 8 148 155 GNFFTYTR PRIDE
AL1A1_HUMAN_256 9 256 264 AAGKSNLKR PRIDE
AL1A1_HUMAN_381 14 381 394 VQPTVFSNVTDEMR PRIDE
AL1A1_HUMAN_467 9 467 475 GFKMSGNGR PRIDE
PAp00000609 15 421 435 ANNTFYGLSAGVFTK 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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