AutismKB 2.0

Annotation Detail for ALDH4A1


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Basic Information Top
Gene Symbol:ALDH4A1 ( ALDH4,DKFZp779M035,P5CD,P5CDh )
Gene Full Name: aldehyde dehydrogenase 4 family, member A1
Band: 1p36.13
Quick LinksEntrez ID:8659; OMIM: 606811; Uniprot ID:AL4A1_HUMAN; ENSEMBL ID: ENSG00000159423; HGNC ID: 406
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 body4 / 7076156
blastocyst6 / 6231996
fetus40 / 56401270
neonate3 / 3109796
infant2 / 2362084
juvenile13 / 55556233
adult130 / 193912167
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor9 / 11936975
germ cell tumor16 / 26384560
glioma10 / 10688393
head and neck tumor23 / 136302168
kidney tumor3 / 6895943
leukemia7 / 9584273
liver tumor19 / 96359197
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal437 / 3360307130
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS18 / 125680143
prostate cancer9 / 10268087
retinoblastoma2 / 4635643
skin tumor4 / 12494932
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites2 / 4001549
bladder1 / 2975733
blood11 / 12347889
bone4 / 7165555
bone marrow1 / 4880120
brain192 / 1100989174
cervix6 / 48171124
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus1 / 2020949
eye16 / 21105475
heart10 / 89626111
intestine7 / 23447229
kidney75 / 211777354
larynx1 / 2414541
liver44 / 207743211
lung10 / 33697429
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth23 / 67052343
muscle2 / 10771518
nerve1 / 1576863
ovary4 / 10205139
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta47 / 280825167
prostate29 / 189345153
salivary gland0 / 201550 
skin17 / 21057480
spleen2 / 5395237
stomach5 / 9661951
testis15 / 33044245
thymus43 / 81131530
thyroid2 / 4747342
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord2 / 13680146
uterus10 / 23287842
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211552_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts24.95
Adipocyte29.55
AdrenalCortex31.2
Adrenalgland27.65
Amygdala31.35
Appendix23.85
AtrioventricularNode23
BDCA4+_DentriticCells25.95
Bonemarrow42.1
BronchialEpithelialCells29.4
CD105+_Endothelial30.15
CD14+_Monocytes27.5
CD19+_BCells(neg._sel.)23.2
CD33+_Myeloid38.15
CD34+47.2
CD4+_Tcells29.25
CD56+_NKCells33.55
CD71+_EarlyErythroid33.85
CD8+_Tcells20.15
CardiacMyocytes37.35
Caudatenucleus27.1
Cerebellum25.85
CerebellumPeduncles33.25
CiliaryGanglion30.3
CingulateCortex30.65
Colorectaladenocarcinoma29.65
DorsalRootGanglion25.05
FetalThyroid20.95
Fetalbrain30.05
Fetalliver96.4
Fetallung26.1
GlobusPallidus23.3
Heart38.3
Hypothalamus33.25
Kidney136.4
Leukemia_chronicMyelogenousK-56226.9
Leukemia_promyelocytic-HL-6023.5
Leukemialymphoblastic(MOLT-4)23.9
Liver272.6
Lung32.75
Lymphnode26.55
Lymphoma_burkitts(Daudi)36.9
Lymphoma_burkitts(Raji)41.05
MedullaOblongata24
OccipitalLobe26.6
OlfactoryBulb23.4
Ovary19.8
Pancreas23.9
PancreaticIslet27.45
ParietalLobe26.15
Pituitary35.4
Placenta34.05
Pons28
PrefrontalCortex38.15
Prostate53.65
Salivarygland24.45
SkeletalMuscle33.45
Skin25.5
SmoothMuscle28.5
Spinalcord34.1
SubthalamicNucleus29.25
SuperiorCervicalGanglion42.35
TemporalLobe27.2
Testis25.45
TestisGermCell22.15
TestisIntersitial24.7
TestisLeydigCell29.4
TestisSeminiferousTubule26.35
Thalamus51.95
Thymus26.45
Thyroid33.35
Tongue36.05
Tonsil31.4
Trachea25.3
TrigeminalGanglion29.95
Uterus22.75
UterusCorpus21.35
WholeBlood23.9
Wholebrain22.15
colon25.15
pineal_day49.86
pineal_night43.98
retina41.075
small_intestine19.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P192970
  • 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
Amygdala3.39 ± 0.82
Basal Forebrain2.79 ± 0.27
Basal Part of Pons2.67 ± 0.4
Cerebellar Cortex2.67 ± 0.47
Cerebellar Nuclei3.23 ± 0.77
Claustrum3.12 ± 0.69
Epithalamus2.7 ± 0.75
Frontal Lobe3.18 ± 0.67
Globus Pallidus4.33 ± 0.48
Hypothalamus3.08 ± 0.49
Insula3.02 ± 0.65
Limbic Lobe2.94 ± 0.66
Mesencephalon3.48 ± 0.67
Myelencephalon3.2 ± 0.67
Occipital Lobe3.16 ± 0.62
Parietal Lobe3.2 ± 0.58
Pontine Tegmentum3.22 ± 0.66
Striatum3.78 ± 0.62
Subthalamus3.08 ± 0.77
Temporal Lobe3.12 ± 0.71
Thalamus3.43 ± 0.61
White Matter2.26 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Aldh4a1CBCerebellum19.71
26.13
Aldh4a1CTXCerebral cortex14.5
10.56
Aldh4a1HIPHippocampal region22.15
21.78
Aldh4a1HPFHippocampal formation23.14
19.7
Aldh4a1HYHypothalamus21.97
15.08
Aldh4a1LSXLateral septal complex24.14
15.18
Aldh4a1MBMidbrain13.35
11.71
Aldh4a1MYMedulla13.87
13.05
Aldh4a1OLFOlfactory bulb19.25
14.97
Aldh4a1PPons13.6
13.13
Aldh4a1PALPallidum12.4
8.64
Aldh4a1RHPRetrohippocampal region25.86
17.15
Aldh4a1sAMYStriatum-like amygdalar nuclei12.47
8.18
Aldh4a1STRStriatum7.81
5.07
Aldh4a1STRdStriatum dorsal region5.7
3.91
Aldh4a1STRvStriatum ventral region5.65
3.14
Aldh4a1THThalamus10.42
8.51
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AL4A1_HUMAN_131 10 131 140 AADMLSGPRR PRIDE
AL4A1_HUMAN_25 23 25 47 KHTSSLKVANEPVLAFTQGSPER PRIDE
AL4A1_HUMAN_326 13 326 338 SADVESVVSGTLR PRIDE
PAp00024354 17 421 437 CDDSVGYFVEPCIVESK 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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