AutismKB 2.0

Annotation Detail for ALDH6A1


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Basic Information Top
Gene Symbol:ALDH6A1 ( MGC40271,MMSADHA,MMSDH )
Gene Full Name: aldehyde dehydrogenase 6 family, member A1
Band: 14q24.3
Quick LinksEntrez ID:4329; OMIM: 603178; Uniprot ID:MMSA_HUMAN; ENSEMBL ID: ENSG00000119711; HGNC ID: 7179
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 body2 / 7076128
blastocyst3 / 6231948
fetus36 / 56401263
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult95 / 193912148
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) tumor6 / 9417863
cervical tumor2 / 3436658
chondrosarcoma5 / 8282360
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor1 / 2638453
glioma5 / 10688346
head and neck tumor2 / 13630214
kidney tumor3 / 6895943
leukemia9 / 9584293
liver tumor8 / 9635983
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia8 / 9725082
normal272 / 336030780
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder2 / 2975767
blood5 / 12347840
bone5 / 7165569
bone marrow4 / 4880181
brain141 / 1100989128
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus1 / 2020949
eye6 / 21105428
heart3 / 8962633
intestine14 / 23447259
kidney69 / 211777325
larynx0 / 241450 
liver18 / 20774386
lung8 / 33697423
lymph1 / 4427022
lymph node1 / 9161010
mammary gland11 / 15327171
mouth3 / 6705244
muscle17 / 107715157
nerve0 / 157680 
ovary1 / 1020519
pancreas5 / 21481223
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate9 / 18934547
salivary gland0 / 201550 
skin4 / 21057418
spleen2 / 5395237
stomach5 / 9661951
testis18 / 33044254
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus8 / 23287834
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221588_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts89.05
Adipocyte114.65
AdrenalCortex75.85
Adrenalgland104.45
Amygdala371.25
Appendix72.5
AtrioventricularNode61.6
BDCA4+_DentriticCells69.35
Bonemarrow63.1
BronchialEpithelialCells45.5
CD105+_Endothelial74.25
CD14+_Monocytes59.85
CD19+_BCells(neg._sel.)53.45
CD33+_Myeloid73.35
CD34+127.7
CD4+_Tcells48.9
CD56+_NKCells59.5
CD71+_EarlyErythroid37.05
CD8+_Tcells44.45
CardiacMyocytes67.2
Caudatenucleus138.05
Cerebellum251.5
CerebellumPeduncles162.25
CiliaryGanglion40.9
CingulateCortex153.4
Colorectaladenocarcinoma46.7
DorsalRootGanglion60.95
FetalThyroid54.55
Fetalbrain49.6
Fetalliver355.3
Fetallung73.7
GlobusPallidus138.15
Heart118.9
Hypothalamus163.3
Kidney1554.6
Leukemia_chronicMyelogenousK-56239.15
Leukemia_promyelocytic-HL-6037.8
Leukemialymphoblastic(MOLT-4)49.1
Liver1227.25
Lung76.4
Lymphnode42.9
Lymphoma_burkitts(Daudi)73.4
Lymphoma_burkitts(Raji)70.8
MedullaOblongata220.25
OccipitalLobe224.35
OlfactoryBulb296.55
Ovary56.5
Pancreas66.55
PancreaticIslet83.1
ParietalLobe221.7
Pituitary97
Placenta63.85
Pons137.65
PrefrontalCortex795.4
Prostate390.05
Salivarygland39.9
SkeletalMuscle85.05
Skin53.15
SmoothMuscle56.5
Spinalcord138
SubthalamicNucleus86.7
SuperiorCervicalGanglion137.1
TemporalLobe161.05
Testis149.2
TestisGermCell213.65
TestisIntersitial67.9
TestisLeydigCell71.9
TestisSeminiferousTubule89.1
Thalamus101.55
Thymus97.45
Thyroid111.45
Tongue74.4
Tonsil63.95
Trachea77.05
TrigeminalGanglion72.4
Uterus87.85
UterusCorpus44.7
WholeBlood47.7
Wholebrain364.2
colon80.1
pineal_day188.2
pineal_night182.44
retina483.775
small_intestine78.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15678_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
Amygdala7.95 ± 0.26
Basal Forebrain7.98 ± 0.11
Basal Part of Pons7.05 ± 0.3
Cerebellar Cortex7.14 ± 0.15
Cerebellar Nuclei7.2 ± 0.32
Claustrum7.19 ± 0.58
Epithalamus7.46 ± 0.42
Frontal Lobe7.48 ± 0.44
Globus Pallidus8.6 ± 0.31
Hypothalamus7.7 ± 0.25
Insula7.48 ± 0.38
Limbic Lobe7.41 ± 0.52
Mesencephalon7.78 ± 0.32
Myelencephalon7.61 ± 0.39
Occipital Lobe7.59 ± 0.38
Parietal Lobe7.6 ± 0.42
Pontine Tegmentum7.64 ± 0.34
Striatum8.18 ± 0.31
Subthalamus7.29 ± 0.32
Temporal Lobe7.49 ± 0.3
Thalamus7.83 ± 0.33
White Matter8.22 ± 0.09
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Aldh6a1CBCerebellum16.39
23.72
Aldh6a1CTXCerebral cortex30.05
20.94
Aldh6a1HIPHippocampal region27.37
27.61
Aldh6a1HPFHippocampal formation26.2
24.24
Aldh6a1HYHypothalamus13.52
9.94
Aldh6a1LSXLateral septal complex11.99
8.07
Aldh6a1MBMidbrain10.22
9.86
Aldh6a1MYMedulla9.15
10.48
Aldh6a1OLFOlfactory bulb31.81
23.99
Aldh6a1PPons7.96
8.88
Aldh6a1PALPallidum17.37
14.1
Aldh6a1RHPRetrohippocampal region23.37
18.78
Aldh6a1sAMYStriatum-like amygdalar nuclei35.19
24.51
Aldh6a1STRStriatum19.1
13.45
Aldh6a1STRdStriatum dorsal region16.48
12.04
Aldh6a1STRvStriatum ventral region21.14
13.37
Aldh6a1THThalamus23.18
18.22
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001201 14 317 330 CMALSTAVLVGEAK 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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