AutismKB 2.0

Annotation Detail for ALDH5A1


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Basic Information Top
Gene Symbol:ALDH5A1 ( SSADH,SSDH )
Gene Full Name: aldehyde dehydrogenase 5 family, member A1
Band: 6p22.3
Quick LinksEntrez ID:7915; OMIM: 610045; Uniprot ID:SSDH_HUMAN; ENSEMBL ID: ENSG00000112294; HGNC ID: 408
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 body1 / 7076114
blastocyst0 / 623190 
fetus29 / 56401251
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult50 / 193912125
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) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor9 / 26384534
glioma3 / 10688328
head and neck tumor6 / 13630244
kidney tumor1 / 6895914
leukemia9 / 9584293
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma7 / 7175597
non-neoplasia2 / 9725020
normal119 / 336030735
ovarian tumor5 / 7668265
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain37 / 110098933
cervix1 / 4817120
connective tissue0 / 1492550 
ear3 / 16212185
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye6 / 21105428
heart1 / 8962611
intestine6 / 23447225
kidney29 / 211777136
larynx1 / 2414541
liver5 / 20774324
lung4 / 33697411
lymph7 / 44270158
lymph node20 / 91610218
mammary gland3 / 15327119
mouth2 / 6705229
muscle3 / 10771527
nerve0 / 157680 
ovary5 / 10205148
pancreas2 / 2148129
parathyroid8 / 20539389
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate2 / 18934510
salivary gland0 / 201550 
skin1 / 2105744
spleen2 / 5395237
stomach1 / 9661910
testis6 / 33044218
thymus4 / 8113149
thyroid5 / 47473105
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203608_at
Cell line Expression level Expression bar
721_B_lymphoblasts21.15
Adipocyte6.1
AdrenalCortex9.7
Adrenalgland11.9
Amygdala202.7
Appendix4.5
AtrioventricularNode8.2
BDCA4+_DentriticCells71.85
Bonemarrow14.8
BronchialEpithelialCells3.75
CD105+_Endothelial20.2
CD14+_Monocytes6.45
CD19+_BCells(neg._sel.)31.45
CD33+_Myeloid17
CD34+73.1
CD4+_Tcells17.55
CD56+_NKCells16.8
CD71+_EarlyErythroid26.9
CD8+_Tcells22.5
CardiacMyocytes6.45
Caudatenucleus38.35
Cerebellum32.7
CerebellumPeduncles26.2
CiliaryGanglion9.95
CingulateCortex42.5
Colorectaladenocarcinoma11
DorsalRootGanglion7.7
FetalThyroid13.8
Fetalbrain15.15
Fetalliver18.85
Fetallung5.1
GlobusPallidus12.65
Heart12.95
Hypothalamus146.8
Kidney13.15
Leukemia_chronicMyelogenousK-56213.05
Leukemia_promyelocytic-HL-60235.6
Leukemialymphoblastic(MOLT-4)11.7
Liver23
Lung15.3
Lymphnode11.95
Lymphoma_burkitts(Daudi)754.15
Lymphoma_burkitts(Raji)315.35
MedullaOblongata16.55
OccipitalLobe36
OlfactoryBulb11.55
Ovary9.35
Pancreas5.25
PancreaticIslet10.15
ParietalLobe17.8
Pituitary17.15
Placenta13.35
Pons14.6
PrefrontalCortex181.25
Prostate16.65
Salivarygland11.5
SkeletalMuscle16.25
Skin7.95
SmoothMuscle4.35
Spinalcord51.5
SubthalamicNucleus17.75
SuperiorCervicalGanglion13
TemporalLobe13.7
Testis8.95
TestisGermCell7.05
TestisIntersitial11.75
TestisLeydigCell6.95
TestisSeminiferousTubule6.05
Thalamus19.05
Thymus88.35
Thyroid32.15
Tongue9.65
Tonsil14.15
Trachea9.4
TrigeminalGanglion14.5
Uterus11.35
UterusCorpus12.85
WholeBlood8.9
Wholebrain98.95
colon14.35
pineal_day159.32
pineal_night132.1
retina22.85
small_intestine14.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P3761
  • 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
Amygdala8.33 ± 0.26
Basal Forebrain8.19 ± 0.19
Basal Part of Pons7.97 ± 0.39
Cerebellar Cortex7.74 ± 0.21
Cerebellar Nuclei7.99 ± 0.28
Claustrum8.16 ± 0.42
Epithalamus7.9 ± 0.3
Frontal Lobe7.92 ± 0.35
Globus Pallidus8.54 ± 0.12
Hypothalamus8.08 ± 0.28
Insula7.99 ± 0.25
Limbic Lobe8.09 ± 0.36
Mesencephalon8.06 ± 0.41
Myelencephalon8.04 ± 0.31
Occipital Lobe8.09 ± 0.28
Parietal Lobe8.07 ± 0.36
Pontine Tegmentum8.01 ± 0.34
Striatum8.35 ± 0.35
Subthalamus8.31 ± 0.07
Temporal Lobe7.94 ± 0.29
Thalamus7.99 ± 0.27
White Matter7.1 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Aldh5a1CBCerebellum27.32
57.39
Aldh5a1CTXCerebral cortex66.96
57.23
Aldh5a1HIPHippocampal region48.02
73.49
Aldh5a1HPFHippocampal formation54.9
68.07
Aldh5a1HYHypothalamus48.06
45.19
Aldh5a1LSXLateral septal complex33.9
25.3
Aldh5a1MBMidbrain62.12
66.3
Aldh5a1MYMedulla63.06
76.46
Aldh5a1OLFOlfactory bulb43.89
36.56
Aldh5a1PPons54.76
63.42
Aldh5a1PALPallidum73.63
83.89
Aldh5a1RHPRetrohippocampal region68.91
62.21
Aldh5a1sAMYStriatum-like amygdalar nuclei64.43
50.84
Aldh5a1STRStriatum61.51
48.91
Aldh5a1STRdStriatum dorsal region57.86
46.19
Aldh5a1STRvStriatum ventral region86.04
66.55
Aldh5a1THThalamus49.87
48.72
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002275 14 279 292 EVGEAICTDPLVSK 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