AutismKB 2.0

Annotation Detail for ALDH1L1


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Basic Information Top
Gene Symbol:ALDH1L1 ( 10-fTHF,DKFZp781N0997,FTHFD )
Gene Full Name: aldehyde dehydrogenase 1 family, member L1
Band: 3q21.3
Quick LinksEntrez ID:10840; OMIM: 600249; Uniprot ID:FTHFD_HUMAN; ENSEMBL ID: ENSG00000144908; HGNC ID: 3978
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 
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult59 / 193912130
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor1 / 2638453
glioma15 / 106883140
head and neck tumor1 / 1363027
kidney tumor4 / 6895958
leukemia1 / 9584210
liver tumor8 / 9635983
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal160 / 336030747
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder7 / 29757235
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain85 / 110098977
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye16 / 21105475
heart1 / 8962611
intestine5 / 23447221
kidney28 / 211777132
larynx0 / 241450 
liver25 / 207743120
lung10 / 33697429
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth2 / 6705229
muscle6 / 10771555
nerve0 / 157680 
ovary3 / 10205129
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis6 / 33044218
thymus4 / 8113149
thyroid1 / 4747321
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205208_at
Cell line Expression level Expression bar
721_B_lymphoblasts84.75
Adipocyte756.05
AdrenalCortex19.25
Adrenalgland10.3
Amygdala23.05
Appendix9.3
AtrioventricularNode7.2
BDCA4+_DentriticCells9.5
Bonemarrow8.55
BronchialEpithelialCells8.5
CD105+_Endothelial15.15
CD14+_Monocytes12
CD19+_BCells(neg._sel.)12.15
CD33+_Myeloid14.4
CD34+14.2
CD4+_Tcells13.75
CD56+_NKCells17.85
CD71+_EarlyErythroid10.35
CD8+_Tcells11.05
CardiacMyocytes13.05
Caudatenucleus18.8
Cerebellum13.75
CerebellumPeduncles17.35
CiliaryGanglion8.05
CingulateCortex10.7
Colorectaladenocarcinoma11.15
DorsalRootGanglion6.5
FetalThyroid8.75
Fetalbrain11.85
Fetalliver15.25
Fetallung9.4
GlobusPallidus8
Heart17.55
Hypothalamus12.35
Kidney167.7
Leukemia_chronicMyelogenousK-5629.2
Leukemia_promyelocytic-HL-609.75
Leukemialymphoblastic(MOLT-4)9
Liver3538.6
Lung12.5
Lymphnode9.5
Lymphoma_burkitts(Daudi)14.1
Lymphoma_burkitts(Raji)29.15
MedullaOblongata10.3
OccipitalLobe12.15
OlfactoryBulb11.3
Ovary7.95
Pancreas15.2
PancreaticIslet24.65
ParietalLobe11.6
Pituitary12
Placenta6.5
Pons10.5
PrefrontalCortex39.75
Prostate28.35
Salivarygland18.6
SkeletalMuscle12.2
Skin8.3
SmoothMuscle8.95
Spinalcord19.25
SubthalamicNucleus10.05
SuperiorCervicalGanglion9.65
TemporalLobe10.1
Testis11.15
TestisGermCell9.9
TestisIntersitial14.85
TestisLeydigCell10.9
TestisSeminiferousTubule13.8
Thalamus11.7
Thymus10.25
Thyroid14.15
Tongue17.2
Tonsil10.85
Trachea19
TrigeminalGanglion10.7
Uterus9.2
UterusCorpus8.7
WholeBlood9.9
Wholebrain27.3
colon11.3
pineal_day11.16
pineal_night12.74
retina29.25
small_intestine8.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15850_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
Amygdala4.24 ± 0.65
Basal Forebrain4.19 ± 0.56
Basal Part of Pons3.64 ± 0.6
Cerebellar Cortex3.56 ± 0.36
Cerebellar Nuclei3.85 ± 0.79
Claustrum3.2 ± 0.87
Epithalamus3.97 ± 0.82
Frontal Lobe4.04 ± 0.64
Globus Pallidus5.04 ± 0.39
Hypothalamus3.81 ± 0.43
Insula4.07 ± 0.55
Limbic Lobe3.81 ± 0.62
Mesencephalon4.35 ± 0.74
Myelencephalon4.12 ± 0.61
Occipital Lobe4.27 ± 0.54
Parietal Lobe4.2 ± 0.69
Pontine Tegmentum4.15 ± 0.59
Striatum5 ± 0.36
Subthalamus3.61 ± 0.7
Temporal Lobe4.16 ± 0.52
Thalamus4.43 ± 0.58
White Matter2.31 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Aldh1l1CBCerebellum48.97
48.24
Aldh1l1CTXCerebral cortex30.68
17.08
Aldh1l1HIPHippocampal region62.88
37.13
Aldh1l1HPFHippocampal formation50.84
28.86
Aldh1l1HYHypothalamus20.31
10.37
Aldh1l1LSXLateral septal complex32.42
15.14
Aldh1l1MBMidbrain41.26
24.67
Aldh1l1MYMedulla59.25
39.72
Aldh1l1OLFOlfactory bulb51.96
25.53
Aldh1l1PPons39.73
24.71
Aldh1l1PALPallidum23.65
14.09
Aldh1l1RHPRetrohippocampal region29.1
16.74
Aldh1l1sAMYStriatum-like amygdalar nuclei37.37
17.27
Aldh1l1STRStriatum16.76
8.36
Aldh1l1STRdStriatum dorsal region11.54
6.02
Aldh1l1STRvStriatum ventral region30.74
14.16
Aldh1l1THThalamus33.38
16.98
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
FTHFD_HUMAN_275 11 275 285 AGLILFGNDDK PRIDE
FTHFD_HUMAN_815 12 815 826 FADGDLDAVLSR PRIDE
FTHFD_HUMAN_827 15 827 841 ANATEFGLASGVFTR PRIDE
FTHFD_HUMAN_883 12 883 894 DLGEAALNEYLR PRIDE
PAp00411551 11 656 666 IGFTGSTEVGK 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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