AutismKB 2.0

Annotation Detail for ALAD


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Basic Information Top
Gene Symbol:ALAD ( ALADH,MGC5057,PBGS )
Gene Full Name: aminolevulinate dehydratase
Band: 9q32
Quick LinksEntrez ID:210; OMIM: 125270; Uniprot ID:HEM2_HUMAN; ENSEMBL ID: ENSG00000148218; HGNC ID: 395
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 body3 / 7076142
blastocyst1 / 6231916
fetus30 / 56401253
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult83 / 193912142
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) tumor10 / 94178106
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor8 / 26384530
glioma3 / 10688328
head and neck tumor9 / 13630266
kidney tumor4 / 6895958
leukemia7 / 9584273
liver tumor2 / 9635920
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal230 / 336030768
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
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 tissue1 / 1310676
adrenal gland12 / 33197361
ascites1 / 4001524
bladder3 / 29757100
blood9 / 12347872
bone1 / 7165513
bone marrow0 / 488010 
brain134 / 1100989121
cervix0 / 481710 
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye7 / 21105433
heart2 / 8962622
intestine11 / 23447246
kidney10 / 21177747
larynx0 / 241450 
liver10 / 20774348
lung9 / 33697426
lymph0 / 442700 
lymph node1 / 9161010
mammary gland10 / 15327165
mouth7 / 67052104
muscle3 / 10771527
nerve1 / 1576863
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta17 / 28082560
prostate4 / 18934521
salivary gland0 / 201550 
skin5 / 21057423
spleen4 / 5395274
stomach4 / 9661941
testis13 / 33044239
thymus13 / 81131160
thyroid2 / 4747342
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus6 / 23287825
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218487_at
Cell line Expression level Expression bar
721_B_lymphoblasts29.7
Adipocyte23.6
AdrenalCortex49.7
Adrenalgland180.65
Amygdala72.35
Appendix19.1
AtrioventricularNode23.95
BDCA4+_DentriticCells37.8
Bonemarrow58.65
BronchialEpithelialCells15.95
CD105+_Endothelial417.75
CD14+_Monocytes41.75
CD19+_BCells(neg._sel.)31.55
CD33+_Myeloid57.6
CD34+150.45
CD4+_Tcells35.1
CD56+_NKCells96.85
CD71+_EarlyErythroid788.15
CD8+_Tcells33.55
CardiacMyocytes28.45
Caudatenucleus41.5
Cerebellum40.3
CerebellumPeduncles36.3
CiliaryGanglion16.2
CingulateCortex49
Colorectaladenocarcinoma17.3
DorsalRootGanglion22.2
FetalThyroid24.7
Fetalbrain17.7
Fetalliver173.75
Fetallung16.3
GlobusPallidus38.4
Heart39.85
Hypothalamus129.8
Kidney75.7
Leukemia_chronicMyelogenousK-56215.9
Leukemia_promyelocytic-HL-6016.6
Leukemialymphoblastic(MOLT-4)18.9
Liver55.65
Lung20.95
Lymphnode19.35
Lymphoma_burkitts(Daudi)25.95
Lymphoma_burkitts(Raji)27.15
MedullaOblongata31.5
OccipitalLobe37.8
OlfactoryBulb95.1
Ovary12.7
Pancreas16
PancreaticIslet28.7
ParietalLobe42.7
Pituitary27.95
Placenta25.15
Pons31.15
PrefrontalCortex72.05
Prostate66.45
Salivarygland27.05
SkeletalMuscle25.5
Skin20.5
SmoothMuscle21.8
Spinalcord162.5
SubthalamicNucleus35.3
SuperiorCervicalGanglion43.4
TemporalLobe18.25
Testis20
TestisGermCell21.6
TestisIntersitial16.25
TestisLeydigCell19.1
TestisSeminiferousTubule15.75
Thalamus62.7
Thymus23.1
Thyroid71.15
Tongue18.8
Tonsil18.7
Trachea16.35
TrigeminalGanglion26.35
Uterus15.7
UterusCorpus17.4
WholeBlood20.1
Wholebrain88
colon46.15
pineal_day153.8
pineal_night124.06
retina161.25
small_intestine63.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P324278
  • 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
Amygdala5.6 ± 0.46
Basal Forebrain6.24 ± 0.34
Basal Part of Pons6.16 ± 0.4
Cerebellar Cortex5.65 ± 0.18
Cerebellar Nuclei5.94 ± 0.49
Claustrum5.66 ± 0.47
Epithalamus6.08 ± 0.63
Frontal Lobe5.88 ± 0.4
Globus Pallidus7.14 ± 0.29
Hypothalamus6.08 ± 0.43
Insula5.58 ± 0.44
Limbic Lobe5.77 ± 0.45
Mesencephalon6.01 ± 0.53
Myelencephalon5.98 ± 0.44
Occipital Lobe5.95 ± 0.33
Parietal Lobe5.99 ± 0.42
Pontine Tegmentum5.91 ± 0.46
Striatum6.33 ± 0.4
Subthalamus5.97 ± 0.51
Temporal Lobe5.88 ± 0.35
Thalamus6.12 ± 0.36
White Matter7.3 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AladCBCerebellum22.47
19.04
AladCTXCerebral cortex100
50.16
AladHIPHippocampal region53.81
57.91
AladHPFHippocampal formation61.11
47.53
AladHYHypothalamus100
52.68
AladLSXLateral septal complex100
70.85
AladMBMidbrain52.12
24.28
AladMYMedulla44.4
22.82
AladOLFOlfactory bulb100
64.7
AladPPons51.45
25.31
AladPALPallidum94.74
46.94
AladRHPRetrohippocampal region75.83
35.3
AladsAMYStriatum-like amygdalar nuclei100
41.31
AladSTRStriatum89.49
39.49
AladSTRdStriatum dorsal region69.53
28.71
AladSTRvStriatum ventral region100
58.99
AladTHThalamus88.13
44.91
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
HEM2_HUMAN_149 10 149 158 LAEVALAYAK PRIDE
HEM2_HUMAN_243 19 243 261 EGADMLMVKPGMPYLDIVR PRIDE
HEM2_HUMAN_244 19 244 262 EGADMLMVKPGMPYLDIVR PRIDE
HEM2_HUMAN_265 32 265 296 DKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLK PRIDE
HEM2_HUMAN_297 11 297 307 AAVLEAMTAFR PRIDE
HEM2_HUMAN_59 15 59 73 RLEEMLRPLVEEGLR PRIDE
HEM2_HUMAN_90 19 90 108 GSAADSEESPAIEAIHLLR PRIDE
HEM2_HUMAN_91 19 91 109 GSAADSEESPAIEAIHLLR PRIDE
PAp00033788 10 209 218 FASCFYGPFR 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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