AutismKB 2.0

Annotation Detail for AASDHPPT


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Basic Information Top
Gene Symbol:AASDHPPT ( AASD-PPT,DKFZp566E2346,LYS2,LYS5 )
Gene Full Name: aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
Band: 11q22.3
Quick LinksEntrez ID:60496; OMIM: 607756; Uniprot ID:ADPPT_HUMAN; ENSEMBL ID: ENSG00000149313; HGNC ID: 14235
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 body7 / 7076198
blastocyst3 / 6231948
fetus52 / 56401292
neonate0 / 310970 
infant1 / 2362042
juvenile4 / 5555671
adult127 / 193912165
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor6 / 9417863
cervical tumor4 / 34366116
chondrosarcoma4 / 8282348
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor32 / 263845121
glioma2 / 10688318
head and neck tumor9 / 13630266
kidney tumor6 / 6895987
leukemia16 / 95842166
liver tumor8 / 9635983
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia3 / 9725030
normal282 / 336030783
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor5 / 12494940
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder2 / 2975767
blood5 / 12347840
bone4 / 7165555
bone marrow12 / 48801245
brain193 / 1100989175
cervix4 / 4817183
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye13 / 21105461
heart4 / 8962644
intestine9 / 23447238
kidney12 / 21177756
larynx1 / 2414541
liver15 / 20774372
lung11 / 33697432
lymph0 / 442700 
lymph node14 / 91610152
mammary gland14 / 15327191
mouth4 / 6705259
muscle6 / 10771555
nerve0 / 157680 
ovary2 / 10205119
pancreas20 / 21481293
parathyroid0 / 205390 
pharynx6 / 41328145
pituitary gland1 / 1658560
placenta30 / 280825106
prostate5 / 18934526
salivary gland5 / 20155248
skin5 / 21057423
spleen1 / 5395218
stomach3 / 9661931
testis33 / 33044299
thymus4 / 8113149
thyroid3 / 4747363
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus23 / 23287898
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202169_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts211.9
Adipocyte10.25
AdrenalCortex11.75
Adrenalgland8.65
Amygdala403.3
Appendix13.55
AtrioventricularNode8.55
BDCA4+_DentriticCells46.25
Bonemarrow7.05
BronchialEpithelialCells82.1
CD105+_Endothelial119.1
CD14+_Monocytes35.6
CD19+_BCells(neg._sel.)48
CD33+_Myeloid23.3
CD34+86.85
CD4+_Tcells27.75
CD56+_NKCells96.05
CD71+_EarlyErythroid12.6
CD8+_Tcells46.35
CardiacMyocytes15.4
Caudatenucleus100.45
Cerebellum15.45
CerebellumPeduncles20.1
CiliaryGanglion8
CingulateCortex39.5
Colorectaladenocarcinoma49.05
DorsalRootGanglion9.45
FetalThyroid10.5
Fetalbrain494.3
Fetalliver36.9
Fetallung14.35
GlobusPallidus18.7
Heart4.4
Hypothalamus249.6
Kidney6.5
Leukemia_chronicMyelogenousK-56263.2
Leukemia_promyelocytic-HL-6068.65
Leukemialymphoblastic(MOLT-4)40.65
Liver8.7
Lung6.55
Lymphnode15.75
Lymphoma_burkitts(Daudi)55.25
Lymphoma_burkitts(Raji)42.8
MedullaOblongata126.45
OccipitalLobe159.5
OlfactoryBulb8.5
Ovary7.15
Pancreas9.55
PancreaticIslet13.05
ParietalLobe89.5
Pituitary23.45
Placenta10.9
Pons29.6
PrefrontalCortex398.5
Prostate16.8
Salivarygland18.7
SkeletalMuscle13.2
Skin9.15
SmoothMuscle19.9
Spinalcord45.5
SubthalamicNucleus49.6
SuperiorCervicalGanglion13.7
TemporalLobe34
Testis5.95
TestisGermCell15
TestisIntersitial9
TestisLeydigCell3.85
TestisSeminiferousTubule7.45
Thalamus101.85
Thymus6.8
Thyroid36.35
Tongue10.9
Tonsil10.35
Trachea10.1
TrigeminalGanglion6.5
Uterus40.4
UterusCorpus6.85
WholeBlood39.35
Wholebrain174
colon12.05
pineal_day199.12
pineal_night167.42
retina26.25
small_intestine10.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P184230
  • 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
Amygdala10.13 ± 0.23
Basal Forebrain9.94 ± 0.18
Basal Part of Pons10.33 ± 0.22
Cerebellar Cortex9.96 ± 0.19
Cerebellar Nuclei10.06 ± 0.35
Claustrum10.08 ± 0.26
Epithalamus9.97 ± 0.23
Frontal Lobe10.22 ± 0.25
Globus Pallidus9.3 ± 0.45
Hypothalamus10.36 ± 0.33
Insula10.32 ± 0.23
Limbic Lobe10.25 ± 0.37
Mesencephalon10.03 ± 0.3
Myelencephalon10.09 ± 0.35
Occipital Lobe10.18 ± 0.3
Parietal Lobe10.2 ± 0.29
Pontine Tegmentum10.2 ± 0.33
Striatum10.39 ± 0.29
Subthalamus10.23 ± 0.31
Temporal Lobe10.17 ± 0.36
Thalamus10.1 ± 0.26
White Matter9.61 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AasdhpptHYHypothalamus34.39
25.08
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00361203 15 253 267 HQDVPSQDDSKPTQR 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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