AutismKB 2.0

Annotation Detail for AASS


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Basic Information Top
Gene Symbol:AASS ( LKR/SDH,LKRSDH,LORSDH )
Gene Full Name: aminoadipate-semialdehyde synthase
Band: 7q31.32
Quick LinksEntrez ID:10157; OMIM: 605113; Uniprot ID:AASS_HUMAN; ENSEMBL ID: ENSG00000008311; HGNC ID: 17366
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 body4 / 7076156
blastocyst16 / 62319256
fetus17 / 56401230
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult43 / 193912122
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor15 / 26384556
glioma1 / 1068839
head and neck tumor7 / 13630251
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor5 / 9635951
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal90 / 336030726
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone4 / 7165555
bone marrow0 / 488010 
brain18 / 110098916
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue21 / 21572297
esophagus0 / 202090 
eye0 / 2110540 
heart3 / 8962633
intestine1 / 2344724
kidney7 / 21177733
larynx2 / 2414582
liver17 / 20774381
lung4 / 33697411
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth6 / 6705289
muscle2 / 10771518
nerve1 / 1576863
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach2 / 9661920
testis10 / 33044230
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214829_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.45
Adipocyte12.3
AdrenalCortex10.05
Adrenalgland5.8
Amygdala7.85
Appendix10.6
AtrioventricularNode14.8
BDCA4+_DentriticCells5.75
Bonemarrow6.95
BronchialEpithelialCells6.4
CD105+_Endothelial6.6
CD14+_Monocytes8.8
CD19+_BCells(neg._sel.)7.3
CD33+_Myeloid8.05
CD34+7.95
CD4+_Tcells6.7
CD56+_NKCells7.1
CD71+_EarlyErythroid6.3
CD8+_Tcells5.45
CardiacMyocytes11
Caudatenucleus5.55
Cerebellum5.2
CerebellumPeduncles8.8
CiliaryGanglion15.95
CingulateCortex7.95
Colorectaladenocarcinoma6.6
DorsalRootGanglion11.1
FetalThyroid8.15
Fetalbrain5.85
Fetalliver5.8
Fetallung5.95
GlobusPallidus5.4
Heart10.1
Hypothalamus9.7
Kidney5.8
Leukemia_chronicMyelogenousK-5625.4
Leukemia_promyelocytic-HL-605.35
Leukemialymphoblastic(MOLT-4)5.2
Liver11.2
Lung6.95
Lymphnode5
Lymphoma_burkitts(Daudi)8.6
Lymphoma_burkitts(Raji)9.9
MedullaOblongata5.95
OccipitalLobe6.25
OlfactoryBulb7.2
Ovary33.55
Pancreas8.75
PancreaticIslet7.7
ParietalLobe7.95
Pituitary7.7
Placenta5.95
Pons7.3
PrefrontalCortex8.05
Prostate7.45
Salivarygland6.95
SkeletalMuscle12.15
Skin10.2
SmoothMuscle7.75
Spinalcord6.9
SubthalamicNucleus8.8
SuperiorCervicalGanglion18.05
TemporalLobe6.9
Testis5.1
TestisGermCell5.35
TestisIntersitial6.4
TestisLeydigCell7.55
TestisSeminiferousTubule5.75
Thalamus6.85
Thymus4.25
Thyroid8.2
Tongue11.5
Tonsil6.8
Trachea5.3
TrigeminalGanglion14.25
Uterus23.1
UterusCorpus9.15
WholeBlood6.4
Wholebrain4.8
colon6.15
pineal_day8.48
pineal_night9.22
retina9.225
small_intestine5.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8049_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
Amygdala5.57 ± 0.54
Basal Forebrain6.1 ± 0.43
Basal Part of Pons5.23 ± 0.55
Cerebellar Cortex4.95 ± 0.3
Cerebellar Nuclei5.84 ± 0.67
Claustrum5.66 ± 0.41
Epithalamus5.93 ± 0.31
Frontal Lobe5.2 ± 0.61
Globus Pallidus6.91 ± 0.31
Hypothalamus5.25 ± 0.58
Insula4.99 ± 0.37
Limbic Lobe5.19 ± 0.74
Mesencephalon5.58 ± 0.63
Myelencephalon5.54 ± 0.53
Occipital Lobe5.66 ± 0.67
Parietal Lobe5.33 ± 0.56
Pontine Tegmentum5.5 ± 0.53
Striatum6.14 ± 0.56
Subthalamus5.35 ± 0.08
Temporal Lobe5.18 ± 0.47
Thalamus5.63 ± 0.35
White Matter7.51 ± 0.45
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00010128 15 334 348 FSPAGVEGCPALPHK 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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